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 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 11 603 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47407091 47407091 + Silent SNP C C G TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr1:47407091C>G ENST00000310638.4 - 1 46 c.15G>C c.(13-15)gtG>gtC p.V5V CYP4A11_ENST00000371905.1_Silent_p.V5V|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Silent_p.V5V|CYP4A11_ENST00000457840.2_5'UTR NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 5 V -> A (in Ref. 8; AA sequence). long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) TGGGGCTCAGCACAGAGACAC 0.587000 13 522 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274416 39274416 + Missense_Mutation SNP C C T rs408579 by1000genomes TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr17:39274416C>T ENST00000391413.2 - 1 190 c.152G>A c.(151-153)aGg>aAg p.R51K NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51K(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCACTGGGGCCTGCAGCAGCT 0.672000 8 385 0 0 1 0 0 RPLP0P2 0 broad.mit.edu 37 11 61405030 61405030 + RNA SNP T T A TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr11:61405030T>A ENST00000496593.1 + 0 1634 NR_002775.2 ctgctgctgctgcAGCCCCAG 0.552000 6 225 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 8 212 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr15:102304772T>C ENST00000561463.1 + 0 12818 CACAGCGGCGTGACGAGACTC 0.587000 8 42 0 0 1 0 0 ERAP1 51752 broad.mit.edu 37 5 96122218 96122218 + Missense_Mutation SNP C C T TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr5:96122218C>T ENST00000296754.3 - 12 1972 c.1715G>A c.(1714-1716)aGc>aAc p.S572N ERAP1_ENST00000443439.2_Missense_Mutation_p.S572N|ERAP1_ENST00000514604.1_5'UTR NM_016442.3 NP_057526.3 Q9NZ08 ERAP1_HUMAN endoplasmic reticulum aminopeptidase 1 572 angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2) 19 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) GTCGGATTTGCTGGTGATGAA 0.348000 7 190 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390482 45390482 + Missense_Mutation SNP C C G TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr6:45390482C>G ENST00000371438.1 + 2 569 c.211C>G c.(211-213)Cag>Gag p.Q71E RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 71 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 gcagcagcagcaggaggcggc 0.716000 6 170 0 0 1 0 0 AP005901.1 0 broad.mit.edu 37 18 15323347 15323347 + RNA SNP T T C TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr18:15323347T>C ENST00000455308.2 - 0 501 NR_027417.1 CCAATAAAAGTGGTGTGTGGC 0.303000 6 58 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 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.Q2724Q(16)|p.Q2725Q(1) 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) agcagcagcagcaacaacagc 0.562000 14 338 0 0 1 0 0 LILRB5 0 broad.mit.edu 37 19 54754843 54754843 + Missense_Mutation SNP A A G TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr19:54754843A>G ENST00000450632.1 - 13 1869 c.1792T>C c.(1792-1794)Tcc>Ccc p.S598P LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 423 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTGGGGAGGCCTGGGGG 0.607000 10 248 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 21 385 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 7 82 0.00307968 0.00307968 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 39 462 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515335 102515335 + RNA SNP C C G TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr15:102515335C>G ENST00000557932.1 + 0 1181 p.L386V(3) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 GGAGCGAAAGCTGGAGAAGAA 0.652000 9 92 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248309032 248309032 + Missense_Mutation SNP T T G TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr1:248309032T>G ENST00000366476.1 + 1 583 c.583T>G c.(583-585)Ttt>Gtt p.F195V NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CACATCAATATTTGAAAAGGT 0.413000 26 1667 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151935851 151935851 + Missense_Mutation SNP C C A TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr7:151935851C>A ENST00000355193.2 - 15 2811 c.2593G>T c.(2593-2595)Ggt>Tgt p.G865C KMT2C_ENST00000262189.6_Missense_Mutation_p.G865C lysine (K)-specific methyltransferase 2C ATTTCCCGACCTTCTGAAATG 0.423000 15 594 6.49762e-13 7.3576e-13 1 1 0 DGCR14 8220 broad.mit.edu 37 22 19132062 19132062 + Missense_Mutation SNP G G A rs113904207 byFrequency TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr22:19132062G>A ENST00000252137.6 - 1 135 c.92C>T c.(91-93)gCg>gTg p.A31V NM_022719.2 NP_073210.1 Q96DF8 DGC14_HUMAN DiGeorge syndrome critical region gene 14 31 A -> V. nervous system development catalytic step 2 spliceosome breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 16 Colorectal(54;0.0993) CTTGCTCGTCGCAGCCCCAGC 0.677000 6 146 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr16:90161902A>G ENST00000564451.1 + 0 1255 TUBB8P7_ENST00000567960.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 12 213 0 0 1 0 0 NUAK1 9891 broad.mit.edu 37 12 106532400 106532400 + Missense_Mutation SNP T T C TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr12:106532400T>C ENST00000261402.2 - 1 1411 c.32A>G c.(31-33)gAc>gGc p.D11G NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 11 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 GTCGGGGCGGTCCCCCGCCAC 0.771000 12 29 0 0 1 0 0 AP005901.1 0 broad.mit.edu 37 18 15323276 15323276 + RNA SNP A A T TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr18:15323276A>T ENST00000455308.2 - 0 572 NR_027417.1 ATCAACTGCAATTGCATTTGC 0.308000 26 72 0 0 1 0 0 OR2T2 401992 broad.mit.edu 37 1 248616734 248616734 + Silent SNP A A G TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr1:248616734A>G ENST00000342927.3 + 1 658 c.636A>G c.(634-636)ctA>ctG p.L212L NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTATCCCTCTATCTGTCATCT 0.542000 11 263 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 8 275 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 10 160 0 0 1 0 0 AP005901.1 0 broad.mit.edu 37 18 15323336 15323336 + RNA SNP G G A TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr18:15323336G>A ENST00000455308.2 - 0 512 NR_027417.1 TTTCCTTATGGCCAATAAAAG 0.289000 5 55 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 10 315 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 10 309 0 0 1 0 0 LAPTM4B 55353 broad.mit.edu 37 8 98788187 98788187 + Missense_Mutation SNP T T G TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr8:98788187T>G ENST00000445593.2 + 1 903 c.223T>G c.(223-225)Tcg>Gcg p.S75A LAPTM4B_ENST00000521545.2_5'UTR NM_018407.4 NP_060877.3 Q86VI4 LAP4B_HUMAN lysosomal protein transmembrane 4 beta 128 transport endomembrane system|integral to membrane protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 10 Breast(36;1.59e-06) OV - Ovarian serous cystadenocarcinoma(57;0.149) GGCGAGGCGGTCGACGCTCCT 0.741000 5 38 0 0 1 0 0 LPIN2 9663 broad.mit.edu 37 18 2922157 2922157 + Missense_Mutation SNP C C T TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr18:2922157C>T ENST00000261596.4 - 17 2453 c.2215G>A c.(2215-2217)Ggc>Agc p.G739S NM_014646.2 NP_055461.1 Q92539 LPIN2_HUMAN lipin 2 739 C-LIP. fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 29 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) TCGGCCATGCCGATGGCACGA 0.542000 6 232 0 0 1 0 0 GPR42 2866 broad.mit.edu 37 19 35862781 35862781 + Missense_Mutation SNP T T C TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr19:35862781T>C ENST00000454971.1 + 2 721 c.520T>C c.(520-522)Tgg>Cgg p.W174R GPR42_ENST00000597214.1_Missense_Mutation_p.W174R G protein-coupled receptor 42 (gene/pseudogene) endometrium(1)|kidney(1)|skin(2) 4 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) CCTGGAGTTCTGGAAGGACCA 0.597000 7 131 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000403642.1_Silent_p.S281S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 9 311 0 0 1 0 0 PCBP3 54039 broad.mit.edu 37 21 47333995 47333995 + Missense_Mutation SNP A A C TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr21:47333995A>C ENST00000400304.1 + 7 635 c.635A>C c.(634-636)cAc>cCc p.H212P PCBP3_ENST00000400308.1_Intron|PCBP3_ENST00000400314.1_Intron|PCBP3_ENST00000468429.1_Intron|PCBP3_ENST00000400309.1_Intron|PCBP3_ENST00000400310.1_Intron|PCBP3_ENST00000449640.1_Intron P57721 PCBP3_HUMAN poly(rC) binding protein 3 225 mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) TTACTGCAGCACCCGCCGCTG 0.627000 37 132 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 9 239 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 7 131 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 9 356 0 0 1 0 0 VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA TCA - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr1:7838212_7838214delTCA ENST00000054666.6 + 4 381_383 c.266_268delTCA c.(265-270)ttc>t p.FI89del VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 89 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 7 984 --- --- --- --- ESPNP 0 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 12 28 --- --- --- --- CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr1:32670247_32670248delTG ENST00000421922.2 + 5 674_675 c.574_575delTG c.(574-576)tfs p.C192fs CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 13 1200 --- --- --- --- ZBTB8A 653121 broad.mit.edu 37 1 33065979 33065981 + In_Frame_Del DEL GAA GAA - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr1:33065979_33065981delGAA ENST00000373510.4 + 5 1514_1516 c.1285_1287delGAA c.(1285-1287)del p.E433del ZBTB8OS_ENST00000341885.5_Intron|RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_3'UTR NM_001040441.1 NP_001035531.1 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 433 Poly-Glu. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(2)|lung(2)|prostate(1) 7 TGATGATAGTGAAGAAGAAGAAG 0.414 7 418 --- --- --- --- PTPRF 5792 broad.mit.edu 37 1 44071946 44071948 + In_Frame_Del DEL GCG GCG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr1:44071946_44071948delGCG ENST00000359947.4 + 20 3859_3861 c.3519_3521delGCG c.(3517-3522)cag>ca p.QR1173del PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1173 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAGAGGAGCAGCGGCGGCGGCGG 0.631 11 778 --- --- --- --- SLC6A9 6536 broad.mit.edu 37 1 44489938 44489938 + Frame_Shift_Del DEL T T - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr1:44489938delT ENST00000372310.3 - 2 177 c.12delA c.(10-12)aafs p.K4fs SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000475075.2_5'UTR NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 335 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) CTTTGGCACCTTTTCCTACCA 0.627 7 1830 --- --- --- --- RP5-1198O20.4 0 broad.mit.edu 37 1 44570056 44570058 + RNA DEL CTG CTG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr1:44570056_44570058delCTG ENST00000434244.1 + 0 2053_2055 TCCCAGCCGTCTGCTGCTGCTGC 0.576 7 507 --- --- --- --- C1orf168 199920 broad.mit.edu 37 1 57192198 57192199 + Frame_Shift_Ins INS - - T TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr1:57192198_57192199insT ENST00000343433.6 - 16 1931_1932 c.1851_1852insA c.(1849-1854)aaagaafs p.E618fs NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 618 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 CCGTTTTTCTCTTTTTTTTCCT 0.376 8 584 --- --- --- --- JAK1 3716 broad.mit.edu 37 1 65306996 65306997 + Frame_Shift_Ins INS - - T TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr1:65306996_65306997insT ENST00000342505.4 - 19 2828_2829 c.2580_2581insA c.(2578-2583)aacagcfs p.NS860fs NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 860 interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) TCAGTTGCTGGTTTTTTTTCTG 0.470 Mis ALL 7 737 --- --- --- --- BRDT 676 broad.mit.edu 37 1 92447228 92447230 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr1:92447228_92447230delAGC ENST00000370389.2 + 12 2623_2625 c.1699_1701delAGC c.(1699-1701)del p.S575del BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del 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 11 564 --- --- --- --- TCHH 7062 broad.mit.edu 37 1 152082957 152082959 + In_Frame_Del DEL CTC CTC - rs143222885 by1000genomes TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr1:152082957_152082959delCTC ENST00000368804.1 - 2 2733_2735 c.2734_2736delGAG c.(2734-2736)del p.E912del NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 912 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTCTGTAGCTCCTCCTCCTCC 0.586 19 1287 --- --- --- --- CD1D 912 broad.mit.edu 37 1 158151257 158151257 + Frame_Shift_Del DEL T T - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr1:158151257delT ENST00000368171.3 + 3 573 c.74delT c.(73-75)ctfs p.L25fs NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 25 antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) CCGCAAAGGCTTTTCCCCCTC 0.592 7 2641 --- --- --- --- SMG7 9887 broad.mit.edu 37 1 183515266 183515267 + Frame_Shift_Ins INS - - A TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr1:183515266_183515267insA ENST00000367537.3 + 18 2680_2681 c.2485_2486insA c.(2485-2487)aaafs p.K829fs SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 846 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding p.?(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GCAGCCTCTAGAAAAAAAAATG 0.450 17 425 --- --- --- --- APOBEC4 403314 broad.mit.edu 37 1 183616826 183616828 + In_Frame_Del DEL TTC TTC - rs141411396 TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr1:183616826_183616828delTTC ENST00000308641.4 - 2 1360_1362 c.1089_1091delGAA c.(1087-1092)aaa>aa p.KK363del RGL1_ENST00000304685.3_Intron|RGL1_ENST00000367531.1_Intron|RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_5'UTR NM_203454.2 NP_982279.1 Q8WW27 ABEC4_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 363 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1) 21 TTTCTTCCCTTTCTTCTTCTTCT 0.419 11 909 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 8 457 --- --- --- --- TAF1B 9014 broad.mit.edu 37 2 9989570 9989571 + Frame_Shift_Ins INS - - A TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr2:9989570_9989571insA ENST00000263663.5 + 3 374_375 c.186_187insA c.(184-189)ctaaaafs p.LK62fs TAF1B_ENST00000396242.3_5'UTR|TAF1B_ENST00000402170.1_3'UTR NM_005680.2 NP_005671.2 Q53T94 TAF1B_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa 62 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity p.K63fs*1(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ACCGGGGGCTTAAAAAAAAAAA 0.337 7 32 --- --- --- --- DHX57 90957 broad.mit.edu 37 2 39095411 39095413 + In_Frame_Del DEL CCA CCA - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 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 7 598 --- --- --- --- OTX1 5013 broad.mit.edu 37 2 63283259 63283261 + In_Frame_Del DEL CCA CCA - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr2:63283259_63283261delCCA ENST00000366671.3 + 5 1149_1151 c.873_875delCCA c.(871-876)ggc>gg p.GH291del OTX1_ENST00000282549.2_In_Frame_Del_p.GH291del NM_001199770.1 NP_001186699.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 291 His-rich. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) AGTCCTCAGGccaccaccaccac 0.640 9 486 --- --- --- --- DYSF 8291 broad.mit.edu 37 2 71801420 71801422 + In_Frame_Del DEL CCG CCG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr2:71801420_71801422delCCG ENST00000258104.3 + 30 3544_3546 c.3267_3269delCCG c.(3265-3270)ttc>tt p.FR1089del DYSF_ENST00000410020.3_In_Frame_Del_p.FR1107del|DYSF_ENST00000394120.2_In_Frame_Del_p.FR1090del|DYSF_ENST00000409744.1_In_Frame_Del_p.FR1076del|DYSF_ENST00000410041.1_In_Frame_Del_p.FR1107del|DYSF_ENST00000429174.2_In_Frame_Del_p.FR1089del|DYSF_ENST00000409582.3_In_Frame_Del_p.FR1106del|DYSF_ENST00000409762.1_In_Frame_Del_p.FR1106del|DYSF_ENST00000409366.1_In_Frame_Del_p.FR1090del|DYSF_ENST00000413539.2_In_Frame_Del_p.FR1120del|DYSF_ENST00000409651.1_In_Frame_Del_p.FR1121del NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1089 Arg-rich. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CAGATGCCTTCCGCCGCCGCCGC 0.655 7 988 --- --- --- --- WBP1 23559 broad.mit.edu 37 2 74687550 74687550 + Frame_Shift_Del DEL T T - rs8469 byFrequency TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr2:74687550delT ENST00000393972.3 + 5 857 c.654delT c.(652-654)ccfs p.P218fs WBP1_ENST00000233615.2_Frame_Shift_Del_p.P184fs|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Frame_Shift_Del_p.P181fs Q96G27 WBP1_HUMAN WW domain binding protein 1 184 WW domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 8 GTGCCCCCCCTCATCAGGAGG 0.612 8 796 --- --- --- --- ERCC3 2071 broad.mit.edu 37 2 128028913 128028913 + Splice_Site DEL T T - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr2:128028913delT ENST00000493187.2 - 12 2215 c.1753_splice c.e12+1 p.K584_splice ERCC3_ENST00000285398.2_Splice_Site_p.K648_splice P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 648 Helicase C-terminal. cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) CCACTTTACCTTTTTTAGCTC 0.527 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 7 1288 --- --- --- --- HIBCH 26275 broad.mit.edu 37 2 191161629 191161629 + Frame_Shift_Del DEL T T - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr2:191161629delT ENST00000392332.3 - 3 268 c.129delA c.(127-129)aafs p.K43fs HIBCH_ENST00000359678.5_Frame_Shift_Del_p.K43fs Q6NVY1 HIBCH_HUMAN 3-hydroxyisobutyryl-CoA hydrolase 43 branched chain family amino acid catabolic process mitochondrial matrix 3-hydroxyisobutyryl-CoA hydrolase activity|protein binding NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814) CCGTGCAACCTTTTTTTTCCA 0.353 10 306 --- --- --- --- ANKRD44 91526 broad.mit.edu 37 2 197943383 197943384 + Frame_Shift_Del DEL TG TG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr2:197943383_197943384delTG ENST00000409153.1 - 16 1875_1876 c.1693_1694delCA c.(1693-1695)tfs p.H565fs ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000337207.5_Intron Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 811 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) ATTTGGGGTATGTGTGTGTGTG 0.411 14 93 --- --- --- --- SGOL2 151246 broad.mit.edu 37 2 201437003 201437004 + Frame_Shift_Ins INS - - T TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr2:201437003_201437004insT ENST00000357799.4 + 7 2032_2033 c.1934_1935insT c.(1933-1935)attfs p.I645fs NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 645 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 AAAAAAGGTAATTTTTTTTTCA 0.337 8 734 --- --- --- --- GIGYF2 26058 broad.mit.edu 37 2 233712228 233712230 + In_Frame_Del DEL CAG CAG - rs72096937 TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr2:233712228_233712230delCAG ENST00000373566.3 + 28 3894_3896 c.3697_3699delCAG c.(3697-3699)del p.Q1238del GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1238del|GIGYF2_ENST00000409547.1_In_Frame_Del_p.Q1216del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1237del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q1210del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q1216del Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 1216 Gln-rich. cell death protein binding p.Q1216delQ(2)|p.Q1237delQ(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) gcagctgccacagcagcagcagc 0.547 7 231 --- --- --- --- GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr2:242738494_242738496delTCC ENST00000192314.6 + 2 175_177 c.44_46delTCC c.(43-48)atc>a p.IL15del NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 15 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TTCCGGGTCATCCTCCTCCTCCT 0.631 8 423 --- --- --- --- EDEM1 9695 broad.mit.edu 37 3 5248941 5248941 + Frame_Shift_Del DEL T T - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr3:5248941delT ENST00000256497.4 + 7 1454 c.1321delT c.(1321-1323)ttfs p.F442fs EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs NM_014674.2 NP_055489.1 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 1 442 ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) TCTGCAGGCCTTTTTCCCTGG 0.463 8 671 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 8 1362 --- --- --- --- UROC1 131669 broad.mit.edu 37 3 126220106 126220106 + Frame_Shift_Del DEL T T - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr3:126220106delT ENST00000290868.2 - 10 973 c.920delA c.(919-921)agfs p.K307fs UROC1_ENST00000383579.3_Frame_Shift_Del_p.K367fs NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 307 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) GAGCACCTCCTTTTTTTTCCT 0.587 8 1250 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) 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) GCAGCAGACCCAGCAGCAGCAGC 0.527 10 535 --- --- --- --- EIF4G1 1981 broad.mit.edu 37 3 184039744 184039746 + In_Frame_Del DEL GAA GAA - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr3:184039744_184039746delGAA ENST00000342981.4 + 9 1786_1788 c.1372_1374delGAA c.(1372-1374)del p.E465del EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 465 Poly-Glu. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGAGGAAATGgaagaagaagaag 0.562 12 606 --- --- --- --- ATP13A3 79572 broad.mit.edu 37 3 194181471 194181473 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr3:194181471_194181473delGAG ENST00000439040.1 - 4 930_932 c.139_141delCTC c.(139-141)del p.L47del ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del Q9H7F0 AT133_HUMAN ATPase type 13A3 47 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) GCATCCAATAGAGGAGGAGGAGG 0.463 8 716 --- --- --- --- TMEM175 84286 broad.mit.edu 37 4 946206 946207 + Frame_Shift_Del DEL TG TG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 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 8 1089 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1389361 1389362 + Frame_Shift_Del DEL CA CA - rs71299249 TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr4:1389361_1389362delCA ENST00000324803.4 + 1 4022_4023 c.1062_1063delCA c.(1060-1065)ctcafs p.LT354fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 354 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CCCGCCTGCTCACACGTGCCCA 0.653 12 2382 --- --- --- --- SLC34A2 10568 broad.mit.edu 37 4 25678148 25678150 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr4:25678148_25678150delGCT ENST00000382051.3 + 13 1900_1902 c.1850_1852delGCT c.(1849-1854)cgc>c p.RC617del SLC34A2_ENST00000504570.1_In_Frame_Del_p.RC616del|SLC34A2_ENST00000503434.1_In_Frame_Del_p.RC616del NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 617 Cys-rich. cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) TTCCAGATGCgctgctgctgctg 0.640 T ROS1 NSCLC 7 373 --- --- --- --- UGDH 7358 broad.mit.edu 37 4 39515752 39515753 + Frame_Shift_Ins INS - - A TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr4:39515752_39515753insA ENST00000316423.6 - 3 556_557 c.214_215insT c.(214-216)tacfs p.Y72fs UGDH_ENST00000501493.2_Frame_Shift_Ins_p.Y72fs|UGDH_ENST00000515398.1_5'UTR|UGDH_ENST00000506179.1_Frame_Shift_Ins_p.Y72fs|UGDH_ENST00000507089.1_5'UTR NM_001184701.1|NM_003359.3 NP_001171630.1|NP_003350.1 O60701 UGDH_HUMAN UDP-glucose 6-dehydrogenase 72 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity p.S72fs*18(1) breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2) 27 NADH(DB00157) AATATTGGTAGAAAAAAAAAGA 0.297 8 392 --- --- --- --- RP11-584P21.2 0 broad.mit.edu 37 4 68312324 68312325 + RNA INS - - T TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr4:68312324_68312325insT ENST00000502400.1 - 0 34 ATAACCCAGACTTTTTTTTTTC 0.302 7 155 --- --- --- --- PROL1 58503 broad.mit.edu 37 4 71275429 71275429 + Frame_Shift_Del DEL T T - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr4:71275429delT ENST00000399575.2 + 3 558 c.384delT c.(382-384)ccfs p.P128fs PROL1_ENST00000514338.1_3'UTR NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 128 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) CTCCTATTCCTTTTTTTCTTG 0.428 7 923 --- --- --- --- MOB1B 92597 broad.mit.edu 37 4 71844994 71844995 + Frame_Shift_Ins INS - - T TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr4:71844994_71844995insT ENST00000309395.2 + 5 760_761 c.559_560insT c.(559-561)tttfs p.F187fs MOB1B_ENST00000396051.2_Frame_Shift_Ins_p.F192fs|MOB1B_ENST00000511449.1_Intron NM_001244766.1|NM_173468.3 NP_001231695.1|NP_775739.1 Q7L9L4 MOL1A_HUMAN MOB kinase activator 1B 187 hippo signaling cascade|protein autophosphorylation cytoplasm|nucleus kinase activator activity|kinase binding|metal ion binding CAAGCACTTTATTTTTTTTGTC 0.396 7 586 --- --- --- --- PTPN13 0 broad.mit.edu 37 4 87622606 87622607 + Frame_Shift_Ins INS - - A TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr4:87622606_87622607insA ENST00000436978.1 + 7 1327_1328 c.847_848insA c.(847-849)aaafs p.K283fs PTPN13_ENST00000511467.1_Frame_Shift_Ins_p.K283fs|PTPN13_ENST00000316707.6_Frame_Shift_Ins_p.K283fs|PTPN13_ENST00000411767.2_Frame_Shift_Ins_p.K283fs|PTPN13_ENST00000427191.2_Frame_Shift_Ins_p.K283fs NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 283 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TAGTGGCCCAGAAAAAAAACCC 0.401 7 223 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140810639 140810641 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr4:140810639_140810641delGCT ENST00000509479.2 - 2 2805_2807 c.1949_1951delAGC c.(1948-1953)ccg>c p.QP650del MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del|MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 646 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) GGAGGTGGCGgctgctgctgctg 0.586 17 435 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140811064 140811069 + In_Frame_Del DEL TGCTGC TGCTGC - rs71855026 TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr4:140811064_140811069delTGCTGC ENST00000509479.2 - 2 2377_2382 c.1521_1526delGCAGCA c.(1519-1527)caa>ca p.QQQ507del MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del|MAML3_ENST00000398940.1_Splice_Site_p.37_splice NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 506 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) TGAGtgctgttgctgctgctgctgct 0.515 39 557 --- --- --- --- DDX60 55601 broad.mit.edu 37 4 169182016 169182016 + Splice_Site DEL A A - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr4:169182016delA ENST00000393743.3 - 25 3689 c.3398_splice c.e25+1 p.L1133_splice DDX60_ENST00000505393.1_5'UTR NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1133 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) AATAACTTACAAAAAAAATAG 0.383 7 486 --- --- --- --- HMGB2 3148 broad.mit.edu 37 4 174253277 174253279 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr4:174253277_174253279delTCC ENST00000296503.5 - 5 1455_1457 c.582_584delGGA c.(580-585)gaa>ga p.EE196del HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del P26583 HMGB2_HUMAN high mobility group box 2 196 Asp/Glu-rich (acidic). base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding p.E194E(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) atcttcttcttcctcctcctcct 0.468 8 530 --- --- --- --- CEP72 55722 broad.mit.edu 37 5 640649 640651 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr5:640649_640651delAGC ENST00000264935.5 + 9 1559_1561 c.1469_1471delAGC c.(1468-1473)gag>g p.EQ490del CEP72_ENST00000444221.1_3'UTR NM_018140.3 NP_060610.2 Q9P209 CEP72_HUMAN centrosomal protein 72kDa 490 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) CGCCTTGCTGAGCAGCAGCAGCA 0.621 7 304 --- --- --- --- AC026703.1 0 broad.mit.edu 37 5 32789822 32789823 + Frame_Shift_Del DEL GT GT - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr5:32789822_32789823delGT ENST00000326958.1 + 1 878_879 c.315_316delGT c.(313-318)gggtfs p.GC105fs NPR3_ENST00000265074.8_3'UTR CTGATTTTGGGTGTGTGTGTGT 0.421 7 482 --- --- --- --- EGR1 1958 broad.mit.edu 37 5 137801633 137801635 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr5:137801633_137801635delCAG ENST00000239938.4 + 1 455_457 c.183_185delCAG c.(181-186)aac>aa p.NS61del NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 61 Gly/Ser-rich. cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) gcggcagcaacagcagcagcagc 0.700 8 272 --- --- --- --- CSF1R 1436 broad.mit.edu 37 5 149447806 149447808 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr5:149447806_149447808delAGC ENST00000286301.3 - 11 1887_1889 c.1596_1598delGCT c.(1594-1599)ctc>ct p.LL536del NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 536 L -> V (in dbSNP:rs55942044). cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) Tagcagcaggagcagcagcagca 0.596 8 419 --- --- --- --- BTNL8 79908 broad.mit.edu 37 5 180338421 180338421 + Frame_Shift_Del DEL C C - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr5:180338421delC ENST00000231229.4 + 3 714 c.480delC c.(478-480)ttfs p.F160fs BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000400707.3_Frame_Shift_Del_p.F35fs|BTNL8_ENST00000340184.4_Frame_Shift_Del_p.F160fs|BTNL8_ENST00000533815.2_5'UTR|BTNL8_ENST00000511704.1_Frame_Shift_Del_p.F44fs|BTNL8_ENST00000508408.1_Frame_Shift_Del_p.F160fs NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 160 Ig-like V-type 2. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGGGCTGGTTCCCCCGGCCCA 0.532 7 1276 --- --- --- --- DEK 7913 broad.mit.edu 37 6 18264079 18264081 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr6:18264079_18264081delTCC ENST00000397239.3 - 2 585_587 c.138_140delGGA c.(136-141)gaa>ga p.EE46del DEK_ENST00000244776.7_In_Frame_Del_p.EE46del NM_003472.3 NP_003463.1 P35659 DEK_HUMAN DEK oncogene 46 Asp/Glu-rich (highly acidic). chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) CCCACCTTTTtcctcctcctcct 0.532 T NUP214 AML 8 477 --- --- --- --- HLA-F 3134 broad.mit.edu 37 6 29694802 29694803 + Frame_Shift_Ins INS - - T rs17875385 TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr6:29694802_29694803insT ENST00000259951.7 + 7 1235_1236 c.1179_1180insT c.(1177-1182)ttttttfs p.FF393fs HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Intron NM_001098479.1 NP_001091949.1 P30511 HLAF_HUMAN major histocompatibility complex, class I, F 0 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 TGTGGATCTTGTTTTTTTTGTG 0.535 30 1526 --- --- --- --- TREML2 79865 broad.mit.edu 37 6 41168714 41168716 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr6:41168714_41168716delCAG ENST00000483722.1 - 1 216_218 c.31_33delCTG c.(31-33)del p.L11del NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 11 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) CCTGTGGCCACAGCAGCAGCAGC 0.631 8 214 --- --- --- --- GSTA1 2938 broad.mit.edu 37 6 52664097 52664100 + Splice_Site DEL TGAA TGAA - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr6:52664097_52664100delTGAA ENST00000334575.5 - 2 126 c.e2-2 NM_145740.3 NP_665683.1 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 12 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) TCTCTAAGCCtgaatgaatgaatg 0.431 7 308 --- --- --- --- GABRR1 2569 broad.mit.edu 37 6 89891719 89891721 + In_Frame_Del DEL AAG AAG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr6:89891719_89891721delAAG ENST00000435811.1 - 7 1255_1257 c.801_803delCTT c.(799-804)ttg>tt p.FL267del GABRR1_ENST00000369451.3_In_Frame_Del_p.FL197del|GABRR1_ENST00000454853.2_In_Frame_Del_p.FL284del 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 7 531 --- --- --- --- FYN 2534 broad.mit.edu 37 6 111983042 111983042 + Frame_Shift_Del DEL T T - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr6:111983042delT ENST00000354650.3 - 14 2120 c.1514delA c.(1513-1515)agfs p.K505fs FYN_ENST00000229471.4_Frame_Shift_Del_p.K450fs|FYN_ENST00000368678.4_Frame_Shift_Del_p.K502fs|FYN_ENST00000229470.5_Frame_Shift_Del_p.K453fs|FYN_ENST00000368667.2_Frame_Shift_Del_p.K505fs|FYN_ENST00000356013.2_Frame_Shift_Del_p.K450fs|FYN_ENST00000538466.1_Frame_Shift_Del_p.K502fs|FYN_ENST00000368682.3_Frame_Shift_Del_p.K502fs NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 505 Protein kinase. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) TTCAGGGTCCTTTTTCCAGCA 0.562 7 1267 --- --- --- --- PHACTR2 9749 broad.mit.edu 37 6 144081695 144081696 + Frame_Shift_Ins INS - - A TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr6:144081695_144081696insA ENST00000427704.2 + 5 709_710 c.579_580insA c.(577-582)ataaaafs p.IK193fs PHACTR2_ENST00000367582.3_Intron|PHACTR2_ENST00000305766.6_Intron|PHACTR2_ENST00000367584.4_Intron|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.IK204fs NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 193 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) TGCCTCCCATTAAAAAAAATAC 0.569 9 425 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755630 146755632 + In_Frame_Del DEL GAC GAC - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr6:146755630_146755632delGAC ENST00000361719.2 + 9 3753_3755 c.3283_3285delGAC c.(3283-3285)del p.D1099del GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del|GRM1_ENST00000492807.2_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1099 Asp/Glu-rich (acidic). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCCGCCCGCGGACGACGACGACG 0.650 7 765 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586662 1586663 + In_Frame_Ins INS - - GCC rs3837151 by1000genomes TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr7:1586662_1586663insGCC ENST00000297477.5 - 9 1483_1484 c.1167_1168insGGC c.(1165-1170)ccgcgg>ccGGCgcgg p.389_390PR>PAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 389 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) GAGCCGCCGCTGGGGTGGGTGC 0.703 12 198 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 7 91 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150816 65150816 + RNA DEL A A - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr7:65150816delA ENST00000430126.2 + 0 757 TTCATCCCTCACCCCCCCCCC 0.463 15 103 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72040750 72040751 + RNA INS - - A rs72347331 TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr7:72040750_72040751insA ENST00000438125.1 - 0 1399 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity AACATCCCTAGAAAAAAAAAAT 0.332 9 204 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91671392 91671393 + Frame_Shift_Del DEL AG AG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr7:91671392_91671393delAG ENST00000359028.2 + 20 5211_5212 c.4986_4987delAG c.(4984-4989)tcagfs p.SE1662fs AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1662 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACCTGGTTTCAGAGAGAGAGAG 0.411 T BRAF papillary thyroid 9 304 --- --- --- --- MEPCE 56257 broad.mit.edu 37 7 100028823 100028825 + In_Frame_Del DEL CCA CCA - rs71555278 TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr7:100028823_100028825delCCA ENST00000310512.2 + 1 1570_1572 c.1182_1184delCCA c.(1180-1185)cgc>cg p.RH394del MEPCE_ENST00000414441.1_5'UTR NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 394 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGGGAGGCCGCCACCACCACCAC 0.581 8 482 --- --- --- --- SRRT 51593 broad.mit.edu 37 7 100479332 100479332 + Frame_Shift_Del DEL G G - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr7:100479332delG ENST00000388793.4 + 4 524 c.304delG c.(304-306)ggfs p.G106fs SRRT_ENST00000457580.2_Frame_Shift_Del_p.G106fs|SRRT_ENST00000347433.4_Frame_Shift_Del_p.G106fs|SRRT_ENST00000432932.1_Frame_Shift_Del_p.G106fs NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 106 G -> GG (in Ref. 3; CAB46374). cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding p.G104fs*45(1) breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GCCCTATGCTGGGGGGGGTGG 0.607 7 260 --- --- --- --- FOXP2 93986 broad.mit.edu 37 7 114270016 114270018 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr7:114270016_114270018delCAG ENST00000393500.3 + 11 1148_1150 c.328_330delCAG c.(328-330)del p.Q116del FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del O15409 FOXP2_HUMAN forkhead box P2 191 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding p.Q210Q(2) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 gcagcagcaacagcagcagcagc 0.507 7 423 --- --- --- --- OR9A4 130075 broad.mit.edu 37 7 141619203 141619203 + Frame_Shift_Del DEL T T - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr7:141619203delT ENST00000548136.1 + 1 587 c.528delT c.(526-528)aafs p.N176fs MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) TGGTGAACAATTTTTTTTGTG 0.383 11 1081 --- --- --- --- TRBV7-8 0 broad.mit.edu 37 7 142099832 142099833 + RNA DEL CA CA - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr7:142099832_142099833delCA ENST00000390359.3 - 0 88 accactctctcacacacacaca 0.455 9 352 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149515189 149515189 + RNA DEL A A - rs112122477 TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr7:149515189delA ENST00000378016.2 + 0 11577 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GACCTCGAGTAACTGCCCCAG 0.667 31 28 --- --- --- --- SFTPC 6440 broad.mit.edu 37 8 22021060 22021061 + Frame_Shift_Del DEL GT GT - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr8:22021060_22021061delGT ENST00000522109.1 + 4 460_461 c.436_437delGT c.(436-438)gfs p.V146fs SFTPC_ENST00000520605.1_Splice_Site|SFTPC_ENST00000437090.2_Splice_Site|SFTPC_ENST00000524255.1_Splice_Site|SFTPC_ENST00000318561.3_Splice_Site|SFTPC_ENST00000521315.1_Splice_Site P11686 PSPC_HUMAN surfactant protein C 146 BRICHOS. respiratory gaseous exchange extracellular space p.M146fs*41(1) autonomic_ganglia(1)|large_intestine(1)|lung(1) 3 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CAACTTCCAGGTGTGTGTGTGT 0.545 7 154 --- --- --- --- WHSC1L1 54904 broad.mit.edu 37 8 38205092 38205092 + Frame_Shift_Del DEL T T - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr8:38205092delT ENST00000317025.8 - 2 1115 c.598delA c.(598-600)gcfs p.S200fs WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 200 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TGCTTGTTGCTTTTTTTCCTC 0.378 T NUP98 AML 7 833 --- --- --- --- RP11-586K2.1 0 broad.mit.edu 37 8 89498121 89498122 + RNA INS - - A TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr8:89498121_89498122insA ENST00000521433.1 + 0 179 RP11-586K2.1_ENST00000523254.1_RNA gaacagctatgaaaaaaaaaac 0.386 7 79 --- --- --- --- ANKRD20A1 84210 broad.mit.edu 37 9 67934791 67934794 + Frame_Shift_Del DEL AAAG AAAG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr9:67934791_67934794delAAAG ENST00000377477.2 + 4 673_676 c.561_564delAAAG c.(559-564)aafs p.KK187fs NM_032250.3 NP_115626.2 ankyrin repeat domain 20 family, member A1 kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1) 11 TTTTATTGAAAAAGAAAGCAAGTT 0.309 10 40 --- --- --- --- ROR2 4920 broad.mit.edu 37 9 94486026 94486028 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr9:94486026_94486028delTCC ENST00000375708.3 - 9 2946_2948 c.2748_2750delGGA c.(2746-2751)gaa>ga p.EE916del ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR 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 10 638 --- --- --- --- LINC00475 0 broad.mit.edu 37 9 94904432 94904432 + RNA DEL G G - rs58003635 TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr9:94904432delG ENST00000416438.2 + 0 184 NR_027341.1 GGCCTTCTTTGGGGGGGGGGT 0.612 14 5 --- --- --- --- MPP7 143098 broad.mit.edu 37 10 28378639 28378649 + Frame_Shift_Del DEL GCCGATACGGT GCCGATACGGT - rs141204011 byFrequency TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr10:28378639_28378649delGCCGATACGGT ENST00000337532.5 - 13 1350_1360 c.1074_1084delACCGTATCGGC c.(1072-1086)acgafs p.TPYRR358fs MPP7_ENST00000375732.1_Frame_Shift_Del_p.TPYRR358fs|MPP7_ENST00000540098.1_Frame_Shift_Del_p.TPYRR358fs|MPP7_ENST00000445954.2_Frame_Shift_Del_p.TPYRR233fs|MPP7_ENST00000375719.3_Frame_Shift_Del_p.TPYRR358fs NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 358 establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity p.R361Q(1)|p.P359P(1) autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 TTAGTTTGTCGCCGATACGGTGTCACTTCTT 0.384 8 973 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587198 55587200 + In_Frame_Del DEL GGC GGC - rs12246234 TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr10:55587198_55587200delGGC ENST00000373965.2 - 33 4735_4737 c.4341_4343delGCC c.(4339-4344)cct>cc p.PP1449del PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1442 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACCTggcggaggcggcggcggcg 0.571 HNSCC(58;0.16) 10 550 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61828727 61828729 + In_Frame_Del DEL GTG GTG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr10:61828727_61828729delGTG ENST00000280772.1 - 37 12101_12103 c.11910_11912delCAC c.(11908-11913)act>ac p.TT3976del ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3976 Thr-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 agtggtggtagtggtggtggtgg 0.468 7 766 --- --- --- --- SYNPO2L 79933 broad.mit.edu 37 10 75406948 75406948 + Frame_Shift_Del DEL A A - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr10:75406948delA ENST00000394810.2 - 4 2611 c.2462delT c.(2461-2463)tcfs p.F821fs SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Frame_Shift_Del_p.F597fs NM_001114133.1 NP_001107605.1 Q9H987 SYP2L_HUMAN synaptopodin 2-like 821 Pro-rich. cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) CGCCTGGGGGAAAAAGGGAGA 0.592 13 863 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81070787 81070789 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr10:81070787_81070789delCTC ENST00000334512.5 + 24 3514_3516 c.2942_2944delCTC c.(2941-2946)gct>g p.AP981del ZMIZ1_ENST00000446377.2_Intron NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 981 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CACAGTGGGGCTCCTCCTCCTCC 0.635 12 921 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr10:98336475delT ENST00000371142.4 - 2 430 c.214delA c.(214-216)gtfs p.S72fs NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 72 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TGACTGATACTTTTTTTTGAC 0.363 9 761 --- --- --- --- LZTS2 84445 broad.mit.edu 37 10 102763415 102763417 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 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 9 1271 --- --- --- --- INA 9118 broad.mit.edu 37 10 105048271 105048273 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr10:105048271_105048273delGAG ENST00000369849.4 + 3 1394_1396 c.1345_1347delGAG c.(1345-1347)del p.E454del NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 454 Poly-Glu.|Tail. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton p.E449_E450delEE(1) breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ACTTAAGAAAGAGGAGGAGGAGG 0.458 21 594 --- --- --- --- NUP98 4928 broad.mit.edu 37 11 3720389 3720389 + Frame_Shift_Del DEL T T - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr11:3720389delT ENST00000324932.7 - 25 4352 c.3932delA c.(3931-3933)acfs p.N1311fs NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1328 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CACAGGGCTGTTTTTTTGGGT 0.512 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 7 1382 --- --- --- --- OR10A2 341276 broad.mit.edu 37 11 6891253 6891255 + In_Frame_Del DEL TTC TTC - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 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 8 871 --- --- --- --- PLEKHA7 144100 broad.mit.edu 37 11 16822525 16822525 + Frame_Shift_Del DEL A A - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr11:16822525delA ENST00000355661.3 - 17 2415 c.2405delT c.(2404-2406)tcfs p.F802fs PLEKHA7_ENST00000448080.2_Frame_Shift_Del_p.F802fs|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Frame_Shift_Del_p.F802fs Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 802 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 GGTCACCTGGAAAAAAAAGGC 0.443 10 976 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 19901475 19901477 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr11:19901475_19901477delAGC ENST00000396085.1 + 5 933_935 c.572_574delAGC c.(571-576)aag>a p.KQ191del NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del|NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del|NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del|NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del|NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 191 CH. nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TCCCGATACAagcagcagcagca 0.611 15 645 --- --- --- --- FAU 2197 broad.mit.edu 37 11 64888248 64888250 + In_Frame_Del DEL TCT TCT - rs1065065 TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr11:64888248_64888250delTCT ENST00000529639.1 - 5 696_698 c.305_307delAGA c.(304-309)aca>a p.KT102del FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del|FAU_ENST00000279259.3_In_Frame_Del_p.ED83del NM_001997.4 NP_001988.1 P35544 UBIM_HUMAN Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed 0 NS(3)|kidney(1)|large_intestine(2) 6 GCCCGACCTGTCTTCTTCTTCTT 0.542 7 832 --- --- --- --- LRFN4 78999 broad.mit.edu 37 11 66625231 66625233 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr11:66625231_66625233delCTG ENST00000309602.4 + 1 259_261 c.16_18delCTG c.(16-18)del p.L10del PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_In_Frame_Del_p.L10del|LRFN4_ENST00000531590.1_3'UTR NM_024036.4 NP_076941.2 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III domain containing 4 10 integral to membrane breast(1)|lung(1)|prostate(1) 3 CCCGCCGCTCCTGCTGCTGCTGC 0.719 7 169 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89405323 89405326 + RNA DEL TTTA TTTA - rs34562444 TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr11:89405323_89405326delTTTA ENST00000532352.1 + 0 1114 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 aattatattgtttatttatttttg 0.230 12 29 --- --- --- --- DPAGT1 1798 broad.mit.edu 37 11 118969143 118969143 + Frame_Shift_Del DEL A A - rs35482889 TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr11:118969143delA ENST00000409993.2 - 7 2249 c.698delT c.(697-699)tcfs p.F233fs DPAGT1_ENST00000432443.2_Frame_Shift_Del_p.F126fs|DPAGT1_ENST00000354202.4_Frame_Shift_Del_p.F233fs Q9H3H5 GPT_HUMAN dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 233 dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity p.?(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 17 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) CAAAGTGGTGAAAAAAAAGGG 0.438 7 593 --- --- --- --- OR8D4 338662 broad.mit.edu 37 11 123777441 123777442 + Frame_Shift_Ins INS - - T rs79561639 byFrequency TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr11:123777441_123777442insT ENST00000321355.2 + 1 333_334 c.303_304insT c.(301-306)ctttttfs p.LF101fs NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TGATTCAGCTGTTTTTTTTCTG 0.436 9 1556 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711207 6711209 + In_Frame_Del DEL CTT CTT - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr12:6711207_6711209delCTT ENST00000309577.6 - 4 518_520 c.355_357delAAG c.(355-357)del p.K119del CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000357008.2_In_Frame_Del_p.K119del Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 119 Poly-Lys. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding p.K119delK(3) central_nervous_system(2) 2 TAGGTCCAAGCTTCTTCTTCTTC 0.537 13 319 --- --- --- --- SLC39A5 283375 broad.mit.edu 37 12 56628997 56628999 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr12:56628997_56628999delCTG ENST00000266980.4 + 5 984_986 c.691_693delCTG c.(691-693)del p.L234del SLC39A5_ENST00000454355.2_In_Frame_Del_p.L234del NM_001135195.1 NP_001128667.1 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (zinc transporter), member 5 234 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TCCCCTATCCCTGCTGCTGCTGC 0.635 7 1352 --- --- --- --- UTP20 27340 broad.mit.edu 37 12 101680156 101680157 + Frame_Shift_Ins INS - - T TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr12:101680156_101680157insT ENST00000261637.4 + 5 558_559 c.384_385insT c.(382-387)gattttfs p.DF128fs NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 128 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 ACTTTCCAGAGTTTTTTTTGAC 0.396 10 1401 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 11 1167 --- --- --- --- ESRRAP2 0 broad.mit.edu 37 13 21835723 21835728 + RNA DEL GGCGAG GGCGAG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr13:21835723_21835728delGGCGAG ENST00000427890.1 + 0 61 GATGGACTGAGGCGAGGGGTGGGACT 0.646 12 17 --- --- --- --- TPTE2P6 0 broad.mit.edu 37 13 25157747 25157748 + RNA INS - - T rs144668552 by1000genomes TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr13:25157747_25157748insT ENST00000453498.1 + 0 554 AAAATGGGAGGTTTTTTTAGGG 0.411 8 66 --- --- --- --- TSC22D1 8848 broad.mit.edu 37 13 45148691 45148693 + In_Frame_Del DEL TGT TGT - rs148625973 TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr13:45148691_45148693delTGT ENST00000458659.2 - 1 2008_2010 c.1518_1520delACA c.(1516-1521)cag>ca p.QQ508del TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ508del NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 508 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) TGgttgttgctgttgttgttgtt 0.502 10 743 --- --- --- --- RP11-248G5.8 0 broad.mit.edu 37 13 52796688 52796688 + RNA DEL C C - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr13:52796688delC ENST00000451298.1 - 0 1229 RP11-64P12.8_ENST00000606031.1_RNA cgctattgctccccacccatc 0.537 15 121 --- --- --- --- KIAA0391 9692 broad.mit.edu 37 14 35592700 35592700 + Frame_Shift_Del DEL T T - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr14:35592700delT ENST00000557565.1 + 2 630 c.249delT c.(247-249)cafs p.H83fs KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000605870.1_Intron O15091 MRRP3_HUMAN KIAA0391 83 tRNA processing mitochondrion central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) CTGTTCCTCATTTTTTTTTAG 0.423 12 296 --- --- --- --- FANCM 57697 broad.mit.edu 37 14 45642288 45642289 + Frame_Shift_Del DEL CT CT - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr14:45642288_45642289delCT ENST00000267430.5 + 13 2276_2277 c.2191_2192delCT c.(2191-2193)cfs p.L731fs FANCM_ENST00000542564.2_Frame_Shift_Del_p.L705fs NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 731 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 AATTCATCAACTCTCTCTCTCT 0.347 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 7 474 --- --- --- --- RP11-973N13.4 0 broad.mit.edu 37 14 65002366 65002367 + RNA INS - - T rs45532333 TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr14:65002366_65002367insT ENST00000554918.1 - 0 52 GTAAGATCTGATTTTTTTTTCA 0.436 7 186 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 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 10 204 --- --- --- --- ELMSAN1 91748 broad.mit.edu 37 14 74205926 74205928 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 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 10 220 --- --- --- --- MLH3 27030 broad.mit.edu 37 14 75514604 75514604 + Frame_Shift_Del DEL T T - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr14:75514604delT ENST00000355774.2 - 2 1970 c.1755delA c.(1753-1755)aafs p.K585fs MLH3_ENST00000238662.7_Frame_Shift_Del_p.K585fs|MLH3_ENST00000556740.1_Frame_Shift_Del_p.K585fs|MLH3_ENST00000556257.1_Frame_Shift_Del_p.K585fs|MLH3_ENST00000380968.2_5'UTR NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 585 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding p.A577_S588delAQTEKEKKKESS(2) breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) TGCTAGATTCTTTTTTTTTCT 0.358 Mismatch excision repair (MMR) 12 644 --- --- --- --- SYNE3 161176 broad.mit.edu 37 14 95921888 95921890 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr14:95921888_95921890delCTC ENST00000334258.5 - 5 975_977 c.961_963delGAG c.(961-963)del p.E321del SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCCGCAGCCGCTCCTCCTCCTCC 0.616 7 806 --- --- --- --- YY1 7528 broad.mit.edu 37 14 100705708 100705710 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr14:100705708_100705710delGAG ENST00000262238.4 + 1 387_389 c.127_129delGAG c.(127-129)del p.E47del NM_003403.3 NP_003394.1 P25490 TYY1_HUMAN YY1 transcription factor 47 Asp/Glu-rich (acidic). cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding p.E43delE(1) cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) AGTggtgggcgaggaggaggagg 0.719 7 82 --- --- --- --- IGHJ6 0 broad.mit.edu 37 14 106329451 106329453 + RNA DEL GTA GTA - rs2338628 TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr14:106329451_106329453delGTA ENST00000390560.2 - 0 15_17 AGACGTCCATGTAGTAGTAGTAG 0.537 8 696 --- --- --- --- IGHV4-39 0 broad.mit.edu 37 14 106877821 106877826 + RNA DEL CTACTG CTACTG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr14:106877821_106877826delCTACTG ENST00000390619.2 - 0 217_222 GTAGTAACTACTACTGCTGATGGAGC 0.607 7 537 --- --- --- --- HERC2 8924 broad.mit.edu 37 15 28518115 28518115 + Frame_Shift_Del DEL C C - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr15:28518115delC ENST00000261609.7 - 8 944 c.836delG c.(835-837)gafs p.G279fs NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 279 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.G279V(1)|p.G279fs*25(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GGGGATGCTTCCTGGCCCTTT 0.592 10 308 --- --- --- --- SPATA5L1 79029 broad.mit.edu 37 15 45710840 45710841 + Frame_Shift_Ins INS - - T TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr15:45710840_45710841insT ENST00000305560.6 + 7 2153_2154 c.2054_2055insT c.(2053-2055)tttfs p.F685fs SPATA5L1_ENST00000533841.1_3'UTR NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 685 cytoplasm ATP binding|nucleoside-triphosphatase activity kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) GCAGAAACCTGTTTTTTTTCTG 0.361 9 478 --- --- --- --- BLM 641 broad.mit.edu 37 15 91304138 91304139 + Frame_Shift_Ins INS - - A TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr15:91304138_91304139insA ENST00000355112.3 + 7 1653_1654 c.1535_1536insA c.(1534-1536)gaafs p.E512fs BLM_ENST00000560509.1_Frame_Shift_Ins_p.E512fs NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 512 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding p.N515fs*16(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) CCAAGACTAGGAAAAAAAAATG 0.371 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 10 466 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93540316 93540316 + Frame_Shift_Del DEL A A - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr15:93540316delA ENST00000394196.4 + 29 4793 c.3725delA c.(3724-3726)gafs p.E1242fs CHD2_ENST00000557381.1_Frame_Shift_Del_p.E1242fs NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1242 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) GACCCTGAAGAAAAAAAAAAG 0.348 12 386 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974509 93974510 + RNA DEL TC TC - rs57286078 TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr15:93974509_93974510delTC ENST00000543286.1 + 0 545 TTGGCTGGGTTCtttttttttt 0.431 7 225 --- --- --- --- BRICD5 283870 broad.mit.edu 37 16 2260586 2260588 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr16:2260586_2260588delCAG ENST00000328540.3 - 2 1231_1233 c.115_117delCTG c.(115-117)del p.L39del BRICD5_ENST00000562360.1_In_Frame_Del_p.L39del|BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del NM_182563.3 NP_872369.2 BRICHOS domain containing 5 CGGCcagcaccagcagcagcagc 0.660 7 195 --- --- --- --- SLC5A11 115584 broad.mit.edu 37 16 24921737 24921739 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr16:24921737_24921739delCAG ENST00000347898.3 + 15 2383_2385 c.1761_1763delCAG c.(1759-1764)gcc>gc p.AS587del SLC5A11_ENST00000545376.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.AS431del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.AS431del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.AS552del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.AS552del NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 587 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) TGCCAGAGGCCAGCAGCAGCAGC 0.542 16 413 --- --- --- --- IL4R 3566 broad.mit.edu 37 16 27373787 27373789 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 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_ENST00000543915.2_In_Frame_Del_p.E376del|IL4R_ENST00000380922.3_In_Frame_Del_p.E361del|IL4R_ENST00000565915.1_3'UTR 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 7 378 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29998498 29998500 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr16:29998498_29998500delCTG ENST00000308893.4 + 16 3948_3950 c.2905_2907delCTG c.(2905-2907)del p.L974del TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 974 Leu-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 CCTGCCCCTCCTGCTGCTGCTGC 0.709 7 592 --- --- --- --- BCL7C 9274 broad.mit.edu 37 16 30899223 30899223 + Frame_Shift_Del DEL G G - rs150838242 TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr16:30899223delG ENST00000215115.4 - 6 1632 c.617delC c.(616-618)cafs p.P206fs MIR4519_ENST00000565573.1_RNA|BCL7C_ENST00000380317.4_Intron|MIR4519_ENST00000564901.1_RNA|AC106782.20_ENST00000572471.1_RNA|MIR4519_ENST00000570025.1_RNA NM_004765.2 NP_004756.2 Q8WUZ0 BCL7C_HUMAN B-cell CLL/lymphoma 7C 206 Pro-rich. apoptosis large_intestine(1)|lung(3)|prostate(1)|skin(1) 6 Colorectal(24;0.198) GCGCTTGAGTGGGGGGGCACC 0.622 8 1315 --- --- --- --- RP11-439I14.2 0 broad.mit.edu 37 16 64770704 64770705 + RNA INS - - CCAGTGATGGTCACCT rs140029302 by1000genomes TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr16:64770704_64770705insCCAGTGATGGTCACCT ENST00000564293.1 + 0 453_454 TGTCACCACTGCCACCTTGTTC 0.371 9 39 --- --- --- --- NFAT5 10725 broad.mit.edu 37 16 69726420 69726422 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr16:69726420_69726422delCAG ENST00000349945.1 + 14 3962_3964 c.2410_2412delCAG c.(2410-2412)del p.Q812del NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 888 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.Q804Q(1)|p.Q898Q(1) 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 ATCTAATcaacagcagcagcagc 0.473 13 342 --- --- --- --- RP5-991G20.1 0 broad.mit.edu 37 16 72763869 72763869 + RNA DEL A A - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr16:72763869delA ENST00000563328.2 + 0 164 GGTCCAAAACAAAAAAAAAAA 0.433 9 34 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72991713 72991715 + In_Frame_Del DEL CCA CCA - rs4788682 by1000genomes TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr16:72991713_72991715delCCA ENST00000268489.5 - 2 3002_3004 c.2330_2332delTGG c.(2329-2334)gct>g p.VA777del ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 777 Poly-Ala. V -> A (in dbSNP:rs4788682). muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.V777V(1) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) gccgccgcagccaccgccgccgc 0.635 14 543 --- --- --- --- NPIPB15 440348 broad.mit.edu 37 16 74425400 74425402 + In_Frame_Del DEL CAA CAA - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 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 10 426 --- --- --- --- TCF25 22980 broad.mit.edu 37 16 89951019 89951020 + Frame_Shift_Ins INS - - A TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr16:89951019_89951020insA ENST00000263346.8 + 3 440_441 c.384_385insA c.(382-387)aaaaaafs p.KK128fs TCF25_ENST00000563406.1_3'UTR NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 128 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) TCCGGAAGAAGAAAAAAAAACA 0.446 9 194 --- --- --- --- ITGAE 3682 broad.mit.edu 37 17 3664312 3664314 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr17:3664312_3664314delTCC ENST00000263087.4 - 6 689_691 c.591_593delGGA c.(589-594)gaa>ga p.EE197del NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 197 Glu-rich (acidic).|X-domain (extra domain). cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) CTCACCAGCTtcctcctcctcct 0.586 7 569 --- --- --- --- NLRP1 22861 broad.mit.edu 37 17 5463340 5463341 + Frame_Shift_Del DEL TC TC - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr17:5463340_5463341delTC ENST00000345221.3 - 4 1229_1230 c.675_676delGA c.(673-678)gaaafs p.EK225fs NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Frame_Shift_Del_p.EK225fs|NLRP1_ENST00000262467.5_Frame_Shift_Del_p.EK225fs|NLRP1_ENST00000572272.1_Frame_Shift_Del_p.EK225fs|NLRP1_ENST00000269280.4_Frame_Shift_Del_p.EK225fs|NLRP1_ENST00000577119.1_Frame_Shift_Del_p.EK225fs NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 225 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) TTCTCTGATTTCTCTCTCTCTC 0.480 8 394 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 8 25 --- --- --- --- NUFIP2 57532 broad.mit.edu 37 17 27620990 27620992 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr17:27620990_27620992delGCT ENST00000225388.4 - 1 144_146 c.86_88delAGC c.(85-90)ccg>c p.QP29del NUFIP2_ENST00000579665.1_In_Frame_Del_p.QP29del NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 29 His-rich. nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) tggtggtgcggctgctgctgctg 0.591 16 466 --- --- --- --- ZNF207 7756 broad.mit.edu 37 17 30677314 30677316 + In_Frame_Del DEL AAG AAG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 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_ENST00000341711.6_In_Frame_Del_p.K7del|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_ENST00000342555.6_5'UTR 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 8 1172 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs483929 by1000genomes TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 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 14 403 --- --- --- --- BZRAP1 9256 broad.mit.edu 37 17 56387404 56387406 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr17:56387404_56387406delTCC ENST00000355701.3 - 21 4683_4685 c.3813_3815delGGA c.(3811-3816)gaa>ga p.EE1273del BZRAP1_ENST00000343736.4_In_Frame_Del_p.EE1273del|BZRAP1_ENST00000268893.6_In_Frame_Del_p.EE1213del NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1273 Poly-Glu. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CAGctcctcttcctcctcctcct 0.586 8 459 --- --- --- --- ROCK1P1 0 broad.mit.edu 37 18 112482 112482 + RNA DEL C C - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr18:112482delC ENST00000576266.1 + 0 116 AGGGGTGCTTCCAGCGAGGCG 0.622 11 173 --- --- --- --- SNORA70 0 broad.mit.edu 37 18 3025533 3025533 + RNA DEL A A - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr18:3025533delA ENST00000516449.1 - 0 31 ACAACTTCTTAAAAAAAAAAt 0.473 9 151 --- --- --- --- SEH1L 81929 broad.mit.edu 37 18 12986927 12986929 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr18:12986927_12986929delTCC ENST00000399892.2 + 9 1238_1240 c.1137_1139delTCC c.(1135-1140)ctt>ct p.LP379del SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA NM_001013437.1 NP_001013455.1 Q96EE3 SEH1_HUMAN SEH1-like (S. cerevisiae) 0 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 CCCAGCTCCTtcctcctcctcct 0.522 7 263 --- --- --- --- CXXC1 30827 broad.mit.edu 37 18 47812275 47812277 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr18:47812275_47812277delCTG ENST00000285106.6 - 5 1195_1197 c.481_483delCAG c.(481-483)del p.Q161del CXXC1_ENST00000412036.2_In_Frame_Del_p.Q161del|CXXC1_ENST00000589940.1_In_Frame_Del_p.Q161del NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 161 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 ACCGTTTGATctgctgctgctgc 0.557 8 286 --- --- --- --- CDH19 28513 broad.mit.edu 37 18 64178924 64178925 + Splice_Site INS - - A TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr18:64178924_64178925insA ENST00000262150.2 - 10 1751 c.e10-2 CDH19_ENST00000540086.1_Intron NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) CTGAATTACCTAAAAAAAAAGG 0.317 10 357 --- --- --- --- ZNF236 7776 broad.mit.edu 37 18 74593429 74593430 + Frame_Shift_Ins INS - - A TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr18:74593429_74593430insA ENST00000253159.8 + 9 1570_1571 c.1372_1373insA c.(1372-1374)aaafs p.K458fs ZNF236_ENST00000320610.9_Frame_Shift_Ins_p.K460fs NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 458 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GGATAAAAAAGAAAAAAAAATG 0.381 8 356 --- --- --- --- MLLT1 4298 broad.mit.edu 37 19 6222272 6222274 + In_Frame_Del DEL AGG AGG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr19:6222272_6222274delAGG ENST00000252674.7 - 6 1131_1133 c.968_970delCCT c.(967-972)ttc>t p.SF323del NM_005934.3 NP_005925.2 Q03111 ENL_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 323 Poly-Ser. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2) 17 TTGTCCGAGAAGGAGGAGGAGGA 0.650 T MLL AL 8 206 --- --- --- --- ZNF44 51710 broad.mit.edu 37 19 12384448 12384448 + Frame_Shift_Del DEL A A - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr19:12384448delA ENST00000356109.5 - 5 884 c.766delT c.(766-768)ggfs p.W256fs ZNF44_ENST00000355684.5_Frame_Shift_Del_p.W208fs NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) AAACTGGGCCAAAAAAAGGCT 0.398 7 737 --- --- --- --- CCDC130 81576 broad.mit.edu 37 19 13873132 13873134 + In_Frame_Del DEL AGG AGG - rs148655062 byFrequency TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr19:13873132_13873134delAGG ENST00000586600.1 + 10 1096_1098 c.593_595delAGG c.(592-597)cag>c p.QE198del CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_In_Frame_Del_p.QE198del P13994 CC130_HUMAN coiled-coil domain containing 130 198 response to virus protein binding endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18) AAAGCCATCCAGGAGGAGGAGGA 0.586 7 799 --- --- --- --- HAUS8 93323 broad.mit.edu 37 19 17160706 17160707 + Frame_Shift_Del DEL GA GA - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr19:17160706_17160707delGA ENST00000593360.1 - 10 3044_3045 c.1026_1027delTC c.(1024-1029)tcgtfs p.SR342fs HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs|HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 403 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 CTCCCTGAACGAGAGAGAGAGG 0.495 8 1122 --- --- --- --- SLC7A9 11136 broad.mit.edu 37 19 33353391 33353393 + In_Frame_Del DEL TGA TGA - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr19:33353391_33353393delTGA ENST00000023064.4 - 5 769_771 c.578_580delTCA c.(577-582)agc>a p.IS193del SLC7A9_ENST00000590341.1_In_Frame_Del_p.IS193del|SLC7A9_ENST00000587772.1_In_Frame_Del_p.IS193del NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 193 I -> II (in CSNU). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) ACCAGCCCGCTGATGATGATGAT 0.631 11 459 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 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 14 1065 --- --- --- --- ZNF585B 92285 broad.mit.edu 37 19 37681157 37681158 + Translation_Start_Site INS - - T TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr19:37681157_37681158insT ENST00000531805.1 - 0 220_221 ZNF585B_ENST00000527838.1_Intron|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000586320.1_Intron|ZNF585B_ENST00000532828.2_Intron Q52M93 Z585B_HUMAN zinc finger protein 585B regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AATTTACTTCAttttttttttg 0.460 9 119 --- --- --- --- SPRED3 399473 broad.mit.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr19:38882864_38882866delCCT ENST00000587013.1 + 3 569_571 c.491_493delCCT c.(490-495)ccc>c p.PS164del SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 120 multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCACTCAccccctcctcctcctc 0.645 10 147 --- --- --- --- RYR1 6261 broad.mit.edu 37 19 38948159 38948160 + Frame_Shift_Del DEL TG TG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr19:38948159_38948160delTG ENST00000355481.4 + 17 1945_1946 c.1814_1815delTG c.(1813-1815)cfs p.L605fs RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 605 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTATGCTCCCTGTGTGTGTGTA 0.530 9 1195 --- --- --- --- TIMM50 92609 broad.mit.edu 37 19 39972604 39972604 + Frame_Shift_Del DEL A A - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr19:39972604delA ENST00000314349.4 + 2 632 c.499delA c.(499-501)aafs p.K168fs TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000607714.1_Frame_Shift_Del_p.K65fs NM_001001563.1 NP_001001563.1 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) 65 FCP1 homology. mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1) 14 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CAGCTATGCCAAAAAAGTTGC 0.607 7 913 --- --- --- --- PSG7 5676 broad.mit.edu 37 19 43440068 43440069 + RNA DEL AC AC - rs72310923 TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr19:43440068_43440069delAC ENST00000406070.2 - 0 161 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) acacacacaaacacacacacac 0.495 7 144 --- --- --- --- CD3EAP 10849 broad.mit.edu 37 19 45911859 45911861 + In_Frame_Del DEL GAA GAA - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr19:45911859_45911861delGAA ENST00000309424.3 + 3 1121_1123 c.633_635delGAA c.(631-636)cgg>cg p.RK211del CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 211 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) TGGATGTGCGGAAGAAGAAGAAG 0.581 18 776 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)del p.L479del LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 479 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CAtcctactgctcctcctcctcc 0.581 HNSCC(37;0.09) 8 387 --- --- --- --- PTTG1IP 754 broad.mit.edu 37 21 46276194 46276196 + In_Frame_Del DEL GCA GCA - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr21:46276194_46276196delGCA ENST00000330938.3 - 4 581_583 c.361_363delTGC c.(361-363)del p.C121del PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000445724.2_Intron NM_004339.3 NP_004330.1 P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 121 Poly-Cys. protein import into nucleus cytoplasm|integral to membrane|nucleus ovary(1)|prostate(1) 2 Colorectal(79;0.0659) TCTTCCTCCTGCAGCAGCAGCAG 0.616 9 381 --- --- --- --- PICK1 9463 broad.mit.edu 37 22 38471034 38471036 + In_Frame_Del DEL GGA GGA - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr22:38471034_38471036delGGA ENST00000404072.3 + 13 1490_1492 c.1143_1145delGGA c.(1141-1146)ggg>gg p.GE381del PICK1_ENST00000356976.3_In_Frame_Del_p.GE381del NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 381 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) TCACAGATGGggaggaggaggag 0.635 7 163 --- --- --- --- SERHL 94009 broad.mit.edu 37 22 42898666 42898666 + RNA DEL C C - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chr22:42898666delC ENST00000359906.2 + 0 409 NR_027786.1 serine hydrolase-like endometrium(1)|large_intestine(1) 2 CCATATGGTGCCCCCCCCCCA 0.592 11 153 --- --- --- --- OFD1 8481 broad.mit.edu 37 X 13764946 13764946 + Frame_Shift_Del DEL A A - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chrX:13764946delA ENST00000380567.1 + 9 1154 c.282delA c.(280-282)gcfs p.A94fs OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs O75665 OFD1_HUMAN oral-facial-digital syndrome 1 234 LisH. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 AAATGGAAGCAAAAAAAAAGT 0.299 14 364 --- --- --- --- PRRG1 5638 broad.mit.edu 37 X 37312611 37312611 + Frame_Shift_Del DEL C C - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chrX:37312611delC ENST00000542554.1 + 5 666 c.394delC c.(394-396)ccfs p.P135fs PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR 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 8 807 --- --- --- --- SRPX 8406 broad.mit.edu 37 X 38079976 38079978 + In_Frame_Del DEL GCA GCA - rs72445954 TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chrX:38079976_38079978delGCA ENST00000378533.3 - 1 174_176 c.68_70delTGC c.(67-72)cgc>c p.LR23del SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 23 Missing. cell adhesion cell surface|membrane p.L23delL(2) autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 GGCGGGACGCgcagcagcagcag 0.729 OREG0019726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 26 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70360589 70360591 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chrX:70360589_70360591delAGC ENST00000333646.6 + 42 6357_6359 c.6158_6160delAGC c.(6157-6162)gag>g p.EQ2053del MED12_ENST00000374080.3_In_Frame_Del_p.EQ2050del|MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374102.1_In_Frame_Del_p.EQ2049del NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 2050 Gln-rich. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) ATCCTACCTGagcagcagcagca 0.586 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 7 634 --- --- --- --- ZBTB33 10009 broad.mit.edu 37 X 119388276 119388278 + In_Frame_Del DEL GAT GAT - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chrX:119388276_119388278delGAT ENST00000326624.2 + 2 1234_1236 c.1006_1008delGAT c.(1006-1008)del p.D340del ZBTB33_ENST00000557385.1_In_Frame_Del_p.D340del NM_006777.3 NP_006768.1 Q86T24 KAISO_HUMAN zinc finger and BTB domain containing 33 340 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 26 GGAAATAATAGATGATGATGATG 0.433 10 871 --- --- --- --- HTATSF1 27336 broad.mit.edu 37 X 135585048 135585050 + In_Frame_Del DEL AAG AAG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 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 7 602 --- --- --- --- CXorf66 347487 broad.mit.edu 37 X 139038599 139038599 + Frame_Shift_Del DEL T T - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chrX:139038599delT ENST00000370540.1 - 3 565 c.542delA c.(541-543)agfs p.K181fs NM_001013403.2 NP_001013421.1 Q5JRM2 CX066_HUMAN chromosome X open reading frame 66 181 integral to membrane breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1) 26 CTTATGTGCCTTTTCCAGGTG 0.413 8 1872 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639325 149639327 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 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_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del 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 13 524 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chrX:150817142_150817144delGCT ENST00000370357.4 + 9 930_932 c.685_687delGCT c.(685-687)del p.A236del NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity p.A229A(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.433 15 970 --- --- --- --- MAGEA10 4109 broad.mit.edu 37 X 151303906 151303908 + In_Frame_Del DEL AGG AGG - TCGA-HZ-8638-01A-11D-2396-08 TCGA-HZ-8638-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f8e370-782c-48de-989b-b861fafa9155 380736fb-bc7c-4d24-b8d8-66441c315ed4 g.chrX:151303906_151303908delAGG ENST00000370323.4 - 4 501_503 c.185_187delCCT c.(184-189)tgc>t p.SC62del RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 62 Poly-Ser. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AGAGGATAGCaggaggaggagga 0.562 9 802 --- --- --- ---