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 HFM1 164045 broad.mit.edu 37 1 91818698 91818698 + Missense_Mutation SNP C C G TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr1:91818698C>G ENST00000370425.3 - 15 1839 c.1741G>C c.(1741-1743)Gat>Cat p.D581H HFM1_ENST00000370424.3_Missense_Mutation_p.D260H|HFM1_ENST00000294696.5_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 581 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) GCAGCACCATCTTTTAAGATA 0.313 22 71 --- --- --- --- SDHC 6391 broad.mit.edu 37 1 161326467 161326467 + Splice_Site SNP G G A TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr1:161326467G>A ENST00000367975.2 + 5 391 c.242G>A c.(241-243)gGg>gAg p.G81E SDHC_ENST00000392169.2_Splice_Site_p.G28E|SDHC_ENST00000432287.2_Splice_Site_p.G47E|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000470743.3_3'UTR NM_003001.3 NP_002992.1 Q99643 C560_HUMAN succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa 81 respiratory electron transport chain|transport|tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex electron carrier activity|heme binding|succinate dehydrogenase activity urinary_tract(1) 1 all_cancers(52;6.96e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) Succinic acid(DB00139) TTCTCCTCAGGGGTCTCTCTT 0.468 """Mis, N, F""" """paraganglioma, pheochromocytoma""" Familial Paragangliomas;Carney-Stratakis syndrome 59 139 --- --- --- --- SUSD4 55061 broad.mit.edu 37 1 223396921 223396921 + Missense_Mutation SNP C C T TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr1:223396921C>T ENST00000343846.3 - 7 1747 c.1114G>A c.(1114-1116)Gtg>Atg p.V372M SUSD4_ENST00000366878.4_Missense_Mutation_p.V372M|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000484758.2_Missense_Mutation_p.V303M|SUSD4_ENST00000454695.2_Missense_Mutation_p.V212M|SUSD4_ENST00000494793.2_Missense_Mutation_p.V372M Q5VX71 SUSD4_HUMAN sushi domain containing 4 372 integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) ATGACGGGCACGCCGTCTACC 0.617 12 29 --- --- --- --- SDC1 6382 broad.mit.edu 37 2 20402631 20402631 + Missense_Mutation SNP G G T TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr2:20402631G>T ENST00000381150.1 - 6 1219 c.829C>A c.(829-831)Cgc>Agc p.R277S SDC1_ENST00000482879.1_Intron|SDC1_ENST00000403076.1_Intron|SDC1_ENST00000254351.4_Missense_Mutation_p.R277S NM_001006946.1 NP_001006947 P18827 SDC1_HUMAN syndecan 1 277 lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development cytoplasm|extracellular region|focal adhesion|integral to plasma membrane cytoskeletal protein binding|protein C-terminus binding NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2) 21 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) OV - Ovarian serous cystadenocarcinoma(76;0.221) TTCTTCATGCGGTACAGCATG 0.597 5 397 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179593776 179593776 + Missense_Mutation SNP T T C TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr2:179593776T>C ENST00000589042.1 - 65 19213 c.18989A>G c.(18988-18990)cAg>cGg p.Q6330R TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q6013R|TTN_ENST00000342992.6_Missense_Mutation_p.Q5086R|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6013 Ig-like 44. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATCAAGAATCTGATCATCCTT 0.398 19 37 --- --- --- --- C3orf62 375341 broad.mit.edu 37 3 49314298 49314298 + Missense_Mutation SNP T T C TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr3:49314298T>C ENST00000343010.3 - 1 1044 c.8A>G c.(7-9)tAc>tGc p.Y3C NM_198562.2 NP_940964.1 Q6ZUJ4 CC062_HUMAN chromosome 3 open reading frame 62 3 breast(1)|kidney(1)|large_intestine(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TGTCTTTATGTAATGCATTGG 0.443 14 60 --- --- --- --- GPR87 53836 broad.mit.edu 37 3 151012286 151012286 + Missense_Mutation SNP G G A TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr3:151012286G>A ENST00000260843.4 - 3 1212 c.748C>T c.(748-750)Cat>Tat p.H250Y MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron NM_023915.3 NP_076404.3 Q9BY21 GPR87_HUMAN G protein-coupled receptor 87 250 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 19 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTCTGGTTATGTTTTCGCTTT 0.438 85 141 --- --- --- --- CNOT6L 246175 broad.mit.edu 37 4 78641727 78641727 + Missense_Mutation SNP G G A TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr4:78641727G>A ENST00000504123.1 - 12 1656 c.1526C>T c.(1525-1527)cCt>cTt p.P509L CNOT6L_ENST00000264903.4_Missense_Mutation_p.P509L Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 509 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 9 CAGCCATTGAGGATCTAAAGG 0.468 107 168 --- --- --- --- ETNPPL 64850 broad.mit.edu 37 4 109667931 109667931 + Missense_Mutation SNP G G T TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr4:109667931G>T ENST00000296486.3 - 10 1313 c.1159C>A c.(1159-1161)Cac>Aac p.H387N ETNPPL_ENST00000510706.1_Missense_Mutation_p.H347N|ETNPPL_ENST00000411864.2_Missense_Mutation_p.H381N|ETNPPL_ENST00000512646.1_Missense_Mutation_p.H329N NM_001146590.1|NM_031279.3 NP_001140062.1|NP_112569.2 ethanolamine-phosphate phospho-lyase TAGATGATGTGCTGAGCTTCA 0.488 5 422 --- --- --- --- ZNF608 57507 broad.mit.edu 37 5 123984772 123984772 + Silent SNP C C A TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr5:123984772C>A ENST00000306315.5 - 4 1740 c.1305G>T c.(1303-1305)ggG>ggT p.G435G ZNF608_ENST00000504926.1_Silent_p.G8G NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 435 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) TCGCTCTCTTCCCTCTGCCCC 0.572 36 75 --- --- --- --- PCDHB3 56132 broad.mit.edu 37 5 140482022 140482022 + Missense_Mutation SNP G G T TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr5:140482022G>T ENST00000231130.2 + 1 1789 c.1789G>T c.(1789-1791)Ggc>Tgc p.G597C NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 597 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGCGACTCGGGCCAGAACGC 0.721 34 131 --- --- --- --- UNC5A 90249 broad.mit.edu 37 5 176306459 176306459 + Missense_Mutation SNP G G A TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr5:176306459G>A ENST00000329542.4 + 14 2607 c.2333G>A c.(2332-2334)cGg>cAg p.R778Q UNC5A_ENST00000261961.3_Missense_Mutation_p.R738Q NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 778 Death. apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCGACTGGCGGACTCTGGCC 0.677 83 142 --- --- --- --- ERMARD 55780 broad.mit.edu 37 6 170175420 170175420 + Nonsense_Mutation SNP G G T TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr6:170175420G>T ENST00000588451.1 + 13 1477 c.964G>T c.(964-966)Gaa>Taa p.E322* ERMARD_ENST00000392095.4_Nonsense_Mutation_p.E332*|ERMARD_ENST00000366773.3_Nonsense_Mutation_p.E458*|ERMARD_ENST00000418781.3_Nonsense_Mutation_p.E458*|ERMARD_ENST00000366772.2_Nonsense_Mutation_p.E458* ER membrane-associated RNA degradation 458 TTTCCCCGAAGAACTCACTCG 0.502 16 34 --- --- --- --- VCPIP1 80124 broad.mit.edu 37 8 67578649 67578649 + Missense_Mutation SNP T T C rs147256539 TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr8:67578649T>C ENST00000310421.4 - 1 803 c.545A>G c.(544-546)aAg>aGg p.K182R NM_025054.4 NP_079330.2 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex interacting protein 1 182 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) GGAGCGGTCCTTGCCATAGCC 0.547 91 132 --- --- --- --- ARFGEF1 10565 broad.mit.edu 37 8 68123726 68123726 + Missense_Mutation SNP G G A TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr8:68123726G>A ENST00000262215.3 - 34 5200 c.4811C>T c.(4810-4812)tCt>tTt p.S1604F ARFGEF1_ENST00000518230.1_Missense_Mutation_p.S442F|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.S1058F NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1604 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) ACTTGCTGTAGATTTAATTTT 0.313 18 36 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110420309 110420309 + Silent SNP T T A TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr8:110420309T>A ENST00000378402.5 + 18 1949 c.1845T>A c.(1843-1845)gtT>gtA p.V615V NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 615 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATGAAGTAGTTGAAGGGAATA 0.348 HNSCC(38;0.096) 35 44 --- --- --- --- CYP11B1 1584 broad.mit.edu 37 8 143960861 143960861 + Missense_Mutation SNP C C T TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr8:143960861C>T ENST00000377675.3 - 2 281 c.275G>A c.(274-276)aGg>aAg p.R92K CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000292427.4_Intron P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 80 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) TGCTGCACTCCTTCCCCATCT 0.647 Familial Hyperaldosteronism type I 27 42 --- --- --- --- IFNA16 3449 broad.mit.edu 37 9 21216869 21216869 + Missense_Mutation SNP A A G TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr9:21216869A>G ENST00000380216.1 - 1 441 c.436T>C c.(436-438)Tac>Cac p.Y146H NM_002173.2 NP_002164.1 P05015 IFN16_HUMAN interferon, alpha 16 146 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) CTTTGAAAGTATTTCCTCACA 0.463 192 273 --- --- --- --- CYP2C8 1558 broad.mit.edu 37 10 96827286 96827286 + Splice_Site SNP C C A TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr10:96827286C>A ENST00000371270.3 - 2 425 c.331G>T c.(331-333)Gga>Tga p.G111* CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000539050.1_5'UTR NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 111 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) GTGCACCTACCAAGTCCTTTA 0.448 21 173 --- --- --- --- HPS6 79803 broad.mit.edu 37 10 103826538 103826538 + Missense_Mutation SNP A A C TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr10:103826538A>C ENST00000299238.5 + 1 1392 c.1307A>C c.(1306-1308)cAg>cCg p.Q436P NM_024747.5 NP_079023.2 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome 6 436 cytosol|early endosome membrane|endoplasmic reticulum|microsome endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1) 11 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) CGGGCACCTCAGGCTCTGGCC 0.622 Hermansky-Pudlak syndrome 24 125 --- --- --- --- GSTO2 119391 broad.mit.edu 37 10 106035064 106035064 + Missense_Mutation SNP C C A TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr10:106035064C>A ENST00000369707.2 + 1 145 c.31C>A c.(31-33)Cgc>Agc p.R11S GSTO2_ENST00000401888.2_Missense_Mutation_p.R39S|GSTO2_ENST00000429569.2_Missense_Mutation_p.R11S|GSTO2_ENST00000338595.2_Missense_Mutation_p.R39S|GSTO2_ENST00000477078.2_Intron|GSTO2_ENST00000450629.2_Missense_Mutation_p.R39S NM_001191014.1 NP_001177943.1 Q9H4Y5 GSTO2_HUMAN glutathione S-transferase omega 2 water-soluble vitamin metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 11 Colorectal(252;0.178) Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155) Glutathione(DB00143) TCACAGGACCCGCCTCGTCCT 0.622 OREG0020515 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 101 --- --- --- --- ARL2 402 broad.mit.edu 37 11 64787952 64787952 + Missense_Mutation SNP C C T TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr11:64787952C>T ENST00000246747.4 + 4 496 c.401C>T c.(400-402)tCc>tTc p.S134F ARL2_ENST00000529384.1_Missense_Mutation_p.S134F|RP11-399J13.3_ENST00000301886.3_Intron|ARL2_ENST00000533729.1_Intron NM_001667.3 NP_001658.2 P36404 ARL2_HUMAN ADP-ribosylation factor-like 2 134 cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus GTP binding|GTPase activity|GTPase inhibitor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 5 GGAGCACTGTCCTCTAACGCC 0.532 8 22 --- --- --- --- ADAMTS15 170689 broad.mit.edu 37 11 130340830 130340830 + Missense_Mutation SNP T T C TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr11:130340830T>C ENST00000299164.2 + 6 1736 c.1736T>C c.(1735-1737)tTc>tCc p.F579S NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 579 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) GGAAAGAGCTTCCGGGAGGAG 0.612 95 231 --- --- --- --- COG6 57511 broad.mit.edu 37 13 40239254 40239254 + Missense_Mutation SNP G G A TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr13:40239254G>A ENST00000416691.1 + 4 491 c.391G>A c.(391-393)Gat>Aat p.D131N COG6_ENST00000455146.3_Missense_Mutation_p.D131N NM_001145079.1 NP_001138551.1 Q9Y2V7 COG6_HUMAN component of oligomeric golgi complex 6 131 protein transport Golgi membrane|Golgi transport complex NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1) 13 Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168) ACAGACTCAAGATTTAATAGT 0.274 42 44 --- --- --- --- DEGS2 123099 broad.mit.edu 37 14 100613165 100613165 + Missense_Mutation SNP A A G TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr14:100613165A>G ENST00000305631.5 - 3 1480 c.905T>C c.(904-906)tTt>tCt p.F302S DEGS2_ENST00000553834.1_Silent_p.V54V NM_206918.2 NP_996801.2 Q6QHC5 DEGS2_HUMAN delta(4)-desaturase, sphingolipid 2 302 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane sphingosine hydroxylase activity breast(1)|lung(6)|skin(1) 8 Melanoma(154;0.212) GGAGTCCTCAAACACAAAATC 0.632 59 108 --- --- --- --- UNC13C 440279 broad.mit.edu 37 15 54306249 54306249 + Silent SNP C C G TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr15:54306249C>G ENST00000545554.1 + 1 1149 c.1149C>G c.(1147-1149)acC>acG p.T383T UNC13C_ENST00000537900.1_Silent_p.T383T|UNC13C_ENST00000260323.11_Silent_p.T383T Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 383 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ACTTTGAAACCCCTCAACAAA 0.388 14 89 --- --- --- --- IGHV3OR16-8 388255 broad.mit.edu 37 16 33020709 33020709 + RNA SNP G G C TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr16:33020709G>C ENST00000565407.2 + 0 117 RP11-19N8.2_ENST00000567619.1_RNA CCCTGAGACTGTCCTGTCCAG 0.577 5 371 --- --- --- --- IGHV3OR16-8 388255 broad.mit.edu 37 16 33020716 33020716 + RNA SNP C C G TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr16:33020716C>G ENST00000565407.2 + 0 124 RP11-19N8.2_ENST00000567619.1_RNA ACTGTCCTGTCCAGCCTCTGG 0.582 10 413 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578253 7578253 + Missense_Mutation SNP C C A TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr17:7578253C>A ENST00000420246.2 - 6 728 c.596G>T c.(595-597)gGa>gTa p.G199V TP53_ENST00000269305.4_Missense_Mutation_p.G199V|TP53_ENST00000359597.4_Missense_Mutation_p.G199V|TP53_ENST00000413465.2_Missense_Mutation_p.G199V|TP53_ENST00000445888.2_Missense_Mutation_p.G199V|TP53_ENST00000455263.2_Missense_Mutation_p.G199V|TP53_ENST00000574684.1_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 199 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G199E(11)|p.G199V(11)|p.0?(8)|p.?(5)|p.G106V(2)|p.G67V(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.G199A(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.G199fs*48(1)|p.G199fs*42(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACGCAAATTTCCTTCCACTCG 0.542 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 27 53 --- --- --- --- ARHGEF15 22899 broad.mit.edu 37 17 8215726 8215726 + Silent SNP G G A TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr17:8215726G>A ENST00000361926.3 + 2 479 c.369G>A c.(367-369)ccG>ccA p.P123P ARHGEF15_ENST00000421050.1_Silent_p.P123P NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 123 Pro-rich. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 CACCCAAGCCGTCTGGGTCAC 0.682 21 271 --- --- --- --- MEGF8 1954 broad.mit.edu 37 19 42865114 42865114 + Missense_Mutation SNP C C G TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr19:42865114C>G ENST00000334370.4 + 31 6110 c.5475C>G c.(5473-5475)tgC>tgG p.C1825W MEGF8_ENST00000251268.6_Missense_Mutation_p.C1892W NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1892 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) CTGGGGCCTGCACCTGGTGCC 0.672 39 67 --- --- --- --- ZNF404 342908 broad.mit.edu 37 19 44384267 44384267 + Missense_Mutation SNP C C A TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr19:44384267C>A ENST00000587539.1 - 2 30 c.31G>T c.(31-33)Gtt>Ttt p.V11F ZNF404_ENST00000324394.6_Missense_Mutation_p.V9F NM_001033719.2 NP_001028891.2 Q494X3 ZN404_HUMAN zinc finger protein 404 11 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1) 17 Prostate(69;0.0352) TCTATGGCAACATCGCTGAAT 0.378 4 159 --- --- --- --- PLCB4 5332 broad.mit.edu 37 20 9360791 9360791 + Missense_Mutation SNP G G A TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr20:9360791G>A ENST00000378501.2 + 10 850 c.835G>A c.(835-837)Gaa>Aaa p.E279K PLCB4_ENST00000278655.4_Missense_Mutation_p.E279K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E279K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E279K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E279K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.E279K NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 279 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TGAACCTGATGAAGATTTGAA 0.299 16 44 --- --- --- --- SLITRK2 84631 broad.mit.edu 37 X 144906346 144906346 + Silent SNP C C T TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chrX:144906346C>T ENST00000370490.1 + 1 6658 c.2403C>T c.(2401-2403)acC>acT p.T801T SLITRK2_ENST00000413937.2_Silent_p.T801T|SLITRK2_ENST00000428560.2_Silent_p.T801T|SLITRK2_ENST00000434188.2_Silent_p.T801T|SLITRK2_ENST00000447897.2_Silent_p.T801T Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 801 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) TCAATAAAACCGTTTTATATG 0.468 7 153 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32090268 32090268 + Frame_Shift_Del DEL C C - TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chr5:32090268delC ENST00000438447.1 + 20 7102 c.6714delC c.(6712-6714)cacfs p.H2238fs PDZD2_ENST00000282493.3_Frame_Shift_Del_p.H2238fs O15018 PDZD2_HUMAN PDZ domain containing 2 2238 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GGGAGGGTCACCCCCCACACA 0.637 8 701 --- --- --- --- CXorf22 170063 broad.mit.edu 37 X 36007559 36007559 + Frame_Shift_Del DEL T T - TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88471574-de05-44b5-a205-0a9a7a09c8a7 67774a5a-071c-4f47-93de-783d4e514308 g.chrX:36007559delT ENST00000297866.5 + 16 2903 c.2837delT c.(2836-2838)gttfs p.V946fs NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 946 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 CTAAAATGTGTTGCACATGTA 0.363 38 14 --- --- --- ---