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 ARID1A 8289 broad.mit.edu 37 1 27106761 27106761 + Silent SNP A A G TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr1:27106761A>G ENST00000324856.7 + 20 6743 c.6372A>G c.(6370-6372)aaA>aaG p.K2124K ARID1A_ENST00000540690.1_Silent_p.K452K|ARID1A_ENST00000374152.2_Silent_p.K1741K|ARID1A_ENST00000457599.2_Silent_p.K1907K NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 2124 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.K2124K(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCCTCAGCAAACTCAGCATCC 0.582 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 37 141 --- --- --- --- EPB41 2035 broad.mit.edu 37 1 29314300 29314300 + Silent SNP A A G TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr1:29314300A>G ENST00000343067.4 + 2 478 c.351A>G c.(349-351)gaA>gaG p.E117E EPB41_ENST00000347529.3_Silent_p.E117E|EPB41_ENST00000373798.1_Silent_p.E117E|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000373797.1_Silent_p.E117E|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000398863.2_Silent_p.E117E|EPB41_ENST00000356093.2_Silent_p.E117E NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 117 blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton p.E117E(1) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) AAGAGATAGAATTTGGAACCA 0.423 8 286 --- --- --- --- DMBX1 127343 broad.mit.edu 37 1 46977762 46977762 + Missense_Mutation SNP C C T TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr1:46977762C>T ENST00000371956.4 + 4 760 c.745C>T c.(745-747)Ctc>Ttc p.L249F DMBX1_ENST00000360032.3_Missense_Mutation_p.L244F NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 249 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L249F(1) endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) AGGGGGTGGCCTCCTGGGCCC 0.627 59 289 --- --- --- --- FCGR3B 2215 broad.mit.edu 37 1 161596188 161596188 + Missense_Mutation SNP C C A TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr1:161596188C>A ENST00000294800.3 - 4 597 c.324G>T c.(322-324)tgG>tgT p.W108C FCGR3B_ENST00000531221.1_Missense_Mutation_p.W144C|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.W108C|FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron NM_001244753.1|NM_001271035.1 NP_001231682.1|NP_001257964.1 O75015 FCG3B_HUMAN Fc fragment of IgG, low affinity IIIb, receptor (CD16b) 108 immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity p.W108C(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 18 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GGAGCAACAGCCAGCCTGAAA 0.567 3 50 --- --- --- --- NBAS 51594 broad.mit.edu 37 2 15608534 15608534 + Missense_Mutation SNP C C T TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr2:15608534C>T ENST00000281513.5 - 17 1874 c.1849G>A c.(1849-1851)Gca>Aca p.A617T NBAS_ENST00000441750.1_Missense_Mutation_p.A617T NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 617 p.A617T(1) NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TTCCCTATTGCTAAAAGAGCC 0.413 52 254 --- --- --- --- OSBPL10 114884 broad.mit.edu 37 3 31710253 31710253 + Nonsense_Mutation SNP C C T TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr3:31710253C>T ENST00000396556.2 - 10 2099 c.1977G>A c.(1975-1977)tgG>tgA p.W659* OSBPL10_ENST00000438237.2_Nonsense_Mutation_p.W595* NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 659 lipid transport lipid binding p.W659*(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) AAGTACCATTCCATTCCCCAT 0.433 72 242 --- --- --- --- ACOX3 8310 broad.mit.edu 37 4 8416610 8416610 + Missense_Mutation SNP T T C TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr4:8416610T>C ENST00000356406.5 - 4 501 c.424A>G c.(424-426)Aca>Gca p.T142A ACOX3_ENST00000503233.1_Missense_Mutation_p.T142A|ACOX3_ENST00000413009.2_Missense_Mutation_p.T142A NM_003501.2 NP_003492.2 O15254 ACOX3_HUMAN acyl-CoA oxidase 3, pristanoyl 142 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity p.T142A(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42 TGAATATATGTGAGATGTCTT 0.403 4 109 --- --- --- --- LIMCH1 22998 broad.mit.edu 37 4 41648713 41648713 + Missense_Mutation SNP C C T rs143733086 by1000genomes TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr4:41648713C>T ENST00000313860.7 + 12 1522 c.1468C>T c.(1468-1470)Cgg>Tgg p.R490W LIMCH1_ENST00000508501.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000509277.1_Missense_Mutation_p.R324W|LIMCH1_ENST00000396595.3_Missense_Mutation_p.R336W|LIMCH1_ENST00000511496.1_Missense_Mutation_p.R331W|LIMCH1_ENST00000514096.1_Missense_Mutation_p.R331W|LIMCH1_ENST00000513024.1_Missense_Mutation_p.R319W|LIMCH1_ENST00000503057.1_Missense_Mutation_p.R875W|LIMCH1_ENST00000381753.4_Missense_Mutation_p.R324W|LIMCH1_ENST00000512632.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000512820.1_Missense_Mutation_p.R478W|LIMCH1_ENST00000512946.1_Missense_Mutation_p.R490W NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 490 actomyosin structure organization actin binding|zinc ion binding p.R875W(1)|p.R490W(1) central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 GAAATACCTGCGGCAACAGTC 0.498 10 408 --- --- --- --- LPHN3 23284 broad.mit.edu 37 4 62813888 62813888 + Missense_Mutation SNP G G T TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr4:62813888G>T ENST00000512091.2 + 16 3242 c.2495G>T c.(2494-2496)tGg>tTg p.W832L LPHN3_ENST00000504896.1_Missense_Mutation_p.W832L|LPHN3_ENST00000514591.1_Missense_Mutation_p.W832L|LPHN3_ENST00000506700.1_Missense_Mutation_p.W832L|LPHN3_ENST00000506746.1_Missense_Mutation_p.W900L|LPHN3_ENST00000506720.1_Missense_Mutation_p.W900L|LPHN3_ENST00000509896.1_Missense_Mutation_p.W900L|LPHN3_ENST00000545650.1_Missense_Mutation_p.W832L|LPHN3_ENST00000507164.1_Missense_Mutation_p.W900L|LPHN3_ENST00000508693.1_Missense_Mutation_p.W900L|LPHN3_ENST00000514996.1_Missense_Mutation_p.W832L|LPHN3_ENST00000511324.1_Missense_Mutation_p.W900L|LPHN3_ENST00000507625.1_Missense_Mutation_p.W900L|LPHN3_ENST00000514157.1_Missense_Mutation_p.W832L|LPHN3_ENST00000508946.1_Missense_Mutation_p.W832L Q9HAR2 LPHN3_HUMAN latrophilin 3 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding p.W832L(3) breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 ACAGGTTATTGGTCAACACAA 0.403 14 57 --- --- --- --- SULT1E1 6783 broad.mit.edu 37 4 70721017 70721017 + Splice_Site SNP A A T TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr4:70721017A>T ENST00000226444.3 - 3 384 c.e3+1 NM_005420.2 NP_005411.1 P49888 ST1E1_HUMAN sulfotransferase family 1E, estrogen-preferring, member 1 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity p.?(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 CTTGAACGTTACCATTCATGA 0.318 10 74 --- --- --- --- KIAA1109 84162 broad.mit.edu 37 4 123192755 123192755 + Silent SNP G G A TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr4:123192755G>A ENST00000264501.4 + 47 8449 c.8076G>A c.(8074-8076)gtG>gtA p.V2692V KIAA1109_ENST00000388738.3_Silent_p.V2692V|KIAA1109_ENST00000455637.1_Silent_p.V2692V Q2LD37 K1109_HUMAN KIAA1109 2692 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus p.V2692V(1) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 CAATTACAGTGTCAGAACAAA 0.373 5 89 --- --- --- --- ASB5 140458 broad.mit.edu 37 4 177190130 177190130 + Missense_Mutation SNP C C G TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr4:177190130C>G ENST00000296525.3 - 1 243 c.130G>C c.(130-132)Gtg>Ctg p.V44L NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 44 intracellular signal transduction p.V44L(1) endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) TTGCCTTTCACTATGTAGAAA 0.393 7 128 --- --- --- --- RWDD4 201965 broad.mit.edu 37 4 184567682 184567682 + Missense_Mutation SNP C C G TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr4:184567682C>G ENST00000326397.5 - 6 762 c.490G>C c.(490-492)Gga>Cga p.G164R RWDD4_ENST00000327570.9_Missense_Mutation_p.G164R|RWDD4_ENST00000512740.1_Missense_Mutation_p.G101R|RWDD4_ENST00000510968.1_Missense_Mutation_p.G69R NM_152682.2 NP_689895.2 Q6NW29 RWDD4_HUMAN RWD domain containing 4 164 p.G164R(1) large_intestine(2)|lung(4)|ovary(1)|prostate(1) 8 GGAAGTTCTCCTTTGTGATCT 0.289 8 254 --- --- --- --- IRX1 79192 broad.mit.edu 37 5 3599606 3599606 + Missense_Mutation SNP C C T TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr5:3599606C>T ENST00000302006.3 + 2 596 c.544C>T c.(544-546)Cgc>Tgc p.R182C CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 182 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R182C(1) biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 CGCCAACGCGCGCCGGCGCCT 0.632 22 124 --- --- --- --- FAM169A 26049 broad.mit.edu 37 5 74091853 74091853 + Splice_Site SNP A A G TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr5:74091853A>G ENST00000389156.4 - 11 1351 c.e11+1 FAM169A_ENST00000510496.1_Splice_Site|FAM169A_ENST00000380515.3_Splice_Site NM_015566.2 NP_056381.1 Q9Y6X4 F169A_HUMAN family with sequence similarity 169, member A p.?(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 GTGATCTCATACCTTTTCACC 0.368 5 371 --- --- --- --- TRIM36 55521 broad.mit.edu 37 5 114466559 114466559 + Missense_Mutation SNP C C T TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr5:114466559C>T ENST00000513154.1 - 9 1852 c.1526G>A c.(1525-1527)tGt>tAt p.C509Y TRIM36_ENST00000514154.1_Missense_Mutation_p.C366Y|TRIM36_ENST00000282369.3_Missense_Mutation_p.C521Y Q9NQ86 TRI36_HUMAN tripartite motif containing 36 521 B30.2/SPRY. acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding p.C521Y(2) breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) ATTATAGCCACATTTTTCATC 0.368 25 119 --- --- --- --- C5orf48 389320 broad.mit.edu 37 5 125967461 125967461 + Missense_Mutation SNP C C G TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr5:125967461C>G ENST00000357147.3 + 1 48 c.35C>G c.(34-36)cCt>cGt p.P12R NM_207408.1 NP_997291.1 Q6ZNM6 CE048_HUMAN chromosome 5 open reading frame 48 12 p.P12R(1) large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 7 CCTACTTTGCCTAAACTCACT 0.378 5 170 --- --- --- --- NSD1 64324 broad.mit.edu 37 5 176636871 176636871 + Missense_Mutation SNP G G A TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr5:176636871G>A ENST00000439151.2 + 5 1516 c.1471G>A c.(1471-1473)Gaa>Aaa p.E491K NSD1_ENST00000361032.4_Missense_Mutation_p.E388K|NSD1_ENST00000347982.4_Missense_Mutation_p.E222K|NSD1_ENST00000354179.4_Missense_Mutation_p.E222K NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 491 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding p.E491K(3) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AGATGAGAAGGAAAAGCCTTG 0.408 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 29 115 --- --- --- --- FRMD1 79981 broad.mit.edu 37 6 168461475 168461475 + Missense_Mutation SNP G G T TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr6:168461475G>T ENST00000283309.6 - 9 1372 c.1308C>A c.(1306-1308)agC>agA p.S436R FRMD1_ENST00000537786.1_Missense_Mutation_p.S207R|FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.S368R NM_024919.3 NP_079195.3 Q8N878 FRMD1_HUMAN FERM domain containing 1 436 cytoskeleton binding endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 19 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GGTGGCTGCGGCTGGTCCTGG 0.662 3 36 --- --- --- --- ZNRF2 223082 broad.mit.edu 37 7 30402036 30402036 + Missense_Mutation SNP C C A TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr7:30402036C>A ENST00000323037.4 + 4 1766 c.715C>A c.(715-717)Cac>Aac p.H239N NM_147128.3 NP_667339.1 Q8NHG8 ZNRF2_HUMAN zinc and ring finger 2 239 cell junction|endosome membrane|lysosomal membrane|presynaptic membrane ligase activity|zinc ion binding p.H239N(1) breast(1)|endometrium(1)|lung(2)|prostate(1) 5 TTGCCCTGAGCACCCTTCAGA 0.294 19 106 --- --- --- --- POT1 25913 broad.mit.edu 37 7 124537227 124537227 + Translation_Start_Site SNP T T C TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr7:124537227T>C ENST00000357628.3 - 5 599 c.1A>G c.(1-3)Atg>Gtg p.M1V POT1_ENST00000393329.1_5'UTR NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 1 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity p.M1V(2)|p.M1L(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 ACCAAAGACATTGATTCTGTA 0.303 22 95 --- --- --- --- RP1 6101 broad.mit.edu 37 8 55538481 55538481 + Missense_Mutation SNP C C T TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr8:55538481C>T ENST00000220676.1 + 4 2187 c.2039C>T c.(2038-2040)gCa>gTa p.A680V NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 680 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.A680V(1) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CGACAGCAAGCAATAAATTCC 0.323 5 69 --- --- --- --- PAX5 5079 broad.mit.edu 37 9 36923352 36923352 + Splice_Site SNP C C A TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr9:36923352C>A ENST00000358127.4 - 7 984 c.910G>T c.(910-912)Ggc>Tgc p.G304C PAX5_ENST00000414447.1_Splice_Site_p.G261C|PAX5_ENST00000523145.1_Splice_Site_p.G196C|PAX5_ENST00000522003.1_Splice_Site_p.G196C|PAX5_ENST00000377847.2_Splice_Site_p.G304C|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000446742.1_Splice_Site_p.G238W|PAX5_ENST00000377853.2_Splice_Site_p.G304C|PAX5_ENST00000520281.1_Splice_Site_p.G261C|PAX5_ENST00000377852.2_Splice_Site_p.G304W NM_001280554.1|NM_001280556.1|NM_016734.1 NP_001267483.1|NP_001267485.1|NP_057953.1 Q02548 PAX5_HUMAN paired box 5 304 Breakpoint for translocation to form PAX5-ZNF521. cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(23)|p.G304C(1) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) GTGCCCTCACCTGTCACAATG 0.607 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 40 131 --- --- --- --- ZFAND5 7763 broad.mit.edu 37 9 74970894 74970894 + Missense_Mutation SNP A A C TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr9:74970894A>C ENST00000237937.3 - 6 1174 c.617T>G c.(616-618)gTg>gGg p.V206G ZFAND5_ENST00000376962.5_Missense_Mutation_p.V206G|ZFAND5_ENST00000343431.2_Missense_Mutation_p.V206G|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376960.4_Missense_Mutation_p.V206G NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2 NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1 O76080 ZFAN5_HUMAN zinc finger, AN1-type domain 5 206 DNA binding|zinc ion binding p.V206G(1) cervix(1)|kidney(2)|lung(2)|prostate(1) 6 TTTTTCAGCCACAACAACTGG 0.343 19 104 --- --- --- --- CDH23 64072 broad.mit.edu 37 10 73472477 73472477 + Silent SNP C C A TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr10:73472477C>A ENST00000224721.6 + 27 3296 c.3291C>A c.(3289-3291)gtC>gtA p.V1097V C10orf105_ENST00000441508.2_3'UTR|C10orf105_ENST00000398786.2_3'UTR NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1092 Cadherin 10. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding p.V1097V(1) NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 TCGTCACTGTCCTGGATGTGA 0.582 3 39 --- --- --- --- TM7SF2 7108 broad.mit.edu 37 11 64880871 64880871 + Missense_Mutation SNP C C T TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr11:64880871C>T ENST00000279263.7 + 4 646 c.484C>T c.(484-486)Cct>Tct p.P162S TM7SF2_ENST00000540748.1_Missense_Mutation_p.P46S|TM7SF2_ENST00000531029.1_3'UTR|TM7SF2_ENST00000345348.5_Missense_Mutation_p.P162S NM_003273.2 NP_003264.2 O76062 ERG24_HUMAN transmembrane 7 superfamily member 2 162 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane delta14-sterol reductase activity p.P162S(1) lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GGCCCTGGCACCTGGGGGGAA 0.587 OREG0021072 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 170 --- --- --- --- ATF7IP 55729 broad.mit.edu 37 12 14649241 14649241 + Missense_Mutation SNP G G C TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr12:14649241G>C ENST00000544627.1 + 14 3701 c.3381G>C c.(3379-3381)caG>caC p.Q1127H ATF7IP_ENST00000536444.1_Missense_Mutation_p.Q1118H|ATF7IP_ENST00000540793.1_Missense_Mutation_p.Q1119H|ATF7IP_ENST00000261168.4_Missense_Mutation_p.Q1119H Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 1119 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding p.Q1119H(1) cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 CAGGACCTCAGCTCACAGTGC 0.383 19 59 --- --- --- --- ERBB3 2065 broad.mit.edu 37 12 56481946 56481946 + Splice_Site SNP C C A TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr12:56481946C>A ENST00000267101.3 + 7 1314 c.874C>A c.(874-876)Cat>Aat p.H292N ERBB3_ENST00000415288.2_Splice_Site_p.H233N|ERBB3_ENST00000450146.2_Intron NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 292 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.H292N(2) central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CAGCTGTCCCCGTAAGTGTCT 0.443 3 81 --- --- --- --- APAF1 317 broad.mit.edu 37 12 99043447 99043447 + Missense_Mutation SNP C C T TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr12:99043447C>T ENST00000357310.1 + 4 1088 c.511C>T c.(511-513)Cat>Tat p.H171Y APAF1_ENST00000552268.1_Missense_Mutation_p.H171Y|APAF1_ENST00000359972.2_Missense_Mutation_p.H160Y|APAF1_ENST00000551964.1_Missense_Mutation_p.H171Y|APAF1_ENST00000333991.1_Missense_Mutation_p.H171Y|APAF1_ENST00000339433.3_Missense_Mutation_p.H171Y|APAF1_ENST00000547045.1_Missense_Mutation_p.H171Y|APAF1_ENST00000550527.1_Missense_Mutation_p.H160Y|APAF1_ENST00000549007.1_Missense_Mutation_p.H171Y NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 171 NB-ARC. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding p.H171Y(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) TGTTAGAGATCATTCCCTTTT 0.383 5 58 --- --- --- --- TUBA3C 7278 broad.mit.edu 37 13 19748209 19748209 + Missense_Mutation SNP C C T TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr13:19748209C>T ENST00000400113.3 - 5 1251 c.1147G>A c.(1147-1149)Gcc>Acc p.A383T NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 383 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity p.A383T(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TCCGCGATGGCCGTGGTGTTG 0.637 42 85 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 107863055 107863055 + Missense_Mutation SNP A A G TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr13:107863055A>G ENST00000375915.2 - 2 1102 c.964T>C c.(964-966)Ttt>Ctt p.F322L NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 322 integral to membrane binding p.F322L(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 CTGCAGTTAAACTGTGTGACT 0.408 OREG0022506 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 102 --- --- --- --- NIPA2 81614 broad.mit.edu 37 15 23006760 23006760 + Missense_Mutation SNP T T A TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr15:23006760T>A ENST00000337451.3 - 8 1156 c.544A>T c.(544-546)Ata>Tta p.I182L NIPA2_ENST00000398014.2_Missense_Mutation_p.I182L|NIPA2_ENST00000359727.4_Missense_Mutation_p.I163L|NIPA2_ENST00000398013.3_Missense_Mutation_p.I182L|NIPA2_ENST00000539711.2_Missense_Mutation_p.I163L NM_030922.6 NP_112184.4 Q8N8Q9 NIPA2_HUMAN non imprinted in Prader-Willi/Angelman syndrome 2 182 early endosome|integral to membrane|plasma membrane p.I163L(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353) CAGATTGTTATGTACACAAGA 0.502 3 74 --- --- --- --- ACTC1 70 broad.mit.edu 37 15 35086889 35086889 + Missense_Mutation SNP G G A TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr15:35086889G>A ENST00000290378.4 - 2 776 c.121C>T c.(121-123)Cgg>Tgg p.R41W RP11-814P5.1_ENST00000503496.1_RNA NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 41 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding p.R41W(1) central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) ACCTGGTGCCGCGGGCGGCCC 0.672 9 47 --- --- --- --- IREB2 3658 broad.mit.edu 37 15 78777134 78777134 + Missense_Mutation SNP A A G TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr15:78777134A>G ENST00000258886.8 + 12 1594 c.1445A>G c.(1444-1446)gAa>gGa p.E482G NM_004136.2 NP_004127 P48200 IREB2_HUMAN iron-responsive element binding protein 2 482 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding p.E482G(1) central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) ATTGCAGCTGAAAAACAAAAG 0.333 3 139 --- --- --- --- FANCI 55215 broad.mit.edu 37 15 89811688 89811688 + Missense_Mutation SNP A A G TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr15:89811688A>G ENST00000310775.7 + 10 900 c.814A>G c.(814-816)Att>Gtt p.I272V FANCI_ENST00000300027.8_Missense_Mutation_p.I272V NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 272 cell cycle|DNA repair nucleoplasm protein binding p.I272V(1) breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) AGGCACCATTATTCTACACAT 0.413 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 9 358 --- --- --- --- PLCG2 5336 broad.mit.edu 37 16 81944188 81944188 + Silent SNP C C T TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr16:81944188C>T ENST00000359376.3 + 18 2011 c.1797C>T c.(1795-1797)taC>taT p.Y599Y NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 599 SH2 1. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.Y599Y(3) NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 CCCTGAAATACTACTTGACTG 0.647 6 230 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29528486 29528486 + Missense_Mutation SNP C C T TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr17:29528486C>T ENST00000358273.4 + 11 1626 c.1243C>T c.(1243-1245)Cat>Tat p.H415Y NF1_ENST00000356175.3_Missense_Mutation_p.H415Y|NF1_ENST00000431387.4_Missense_Mutation_p.H415Y NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 415 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(6)|p.H415Y(2) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AAATTCACTCCATCGAATCAT 0.303 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 5 286 --- --- --- --- UBTF 7343 broad.mit.edu 37 17 42293127 42293127 + Silent SNP G G A TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr17:42293127G>A ENST00000302904.4 - 5 861 c.369C>T c.(367-369)ttC>ttT p.F123F UBTF_ENST00000393606.3_Silent_p.F123F|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000343638.5_Silent_p.F123F|UBTF_ENST00000527034.1_Silent_p.F123F|UBTF_ENST00000529383.1_Silent_p.F123F|UBTF_ENST00000526094.1_Silent_p.F123F|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000533177.1_Silent_p.F123F|UBTF_ENST00000436088.1_Silent_p.F123F P17480 UBF1_HUMAN upstream binding transcription factor, RNA polymerase I 123 positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding p.F123F(1)|p.F123delF(1) breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) GCTTCTCCATGAAGAAGCGGA 0.493 51 138 --- --- --- --- SLC16A6 9120 broad.mit.edu 37 17 66267452 66267452 + Silent SNP T T C TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr17:66267452T>C ENST00000327268.4 - 6 1013 c.849A>G c.(847-849)ctA>ctG p.L283L SLC16A6_ENST00000580666.1_Silent_p.L283L|ARSG_ENST00000448504.2_Intron NM_001174166.1 NP_001167637.1 O15403 MOT7_HUMAN solute carrier family 16, member 6 283 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity p.L283L(1) large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2) 15 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) AGAAGTCTAATAGCGGGGCTT 0.463 3 123 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9047100 9047100 + Missense_Mutation SNP G G A TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr19:9047100G>A ENST00000397910.4 - 5 34734 c.34531C>T c.(34531-34533)Cat>Tat p.H11511Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11513 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.H11511Y(1)|p.H7144Y(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GACTTACTATGGGAAAACTTG 0.498 53 140 --- --- --- --- ZNF98 148198 broad.mit.edu 37 19 22574557 22574557 + Nonsense_Mutation SNP C C A TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr19:22574557C>A ENST00000357774.5 - 4 1601 c.1480G>T c.(1480-1482)Gaa>Taa p.E494* NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 494 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E494Q(2)|p.E494*(2) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) TTGCCACATTCTTCACATTTG 0.403 4 183 --- --- --- --- CEACAM3 1084 broad.mit.edu 37 19 42312921 42312921 + Silent SNP G G A rs61747599 byFrequency TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea9dfa9-b503-4f82-9fed-5b88c43074f8 5d8deeb6-3e5f-422d-b7ff-d35db9198e0d g.chr19:42312921G>A ENST00000357396.3 + 3 736 c.495G>A c.(493-495)gcG>gcA p.A165A CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Silent_p.A165A|CEACAM3_ENST00000221999.4_Silent_p.A165A NM_001815.2 NP_001806.2 P40198 CEAM3_HUMAN carcinoembryonic antigen-related cell adhesion molecule 3 165 integral to membrane p.A165A(1) endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1) 19 TCGGAGTGGCGCTGGTGGCCG 0.607 72 282 --- --- --- ---