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 NCOA5 57727 broad.mit.edu 37 20 44698855 44698855 + Missense_Mutation SNP A A G TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr20:44698855A>G ENST00000290231.6 - 3 523 c.359T>C c.(358-360)aTg>aCg p.M120T NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 120 Arg/Asp-rich (mixed charge).|Transcription repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) GTACCTGTACATAGGATCTCG 0.403000 20 30 0 0 1 0 0 FGR 2268 broad.mit.edu 37 1 27949604 27949604 + Missense_Mutation SNP T T G TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr1:27949604T>G ENST00000374005.3 - 4 566 c.278A>C c.(277-279)gAg>gCg p.E93A FGR_ENST00000545953.1_Missense_Mutation_p.E93A|FGR_ENST00000399173.1_Missense_Mutation_p.E93A|FGR_ENST00000374004.1_Missense_Mutation_p.E93A NM_005248.2 NP_005239.1 P09769 FGR_HUMAN feline Gardner-Rasheed sarcoma viral oncogene homolog 93 SH3. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GAGGTCATCCTCAGTTCGAGC 0.562000 14 48 0 0 1 0 0 UST 10090 broad.mit.edu 37 6 149340286 149340286 + Missense_Mutation SNP G G T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr6:149340286G>T ENST00000367463.4 + 6 796 c.693G>T c.(691-693)gaG>gaT p.E231D NM_005715.2 NP_005706.1 Q9Y2C2 UST_HUMAN uronyl-2-sulfotransferase 231 protein sulfation Golgi membrane|integral to membrane sulfotransferase activity breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2) 12 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138) ATATCAATGAGTGTATTCTTG 0.408000 27 54 1.33986e-20 1.68166e-20 1 1 0 SLC44A5 204962 broad.mit.edu 37 1 75677213 75677213 + Missense_Mutation SNP T T G TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr1:75677213T>G ENST00000370855.5 - 23 2100 c.1987A>C c.(1987-1989)Att>Ctt p.I663L SLC44A5_ENST00000370859.3_Missense_Mutation_p.I663L|SLC44A5_ENST00000535611.1_Missense_Mutation_p.I533L NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 663 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 CCATGTGCAATCAGGTAAGAC 0.383000 24 59 0 0 1 0 0 HLA-DMA 3108 broad.mit.edu 37 6 32917487 32917487 + Nonsense_Mutation SNP G G A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr6:32917487G>A ENST00000374843.4 - 3 638 c.553C>T c.(553-555)Cag>Tag p.Q185* HLA-DMA_ENST00000464392.1_5'UTR|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395305.3_Nonsense_Mutation_p.Q90*|HLA-DMA_ENST00000395303.3_Nonsense_Mutation_p.Q151* NM_006120.3 NP_006111.2 Q31604 Q31604_HUMAN major histocompatibility complex, class II, DM alpha 185 integral to membrane|MHC class II protein complex kidney(1)|large_intestine(2)|lung(8) 11 GAAAAGGCCTGGAAGCTGAGT 0.488000 14 58 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70505430 70505430 + Nonsense_Mutation SNP G G A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr1:70505430G>A ENST00000310961.5 + 22 4242 c.3824G>A c.(3823-3825)tGg>tAg p.W1275* LRRC7_ENST00000415775.2_Nonsense_Mutation_p.W554*|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.W1270* Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1270 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CCTGCAGACTGGAGACAACAG 0.448000 16 108 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 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 7 65 0 0 1 0 0 FAM129C 199786 broad.mit.edu 37 19 17662618 17662618 + Missense_Mutation SNP G G A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr19:17662618G>A ENST00000332386.5 + 16 2005 c.1867G>A c.(1867-1869)Gaa>Aaa p.E623K FAM129C_ENST00000601861.1_Intron|FAM129C_ENST00000352727.3_Missense_Mutation_p.E587K|FAM129C_ENST00000600871.1_Missense_Mutation_p.E541K|FAM129C_ENST00000599124.1_Missense_Mutation_p.E556K|FAM129C_ENST00000449408.2_Intron|FAM129C_ENST00000599164.1_Missense_Mutation_p.E592K|FAM129C_ENST00000335393.4_Intron NM_001098524.1 NP_001091994.1 Q86XR2 NIBL2_HUMAN family with sequence similarity 129, member C 0 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 ggctgagcgggaaggaggggc 0.507000 6 19 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 611697 611697 + Missense_Mutation SNP G G A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr11:611697G>A ENST00000264555.5 + 18 4998 c.4870G>A c.(4870-4872)Gtg>Atg p.V1624M PHRF1_ENST00000416188.2_Missense_Mutation_p.V1623M|PHRF1_ENST00000533464.1_Missense_Mutation_p.V1620M|PHRF1_ENST00000413872.2_Missense_Mutation_p.V1622M NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 1624 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 GAAGGCGTACGTGGACAAGTA 0.607000 10 31 0 0 1 0 0 GABRA4 2557 broad.mit.edu 37 4 46976251 46976251 + Missense_Mutation SNP G G A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr4:46976251G>A ENST00000264318.3 - 6 1701 c.719C>T c.(718-720)aCg>aTg p.T240M NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 240 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.T240M(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CATCTCACCCGTAATTGATTT 0.368000 23 72 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20480877 20480877 + Missense_Mutation SNP C C G TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr16:20480877C>G ENST00000573854.1 + 4 546 c.432C>G c.(430-432)gaC>gaG p.D144E ACSM2A_ENST00000396104.2_Missense_Mutation_p.D144E|ACSM2A_ENST00000424070.1_Missense_Mutation_p.D144E|ACSM2A_ENST00000219054.6_Missense_Mutation_p.D144E|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000417235.2_Missense_Mutation_p.D65E|ACSM2A_ENST00000575690.1_Missense_Mutation_p.D144E|ACSM2A_ENST00000575558.1_3'UTR NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 144 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 AATCCACTGACATACTGTATA 0.428000 25 92 0 0 1 0 0 LMAN1L 79748 broad.mit.edu 37 15 75111615 75111615 + Splice_Site SNP T T A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr15:75111615T>A ENST00000309664.5 + 6 857 c.e6+2 LMAN1L_ENST00000379709.3_Silent_p.G240G NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCCTGGCAGGTGAGGATCCCA 0.577000 22 96 0 0 1 0 0 TCP11L2 255394 broad.mit.edu 37 12 106715424 106715424 + Missense_Mutation SNP C C G TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr12:106715424C>G ENST00000546625.1 + 5 734 c.575C>G c.(574-576)cCc>cGc p.P192R TCP11L2_ENST00000552690.1_3'UTR|TCP11L2_ENST00000299045.3_Missense_Mutation_p.P192R|TCP11L2_ENST00000547153.1_Missense_Mutation_p.P192R Q8N4U5 T11L2_HUMAN t-complex 11, testis-specific-like 2 192 endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 CTGTGTGCTCCCGTGCGAGAT 0.488000 15 56 0 0 1 0 0 MTF1 4520 broad.mit.edu 37 1 38280891 38280891 + Missense_Mutation SNP C C A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr1:38280891C>A ENST00000373036.4 - 11 2319 c.2179G>T c.(2179-2181)Gac>Tac p.D727Y NM_005955.2 NP_005946.2 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 727 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GACGGGGTGTCCAGGCTCTGG 0.547000 22 71 1.55795e-14 1.8973e-14 1 1 0 PKD1L2 114780 broad.mit.edu 37 16 81232395 81232395 + Missense_Mutation SNP A A G TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr16:81232395A>G ENST00000599697.1 - 7 1414 c.1415T>C c.(1414-1416)aTc>aCc p.I472T PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 472 REJ. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 AGCCAATGAGATGGTGATCAA 0.552000 11 80 0 0 1 0 0 NOP2 4839 broad.mit.edu 37 12 6675948 6675948 + Silent SNP T T C TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr12:6675948T>C ENST00000541778.1 - 3 632 c.144A>G c.(142-144)cgA>cgG p.R48R NOP2_ENST00000537442.1_Silent_p.R48R|NOP2_ENST00000322166.5_Silent_p.R48R|NOP2_ENST00000399466.2_Silent_p.R48R|NOP2_ENST00000382421.3_Silent_p.R48R|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000545915.1_Silent_p.R48R|NOP2_ENST00000540228.1_Silent_p.R48R|NOP2_ENST00000545200.1_Silent_p.R48R P46087 NOP2_HUMAN NOP2 nucleolar protein 48 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 19 CTTACCTCTTTCGAGCACGAC 0.393000 4 12 0 0 1 0 0 KRTAP5-11 440051 broad.mit.edu 37 11 71293642 71293642 + Missense_Mutation SNP C C A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr11:71293642C>A ENST00000398530.1 - 1 279 c.242G>T c.(241-243)gGc>gTc p.G81V KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron NM_001005405.2 NP_001005405.1 Q6L8G4 KR511_HUMAN keratin associated protein 5-11 81 6 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 CTGGGAGCAGCCACAAGAACC 0.622000 34 125 1.99505e-19 2.4787e-19 1 1 0 CEP170B 283638 broad.mit.edu 37 14 105355939 105355939 + Missense_Mutation SNP G G T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr14:105355939G>T ENST00000453495.1 + 13 4058 c.3830G>T c.(3829-3831)cGc>cTc p.R1277L CEP170B_ENST00000556508.1_Missense_Mutation_p.R1206L|CEP170B_ENST00000414716.3_Intron|CEP170B_ENST00000418279.1_Intron centrosomal protein 170B AAACACACACGCTCCCACACC 0.687000 8 30 9.70103e-10 1.13641e-09 1 1 0 RBM10 8241 broad.mit.edu 37 X 47045191 47045191 + Splice_Site SNP T T A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chrX:47045191T>A ENST00000377604.3 + 21 3172 c.e21+2 RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Splice_Site|RBM10_ENST00000329236.7_Splice_Site NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 GACATGGAGGTGAGGTGTGAC 0.542000 7 11 0 0 1 0 0 RRP1 8568 broad.mit.edu 37 21 45217430 45217430 + Missense_Mutation SNP G G A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr21:45217430G>A ENST00000497547.1 + 6 667 c.550G>A c.(550-552)Gag>Aag p.E184K RRP1_ENST00000471909.1_3'UTR NM_003683.5 NP_003674.1 P56182 RRP1_HUMAN ribosomal RNA processing 1 184 rRNA processing nucleolus|preribosome, small subunit precursor central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) GGGCGCCGAGGAGGTGAGGCT 0.637000 18 64 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296463 145296463 + Missense_Mutation SNP G G T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr1:145296463G>T ENST00000342960.5 + 3 420 c.385G>T c.(385-387)Gcc>Tcc p.A129S NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 129 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GCATCTCCAGGCCCTCCTCAC 0.567000 39 132 2.23852e-25 2.86811e-25 1 1 0 KCNC2 3747 broad.mit.edu 37 12 75601607 75601607 + Nonsense_Mutation SNP T T A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr12:75601607T>A ENST00000549446.1 - 2 837 c.157A>T c.(157-159)Aag>Tag p.K53* KCNC2_ENST00000341669.3_Nonsense_Mutation_p.K53*|KCNC2_ENST00000540018.1_Nonsense_Mutation_p.K53*|KCNC2_ENST00000298972.1_Nonsense_Mutation_p.K53*|KCNC2_ENST00000548513.1_Nonsense_Mutation_p.K53*|KCNC2_ENST00000393288.2_Nonsense_Mutation_p.K53*|KCNC2_ENST00000550433.1_Nonsense_Mutation_p.K53*|KCNC2_ENST00000350228.2_Nonsense_Mutation_p.K53* NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 53 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 ggctgcagcTTGTCGCCCGCC 0.731000 6 13 0 0 1 0 0 PEAR1 375033 broad.mit.edu 37 1 156876638 156876638 + Missense_Mutation SNP G G A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr1:156876638G>A ENST00000338302.3 + 7 835 c.610G>A c.(610-612)Gcc>Acc p.A204T PEAR1_ENST00000292357.7_Missense_Mutation_p.A204T Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 204 integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCAGACTGGAGCCTGCTTCTG 0.612000 11 56 0 0 1 0 0 SUMO3 6612 broad.mit.edu 37 21 46229022 46229022 + Missense_Mutation SNP C C T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr21:46229022C>T ENST00000332859.6 - 3 322 c.162G>A c.(160-162)atG>atA p.M54I SUMO3_ENST00000397898.3_Missense_Mutation_p.M54I|SUMO3_ENST00000411651.2_Missense_Mutation_p.M92I|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000397893.3_Missense_Mutation_p.M54I NM_006936.2 NP_008867.2 P55854 SUMO3_HUMAN small ubiquitin-like modifier 3 54 Ubiquitin-like. protein sumoylation cytoplasm|kinetochore protein binding prostate(1) 1 Colorectal(79;0.058) TGATCTGCCTCATTGACAAGC 0.542000 7 35 0 0 1 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55285064 55285064 + Missense_Mutation SNP C C T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr19:55285064C>T ENST00000336077.6 + 3 390 c.350C>T c.(349-351)cCt>cTt p.P117L KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.P117L|KIR2DL3_ENST00000434419.2_Intron NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 117 immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CCCAGTGACCCTCTGGACATC 0.517000 72 230 0 0 1 0 0 ZFP36L1 677 broad.mit.edu 37 14 69256600 69256600 + Missense_Mutation SNP G G A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr14:69256600G>A ENST00000439696.2 - 2 968 c.667C>T c.(667-669)Ccc>Tcc p.P223S ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.P223S NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 223 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) ATGGACGTGGGGCTGTCCAGC 0.647000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 94 0 0 1 0 0 LCA5L 150082 broad.mit.edu 37 21 40781904 40781904 + Splice_Site SNP C C A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr21:40781904C>A ENST00000358268.2 - 9 1811 c.e9+1 LCA5L_ENST00000495240.1_Splice_Site|WRB_ENST00000541890.1_Intron|LCA5L_ENST00000288350.3_Splice_Site|LCA5L_ENST00000380671.2_Splice_Site O95447 LCA5L_HUMAN Leber congenital amaurosis 5-like breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 24 Prostate(19;1.2e-06) GTTAAAATTACCTTCATATTT 0.299000 3 26 0.004672 0.00474922 1 1 0 RCC2 55920 broad.mit.edu 37 1 17735597 17735597 + Nonsense_Mutation SNP G G A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr1:17735597G>A ENST00000375436.4 - 13 1745 c.1558C>T c.(1558-1560)Cga>Tga p.R520* RCC2_ENST00000375433.3_Nonsense_Mutation_p.R520* NM_018715.3 NP_061185.1 Q9P258 RCC2_HUMAN regulator of chromosome condensation 2 520 cell division|mitotic prometaphase chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4) 17 Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19) CAGAGGGTTCGGGGGTTGTAT 0.532000 16 72 0 0 1 0 0 RASSF1 11186 broad.mit.edu 37 3 50369278 50369278 + Missense_Mutation SNP C C A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr3:50369278C>A ENST00000359365.4 - 4 578 c.472G>T c.(472-474)Ggt>Tgt p.G158C RASSF1_ENST00000327761.3_Missense_Mutation_p.G88C|RASSF1_ENST00000395126.3_Missense_Mutation_p.G7C|RASSF1_ENST00000357043.2_Missense_Mutation_p.G162C NM_001206957.1|NM_007182.4|NM_170714.1 NP_001193886.1|NP_009113.3|NP_733832.1 Q9NS23 RASF1_HUMAN Ras association (RalGDS/AF-6) domain family member 1 162 cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole identical protein binding|protein binding|protein N-terminus binding|zinc ion binding lung(2)|ovary(1)|skin(1)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GTGTAAGAACCGTCCTTGTTC 0.522000 8 32 0.000274275 0.000285897 1 1 0 PDGFRB 5159 broad.mit.edu 37 5 149502656 149502656 + Missense_Mutation SNP G G T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr5:149502656G>T ENST00000261799.4 - 15 2601 c.2132C>A c.(2131-2133)cCc>cAc p.P711H NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 711 Protein kinase. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CTCCGCGCTGGGCGGGCGGCG 0.612000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 13 55 1.5842e-08 1.78768e-08 1 1 0 WDR73 84942 broad.mit.edu 37 15 85186921 85186921 + Missense_Mutation SNP G G C TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr15:85186921G>C ENST00000434634.2 - 8 977 c.917C>G c.(916-918)aCa>aGa p.T306R WDR73_ENST00000398528.3_5'UTR NM_032856.2 NP_116245.2 Q6P4I2 WDR73_HUMAN WD repeat domain 73 306 cervix(1)|large_intestine(1)|lung(1) 3 ATCCCAAGATGTGGCATCATA 0.423000 3 8 0 0 1 0 0 ISG20 3669 broad.mit.edu 37 15 89195490 89195490 + Missense_Mutation SNP G G C TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr15:89195490G>C ENST00000306072.5 + 3 736 c.378G>C c.(376-378)agG>agC p.R126S ISG20_ENST00000560741.1_Missense_Mutation_p.R126S|ISG20_ENST00000560746.1_3'UTR NM_002201.4 NP_002192.2 Q96AZ6 ISG20_HUMAN interferon stimulated exonuclease gene 20kDa 126 cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway PML body 3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity large_intestine(1)|lung(3)|prostate(1) 5 Lung NSC(78;0.0554)|all_lung(78;0.103) BRCA - Breast invasive adenocarcinoma(143;0.12) ACCACTGCAGGCGTGTCTCCC 0.612000 12 59 0 0 1 0 0 DUOXA1 90527 broad.mit.edu 37 15 45410220 45410220 + Missense_Mutation SNP C C A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr15:45410220C>A ENST00000267803.4 - 10 1438 c.1039G>T c.(1039-1041)Gcg>Tcg p.A347S DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000559014.1_Missense_Mutation_p.A347S|DUOXA1_ENST00000430224.2_Missense_Mutation_p.A302S|DUOXA2_ENST00000323030.5_3'UTR NM_144565.2 NP_653166.2 Q1HG43 DOXA1_HUMAN dual oxidase maturation factor 1 0 protein transport endoplasmic reticulum membrane|integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686) GCTGCTGGCGCGAGGCCTCGG 0.567000 OREG0023102 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 35 3.27435e-08 3.66132e-08 1 1 0 CCSER1 401145 broad.mit.edu 37 4 91229944 91229944 + Missense_Mutation SNP G G A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr4:91229944G>A ENST00000509176.1 + 2 797 c.509G>A c.(508-510)cGt>cAt p.R170H CCSER1_ENST00000333691.8_Missense_Mutation_p.R170H|CCSER1_ENST00000432775.2_Missense_Mutation_p.R170H NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 GACCAAACTCGTCGTTCTGTT 0.378000 8 40 0 0 1 0 0 KRTAP8-1 337879 broad.mit.edu 37 21 32185397 32185397 + Missense_Mutation SNP C C T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr21:32185397C>T ENST00000329621.4 - 1 173 c.142G>A c.(142-144)Ggc>Agc p.G48S NM_175857.3 NP_787053.1 Q8IUC2 KRA81_HUMAN keratin associated protein 8-1 48 12 X 2 AA repeats of G-[YCGS]. intermediate filament central_nervous_system(1)|large_intestine(1)|lung(4) 6 GCCCCACAGCCGTTGTAGCCA 0.562000 14 64 0 0 1 0 0 MYL6 4637 broad.mit.edu 37 12 56552340 56552340 + Missense_Mutation SNP G G A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr12:56552340G>A ENST00000536128.1 + 1 195 c.155G>A c.(154-156)gGg>gAg p.G52E MYL6_ENST00000547649.1_Intron|MYL6_ENST00000348108.4_Intron|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000549566.1_Missense_Mutation_p.G52E|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000548580.1_Intron|RP11-603J24.18_ENST00000548571.1_RNA|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000293422.5_Intron P60660 MYL6_HUMAN myosin, light chain 6, alkali, smooth muscle and non-muscle 0 axon guidance|muscle filament sliding|skeletal muscle tissue development cytosol|unconventional myosin complex actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(18;0.0979) GGCCCTGCGGGGAAGCGAGTC 0.597000 15 46 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76939451 76939451 + Missense_Mutation SNP T T C TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chrX:76939451T>C ENST00000373344.5 - 9 1511 c.1297A>G c.(1297-1299)Aaa>Gaa p.K433E ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K395E NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 433 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TCTATGACTTTATGCTCTTTG 0.363000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 79 88 0 0 1 0 0 OR2H1 26716 broad.mit.edu 37 6 29429827 29429827 + Missense_Mutation SNP G G A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr6:29429827G>A ENST00000377136.1 + 4 746 c.281G>A c.(280-282)gGa>gAa p.G94E OR2H1_ENST00000377133.1_Missense_Mutation_p.G94E|OR2H1_ENST00000377132.1_Missense_Mutation_p.G94E|OR2H1_ENST00000442615.1_Missense_Mutation_p.G94E|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000396792.2_Missense_Mutation_p.G94E Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, member 1 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 AGCTTCCTGGGATGCTCTGTC 0.567000 25 68 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118451893 118451893 + Missense_Mutation SNP G G T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr5:118451893G>T ENST00000311085.8 + 7 685 c.605G>T c.(604-606)tGg>tTg p.W202L DMXL1_ENST00000539542.1_Missense_Mutation_p.W202L NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 202 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GTAGAAAACTGGCGGACAGCT 0.353000 14 69 1.5842e-08 1.78768e-08 1 1 0 SPATA9 83890 broad.mit.edu 37 5 95018282 95018282 + Nonsense_Mutation SNP C C A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr5:95018282C>A ENST00000274432.8 - 2 241 c.100G>T c.(100-102)Gag>Tag p.E34* RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Nonsense_Mutation_p.E34* NM_031952.3 NP_114158.2 Q9BWV2 SPAT9_HUMAN spermatogenesis associated 9 34 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane large_intestine(3)|lung(4) 7 all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.91e-16) TCTTTAAACTCATCTACAAGG 0.318000 14 57 6.72482e-11 8.10935e-11 1 1 0 PTGFRN 5738 broad.mit.edu 37 1 117491977 117491977 + Silent SNP G G A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr1:117491977G>A ENST00000393203.2 + 4 1143 c.996G>A c.(994-996)gcG>gcA p.A332A NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 332 Ig-like C2-type 3. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) GCGTGTTGGCGCGGCTTGACC 0.582000 17 73 0 0 1 0 0 ZCWPW1 55063 broad.mit.edu 37 7 100017350 100017350 + Missense_Mutation SNP T T C TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr7:100017350T>C ENST00000398027.2 - 4 432 c.185A>G c.(184-186)aAg>aGg p.K62R ZCWPW1_ENST00000490721.1_5'UTR|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.K62R|ZCWPW1_ENST00000324725.6_5'UTR NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 62 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TTCCTCTTTCTTCTTTAAACT 0.468000 10 59 0 0 1 0 0 SPATA31C1 441452 broad.mit.edu 37 9 90534212 90534212 + RNA SNP A A G rs654472 by1000genomes TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr9:90534212A>G ENST00000602681.1 + 0 958 CCAGTGTCCAACAGGGCGGAG 0.582000 5 54 0 0 1 0 0 MAP4K3 8491 broad.mit.edu 37 2 39542450 39542450 + Splice_Site SNP C C A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr2:39542450C>A ENST00000263881.3 - 13 1322 c.e13+1 MAP4K3_ENST00000341681.5_Splice_Site|MAP4K3_ENST00000536018.1_Splice_Site|MAP4K3_ENST00000437545.1_Splice_Site NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) TATATACTTACAGGTTATCTC 0.284000 13 60 0.000219431 0.000232673 1 1 0 PRSS35 167681 broad.mit.edu 37 6 84233317 84233317 + Missense_Mutation SNP G G C TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr6:84233317G>C ENST00000536636.1 + 3 502 c.157G>C c.(157-159)Gat>Cat p.D53H PRSS35_ENST00000369700.3_Missense_Mutation_p.D53H NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 53 proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) ATTTGAGGCAGATGCTAAGAT 0.458000 6 95 0 0 1 0 0 FMO2 2327 broad.mit.edu 37 1 171168560 171168560 + Missense_Mutation SNP T T C TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr1:171168560T>C ENST00000441535.1 + 5 677 c.560T>C c.(559-561)aTc>aCc p.I187T FMO2_ENST00000209929.7_Missense_Mutation_p.I187T|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000529935.1_Intron|RP1-127D3.4_ENST00000445909.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA NM_001460.2 NP_001451.1 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 (non-functional) 187 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GGAAAACGCATCCTGGTGATT 0.478000 21 83 0 0 1 0 0 HAS1 3036 broad.mit.edu 37 19 52220303 52220303 + Missense_Mutation SNP G G T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr19:52220303G>T ENST00000540069.2 - 3 903 c.843C>A c.(841-843)agC>agA p.S281R HAS1_ENST00000601714.1_Missense_Mutation_p.S289R|HAS1_ENST00000222115.1_Missense_Mutation_p.S282R|HAS1_ENST00000594621.1_Missense_Mutation_p.S136R Q92839 HAS1_HUMAN hyaluronan synthase 1 282 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) AGTATCGCAGGCTGCTTAGGA 0.597000 29 73 2.2171e-23 2.81138e-23 1 1 0 CMKLR1 1240 broad.mit.edu 37 12 108686360 108686360 + Missense_Mutation SNP A A T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr12:108686360A>T ENST00000397688.2 - 3 743 c.374T>A c.(373-375)gTc>gAc p.V125D CMKLR1_ENST00000552995.1_Missense_Mutation_p.V125D|CMKLR1_ENST00000412676.1_Missense_Mutation_p.V127D|CMKLR1_ENST00000550402.1_Missense_Mutation_p.V127D|CMKLR1_ENST00000312143.7_Missense_Mutation_p.V127D NM_004072.2 NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 127 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 CAGCAGGAAGACGCTGGTGAA 0.557000 17 54 0 0 1 0 0 AK7 122481 broad.mit.edu 37 14 96864548 96864548 + Missense_Mutation SNP C C T rs140870082 byFrequency TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr14:96864548C>T ENST00000267584.4 + 2 286 c.242C>T c.(241-243)aCg>aTg p.T81M AK7_ENST00000555570.1_Missense_Mutation_p.T81M|AK7_ENST00000554313.1_3'UTR NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 81 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) ATTGTGGGCACGCTGTCCAAG 0.532000 20 58 0 0 1 0 0 C8orf76 84933 broad.mit.edu 37 8 124250098 124250098 + Missense_Mutation SNP C C A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr8:124250098C>A ENST00000276704.4 - 3 348 c.297G>T c.(295-297)caG>caT p.Q99H ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.Q67H|C8orf76_ENST00000521310.1_5'UTR NM_032847.2 NP_116236.1 Q96K31 CH076_HUMAN chromosome 8 open reading frame 76 99 binding NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4) 17 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) GACACCGAGCCTGACCTTCCT 0.428000 4 35 0.00024832 0.000261054 1 1 0 GOLGA2P9 440518 broad.mit.edu 37 19 22786174 22786174 + RNA SNP C C A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr19:22786174C>A ENST00000599738.1 + 0 104 CTC-457E21.3_ENST00000600260.1_RNA GGCAGCATCCCCTGCATTCTG 0.577000 3 3 0.004672 0.00474922 1 1 0 OR10X1 128367 broad.mit.edu 37 1 158548799 158548799 + Missense_Mutation SNP G G T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr1:158548799G>T ENST00000368150.1 - 1 890 c.891C>A c.(889-891)ttC>ttA p.F297L NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) TGGGGCTGAGGAAGGGGGTAA 0.398000 29 141 1.04121e-07 1.15378e-07 1 1 0 PRKCSH 5589 broad.mit.edu 37 19 11559781 11559781 + Missense_Mutation SNP G G T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr19:11559781G>T ENST00000252455.2 + 15 1654 c.1318G>T c.(1318-1320)Ggg>Tgg p.G440W PRKCSH_ENST00000587327.1_Missense_Mutation_p.G437W|PRKCSH_ENST00000592741.1_Missense_Mutation_p.G447W|PRKCSH_ENST00000589838.1_Missense_Mutation_p.G440W|PRKCSH_ENST00000412601.1_Missense_Mutation_p.G437W|PRKCSH_ENST00000591462.1_Missense_Mutation_p.G437W NM_002743.2 NP_002734.2 P14314 GLU2B_HUMAN protein kinase C substrate 80K-H 440 PRKCSH. innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen calcium ion binding|protein kinase C binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3) 19 ACCCAAACTCGGGGGCTCTCC 0.647000 17 89 4.35082e-09 5.04859e-09 1 1 0 NBPF10 100132406 broad.mit.edu 37 1 145302760 145302760 + Missense_Mutation SNP G G T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr1:145302760G>T ENST00000342960.5 + 8 1233 c.1198G>T c.(1198-1200)Gcc>Tcc p.A400S NBPF10_ENST00000369338.1_Missense_Mutation_p.A129S|NBPF10_ENST00000369339.2_Missense_Mutation_p.A129S|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 400 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GCATCTCCAGGCCCTCCTCAC 0.562000 11 290 9.16793e-09 1.05388e-08 1 1 0 ARHGAP19-SLIT1 100533184 broad.mit.edu 37 10 98989585 98989585 + Missense_Mutation SNP T T A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr10:98989585T>A ENST00000453547.2 - 10 1330 c.1331A>T c.(1330-1332)aAc>aTc p.N444I ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.N435I|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.N415I|ARHGAP19_ENST00000358531.4_Missense_Mutation_p.N444I|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.N444I|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.N435I TGGAGTAGGGTTCTTCTTTTT 0.398000 19 94 0 0 1 0 0 TFRC 7037 broad.mit.edu 37 3 195779045 195779045 + Missense_Mutation SNP T T A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr3:195779045T>A ENST00000360110.4 - 19 2220 c.2051A>T c.(2050-2052)cAc>cTc p.H684L TFRC_ENST00000392396.3_Missense_Mutation_p.H684L|TFRC_ENST00000420415.1_Missense_Mutation_p.H603L|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.H402L NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 684 Ligand-binding. cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) AGAGAGGAAGTGATACTCCAC 0.443000 T BCL6 NHL 5 35 0 0 1 0 0 KLKB1 3818 broad.mit.edu 37 4 187158067 187158067 + Missense_Mutation SNP C C T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr4:187158067C>T ENST00000264690.6 + 5 648 c.461C>T c.(460-462)aCg>aTg p.T154M KLKB1_ENST00000513864.1_Missense_Mutation_p.T154M NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 154 Apple 2. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) TCATATGCCACGCAAACATTT 0.408000 9 44 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113267555 113267555 + Missense_Mutation SNP T T C TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr8:113267555T>C ENST00000297405.5 - 62 10208 c.9964A>G c.(9964-9966)Ata>Gta p.I3322V CSMD3_ENST00000343508.3_Missense_Mutation_p.I3282V|CSMD3_ENST00000352409.3_Missense_Mutation_p.I3252V|CSMD3_ENST00000455883.2_Missense_Mutation_p.I3153V NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3322 Sushi 26. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CCCACTAATATGAAAGGAAAA 0.403000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 18 47 0 0 1 0 0 OR2H1 26716 broad.mit.edu 37 6 29429828 29429828 + Silent SNP A A C TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr6:29429828A>C ENST00000377136.1 + 4 747 c.282A>C c.(280-282)ggA>ggC p.G94G OR2H1_ENST00000377133.1_Silent_p.G94G|OR2H1_ENST00000377132.1_Silent_p.G94G|OR2H1_ENST00000442615.1_Silent_p.G94G|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000396792.2_Silent_p.G94G Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, member 1 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 GCTTCCTGGGATGCTCTGTCC 0.567000 27 67 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8615202 8615202 + Missense_Mutation SNP C C T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr19:8615202C>T ENST00000338257.8 - 10 1210 c.943G>A c.(943-945)Ggg>Agg p.G315R NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 315 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 TGCAGTCGCCCGCTGTCAATG 0.617000 5 19 0 0 1 0 0 CCNI 10983 broad.mit.edu 37 4 77976512 77976512 + Missense_Mutation SNP T T C TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr4:77976512T>C ENST00000237654.4 - 6 1057 c.481A>G c.(481-483)Act>Gct p.T161A CCNI_ENST00000537948.1_Missense_Mutation_p.T147A NM_006835.2 NP_006826.1 Q14094 CCNI_HUMAN cyclin I 161 spermatogenesis NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 9 TGAGGCCTAGTTGACACTGCA 0.378000 8 31 0 0 1 0 0 UEVLD 55293 broad.mit.edu 37 11 18568599 18568599 + Splice_Site SNP T T C TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr11:18568599T>C ENST00000396197.3 - 8 744 c.e8-2 UEVLD_ENST00000543987.1_Splice_Site|UEVLD_ENST00000320750.6_Splice_Site|UEVLD_ENST00000379387.4_Splice_Site|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000535484.1_Splice_Site|UEVLD_ENST00000540666.1_Splice_Site NM_001040697.2|NM_001261384.1 NP_001035787.1|NP_001248313.1 Q8IX04 UEVLD_HUMAN UEV and lactate/malate dehyrogenase domains cellular carbohydrate metabolic process|protein modification process|protein transport binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 CAGACAAATCTAGTGAATGAA 0.393000 10 44 0 0 1 0 0 OSBP2 23762 broad.mit.edu 37 22 31266432 31266432 + Silent SNP C C T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr22:31266432C>T ENST00000332585.6 + 3 974 c.870C>T c.(868-870)gaC>gaT p.D290D OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000382310.3_Silent_p.D290D|OSBP2_ENST00000446658.2_Silent_p.D290D|OSBP2_ENST00000407373.1_Silent_p.D117D|OSBP2_ENST00000403222.3_Silent_p.D125D|OSBP2_ENST00000437268.2_Silent_p.D32D NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 290 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 CTGGGGACGACGACGAGGCTA 0.557000 5 46 0 0 1 0 0 GTF2F1 2962 broad.mit.edu 37 19 6380471 6380471 + Missense_Mutation SNP C C T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr19:6380471C>T ENST00000394456.5 - 13 1839 c.1375G>A c.(1375-1377)Gtg>Atg p.V459M GTF2F1_ENST00000429701.2_Missense_Mutation_p.V374M NM_002096.2 NP_002087.2 P35269 T2FA_HUMAN general transcription factor IIF, polypeptide 1, 74kDa 459 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4) 16 TAGCGGCGCACGGCATCCTCA 0.602000 16 112 0 0 1 0 0 PDE11A 50940 broad.mit.edu 37 2 178969162 178969162 + Missense_Mutation SNP A A C TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr2:178969162A>C ENST00000358450.4 - 2 127 c.29T>G c.(28-30)tTc>tGc p.F10C NM_001077197.1 NP_001070665.1 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 0 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) CACATTTCTGAATAAAGGTCT 0.408000 Primary Pigmented Nodular Adrenocortical Disease, Familial 28 91 0 0 1 0 0 AMIGO2 347902 broad.mit.edu 37 12 47472393 47472393 + Silent SNP C C T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr12:47472393C>T ENST00000266581.4 - 2 859 c.393G>A c.(391-393)acG>acA p.T131T AMIGO2_ENST00000550413.1_Silent_p.T131T|AMIGO2_ENST00000429635.1_Silent_p.T131T|AMIGO2_ENST00000321382.3_Silent_p.T131T NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 131 heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) CATTTTTCACCGTCTTCAGCT 0.418000 25 100 0 0 1 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120317782 120317782 + Missense_Mutation SNP T T C TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr11:120317782T>C ENST00000397843.2 + 18 1743 c.1577T>C c.(1576-1578)aTt>aCt p.I526T ARHGEF12_ENST00000532993.1_Missense_Mutation_p.I423T|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.I507T NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 526 RGSL. apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) GTTGCCAAAATTGAAGAAGTA 0.418000 T MLL AML 25 101 0 0 1 0 0 OPRK1 4986 broad.mit.edu 37 8 54142056 54142056 + Missense_Mutation SNP C C A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr8:54142056C>A ENST00000265572.3 - 4 1241 c.944G>T c.(943-945)tGc>tTc p.C315F OPRK1_ENST00000524278.1_Missense_Mutation_p.C226F|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Missense_Mutation_p.C315F NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 315 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) TAAGGCGATGCAGAAGTAATA 0.517000 11 45 3.07112e-06 3.31357e-06 1 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 4 19 0 0 1 0 0 CRABP2 1382 broad.mit.edu 37 1 156670419 156670419 + Missense_Mutation SNP A A G TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr1:156670419A>G ENST00000368222.3 - 3 435 c.281T>C c.(280-282)aTg>aCg p.M94T CRABP2_ENST00000368221.1_Missense_Mutation_p.M94T NM_001199723.1|NM_001878.3 NP_001186652.1|NP_001869.1 P29373 RABP2_HUMAN cellular retinoic acid binding protein 2 94 epidermis development|regulation of transcription, DNA-dependent|signal transduction cytoplasm|nucleus retinal binding|retinol binding|transporter activity endometrium(2)|lung(3)|upper_aerodigestive_tract(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Alitretinoin(DB00523) CTCACAGACCATTTTATTCTC 0.562000 24 29 0 0 1 0 0 SLC4A2 6522 broad.mit.edu 37 7 150761737 150761737 + Silent SNP G G T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr7:150761737G>T ENST00000485713.1 + 4 1382 c.342G>T c.(340-342)ccG>ccT p.P114P SLC4A2_ENST00000310317.5_Silent_p.P32P|SLC4A2_ENST00000413384.2_Silent_p.P114P|SLC4A2_ENST00000461735.1_Silent_p.P100P|SLC4A2_ENST00000392826.2_Silent_p.P105P NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 114 Pro-rich. bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAGCCTCCCCGACTGGAGAAA 0.687000 7 27 8.12818e-05 8.69362e-05 1 1 0 DHX16 8449 broad.mit.edu 37 6 30622613 30622613 + Missense_Mutation SNP C C T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr6:30622613C>T ENST00000376442.3 - 19 3062 c.2867G>A c.(2866-2868)cGg>cAg p.R956Q DHX16_ENST00000376437.5_Missense_Mutation_p.R475Q NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 956 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 GTAGCCACTCCGAGTCAACCG 0.527000 6 36 0 0 1 0 0 OPA3 80207 broad.mit.edu 37 19 46056875 46056875 + Missense_Mutation SNP T T A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr19:46056875T>A ENST00000263275.4 - 2 491 c.437A>T c.(436-438)cAg>cTg p.Q146L OPA3_ENST00000544371.1_Missense_Mutation_p.Q93L|OPA3_ENST00000323060.3_Intron NM_025136.3 NP_079412.1 Q9H6K4 OPA3_HUMAN optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 146 response to stimulus|visual perception mitochondrion cervix(1)|large_intestine(1)|lung(2) 4 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242) CAGGGCGCCCTGTGGCGGCGC 0.716000 14 33 0 0 1 0 0 LOC647323 647323 broad.mit.edu 37 3 193711759 193711759 + RNA SNP G G A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr3:193711759G>A ENST00000397645.2 - 0 75 RP11-699L21.2_ENST00000426616.1_lincRNA NR_033944.1 TGGTCGGCAAGGGAAGGGCTG 0.438000 7 28 0 0 1 0 0 IPO13 9670 broad.mit.edu 37 1 44433011 44433011 + Missense_Mutation SNP A A G TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr1:44433011A>G ENST00000372343.3 + 19 3300 c.2638A>G c.(2638-2640)Agc>Ggc p.S880G IPO13_ENST00000372339.3_Missense_Mutation_p.S98G NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 880 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) GGCCTCCCGCAGCCTCATGGA 0.612000 28 79 0 0 1 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342186 60342186 + RNA SNP T T C rs79096325 TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr17:60342186T>C ENST00000581291.1 - 0 1967 breast(2)|kidney(1)|lung(2) 5 GCTGGGGGTGTTGGGAGGGGC 0.498000 3 31 0 0 1 0 0 WDR90 197335 broad.mit.edu 37 16 705095 705095 + Missense_Mutation SNP C C T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr16:705095C>T ENST00000549091.1 + 14 1596 c.1504C>T c.(1504-1506)Cac>Tac p.H502Y WDR90_ENST00000293879.4_Missense_Mutation_p.H502Y|LA16c-349E10.1_ENST00000573609.1_RNA NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 502 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) GGCAAAGGCGCACACTGACTT 0.647000 4 54 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88761450 88761450 + RNA SNP G G T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr10:88761450G>T ENST00000444431.1 + 0 2580 RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding ATTCCTTGATGGCAGCACAGC 0.388000 22 106 6.44725e-10 7.69915e-10 1 1 0 ZNF548 147694 broad.mit.edu 37 19 57911095 57911095 + Silent SNP C C T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr19:57911095C>T ENST00000366197.5 + 3 1690 c.1440C>T c.(1438-1440)agC>agT p.S480S AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000336128.7_Silent_p.S492S|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron NM_152909.3 NP_690873.2 Q8NEK5 ZN548_HUMAN zinc finger protein 548 480 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATGAGTGCAGCGAATGCCAGA 0.468000 18 61 0 0 1 0 0 STC2 8614 broad.mit.edu 37 5 172752928 172752928 + Silent SNP C C A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr5:172752928C>A ENST00000265087.4 - 2 1546 c.237G>T c.(235-237)cgG>cgT p.R79R NM_003714.2 NP_003705.1 O76061 STC2_HUMAN stanniocalcin 2 79 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3) 25 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CATGTAAGCCCCGAATCTCAC 0.463000 67 270 4.17052e-40 5.39972e-40 1 1 0 RGPD4 285190 broad.mit.edu 37 2 108475958 108475958 + Missense_Mutation SNP A A G rs142985549 by1000genomes TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr2:108475958A>G ENST00000408999.3 + 11 1659 c.1582A>G c.(1582-1584)Aga>Gga p.R528G RGPD4_ENST00000354986.4_Missense_Mutation_p.R528G NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 528 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TTGTACAGAAAGACAAAAATC 0.393000 11 276 0 0 1 0 0 RPE65 6121 broad.mit.edu 37 1 68903985 68903985 + Missense_Mutation SNP T T C TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr1:68903985T>C ENST00000262340.5 - 10 1066 c.1013A>G c.(1012-1014)tAt>tGt p.Y338C NM_000329.2 NP_000320.1 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 65kDa 338 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 TAAGTAATTATAAACAAACTC 0.353000 13 42 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 6 115 0 0 1 0 0 CCDC74A 90557 broad.mit.edu 37 2 132288372 132288372 + Silent SNP C C T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr2:132288372C>T ENST00000467992.2 + 1 1136 c.822C>T c.(820-822)ttC>ttT p.F274F CCDC74A_ENST00000295171.6_Silent_p.F172F|CCDC74A_ENST00000409856.3_Silent_p.F106F Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 172 endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 TGTCAAGCTTCCAGTCTGTCA 0.637000 4 20 0 0 1 0 0 SCAMP2 10066 broad.mit.edu 37 15 75143767 75143767 + Silent SNP G G A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr15:75143767G>A ENST00000268099.9 - 5 508 c.399C>T c.(397-399)ttC>ttT p.F133F NM_005697.3 NP_005688.2 O15127 SCAM2_HUMAN secretory carrier membrane protein 2 133 post-Golgi vesicle-mediated transport|protein transport integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 9 AATCCTGATAGAAGCAGGGCT 0.562000 13 61 0 0 1 0 0 NAB2 4665 broad.mit.edu 37 12 57485446 57485446 + Missense_Mutation SNP T T C TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr12:57485446T>C ENST00000300131.3 + 2 1000 c.622T>C c.(622-624)Ttc>Ctc p.F208L NAB2_ENST00000342556.6_Missense_Mutation_p.F208L|NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000554718.1_3'UTR NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 208 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.F208L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 CTCGCCCCCCTTCTCCCCCCC 0.716000 10 33 0 0 1 0 0 FOXI1 2299 broad.mit.edu 37 5 169533054 169533054 + Nonsense_Mutation SNP C C A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr5:169533054C>A ENST00000449804.2 + 1 138 c.93C>A c.(91-93)taC>taA p.Y31* FOXI1_ENST00000306268.6_Nonsense_Mutation_p.Y31* NM_012188.4|NM_144769.2 NP_036320.2|NP_658982.1 Q12951 FOXI1_HUMAN forkhead box I1 31 Pro-rich. epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGAACCTCTACTATGAGAACT 0.687000 Pendred syndrome 4 37 0.150653 0.150653 1 1 0 CYP20A1 57404 broad.mit.edu 37 2 204150408 204150408 + Missense_Mutation SNP A A T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr2:204150408A>T ENST00000356079.4 + 9 1047 c.924A>T c.(922-924)caA>caT p.Q308H CYP20A1_ENST00000429815.2_Missense_Mutation_p.Q316H|CYP20A1_ENST00000461371.1_3'UTR NM_177538.2 NP_803882.1 Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, polypeptide 1 308 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 11 AGATAAACCAAGTTTTTGGAA 0.323000 15 56 0 0 1 0 0 SUSD5 26032 broad.mit.edu 37 3 33249307 33249307 + Silent SNP C C T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr3:33249307C>T ENST00000309558.3 - 3 819 c.402G>A c.(400-402)aaG>aaA p.K134K NM_015551.1 NP_056366.1 O60279 SUSD5_HUMAN sushi domain containing 5 134 Link. cell adhesion integral to membrane hyaluronic acid binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 GACCTTCATCCTTAATACAAA 0.463000 14 34 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56703286 56703286 + Missense_Mutation SNP G G A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr19:56703286G>A ENST00000586855.2 - 3 834 c.521C>T c.(520-522)cCg>cTg p.P174L ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.P174L A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 174 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 GCCTGTCCCCGGATGCATCTG 0.632000 8 29 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121489489 121489489 + Missense_Mutation SNP G G T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr11:121489489G>T ENST00000260197.7 + 42 5740 c.5611G>T c.(5611-5613)Ggt>Tgt p.G1871C SORL1_ENST00000527934.1_Missense_Mutation_p.G486C|SORL1_ENST00000525532.1_Missense_Mutation_p.G815C|SORL1_ENST00000532694.1_Missense_Mutation_p.G717C|SORL1_ENST00000534286.1_Missense_Mutation_p.G781C NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1871 Fibronectin type-III 4. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CCAGGTTTATGGTATTTTCTA 0.453000 19 133 6.94344e-10 8.21196e-10 1 1 0 SLIT3 6586 broad.mit.edu 37 5 168093531 168093531 + Silent SNP C C T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr5:168093531C>T ENST00000519560.1 - 36 4919 c.4500G>A c.(4498-4500)caG>caA p.Q1500Q SLIT3_ENST00000332966.8_Silent_p.Q1507Q|CTC-558O2.2_ENST00000520041.1_RNA NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1500 CTCK. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CGTCCGTGCACTGGAAGACGT 0.642000 9 19 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31809318 31809318 + Missense_Mutation SNP A A T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr10:31809318A>T ENST00000446923.2 + 7 1398 c.1007A>T c.(1006-1008)gAt>gTt p.D336V ZEB1_ENST00000361642.5_Missense_Mutation_p.D353V|ZEB1_ENST00000320985.10_Missense_Mutation_p.D352V|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.D285V|ZEB1_ENST00000560721.2_Missense_Mutation_p.D332V NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 352 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) GAACCTGTGGATTATGAATTC 0.433000 15 44 0 0 1 0 0 BCL9L 283149 broad.mit.edu 37 11 118773437 118773437 + Missense_Mutation SNP C C A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr11:118773437C>A ENST00000334801.3 - 6 1979 c.1015G>T c.(1015-1017)Gtg>Ttg p.V339L BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 339 Necessary for interaction with CTNNB1 (By similarity).|Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GCAGCTCCCACCGAGTTGGGG 0.721000 4 11 2.56e-06 2.78655e-06 1 1 0 GRIN2A 2903 broad.mit.edu 37 16 9923320 9923320 + Missense_Mutation SNP T T A TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr16:9923320T>A ENST00000396573.2 - 10 2276 c.1967A>T c.(1966-1968)gAg>gTg p.E656V GRIN2A_ENST00000404927.2_Missense_Mutation_p.E656V|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E656V|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E499V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E656V|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E656V NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 656 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CACAAATTCCTCTTGGATCAT 0.498000 17 53 0 0 1 0 0 ZNF808 388558 broad.mit.edu 37 19 53058613 53058613 + Missense_Mutation SNP C C T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr19:53058613C>T ENST00000359798.4 + 5 2624 c.2444C>T c.(2443-2445)gCa>gTa p.A815V NM_001039886.3 NP_001034975.2 Q8N4W9 ZN808_HUMAN zinc finger protein 808 815 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) ATTCACACTGCAGAGAAACCT 0.378000 51 176 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139890122 139890122 + Missense_Mutation SNP C C T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr8:139890122C>T ENST00000303045.6 - 3 975 c.529G>A c.(529-531)Gtg>Atg p.V177M COL22A1_ENST00000435777.1_Missense_Mutation_p.V177M NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 177 VWFA. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GCCTCGCCCACGCCCACGGCA 0.677000 HNSCC(7;0.00092) 8 19 0 0 1 0 0 THRAP3 9967 broad.mit.edu 37 1 36762337 36762338 + Frame_Shift_Del DEL AC AC - TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr1:36762337_36762338delAC ENST00000354618.5 + 9 2493_2494 c.2269_2270delAC c.(2269-2271)afs p.T757fs THRAP3_ENST00000469141.2_Frame_Shift_Del_p.T757fs NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 757 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AGCTGAAAAAACAGAGAAAACT 0.426 T USP6 aneurysmal bone cysts 16 78 --- --- --- --- LOC101927533 101927533 broad.mit.edu 37 2 65738863 65738863 + RNA DEL G G - TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr2:65738863delG ENST00000377977.3 + 0 862 TTTTTTTTTTGTCCAGGAGGC 0.303 3 5 --- --- --- --- PMS2P4 5382 broad.mit.edu 37 7 66762432 66762432 + RNA DEL G G - rs60169909 TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr7:66762432delG ENST00000414507.1 - 0 184 gtctcaaaaagaaaaaaaaaa 0.408 4 9 --- --- --- --- RP11-718B12.2 0 broad.mit.edu 37 11 82517019 82517024 + RNA DEL ATGTGT ATGTGT - rs147875274 by1000genomes TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr11:82517019_82517024delATGTGT ENST00000526305.1 + 0 63 CCAAGAGATGATGTGTATTCTACTAA 0.447 21 60 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080210 7080211 + RNA INS - - G rs141646579 by1000genomes TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr12:7080210_7080211insG ENST00000546220.1 + 0 155_156 U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding CGGAGGCCGTAGTTTATTGTGG 0.569 5 10 --- --- --- --- DHX34 9704 broad.mit.edu 37 19 47856518 47856519 + Frame_Shift_Del DEL GA GA - TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr19:47856518_47856519delGA ENST00000328771.4 + 2 580_581 c.231_232delGA c.(229-234)agagfs p.RK77fs NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 77 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) AGACCTCCAGGAAGGAGGAGAA 0.535 23 109 --- --- --- --- KLK13 26085 broad.mit.edu 37 19 51563836 51563836 + Frame_Shift_Del DEL C C - TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr19:51563836delC ENST00000595793.1 - 2 135 c.93delG c.(91-93)ggfs p.G31fs KLK13_ENST00000596955.1_Frame_Shift_Del_p.G31fs|KLK13_ENST00000335422.3_Intron|KLK13_ENST00000595547.1_Frame_Shift_Del_p.G31fs NM_015596.1 NP_056411.1 Q9UKR3 KLK13_HUMAN kallikrein-related peptidase 13 31 proteolysis protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 16 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432) ACCCACTGGTCCCATTGGTGT 0.587 17 96 --- --- --- --- CD93 22918 broad.mit.edu 37 20 23066789 23066791 + In_Frame_Del DEL AGC AGC - TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr20:23066789_23066791delAGC ENST00000246006.4 - 1 186_188 c.39_41delGCT c.(37-42)ctc>ct p.LL13del NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 13 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) CTGGGTcaggagcagcagcagca 0.709 2 4 --- --- --- --- ANKRD20A11P 391267 broad.mit.edu 37 21 15347257 15347258 + RNA INS - - A rs80199214 TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cc36f5-d3cd-4a7c-8f1d-e41e10ed9015 5f2e9acb-855e-40ea-9552-7d9f1389e429 g.chr21:15347257_15347258insA ENST00000344693.5 - 0 736 NR_027270.1 ACCCTGCACAGAAAAAAAGTTG 0.307 4 7 --- --- --- ---