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 ZNF646 9726 broad.mit.edu 37 16 31090150 31090150 + Silent SNP C C T TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr16:31090150C>T ENST00000394979.2 + 1 2928 c.2505C>T c.(2503-2505)ggC>ggT p.G835G ZNF646_ENST00000300850.5_Silent_p.G835G O15015 ZN646_HUMAN zinc finger protein 646 835 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 ATGCCACTGGCCTGCTGAGCC 0.622000 52 160 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 4 25 0 0 1 0 0 CLDN6 9074 broad.mit.edu 37 16 3065626 3065626 + Silent SNP G G A TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr16:3065626G>A ENST00000396925.1 - 3 825 c.397C>T c.(397-399)Cta>Tta p.L133L CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Silent_p.L133L P56747 CLD6_HUMAN claudin 6 133 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 10 ACGGGGATTAGCGTCAGGACC 0.607000 10 72 0 0 1 0 0 SPATS2L 26010 broad.mit.edu 37 2 201284007 201284007 + Missense_Mutation SNP A A G TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr2:201284007A>G ENST00000409988.3 + 6 756 c.233A>G c.(232-234)cAt>cGt p.H78R SPATS2L_ENST00000409140.3_Missense_Mutation_p.H78R|SPATS2L_ENST00000409151.1_Missense_Mutation_p.H86R|SPATS2L_ENST00000451764.2_Missense_Mutation_p.H78R|SPATS2L_ENST00000360760.5_Missense_Mutation_p.H78R|SPATS2L_ENST00000409755.3_Missense_Mutation_p.H108R|SPATS2L_ENST00000409718.1_Missense_Mutation_p.H78R|SPATS2L_ENST00000409385.1_Missense_Mutation_p.H18R|SPATS2L_ENST00000358677.4_Missense_Mutation_p.H78R NM_001100422.1 NP_001093892.1 Q9NUQ6 SPS2L_HUMAN spermatogenesis associated, serine-rich 2-like 78 cytoplasm|nucleolus endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1) 10 TCCAAGCAGCATCAAGGCAAC 0.448000 7 18 0 0 1 0 0 ZCCHC4 29063 broad.mit.edu 37 4 25315728 25315728 + Missense_Mutation SNP C C T TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr4:25315728C>T ENST00000302874.4 + 2 212 c.188C>T c.(187-189)gCc>gTc p.A63V ZCCHC4_ENST00000505451.1_3'UTR NM_024936.2 NP_079212.2 Q9H5U6 ZCHC4_HUMAN zinc finger, CCHC domain containing 4 63 methyltransferase activity|nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1) 9 Breast(46;0.0503) AGGTTTTATGCCTGTTCAGCC 0.333000 5 343 0 0 1 0 0 XXYLT1 152002 broad.mit.edu 37 3 194790640 194790640 + Missense_Mutation SNP C C T TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr3:194790640C>T ENST00000310380.6 - 4 1094 c.986G>A c.(985-987)gGg>gAg p.G329E XXYLT1_ENST00000356740.5_Missense_Mutation_p.G123E|XXYLT1_ENST00000355729.4_Missense_Mutation_p.G126E|XXYLT1_ENST00000429994.1_Missense_Mutation_p.G183E|XXYLT1_ENST00000437101.1_Missense_Mutation_p.G126E|XXYLT1_ENST00000460582.1_5'UTR NM_152531.4 NP_689744.3 Q8NBI6 CC021_HUMAN xyloside xylosyltransferase 1 329 integral to membrane transferase activity, transferring glycosyl groups GTCCTGGTCCCCGAGGTGGCC 0.652000 31 91 0 0 1 0 0 RABEP1 9135 broad.mit.edu 37 17 5264854 5264854 + Missense_Mutation SNP C C A TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr17:5264854C>A ENST00000262477.6 + 9 1671 c.1447C>A c.(1447-1449)Caa>Aaa p.Q483K RABEP1_ENST00000546142.2_Missense_Mutation_p.Q483K|NUP88_ENST00000573169.1_5'UTR|RABEP1_ENST00000537505.1_Missense_Mutation_p.Q440K|RABEP1_ENST00000408982.2_Missense_Mutation_p.Q483K|RABEP1_ENST00000341923.6_Missense_Mutation_p.Q483K NM_004703.4 NP_004694.2 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 483 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 GACACCAGAACAAGAAGAGAC 0.478000 41 75 1.57019e-19 1.65284e-19 1 1 0 LRRC7 57554 broad.mit.edu 37 1 70493911 70493911 + Missense_Mutation SNP G G C TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr1:70493911G>C ENST00000310961.5 + 19 2171 c.1753G>C c.(1753-1755)Gta>Cta p.V585L LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.V580L Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 580 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 AAAGAATATGGTAAAATCTGT 0.338000 53 153 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) 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) ggaaggggaaaaaaagaaggg 0.413000 4 250 0 0 1 0 0 B3GNTL1 146712 broad.mit.edu 37 17 80923550 80923550 + Missense_Mutation SNP C C G rs142904836 TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr17:80923550C>G ENST00000576599.1 - 7 994 c.244G>C c.(244-246)Ggc>Cgc p.G82R B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000320865.3_Missense_Mutation_p.G193R Q67FW5 B3GNL_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 193 transferase activity, transferring glycosyl groups endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) all_cancers(8;0.0396)|all_epithelial(8;0.0556) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) TTAAAGGGGCCCACGTGGGAG 0.592000 12 17 0 0 1 0 0 OR1M1 125963 broad.mit.edu 37 19 9204100 9204100 + Nonsense_Mutation SNP C C A TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr19:9204100C>A ENST00000429566.3 + 1 246 c.180C>A c.(178-180)taC>taA p.Y60* NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CCCCCATGTACTTCTTCCTGG 0.542000 5 179 0.014758 0.0149448 1 1 0 CHST15 51363 broad.mit.edu 37 10 125805699 125805699 + Silent SNP C C T TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr10:125805699C>T ENST00000346248.5 - 2 672 c.30G>A c.(28-30)caG>caA p.Q10Q CHST15_ENST00000435907.1_Silent_p.Q10Q|CHST15_ENST00000462406.1_5'UTR|CHST15_ENST00000421115.1_Silent_p.Q10Q NM_001270764.1|NM_015892.3 NP_001257693.1|NP_056976.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 10 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 CGGGTAACAGCTGTATGCAGC 0.607000 8 124 0 0 1 0 0 IGSF11 152404 broad.mit.edu 37 3 118621746 118621746 + Missense_Mutation SNP G G A rs117543039 by1000genomes TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr3:118621746G>A ENST00000354673.2 - 9 1294 c.914C>T c.(913-915)tCg>tTg p.S305L IGSF11_ENST00000489689.1_Missense_Mutation_p.S282L|IGSF11_ENST00000425327.2_Missense_Mutation_p.S305L|IGSF11_ENST00000441144.2_Missense_Mutation_p.S281L|IGSF11_ENST00000393775.2_Missense_Mutation_p.S306L|IGSF11_ENST00000491903.1_Missense_Mutation_p.S278L NM_152538.2 NP_689751.2 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 306 cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GTTGTTGTCCGAGGAGGAAAT 0.423000 5 217 0 0 1 0 0 USP54 159195 broad.mit.edu 37 10 75331188 75331188 + Silent SNP G G A TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr10:75331188G>A ENST00000339859.4 - 3 331 c.231C>T c.(229-231)tgC>tgT p.C77C USP54_ENST00000408019.1_Silent_p.C77C|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Silent_p.C77C|USP54_ENST00000428547.1_Silent_p.C77C Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 77 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) CCTTGAGAGCGCAAAAGATGC 0.433000 4 147 0 0 1 0 0 C9orf156 51531 broad.mit.edu 37 9 100667129 100667129 + Silent SNP C C T TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr9:100667129C>T ENST00000375119.3 - 5 1288 c.1212G>A c.(1210-1212)gcG>gcA p.A404A NM_016481.3 NP_057565.3 Q9BU70 NAP1_HUMAN chromosome 9 open reading frame 156 404 interspecies interaction between organisms hydrolase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1) 13 Acute lymphoblastic leukemia(62;0.158) AAGTGACATGCGCTATGTCTA 0.552000 4 164 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48735563 48735563 + Missense_Mutation SNP G G A TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr17:48735563G>A ENST00000285238.8 + 5 687 c.607G>A c.(607-609)Gac>Aac p.D203N ABCC3_ENST00000427699.1_Missense_Mutation_p.D203N NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 203 bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) AAAGAATGTCGACCCTGTGAG 0.567000 5 226 0 0 1 0 0 GNPTAB 79158 broad.mit.edu 37 12 102158081 102158081 + Missense_Mutation SNP C C T TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr12:102158081C>T ENST00000299314.7 - 13 2876 c.2614G>A c.(2614-2616)Gtt>Att p.V872I NM_024312.4 NP_077288.2 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 872 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 37 ACTTCAGTAACGCCTATGTGA 0.383000 33 688 0 0 1 0 0 RAB10 10890 broad.mit.edu 37 2 26257554 26257554 + Missense_Mutation SNP T T C TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr2:26257554T>C ENST00000264710.4 + 1 576 c.77T>C c.(76-78)cTt>cCt p.L26P NM_016131.4 NP_057215.3 P61026 RAB10_HUMAN RAB10, member RAS oncogene family 26 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|protein binding lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCTGCGTCCTTTTTCGTTTT 0.537000 5 354 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29684022 29684022 + Nonsense_Mutation SNP A A T TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr17:29684022A>T ENST00000358273.4 + 53 8166 c.7783A>T c.(7783-7785)Aaa>Taa p.K2595* NF1_ENST00000444181.2_Nonsense_Mutation_p.K388*|NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.K2574* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2595 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3)|p.K2595E(2)|p.K2595fs*5(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ACATTTACGTAAAGTTTCAGT 0.418000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 92 350 0 0 1 0 0 MPP7 143098 broad.mit.edu 37 10 28378749 28378749 + Missense_Mutation SNP C C T rs145943944 byFrequency TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr10:28378749C>T ENST00000337532.5 - 13 1250 c.974G>A c.(973-975)cGt>cAt p.R325H MPP7_ENST00000375732.1_Missense_Mutation_p.R325H|MPP7_ENST00000540098.1_Missense_Mutation_p.R325H|MPP7_ENST00000375719.3_Missense_Mutation_p.R325H|MPP7_ENST00000445954.2_Missense_Mutation_p.R200H NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 325 establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 TCTACTAAGACGAAAACTTTT 0.313000 15 119 0 0 1 0 0 RAB36 9609 broad.mit.edu 37 22 23487582 23487582 + Silent SNP T T A TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr22:23487582T>A ENST00000263116.2 + 1 70 c.30T>A c.(28-30)ctT>ctA p.L10L RAB36_ENST00000341989.4_Silent_p.L10L NM_004914.2 NP_004905.2 O95755 RAB36_HUMAN RAB36, member RAS oncogene family 10 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.155) GCTGGATGCTTGGACGCGCCG 0.667000 9 162 0 0 1 0 0 RCBTB2 1102 broad.mit.edu 37 13 49075985 49075985 + Silent SNP T T C TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr13:49075985T>C ENST00000344532.3 - 12 1560 c.1137A>G c.(1135-1137)acA>acG p.T379T RCBTB2_ENST00000430805.2_Silent_p.T384T|RCBTB2_ENST00000544492.1_Silent_p.T105T NM_001268.2 NP_001259.1 O95199 RCBT2_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 379 Ran guanyl-nucleotide exchange factor activity breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) ACTCAGCCACTGTGAGGTGGT 0.438000 11 58 0 0 1 0 0 AHDC1 27245 broad.mit.edu 37 1 27877444 27877444 + Missense_Mutation SNP G G A TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr1:27877444G>A ENST00000374011.2 - 6 2151 c.1183C>T c.(1183-1185)Cgc>Tgc p.R395C AHDC1_ENST00000482400.2_5'UTR|AHDC1_ENST00000247087.5_Missense_Mutation_p.R395C NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 395 Pro-rich. DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) TTCCGCCGGCGACACAGGATC 0.716000 5 35 0 0 1 0 0 SLC30A3 7781 broad.mit.edu 37 2 27479686 27479686 + Missense_Mutation SNP G G A TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr2:27479686G>A ENST00000233535.4 - 6 1205 c.853C>T c.(853-855)Ctc>Ttc p.L285F SLC30A3_ENST00000447008.2_Missense_Mutation_p.L280F NM_003459.4 NP_003450.2 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), member 3 285 regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACGTCTCGGAGGGTGGGAGCG 0.587000 14 78 0 0 1 0 0 TOM1L1 10040 broad.mit.edu 37 17 52993145 52993145 + Missense_Mutation SNP G G A TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr17:52993145G>A ENST00000575882.1 + 7 995 c.642G>A c.(640-642)atG>atA p.M214I TOM1L1_ENST00000572158.1_Missense_Mutation_p.M207I|TOM1L1_ENST00000575333.1_Missense_Mutation_p.M214I|TOM1L1_ENST00000572405.1_Missense_Mutation_p.M179I|TOM1L1_ENST00000445275.2_Missense_Mutation_p.M214I|TOM1L1_ENST00000540336.1_Missense_Mutation_p.M102I|TOM1L1_ENST00000570371.1_Missense_Mutation_p.M214I|TOM1L1_ENST00000348161.4_Missense_Mutation_p.M137I|TOM1L1_ENST00000536554.1_Missense_Mutation_p.M137I NM_005486.2 NP_005477.2 O75674 TM1L1_HUMAN target of myb1 (chicken)-like 1 214 GAT. intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway cytosol|endosome membrane|Golgi stack|lysosome SH3 domain binding|ubiquitin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 15 TGGTGAAAATGAATGTGCGAG 0.433000 134 194 0 0 1 0 0 WASF2 10163 broad.mit.edu 37 1 27736491 27736491 + Missense_Mutation SNP C C T TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr1:27736491C>T ENST00000430629.2 - 8 1249 c.1034G>A c.(1033-1035)gGg>gAg p.G345E WASF2_ENST00000536657.1_Intron NM_001201404.1|NM_006990.3 NP_001188333.1|NP_008921.1 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 345 actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) TGGAGGCGTCCCTGGAGACCC 0.627000 22 150 0 0 1 0 0 ZNF728 388523 broad.mit.edu 37 19 23159377 23159377 + Missense_Mutation SNP T T A TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr19:23159377T>A ENST00000594710.1 - 4 907 c.762A>T c.(760-762)aaA>aaT p.K254N NM_001267716.1 NP_001254645.1 zinc finger protein 728 ATTTGTAATGTTTCTCTCCAG 0.403000 4 83 0 0 1 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217542 150217542 + Silent SNP C C T TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr7:150217542C>T ENST00000313543.4 + 2 637 c.480C>T c.(478-480)tgC>tgT p.C160C NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 160 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCAAGGAGTGCGGGAACCGCT 0.502000 4 95 0 0 1 0 0 SEC61A1 29927 broad.mit.edu 37 3 127783859 127783859 + Silent SNP T T C TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr3:127783859T>C ENST00000243253.3 + 8 940 c.756T>C c.(754-756)ttT>ttC p.F252F SEC61A1_ENST00000483956.1_Intron|SEC61A1_ENST00000464451.1_Silent_p.F258F|RUVBL1_ENST00000464873.1_3'UTR|SEC61A1_ENST00000424880.2_Silent_p.F132F NM_013336.3 NP_037468.1 P61619 S61A1_HUMAN Sec61 alpha 1 subunit (S. cerevisiae) 252 protein targeting to ER integral to endoplasmic reticulum membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4) 21 TCTTTGTCTTTGCAGTGGTCA 0.532000 88 228 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219895995 219895995 + Missense_Mutation SNP G G A TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr2:219895995G>A ENST00000341552.5 - 8 931 c.848C>T c.(847-849)tCc>tTc p.S283F CCDC108_ENST00000409865.3_Missense_Mutation_p.S272F|CCDC108_ENST00000453220.1_Missense_Mutation_p.S283F|CCDC108_ENST00000410037.1_Missense_Mutation_p.S218F|CCDC108_ENST00000441968.1_Missense_Mutation_p.S283F NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 283 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAATGGGCTGGAGAACTCCCA 0.652000 4 36 0 0 1 0 0 SLC30A5 64924 broad.mit.edu 37 5 68412039 68412039 + Missense_Mutation SNP T T C TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr5:68412039T>C ENST00000396591.3 + 9 1680 c.1070T>C c.(1069-1071)tTg>tCg p.L357S CTC-498J12.3_ENST00000504129.1_RNA NM_022902.4 NP_075053.2 Q8TAD4 ZNT5_HUMAN solute carrier family 30 (zinc transporter), member 5 357 cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane zinc ion binding|zinc ion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) TTCTTCATTTTGTGTAAGCAT 0.393000 20 60 0 0 1 0 0 ESPN 83715 broad.mit.edu 37 1 6504600 6504600 + Silent SNP G G A TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr1:6504600G>A ENST00000377828.1 + 6 1218 c.1050G>A c.(1048-1050)ccG>ccA p.P350P RP1-202O8.2_ENST00000419034.1_RNA NM_031475.2 NP_113663.2 B1AK53 ESPN_HUMAN espin 350 sensory perception of sound brush border|cytoplasm|filamentous actin|stereocilium actin filament binding|SH3 domain binding NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392) Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419) CTAAGCAGCCGGATTCAGGCA 0.612000 21 79 0 0 1 0 0 WIPI1 55062 broad.mit.edu 37 17 66449057 66449057 + Missense_Mutation SNP C C T TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr17:66449057C>T ENST00000262139.5 - 2 156 c.157G>A c.(157-159)Gga>Aga p.G53R WIPI1_ENST00000589459.1_Intron|WIPI1_ENST00000546360.1_Intron NM_017983.5 NP_060453.3 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 1 53 macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 18 TTACTGCTTCCGTGGACTTGA 0.498000 6 149 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73565576 73565576 + Missense_Mutation SNP G G A TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr10:73565576G>A ENST00000224721.6 + 55 7906 c.7901G>A c.(7900-7902)cGc>cAc p.R2634H CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.R389H NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2629 Cadherin 25. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 ATCCCGCTGCGCTCCAACGTG 0.627000 10 30 0 0 1 0 0 PTPN1 5770 broad.mit.edu 37 20 49197836 49197836 + Missense_Mutation SNP G G T rs138343840 byFrequency TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr20:49197836G>T ENST00000371621.3 + 9 1297 c.1123G>T c.(1123-1125)Gtg>Ttg p.V375L PTPN1_ENST00000541713.1_Missense_Mutation_p.V302L NM_001278618.1|NM_002827.2 NP_001265547.1|NP_002818.1 P18031 PTN1_HUMAN protein tyrosine phosphatase, non-receptor type 1 375 blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol|endoplasmic reticulum membrane protein tyrosine phosphatase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2) 16 Lung NSC(126;0.163) Clodronate(DB00720)|Tiludronate(DB01133) AAGTCGGGTCGTGGGGGGAAG 0.557000 22 50 3.6726e-16 3.81569e-16 1 1 0 SCYL3 57147 broad.mit.edu 37 1 169828224 169828224 + Missense_Mutation SNP T T G TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr1:169828224T>G ENST00000367772.4 - 11 1467 c.1270A>C c.(1270-1272)Act>Cct p.T424P SCYL3_ENST00000367770.1_Missense_Mutation_p.T424P|SCYL3_ENST00000367771.5_Missense_Mutation_p.T424P NM_181093.3 NP_851607.2 Q8IZE3 PACE1_HUMAN SCY1-like 3 (S. cerevisiae) 424 cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTTGGGGCAGTGCGTTTGAAG 0.393000 86 156 0 0 1 0 0 PER1 5187 broad.mit.edu 37 17 8047182 8047182 + Missense_Mutation SNP C C A TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr17:8047182C>A ENST00000317276.4 - 19 2711 c.2474G>T c.(2473-2475)gGc>gTc p.G825V PER1_ENST00000581082.1_Missense_Mutation_p.G802V|PER1_ENST00000578089.1_5'UTR NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 825 circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GGGTGCGGGGCCGTGGTGGCA 0.647000 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 30 95 1.57351e-24 1.67842e-24 1 1 0 KERA 11081 broad.mit.edu 37 12 91449700 91449700 + Missense_Mutation SNP A A G rs145871038 TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr12:91449700A>G ENST00000266719.3 - 2 606 c.359T>C c.(358-360)cTg>cCg p.L120P NM_007035.3 NP_008966.1 O60938 KERA_HUMAN keratocan 120 response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 CAACTTCTTCAGCTGGCTTAG 0.383000 69 266 0 0 1 0 0 SIAH1 6477 broad.mit.edu 37 16 48395776 48395776 + Missense_Mutation SNP G G C TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr16:48395776G>C ENST00000380006.2 - 1 2017 c.564C>G c.(562-564)caC>caG p.H188Q SIAH1_ENST00000356721.3_Missense_Mutation_p.H219Q|SIAH1_ENST00000394725.2_Missense_Mutation_p.H188Q Q8IUQ4 SIAH1_HUMAN siah E3 ubiquitin protein ligase 1 188 SBD. axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis beta-catenin destruction complex|cytosol|nucleus protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1) 7 all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238) CTAACATGAAGTGAAAGCCAA 0.423000 19 198 0 0 1 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21453315 21453315 + Missense_Mutation SNP C C G TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr12:21453315C>G ENST00000307378.6 - 9 1597 c.877G>C c.(877-879)Gag>Cag p.E293Q SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E293Q|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.E291Q|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.E161Q|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.E161Q NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 293 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 TTCTTGACCTCTTCTTTTTGT 0.299000 4 60 0 0 1 0 0 NME8 51314 broad.mit.edu 37 7 37907473 37907473 + Missense_Mutation SNP C C G TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr7:37907473C>G ENST00000199447.4 + 11 1163 c.791C>G c.(790-792)cCt>cGt p.P264R EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.P264R NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 264 cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity CAGGTTACACCTGGAATGATG 0.458000 20 71 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53279712 53279712 + Missense_Mutation SNP A A G TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr16:53279712A>G ENST00000566029.1 + 15 3613 c.3404A>G c.(3403-3405)aAt>aGt p.N1135S CHD9_ENST00000398510.3_Missense_Mutation_p.N1135S|CHD9_ENST00000564845.1_Missense_Mutation_p.N1135S|CHD9_ENST00000447540.1_Missense_Mutation_p.N1135S Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 1135 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) AACTTGGTCAATACCATGATG 0.313000 17 91 0 0 1 0 0 IGHV1-46 0 broad.mit.edu 37 14 106967443 106967443 + RNA SNP A A C TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr14:106967443A>C ENST00000390622.2 - 0 345 CTTTACCTGGAGCTACAGCCA 0.522000 9 131 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 78 0 0 1 0 0 RHBDF1 64285 broad.mit.edu 37 16 113631 113631 + Missense_Mutation SNP G G A TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr16:113631G>A ENST00000262316.6 - 4 558 c.416C>T c.(415-417)aCg>aTg p.T139M RHBDF1_ENST00000454039.2_Missense_Mutation_p.T139M NM_022450.3 NP_071895.3 Q96CC6 RHDF1_HUMAN rhomboid 5 homolog 1 (Drosophila) 139 cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 18 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) TGGGGGTGGCGTCTCGGTGCT 0.667000 33 92 0 0 1 0 0 TDRD9 122402 broad.mit.edu 37 14 104492043 104492043 + Missense_Mutation SNP C C T TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr14:104492043C>T ENST00000409874.4 + 26 2909 c.2861C>T c.(2860-2862)cCt>cTt p.P954L TDRD9_ENST00000339063.5_Missense_Mutation_p.P954L NM_153046.2 NP_694591.2 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 954 Tudor. cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) TGTCTGGCACCTTTTGCTGAT 0.438000 33 447 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129902953 129902953 + Missense_Mutation SNP C C T TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr10:129902953C>T ENST00000368654.3 - 13 7526 c.7151G>A c.(7150-7152)gGc>gAc p.G2384D MKI67_ENST00000368653.3_Missense_Mutation_p.G2024D NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2384 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CATGGCTTTGCCTGCTGATGG 0.458000 47 690 0 0 1 0 0 C1RL 51279 broad.mit.edu 37 12 7261741 7261741 + Missense_Mutation SNP C C G TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr12:7261741C>G ENST00000266542.4 - 1 128 c.36G>C c.(34-36)tgG>tgC p.W12C C1RL-AS1_ENST00000435921.2_RNA|C1RL-AS1_ENST00000382215.3_RNA|C1RL-AS1_ENST00000536679.1_RNA|C1RL-AS1_ENST00000541775.1_RNA|C1RL_ENST00000545337.1_Missense_Mutation_p.W12C|C1RL_ENST00000544702.1_Missense_Mutation_p.W12C|C1RL_ENST00000545280.1_Missense_Mutation_p.W12C NM_016546.2 NP_057630.2 Q9NZP8 C1RL_HUMAN complement component 1, r subcomponent-like 12 complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GAGGGCTTCTCCAGAGATATT 0.602000 OREG0021648 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 17 0 0 1 0 0 CEACAM1 634 broad.mit.edu 37 19 43031337 43031337 + Missense_Mutation SNP C C T TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr19:43031337C>T ENST00000161559.6 - 2 414 c.280G>A c.(280-282)Gca>Aca p.A94T CEACAM1_ENST00000358394.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000351134.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000599389.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000352591.5_Missense_Mutation_p.A94T|CEACAM1_ENST00000403461.1_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403444.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000308072.4_Missense_Mutation_p.A54T|LIPE-AS1_ENST00000594688.1_RNA NM_001712.4 NP_001703.2 P13688 CEAM1_HUMAN carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) 94 Ig-like V-type. angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway extracellular region|integral to plasma membrane|membrane fraction breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 17 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) CCGCTGTTTGCGGGCCCTGGG 0.488000 6 635 0 0 1 0 0 WIBG 84305 broad.mit.edu 37 12 56297190 56297190 + Missense_Mutation SNP G G A TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr12:56297190G>A ENST00000408946.2 - 2 263 c.112C>T c.(112-114)Ccc>Tcc p.P38S WIBG_ENST00000557259.1_3'UTR|WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000398213.4_Missense_Mutation_p.P37S|WIBG_ENST00000547925.1_3'UTR NM_032345.2 NP_115721.1 Q9BRP8 WIBG_HUMAN within bgcn homolog (Drosophila) 38 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm protein binding|ribosome binding|RNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 TCCTCCTGGGGCACATATCCT 0.493000 12 151 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20644850 20644850 + RNA SNP G G A TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr15:20644850G>A ENST00000428453.1 - 0 3097 p.A803V(4) central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CATGTCCCTCGCCCTTTCGGT 0.463000 6 80 0 0 1 0 0 HPS4 89781 broad.mit.edu 37 22 26860001 26860001 + Missense_Mutation SNP G G A TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr22:26860001G>A ENST00000398145.2 - 11 2211 c.1595C>T c.(1594-1596)gCa>gTa p.A532V HPS4_ENST00000398141.1_Missense_Mutation_p.A545V|HPS4_ENST00000402105.3_Missense_Mutation_p.A527V|HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000336873.5_Missense_Mutation_p.A532V NM_022081.4 NP_071364.4 Q9NQG7 HPS4_HUMAN Hermansky-Pudlak syndrome 4 532 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 32 GCAGGACTCTGCTGGTGTCAG 0.607000 Hermansky-Pudlak syndrome 44 107 0 0 1 0 0 ABCG4 64137 broad.mit.edu 37 11 119031673 119031673 + Missense_Mutation SNP C C T TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr11:119031673C>T ENST00000307417.3 + 15 2162 c.1798C>T c.(1798-1800)Cgg>Tgg p.R600W ABCG4_ENST00000531739.1_Missense_Mutation_p.R600W|ABCG4_ENST00000449422.2_Missense_Mutation_p.R600W NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 600 ABC transmembrane type-2. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CTGCCCGTTCCGGGAGCCACA 0.572000 6 63 0 0 1 0 0 KLRAP1 0 broad.mit.edu 37 12 10748356 10748356 + RNA SNP G G A rs12321831 byFrequency TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr12:10748356G>A ENST00000510134.2 - 0 315 breast(1)|large_intestine(1)|lung(1) 3 TGTATAAGGCGTGAATCCAGT 0.313000 4 156 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76920268 76920268 + Splice_Site SNP C C T TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chrX:76920268C>T ENST00000373344.5 - 11 4024 c.e11-1 ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 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) CTTGGCAATTCTTGAGAGTAA 0.303000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 32 34 0 0 1 0 0 PSMB1 5689 broad.mit.edu 37 6 170852781 170852781 + Missense_Mutation SNP C C T TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr6:170852781C>T ENST00000262193.6 - 4 439 c.341G>A c.(340-342)gGg>gAg p.G114E PSMB1_ENST00000462957.1_5'UTR NM_002793.3 NP_002784.1 P20618 PSB1_HUMAN proteasome (prosome, macropain) subunit, beta type, 1 114 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cell junction|cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643) Bortezomib(DB00188) AGCAATTGCCCCCGTAGTCAT 0.403000 48 178 0 0 1 0 0 ZNF143 7702 broad.mit.edu 37 11 9534059 9534059 + Silent SNP C C T TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr11:9534059C>T ENST00000396602.2 + 13 1559 c.1440C>T c.(1438-1440)gaC>gaT p.D480D ZNF143_ENST00000396604.1_Silent_p.D479D|ZNF143_ENST00000299606.2_Silent_p.D452D|ZNF143_ENST00000396597.3_Silent_p.D449D|ZNF143_ENST00000530463.1_Silent_p.D479D NM_003442.5 NP_003433.3 P52747 ZN143_HUMAN zinc finger protein 143 480 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm DNA binding|zinc ion binding p.D480D(1) endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 13 all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212) AAGGGGACGACGTTGTTTCTA 0.418000 38 244 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34924118 34924118 + Missense_Mutation SNP A A G rs142324795 TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr21:34924118A>G ENST00000356577.4 + 3 3056 c.2581A>G c.(2581-2583)Atg>Gtg p.M861V SON_ENST00000381679.4_Missense_Mutation_p.M861V|SON_ENST00000300278.4_Missense_Mutation_p.M861V|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.M861V NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 861 17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM. anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 AACTAGCTCAATGGATTCCCA 0.493000 13 455 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1023958 1023958 + Missense_Mutation SNP G G A TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr11:1023958G>A ENST00000421673.2 - 25 3421 c.3371C>T c.(3370-3372)cCg>cTg p.P1124L NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1124 maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCAGAAGGCCGGGGTCCTCCA 0.687000 3 51 0 0 1 0 0 KIAA0754 643314 broad.mit.edu 37 1 39878107 39878107 + Silent SNP C C T TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr1:39878107C>T ENST00000530275.1 + 1 1957 c.1762C>T c.(1762-1764)Ctg>Ttg p.L588L MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 588 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGCAAAAGAGCTGGATTATCA 0.448000 20 68 0 0 1 0 0 PRKCG 5582 broad.mit.edu 37 19 54403579 54403579 + Splice_Site SNP G G A TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr19:54403579G>A ENST00000263431.3 + 12 1655 c.e12+1 PRKCG_ENST00000542049.1_Splice_Site|PRKCG_ENST00000540413.1_Splice_Site NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding p.?(1) large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CCCATGCAGCGTGAGTCTCGG 0.597000 21 64 0 0 1 0 0 INTS10 55174 broad.mit.edu 37 8 19694646 19694646 + Silent SNP G G A TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr8:19694646G>A ENST00000397977.3 + 13 2012 c.1614G>A c.(1612-1614)tcG>tcA p.S538S NM_018142.2 NP_060612.2 Q9NVR2 INT10_HUMAN integrator complex subunit 10 538 snRNA processing integrator complex protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 20 Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215) AGGAACCCTCGAAAGTAAAGC 0.403000 4 108 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101765779 101765779 + Silent SNP C C T TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr9:101765779C>T ENST00000375001.3 + 8 1533 c.1110C>T c.(1108-1110)agC>agT p.S370S NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 370 4 X tandem repeats.|Nonhelical region 1 (NC1). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TGCCCATCAGCACTGCTGGAG 0.577000 23 175 0 0 1 0 0 CLCN4 0 broad.mit.edu 37 X 10176378 10176378 + Silent SNP C C T TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chrX:10176378C>T ENST00000380833.4 + 9 1528 c.1137C>T c.(1135-1137)atC>atT p.I379I CLCN4_ENST00000380829.1_Silent_p.I348I|CLCN4_ENST00000421085.2_Silent_p.I285I NM_001256944.1|NM_001830.3 NP_001243873.1|NP_001821.2 P51793 CLCN4_HUMAN chloride channel, voltage-sensitive 4 379 early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TGACTGCCATCACTGCCATCA 0.582000 23 247 0 0 1 0 0 XPO4 64328 broad.mit.edu 37 13 21361632 21361632 + Silent SNP C C T TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr13:21361632C>T ENST00000400602.2 - 21 3188 c.3153G>A c.(3151-3153)cgG>cgA p.R1051R XPO4_ENST00000255305.6_Silent_p.R1051R NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 1051 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) TAAGAAAGTGCCGTGTTGCTA 0.458000 5 159 0 0 1 0 0 FOLR1 2348 broad.mit.edu 37 11 71906440 71906440 + Silent SNP G G A TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr11:71906440G>A ENST00000393679.1 + 3 730 c.294G>A c.(292-294)cgG>cgA p.R98R FOLR1_ENST00000393681.2_Silent_p.R98R|FOLR1_ENST00000393676.3_Silent_p.R98R|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_Silent_p.R98R P15328 FOLR1_HUMAN folate receptor 1 (adult) 98 cell death|folic acid transport|receptor-mediated endocytosis anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction folic acid binding|receptor activity cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 14 CCTGCAAACGGCATTTCATCC 0.542000 5 492 0 0 1 0 0 PEX10 5192 broad.mit.edu 37 1 2343881 2343881 + Frame_Shift_Del DEL A A - TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr1:2343881delA ENST00000288774.3 - 1 88 c.61delT c.(61-63)acfs p.Y21fs PEX10_ENST00000447513.2_Frame_Shift_Del_p.Y21fs|PEX10_ENST00000507596.1_Frame_Shift_Del_p.Y21fs NM_153818.1 NP_722540.1 O60683 PEX10_HUMAN peroxisomal biogenesis factor 10 21 protein import into peroxisome matrix integral to peroxisomal membrane|peroxisomal membrane protein binding|protein C-terminus binding|zinc ion binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2) 7 all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199) CCACCGCGGTAGTACTCGTCC 0.801 2 4 --- --- --- --- ERAP2 64167 broad.mit.edu 37 5 96232446 96232446 + Frame_Shift_Del DEL T T - TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr5:96232446delT ENST00000437043.3 + 9 2093 c.1382delT c.(1381-1383)atfs p.I461fs CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000515095.1_3'UTR|ERAP2_ENST00000379904.4_Frame_Shift_Del_p.I416fs NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 461 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) GGAGCTTGTATTTTGAATATG 0.303 50 191 --- --- --- --- PCDHB11 0 broad.mit.edu 37 5 140579893 140579894 + Frame_Shift_Del DEL GA GA - TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr5:140579893_140579894delGA ENST00000354757.3 + 1 546_547 c.546_547delGA c.(544-549)atgafs p.MR182fs PCDHB11_ENST00000536699.1_Intron NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 182 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACATTAAAATGAGAGTCATTCC 0.431 66 160 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25310192 25310193 + RNA INS - - A TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr15:25310192_25310193insA ENST00000549804.2 + 0 538 SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA ATGAGTCCTCCAAAAAAAACAT 0.475 7 548 --- --- --- --- NR2E3 10002 broad.mit.edu 37 15 72104223 72104224 + RNA INS - - G TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr15:72104223_72104224insG ENST00000398840.2 + 0 539 Q9Y5X4 NR2E3_HUMAN nuclear receptor subfamily 2, group E, member 3 phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|endometrium(1)|lung(1) 3 AGGCGGGGGCTGGCCCGGGGGG 0.693 2 4 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29527570 29527571 + Frame_Shift_Ins INS - - T TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr17:29527570_29527571insT ENST00000358273.4 + 9 1402_1403 c.1019_1020insT c.(1018-1020)tgtfs p.C340fs NF1_ENST00000431387.4_Frame_Shift_Ins_p.C340fs|NF1_ENST00000356175.3_Frame_Shift_Ins_p.C340fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 340 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(6) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GAAGATAACTCTGTCATTTTCC 0.381 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 66 160 --- --- --- --- PPM1D 8493 broad.mit.edu 37 17 58740542 58740543 + Frame_Shift_Del DEL AC AC - TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr17:58740542_58740543delAC ENST00000305921.3 + 6 1679_1680 c.1447_1448delAC c.(1447-1449)tfs p.T483fs NM_003620.3 NP_003611.1 O15297 PPM1D_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1D 483 negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) TAAAGCCCTGACTTTAAGGATA 0.391 OREG0031485 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 72 217 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chr19:43969653_43969655delAGC ENST00000244333.3 - 1 157_159 c.69_71delGCT c.(67-72)ctt>ct p.LL23del NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 9 231 --- --- --- --- RPL10 6134 broad.mit.edu 37 X 153627860 153627860 + Frame_Shift_Del DEL A A - TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce 965e64ae-5bfb-4257-b38e-357df250f9f2 g.chrX:153627860delA ENST00000424325.2 + 4 303 c.115delA c.(115-117)aafs p.K40fs RPL10_ENST00000406022.2_5'UTR|RPL10_ENST00000369817.2_Frame_Shift_Del_p.K40fs NM_001256577.1|NM_001256580.1|NM_006013.3 NP_001243506.1|NP_001243509.1|NP_006004.2 P27635 RL10_HUMAN ribosomal protein L10 40 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|endoplasmic reticulum structural constituent of ribosome large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCTGGGGCGGAAAAAGGCAAA 0.512 OREG0019957 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 210 --- --- --- ---