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 OGDHL 55753 broad.mit.edu 37 10 50952768 50952768 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:50952768C>T ENST00000374103.4 - 13 1745 c.1660G>A c.(1660-1662)Gag>Aag p.E554K OGDHL_ENST00000432695.1_Missense_Mutation_p.E345K|OGDHL_ENST00000419399.1_Missense_Mutation_p.E497K NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 554 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 TAAGCCTCCTCACAGATCCGG 0.542000 21 40 0 0 1 0 0 RHBDL2 54933 broad.mit.edu 37 1 39384795 39384795 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:39384795C>T ENST00000289248.2 - 2 1098 c.90G>A c.(88-90)atG>atA p.M30I RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372985.3_Missense_Mutation_p.M110I|RHBDL2_ENST00000372990.1_Missense_Mutation_p.M30I|RHBDL2_ENST00000540558.1_Missense_Mutation_p.M30I|RHBDL2_ENST00000538156.1_Missense_Mutation_p.M97I Q9NX52 RHBL2_HUMAN rhomboid, veinlet-like 2 (Drosophila) 30 proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3) 8 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) CATCCTCTCTCATTTTCTCCT 0.488000 27 91 0 0 1 0 0 NEU4 129807 broad.mit.edu 37 2 242757402 242757402 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:242757402C>T ENST00000391969.2 + 5 1194 c.483C>T c.(481-483)ccC>ccT p.P161P NEU4_ENST00000325935.6_Silent_p.P174P|NEU4_ENST00000405370.1_Silent_p.P161P|NEU4_ENST00000407683.1_Silent_p.P161P|NEU4_ENST00000404257.1_Silent_p.P173P NM_001167602.1 NP_001161074.1 Q8WWR8 NEUR4_HUMAN sialidase 4 161 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) CTGTGGGTCCCGGCCACGGCG 0.706000 9 6 0 0 1 0 0 DHRS7 51635 broad.mit.edu 37 14 60622822 60622822 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:60622822C>G ENST00000216500.5 - 3 637 c.182G>C c.(181-183)gGa>gCa p.G61A DHRS7_ENST00000557185.1_Missense_Mutation_p.G61A|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000536410.2_Missense_Mutation_p.G11A|PCNXL4_ENST00000553898.1_Intron Q9Y394 DHRS7_HUMAN dehydrogenase/reductase (SDR family) member 7 61 binding|oxidoreductase activity endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(108;0.121) CTCACCAATTCCACTCGAGGC 0.463000 29 47 0 0 1 0 0 ZNF518B 85460 broad.mit.edu 37 4 10446215 10446215 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr4:10446215G>A ENST00000326756.3 - 3 2176 c.1738C>T c.(1738-1740)Cac>Tac p.H580Y NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 580 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 ACTGCCTTGTGTTCCTCTGTC 0.393000 30 47 0 0 1 0 0 CDON 50937 broad.mit.edu 37 11 125889642 125889642 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr11:125889642G>A ENST00000392693.3 - 4 495 c.368C>T c.(367-369)tCa>tTa p.S123L CDON_ENST00000263577.7_Missense_Mutation_p.S123L NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 123 Ig-like C2-type 2. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) CTTTGTGGATGAACCAAAATC 0.353000 13 30 0 0 1 0 0 P2RX3 5024 broad.mit.edu 37 11 57135555 57135555 + Silent SNP C C T rs150261482 TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr11:57135555C>T ENST00000263314.2 + 9 949 c.915C>T c.(913-915)ttC>ttT p.F305F NM_002559.3 NP_002550.2 P56373 P2RX3_HUMAN purinergic receptor P2X, ligand-gated ion channel, 3 305 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1) 26 GCATCCGCTTCGACGTGCTGG 0.567000 12 76 0 0 1 0 0 PLXNC1 10154 broad.mit.edu 37 12 94658921 94658921 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr12:94658921G>A ENST00000258526.4 + 21 3766 c.3517G>A c.(3517-3519)Gtg>Atg p.V1173M PLXNC1_ENST00000545312.1_5'UTR|PLXNC1_ENST00000547057.1_Missense_Mutation_p.V220M NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 1173 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CAAGGGTCCCGTGGATGTAAT 0.448000 109 139 0 0 1 0 0 ALDH4A1 8659 broad.mit.edu 37 1 19204070 19204070 + Missense_Mutation SNP G G A rs139430775 TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:19204070G>A ENST00000375341.3 - 10 1234 c.977C>T c.(976-978)tCg>tTg p.S326L ALDH4A1_ENST00000538839.1_Missense_Mutation_p.S326L|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.S266L|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.S326L NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family, member A1 326 proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) CACGTCGGCCGAGCGGTGCAC 0.672000 3 19 0 0 1 0 0 GDF5OS 554250 broad.mit.edu 37 20 34022585 34022585 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr20:34022585G>C ENST00000374375.1 + 2 1071 c.629G>C c.(628-630)aGa>aCa p.R210T GDF5_ENST00000374369.3_Intron|GDF5_ENST00000374372.1_Intron cervix(1)|endometrium(4)|lung(4) 9 CGGTCATCTAGAGAGAACACC 0.607000 67 117 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108923757 108923757 + Silent SNP G G T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:108923757G>T ENST00000263054.6 - 1 535 c.528C>A c.(526-528)gcC>gcA p.A176A SORCS1_ENST00000344440.6_Silent_p.A176A NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 176 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AGTGGACCATGGCTTGGTTGT 0.582000 19 36 2.89027e-11 3.11432e-11 1 1 0 TBC1D2B 23102 broad.mit.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T rs117285325 by1000genomes TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr15:78290635C>T ENST00000409931.3 - 13 2778 c.2707G>A c.(2707-2709)Gac>Aac p.D903N TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q|TBC1D2B_ENST00000492078.1_5'UTR Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 0 intracellular protein binding|Rab GTPase activator activity p.D903N(3)|p.R920Q(1) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GTAGGCGCGTCGGTTCCGGAT 0.617000 4 15 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25959383 25959383 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr15:25959383C>T ENST00000356865.6 - 10 1893 c.1782G>A c.(1780-1782)agG>agA p.R594R NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 594 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) CAAACCTCACCCTCACCTGCA 0.602000 19 26 0 0 1 0 0 ATF7IP 55729 broad.mit.edu 37 12 14649244 14649244 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr12:14649244C>T ENST00000544627.1 + 14 3704 c.3384C>T c.(3382-3384)ctC>ctT p.L1128L ATF7IP_ENST00000536444.1_Silent_p.L1119L|ATF7IP_ENST00000540793.1_Silent_p.L1120L|ATF7IP_ENST00000261168.4_Silent_p.L1120L Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 1120 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 GACCTCAGCTCACAGTGCATC 0.393000 20 38 0 0 1 0 0 THUMPD2 80745 broad.mit.edu 37 2 39964112 39964112 + Silent SNP A A T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:39964112A>T ENST00000505747.1 - 10 1302 c.1275T>A c.(1273-1275)ccT>ccA p.P425P THUMPD2_ENST00000260619.6_Silent_p.P395P NM_025264.4 NP_079540.2 Q9BTF0 THUM2_HUMAN THUMP domain containing 2 425 methyltransferase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 17 all_hematologic(82;0.248) TGGAATTGAAAGGGATGTTGC 0.418000 36 62 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70504238 70504238 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:70504238G>A ENST00000310961.5 + 22 3050 c.2632G>A c.(2632-2634)Gaa>Aaa p.E878K LRRC7_ENST00000415775.2_Missense_Mutation_p.E157K|LRRC7_ENST00000035383.5_Missense_Mutation_p.E873K Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 873 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 CCCATTGCCTGAAAGGAAAGA 0.458000 35 63 0 0 1 0 0 WDR96 80217 broad.mit.edu 37 10 105903255 105903255 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:105903255C>T ENST00000357060.3 - 32 4202 c.4087G>A c.(4087-4089)Gaa>Aaa p.E1363K WDR96_ENST00000428666.1_Missense_Mutation_p.E1335K NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 1363 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TCCAAGCCTTCTGGCATGTTA 0.383000 22 53 0 0 1 0 0 SPINK5 11005 broad.mit.edu 37 5 147475436 147475436 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr5:147475436G>A ENST00000359874.3 + 10 923 c.850G>A c.(850-852)Gaa>Aaa p.E284K SPINK5_ENST00000256084.7_Missense_Mutation_p.E284K|SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000398454.1_Missense_Mutation_p.E284K NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 284 Kazal-like 4. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGAAAAGCTGAAGAAAAAAC 0.373000 35 30 0 0 1 0 0 CDR1 1038 broad.mit.edu 37 X 139866322 139866322 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chrX:139866322C>T ENST00000370532.2 - 1 401 c.210G>A c.(208-210)tcG>tcA p.S70S NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 70 23 X 6 AA approximate repeats. p.S70S(1) breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) CCATAGCTTCCGAAAAATCCA 0.458000 3 48 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62297946 62297946 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr11:62297946C>T ENST00000378024.4 - 5 4217 c.3943G>A c.(3943-3945)Gag>Aag p.E1315K AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1315 nervous system development nucleus protein binding p.E1315Q(1) NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AAGTGCATCTCAGGCATCTTA 0.522000 8 186 0 0 1 0 0 OR14J1 442191 broad.mit.edu 37 6 29274779 29274779 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:29274779C>T ENST00000377160.2 + 1 377 c.313C>T c.(313-315)Ctg>Ttg p.L105L NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 CTTCATAGCTCTGGCCTCATC 0.453000 47 43 0 0 1 0 0 ZNF860 344787 broad.mit.edu 37 3 32031962 32031962 + Missense_Mutation SNP A A G rs1808125 by1000genomes TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr3:32031962A>G ENST00000360311.4 + 2 1940 c.1391A>G c.(1390-1392)cAt>cGt p.H464R NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 464 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 AAGACCTTCCATCACAATTCA 0.418000 5 120 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153224926 153224926 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chrX:153224926G>A ENST00000310441.7 - 9 2427 c.1461C>T c.(1459-1461)ctC>ctT p.L487L HCFC1_ENST00000369984.4_Silent_p.L487L|HCFC1_ENST00000354233.3_Silent_p.L418L NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 487 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGGTCACTTTGAGAACAGCAG 0.612000 16 26 0 0 1 0 0 CNOT6L 246175 broad.mit.edu 37 4 78650194 78650194 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr4:78650194C>G ENST00000504123.1 - 10 1196 c.1066G>C c.(1066-1068)Gtg>Ctg p.V356L CNOT6L_ENST00000264903.4_Missense_Mutation_p.V356L Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 356 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 9 GCATTTGCCACTATAAGCAGC 0.388000 22 60 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29162311 29162311 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:29162311G>A ENST00000321990.4 + 2 1590 c.1212G>A c.(1210-1212)atG>atA p.M404I CTD-2349P21.11_ENST00000580873.1_RNA NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 404 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AGCAATTTATGAAAGCATTTA 0.358000 12 44 0 0 1 0 0 C19orf73 55150 broad.mit.edu 37 19 49622031 49622031 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:49622031G>A ENST00000408991.2 - 1 366 c.249C>T c.(247-249)tcC>tcT p.S83S NM_018111.2 NP_060581.2 Q9NVV2 CS073_HUMAN chromosome 19 open reading frame 73 83 large_intestine(1)|lung(2) 3 AAACGCAGCCGGAGCCAGTGG 0.657000 3 83 0 0 1 0 0 HPS4 89781 broad.mit.edu 37 22 26860275 26860275 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr22:26860275C>G ENST00000398145.2 - 11 1937 c.1321G>C c.(1321-1323)Gag>Cag p.E441Q HPS4_ENST00000336873.5_Missense_Mutation_p.E441Q|HPS4_ENST00000402105.3_Missense_Mutation_p.E436Q|HPS4_ENST00000398141.1_Missense_Mutation_p.E454Q NM_022081.5 NP_071364.4 Q9NQG7 HPS4_HUMAN Hermansky-Pudlak syndrome 4 441 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 TCGAGCTGCTCTTGGGCTCCA 0.632000 Hermansky-Pudlak syndrome 27 79 0 0 1 0 0 NUPL2 11097 broad.mit.edu 37 7 23239972 23239972 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr7:23239972G>A ENST00000258742.5 + 7 1139 c.880G>A c.(880-882)Gaa>Aaa p.E294K NM_007342.2 NP_031368.1 O15504 NUPL2_HUMAN nucleoporin like 2 294 Ser-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nuclear pore nuclear export signal receptor activity|nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TGGGAAGCCTGAAGTCACATC 0.502000 9 10 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29533336 29533336 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:29533336C>T ENST00000358273.4 + 12 1722 c.1339C>T c.(1339-1341)Ctt>Ttt p.L447F NF1_ENST00000431387.4_Missense_Mutation_p.L447F|NF1_ENST00000356175.3_Missense_Mutation_p.L447F NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 447 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) TGGTGAAACACTTCATAAAGC 0.413000 """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) 40 90 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101442180 101442180 + Splice_Site SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr12:101442180G>A ENST00000392979.3 + 13 1568 c.e13+1 ANO4_ENST00000550015.1_Splice_Site|ANO4_ENST00000392977.3_Splice_Site|ANO4_ENST00000299222.9_Splice_Site NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 GCAGTCTGGGGTAAGTGTTCT 0.373000 HNSCC(74;0.22) 13 39 0 0 1 0 0 TLE1 7088 broad.mit.edu 37 9 84235445 84235445 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr9:84235445G>A ENST00000376499.3 - 9 1686 c.622C>T c.(622-624)Cta>Tta p.L208L TLE1_ENST00000464999.1_5'UTR|TLE1_ENST00000376472.1_5'UTR NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 208 CCN domain. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 GTGCCTCTTAGACTGTCTGGG 0.408000 16 50 0 0 1 0 0 IGHV3-73 28409 broad.mit.edu 37 14 107211238 107211238 + RNA SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:107211238G>C ENST00000390636.2 - 0 130 CCTCACACTGGACACCTGCAA 0.572000 88 79 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241710491 241710491 + Nonsense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:241710491G>C ENST00000498729.2 - 15 1484 c.1238C>G c.(1237-1239)tCa>tGa p.S413* KIF1A_ENST00000320389.7_Nonsense_Mutation_p.S404* NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 404 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GAGCGAGGATGAGGGGCTCAT 0.617000 13 40 0 0 1 0 0 RBM27 54439 broad.mit.edu 37 5 145609388 145609388 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr5:145609388G>C ENST00000265271.5 + 5 670 c.504G>C c.(502-504)aaG>aaC p.K168N RBM27_ENST00000506502.1_Missense_Mutation_p.K168N NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 168 Arg-rich. mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCAggagtaagagtcggagta 0.493000 38 57 0 0 1 0 0 ACRC 93953 broad.mit.edu 37 X 70823836 70823836 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chrX:70823836G>A ENST00000373695.1 + 7 1246 c.709G>A c.(709-711)Gac>Aac p.D237N ACRC_ENST00000373696.3_Missense_Mutation_p.D237N Q96QF7 ACRC_HUMAN acidic repeat containing 237 Asp/Ser-rich. nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) TGTTCCCGACGACAGCAGTGA 0.537000 248 47 0 0 1 0 0 M1AP 130951 broad.mit.edu 37 2 74842183 74842183 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:74842183G>A ENST00000290536.5 - 3 450 c.334C>T c.(334-336)Ctg>Ttg p.L112L M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Silent_p.L112L|M1AP_ENST00000409585.1_Silent_p.L112L NM_001281296.1|NM_138804.3 NP_001268225.1|NP_620159.2 meiosis 1 associated protein GCCAGCCGCAGAGAAGCACCT 0.507000 32 87 0 0 1 0 0 RGS14 10636 broad.mit.edu 37 5 176794807 176794807 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr5:176794807C>T ENST00000408923.3 + 7 908 c.720C>T c.(718-720)ctC>ctT p.L240L NM_006480.4 NP_006471.2 O43566 RGS14_HUMAN regulator of G-protein signaling 14 240 chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1) 12 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCGCCCTCTCCGCAAGTCCT 0.652000 11 8 0 0 1 0 0 TRAK2 66008 broad.mit.edu 37 2 202264201 202264201 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:202264201C>T ENST00000332624.3 - 5 807 c.379G>A c.(379-381)Gaa>Aaa p.E127K TRAK2_ENST00000430254.1_Missense_Mutation_p.E127K NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 127 early endosome|plasma membrane GABA receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 GCAGCGAGTTCCAGATCACGA 0.413000 12 51 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121767723 121767723 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr5:121767723G>A ENST00000261367.7 + 8 2811 c.1383G>A c.(1381-1383)ctG>ctA p.L461L SNCAIP_ENST00000379533.2_Silent_p.L461L|SNCAIP_ENST00000503116.2_Silent_p.L461L|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379536.2_Silent_p.L354L|SNCAIP_ENST00000261368.8_Silent_p.L414L|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000379538.3_Silent_p.L48L Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 414 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) TTGCAGAACTGAGTTGTTCTA 0.403000 30 17 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89405073 89405073 + RNA SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr11:89405073G>A ENST00000532352.1 + 0 1013 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 GTCATTCTGGGAGGTCACCGG 0.408000 17 60 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027156 37027156 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chrX:37027156C>G ENST00000358047.3 + 1 725 c.673C>G c.(673-675)Cag>Gag p.Q225E NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 225 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TCTCCGCCCACAGCCTCCCAA 0.647000 4 72 0 0 1 0 0 GGH 8836 broad.mit.edu 37 8 63939794 63939794 + Silent SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr8:63939794G>C ENST00000260118.6 - 4 708 c.306C>G c.(304-306)ctC>ctG p.L102L GGH_ENST00000518113.1_5'UTR NM_003878.2 NP_003869.1 Q92820 GGH_HUMAN gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) 102 Gamma-glutamyl hydrolase. glutamine metabolic process extracellular space|lysosome|melanosome gamma-glutamyl-peptidase activity breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1) 11 Breast(64;0.0716) all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131) Folic Acid(DB00158)|L-Glutamic Acid(DB00142) CTGAGCGTCTGAGGTCAACAC 0.383000 35 111 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105377858 105377858 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr3:105377858C>T ENST00000264122.4 - 19 3226 c.2905G>A c.(2905-2907)Gaa>Aaa p.E969K CBLB_ENST00000394027.3_Missense_Mutation_p.E947K|CBLB_ENST00000407712.1_Missense_Mutation_p.E184K NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 969 UBA. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 AAGGCAAATTCTCGGAGGATG 0.468000 Mis S AML 30 45 0 0 1 0 0 SYT4 6860 broad.mit.edu 37 18 40854029 40854029 + Missense_Mutation SNP G G T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr18:40854029G>T ENST00000255224.3 - 2 733 c.365C>A c.(364-366)aCc>aAc p.T122N SYT4_ENST00000590752.1_Missense_Mutation_p.T104N|SYT4_ENST00000586678.1_Intron NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 122 cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 GAGCTTCGGGGTTGCATTCTC 0.433000 22 49 9.78306e-22 1.08788e-21 1 1 0 SDHAP3 728609 broad.mit.edu 37 5 1589406 1589406 + RNA SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr5:1589406C>T ENST00000436493.2 - 0 472 ATGCTTCCATCAGCAAATCTC 0.453000 11 31 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102069129 102069129 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr12:102069129C>G ENST00000549145.1 + 26 2987 c.2887C>G c.(2887-2889)Ctc>Gtc p.L963V MYBPC1_ENST00000547509.1_Missense_Mutation_p.L918V|MYBPC1_ENST00000545503.2_Missense_Mutation_p.L932V|MYBPC1_ENST00000553190.1_Missense_Mutation_p.L932V|MYBPC1_ENST00000551300.1_Missense_Mutation_p.L833V|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000361466.2_Missense_Mutation_p.L957V|MYBPC1_ENST00000452455.2_Missense_Mutation_p.L950V|MYBPC1_ENST00000550270.1_Missense_Mutation_p.L950V|MYBPC1_ENST00000441232.1_Missense_Mutation_p.L950V|MYBPC1_ENST00000536007.1_Missense_Mutation_p.L913V|MYBPC1_ENST00000360610.2_Missense_Mutation_p.L950V|MYBPC1_ENST00000547405.1_Missense_Mutation_p.L906V|MYBPC1_ENST00000541119.1_Missense_Mutation_p.L920V|MYBPC1_ENST00000361685.2_Missense_Mutation_p.L957V|MYBPC1_ENST00000392934.3_Missense_Mutation_p.L919V Q00872 MYPC1_HUMAN myosin binding protein C, slow type 950 Fibronectin type-III 3. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 AAATGTCGCTCTCACATGGAC 0.478000 17 39 0 0 1 0 0 ST6GALNAC4 27090 broad.mit.edu 37 9 130670821 130670821 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr9:130670821C>G ENST00000335791.5 - 6 1034 c.759G>C c.(757-759)gaG>gaC p.E253D ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.E169D|ST6GALNAC4_ENST00000495983.1_5'UTR NM_175039.3 NP_778204.1 Q9H4F1 SIA7D_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 253 glycolipid metabolic process|protein glycosylation integral to Golgi membrane|nucleus|soluble fraction (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity endometrium(1)|large_intestine(2)|lung(2)|prostate(2) 7 GCCGGCCCTTCTCAAAGTAGT 0.647000 44 48 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 114185981 114185981 + Missense_Mutation SNP A A T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr8:114185981A>T ENST00000297405.5 - 4 923 c.679T>A c.(679-681)Tcg>Acg p.S227T CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Missense_Mutation_p.S227T|CSMD3_ENST00000455883.2_Missense_Mutation_p.S227T|CSMD3_ENST00000343508.3_Missense_Mutation_p.S187T NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 227 Sushi 1. 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 AAATCCCACGAAGCTGTATTA 0.428000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 41 139 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150444774 150444774 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:150444774G>A ENST00000401000.4 + 10 3337 c.3272G>A c.(3271-3273)aGa>aAa p.R1091K RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.R1117K Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 1117 protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 AAGGGAAATAGAGGACATGGG 0.522000 6 19 0 0 1 0 0 PIGS 94005 broad.mit.edu 37 17 26890869 26890869 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:26890869C>T ENST00000308360.7 - 4 718 c.343G>A c.(343-345)Gag>Aag p.E115K PIGS_ENST00000543734.1_Missense_Mutation_p.E54K|PIGS_ENST00000395346.2_Missense_Mutation_p.E107K NM_033198.3 NP_149975.1 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, class S 115 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) GCCTCCTCCTCATGGTCCAAA 0.478000 43 130 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 9 119 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40050336 40050336 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr20:40050336G>C ENST00000373233.3 - 31 5116 c.4939C>G c.(4939-4941)Caa>Gaa p.Q1647E NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1647 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CTACTCATTTGAGAATATGTA 0.423000 12 26 0 0 1 0 0 PCDHGA10 56106 broad.mit.edu 37 5 140793016 140793016 + Missense_Mutation SNP G G T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr5:140793016G>T ENST00000398610.2 + 1 274 c.274G>T c.(274-276)Ggc>Tgc p.G92C PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATCACCGCGGGCAGGATAGA 0.602000 62 58 3.19467e-53 3.59562e-53 1 1 0 POLD3 10714 broad.mit.edu 37 11 74340342 74340342 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr11:74340342C>G ENST00000263681.2 + 9 1109 c.980C>G c.(979-981)cCt>cGt p.P327R POLD3_ENST00000532497.1_Missense_Mutation_p.P221R|POLD3_ENST00000527458.1_Missense_Mutation_p.P288R NM_006591.2 NP_006582.1 Q15054 DPOD3_HUMAN polymerase (DNA-directed), delta 3, accessory subunit 327 base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm DNA-directed DNA polymerase activity|protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1) 18 Breast(11;3.21e-06) ATCAAACTTCCTGAATCTGAT 0.388000 4 72 0 0 1 0 0 KIF1C 10749 broad.mit.edu 37 17 4905368 4905368 + Silent SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:4905368C>G ENST00000320785.5 + 6 735 c.378C>G c.(376-378)ctC>ctG p.L126L NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 126 Kinesin-motor. microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 GTGAGGACCTCTTCTCTCGCG 0.587000 34 48 0 0 1 0 0 C1orf116 79098 broad.mit.edu 37 1 207196604 207196604 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:207196604C>T ENST00000359470.5 - 4 754 c.505G>A c.(505-507)Gag>Aag p.E169K C1orf116_ENST00000461135.2_5'UTR NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 169 cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) TGTTCTTTCTCAGGCTCTGGC 0.602000 25 33 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158922867 158922867 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:158922867G>A ENST00000367097.3 + 13 3529 c.2172G>A c.(2170-2172)ctG>ctA p.L724L TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 724 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) TAGATGTCCTGACCAACCAGA 0.567000 83 34 0 0 1 0 0 ACSM5 54988 broad.mit.edu 37 16 20441100 20441100 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr16:20441100G>A ENST00000331849.4 + 8 1249 c.1102G>A c.(1102-1104)Gaa>Aaa p.E368K NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 368 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 GGAGCTGTACGAAGGCTATGG 0.617000 11 51 0 0 1 0 0 SERTAD1 29950 broad.mit.edu 37 19 40928872 40928872 + Silent SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:40928872G>C ENST00000357949.4 - 2 740 c.582C>G c.(580-582)ctC>ctG p.L194L NM_013376.3 NP_037508.2 Q9UHV2 SRTD1_HUMAN SERTA domain containing 1 194 positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(2)|lung(1)|prostate(1)|skin(1) 5 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGCCTGGTTTGAGGCCCTCAG 0.582000 4 6 0 0 1 0 0 GSKIP 51527 broad.mit.edu 37 14 96852000 96852000 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:96852000G>C ENST00000556095.1 + 4 2211 c.399G>C c.(397-399)ttG>ttC p.L133F GSKIP_ENST00000438650.1_Missense_Mutation_p.L133F|GSKIP_ENST00000555181.1_Missense_Mutation_p.L133F|GSKIP_ENST00000554182.1_Missense_Mutation_p.L133F NM_001271904.1 NP_001258833.1 GSK3B interacting protein TGGAAGCTTTGAAAAGAGATG 0.438000 66 62 0 0 1 0 0 SP100 6672 broad.mit.edu 37 2 231308897 231308897 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:231308897C>T ENST00000264052.5 + 4 630 c.275C>T c.(274-276)tCt>tTt p.S92F SP100_ENST00000409112.1_Missense_Mutation_p.S92F|SP100_ENST00000409341.1_Missense_Mutation_p.S92F|SP100_ENST00000341950.4_Missense_Mutation_p.S92F|SP100_ENST00000409824.1_Missense_Mutation_p.S67F|SP100_ENST00000340126.4_Missense_Mutation_p.S92F|SP100_ENST00000409897.1_Missense_Mutation_p.S57F|SP100_ENST00000427101.2_Missense_Mutation_p.S67F NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 92 HSR. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TTTAAGGATTCTCAAGATTCT 0.363000 14 24 0 0 1 0 0 CD207 50489 broad.mit.edu 37 2 71060100 71060100 + Nonsense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:71060100C>T ENST00000410009.3 - 4 693 c.648G>A c.(646-648)tgG>tgA p.W216* NM_015717.3 NP_056532 Q9UJ71 CLC4K_HUMAN CD207 molecule, langerin 216 C-type lectin. defense response to virus endocytic vesicle|integral to membrane mannose binding endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 CGGCACTATACCAGGTCTTTG 0.478000 15 36 0 0 1 0 0 MFSD1 64747 broad.mit.edu 37 3 158538031 158538031 + Missense_Mutation SNP A A C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr3:158538031A>C ENST00000415822.2 + 9 1067 c.926A>C c.(925-927)aAg>aCg p.K309T MFSD1_ENST00000392813.4_Missense_Mutation_p.K270T|MFSD1_ENST00000264266.8_Missense_Mutation_p.K260T NM_022736.2 NP_073573.2 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 1 260 transmembrane transport integral to membrane p.K260R(1)|p.K309R(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 26 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) ACTGATGTAAAGGACTTCTCC 0.363000 40 75 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89351818 89351818 + Missense_Mutation SNP T T C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr16:89351818T>C ENST00000301030.4 - 9 1592 c.1132A>G c.(1132-1134)Aat>Gat p.N378D ANKRD11_ENST00000378330.2_Missense_Mutation_p.N378D NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 378 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) ATAAAACTATTGGATTTCGTT 0.433000 27 55 0 0 1 0 0 DEK 7913 broad.mit.edu 37 6 18264194 18264194 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:18264194C>T ENST00000397239.3 - 2 472 c.25G>A c.(25-27)Gag>Aag p.E9K DEK_ENST00000244776.7_Missense_Mutation_p.E9K NM_003472.3 NP_003463.1 P35659 DEK_HUMAN DEK oncogene 9 chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) CCCTCCCCCTCCGCAGCAGGG 0.682000 T NUP214 AML 18 29 0 0 1 0 0 UMOD 7369 broad.mit.edu 37 16 20344666 20344666 + Silent SNP G G T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr16:20344666G>T ENST00000396134.2 - 12 2115 c.1992C>A c.(1990-1992)ctC>ctA p.L664L UMOD_ENST00000302509.4_Silent_p.L631L|UMOD_ENST00000570689.1_Silent_p.L631L|UMOD_ENST00000424589.1_Silent_p.L664L|UMOD_ENST00000396138.4_Silent_p.L680L|UMOD_ENST00000396142.2_Silent_p.L631L|UMOD_ENST00000570331.1_5'UTR NM_001278614.1 NP_001265543.1 P07911 UROM_HUMAN uromodulin 631 cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 AGGTGGCCGAGAGAAGCAGAG 0.542000 6 30 0.000274275 0.000282402 1 1 0 EPB41L3 23136 broad.mit.edu 37 18 5394743 5394743 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr18:5394743G>A ENST00000341928.2 - 22 3543 c.3203C>T c.(3202-3204)tCa>tTa p.S1068L EPB41L3_ENST00000540638.2_Missense_Mutation_p.S846L|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Missense_Mutation_p.S373L|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.S846L|EPB41L3_ENST00000427684.2_Missense_Mutation_p.S365L|EPB41L3_ENST00000342933.3_Missense_Mutation_p.S1068L NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 1068 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 TTTGGTCACTGACATGTCAGG 0.502000 24 74 0 0 1 0 0 PRKD3 23683 broad.mit.edu 37 2 37481367 37481367 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:37481367G>A ENST00000379066.1 - 18 3241 c.2479C>T c.(2479-2481)Ctt>Ttt p.L827F PRKD3_ENST00000234179.2_Missense_Mutation_p.L827F O94806 KPCD3_HUMAN protein kinase D3 827 Protein kinase. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) GGATGACTAAGAGATTTGTCA 0.368000 23 30 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73849756 73849756 + Silent SNP T T C rs114148959 byFrequency TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr8:73849756T>C ENST00000523207.1 + 3 2754 c.2166T>C c.(2164-2166)aaT>aaC p.N722N NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 722 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TTAAGGAAAATAGAGGCAGTG 0.537000 64 54 0 0 1 0 0 CASP2 835 broad.mit.edu 37 7 142985599 142985599 + Silent SNP G G T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr7:142985599G>T ENST00000310447.5 + 1 292 c.51G>T c.(49-51)ctG>ctT p.L17L CASP2_ENST00000392925.2_Silent_p.L17L NM_032982.3|NM_032983.3 NP_116764.2|NP_116765.2 P42575 CASP2_HUMAN caspase 2, apoptosis-related cysteine peptidase 17 apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage cytosol cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(164;0.059) ACAAGGAGCTGATGGCCGCTG 0.682000 4 14 0.00198382 0.00202758 1 1 0 KIAA1109 84162 broad.mit.edu 37 4 123161005 123161005 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr4:123161005G>A ENST00000264501.4 + 29 4541 c.4168G>A c.(4168-4170)Gat>Aat p.D1390N KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.D1390N|KIAA1109_ENST00000388738.3_Missense_Mutation_p.D1390N Q2LD37 K1109_HUMAN KIAA1109 1390 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GTCAATGGCTGATAGTGAAGC 0.418000 19 33 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29162843 29162843 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:29162843G>A ENST00000321990.4 + 2 2122 c.1744G>A c.(1744-1746)Gaa>Aaa p.E582K CTD-2349P21.11_ENST00000580873.1_RNA NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 582 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AGCTGAATCTGAAGCCAGCTT 0.378000 15 55 0 0 1 0 0 KCNJ2 3759 broad.mit.edu 37 17 68171221 68171221 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:68171221C>T ENST00000243457.3 + 2 424 c.41C>T c.(40-42)tCa>tTa p.S14L KCNJ2_ENST00000535240.1_Missense_Mutation_p.S14L NM_000891.2 NP_000882.1 P63252 IRK2_HUMAN potassium inwardly-rectifying channel, subfamily J, member 2 14 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1) 25 Breast(10;1.64e-08) ATCGTCTCTTCAGAAGAAGAC 0.517000 19 22 0 0 1 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935357 151935357 + Silent SNP T T C rs35014597 byFrequency TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chrX:151935357T>C ENST00000393902.3 - 3 1377 c.810A>G c.(808-810)gaA>gaG p.E270E MAGEA3_ENST00000370278.3_Silent_p.E270E P43357 MAGA3_HUMAN melanoma antigen family A, 3 270 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) CCCACAGGAATTCATAACATG 0.532000 4 145 0 0 1 0 0 NPY2R 4887 broad.mit.edu 37 4 156135697 156135697 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr4:156135697C>T ENST00000329476.3 + 2 1095 c.606C>T c.(604-606)gcC>gcT p.A202A NPY2R_ENST00000506608.1_Silent_p.A202A NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 202 A -> P (in Ref. 4; AAB07760). cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) AGATTGTGGCCTGTACTGAAA 0.507000 8 129 0 0 1 0 0 WFS1 7466 broad.mit.edu 37 4 6302887 6302887 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr4:6302887G>A ENST00000226760.1 + 8 1535 c.1365G>A c.(1363-1365)acG>acA p.T455T WFS1_ENST00000503569.1_Silent_p.T455T NM_001145853.1|NM_006005.3 NP_001139325.1|NP_005996.2 O76024 WFS1_HUMAN Wolfram syndrome 1 (wolframin) 455 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) AGCCCTACACGCGCAGGGCCC 0.637000 22 55 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106960946 106960946 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:106960946G>A ENST00000369701.3 + 16 2423 c.2196G>A c.(2194-2196)ctG>ctA p.L732L SORCS3_ENST00000369699.4_Silent_p.L18L NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 732 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AGTGTGCCCTGGGCCGAGACC 0.488000 22 45 0 0 1 0 0 FYN 2534 broad.mit.edu 37 6 111983077 111983077 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:111983077G>A ENST00000354650.3 - 14 2085 c.1479C>T c.(1477-1479)atC>atT p.I493I FYN_ENST00000356013.2_Silent_p.I438I|FYN_ENST00000538466.1_Silent_p.I490I|FYN_ENST00000229470.5_Silent_p.I441I|FYN_ENST00000229471.4_Silent_p.I438I|FYN_ENST00000368678.4_Silent_p.I490I|FYN_ENST00000368682.3_Silent_p.I490I|FYN_ENST00000368667.2_Silent_p.I493I NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 493 Protein kinase. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) CATGCAGAGAGATGGGGCAGT 0.567000 82 47 0 0 1 0 0 GPN2 54707 broad.mit.edu 37 1 27216470 27216470 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:27216470C>T ENST00000374135.4 - 1 318 c.118G>A c.(118-120)Gtg>Atg p.V40M NM_018066.3 NP_060536.3 Q9H9Y4 GPN2_HUMAN GPN-loop GTPase 2 40 GTP binding endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 ACCACCGCCACGCGCCGGCCC 0.721000 3 12 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46787591 46787591 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr22:46787591G>A ENST00000262738.3 - 15 6086 c.6087C>T c.(6085-6087)atC>atT p.I2029I NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2029 Laminin EGF-like. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) ACTGGCGGCCGATGACGCCGG 0.682000 4 21 0 0 1 0 0 FOXA2 3170 broad.mit.edu 37 20 22563496 22563496 + Silent SNP G G T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr20:22563496G>T ENST00000419308.2 - 2 568 c.384C>A c.(382-384)ggC>ggA p.G128G FOXA2_ENST00000377115.4_Silent_p.G122G NM_021784.4 NP_068556.2 Q9Y261 FOXA2_HUMAN forkhead box A2 128 cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region 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 breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1) 22 Lung NSC(19;0.188) GGGCCAGGCCGCCCATGGCCC 0.756000 4 19 0.00024832 0.000256628 1 1 0 SCAF8 22828 broad.mit.edu 37 6 155154524 155154524 + Missense_Mutation SNP A A G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:155154524A>G ENST00000367178.3 + 20 4387 c.3811A>G c.(3811-3813)Aca>Gca p.T1271A SCAF8_ENST00000417268.1_Missense_Mutation_p.T1271A|SCAF8_ENST00000367186.4_Missense_Mutation_p.T1337A|TIAM2_ENST00000461783.3_5'UTR NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 1271 mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 AACTGAGGGGACATAATCATC 0.373000 35 22 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7722612 7722612 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:7722612C>T ENST00000572933.1 + 72 12361 c.10901C>T c.(10900-10902)tCa>tTa p.S3634L DNAH2_ENST00000389173.2_Missense_Mutation_p.S3634L Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3634 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TACCAGTTCTCACTGGATGCC 0.542000 14 47 0 0 1 0 0 KRTAP10-3 386682 broad.mit.edu 37 21 45978005 45978005 + Silent SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr21:45978005G>C ENST00000391620.1 - 1 638 c.594C>G c.(592-594)ctC>ctG p.L198L TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron NM_198696.2 NP_941969.2 P60369 KR103_HUMAN keratin associated protein 10-3 198 18 X 5 AA repeats of C-C-X(3). keratin filament kidney(1)|lung(4)|prostate(1)|skin(1) 7 TGGGGCGGCAGAGGAGGGACA 0.692000 7 32 0 0 1 0 0 SPACA3 124912 broad.mit.edu 37 17 31322626 31322626 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:31322626C>T ENST00000580599.1 + 3 436 c.27C>T c.(25-27)ctC>ctT p.L9L SPACA3_ENST00000269053.3_Silent_p.L78L|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000394638.1_Intron Q8IXA5 SACA3_HUMAN sperm acrosome associated 3 78 cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(9;0.193) TCTGTCTGCTCAGCTGCCTGC 0.622000 17 47 0 0 1 0 0 BTG3 10950 broad.mit.edu 37 21 18977218 18977218 + Nonsense_Mutation SNP C C A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr21:18977218C>A ENST00000339775.6 - 3 424 c.271G>T c.(271-273)Gag>Tag p.E91* BTG3_ENST00000348354.6_Nonsense_Mutation_p.E91* NM_001130914.1 NP_001124386.1 Q14201 BTG3_HUMAN BTG family, member 3 91 negative regulation of cell proliferation|negative regulation of mitotic cell cycle cytoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4) 8 Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971) AGAGTGAGCTCCTTTGGCAAG 0.448000 19 26 2.39187e-15 2.60761e-15 1 1 0 AHNAK2 113146 broad.mit.edu 37 14 105409457 105409457 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:105409457C>T ENST00000333244.5 - 7 12450 c.12331G>A c.(12331-12333)Gat>Aat p.D4111N AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4111 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGCACACCATCCAGCTTTGCT 0.577000 17 332 0 0 1 0 0 NELFB 25920 broad.mit.edu 37 9 140151344 140151344 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr9:140151344G>A ENST00000343053.4 + 4 772 c.435G>A c.(433-435)gtG>gtA p.V145V NM_015456.3 NP_056271.2 negative elongation factor complex member B CCGTGGAGGTGAAGCGGCAGA 0.567000 7 35 0 0 1 0 0 MPP2 4355 broad.mit.edu 37 17 41958843 41958843 + Missense_Mutation SNP C C A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:41958843C>A ENST00000269095.4 - 7 1100 c.796G>T c.(796-798)Gat>Tat p.D266Y MPP2_ENST00000461854.1_Missense_Mutation_p.D290Y|MPP2_ENST00000518766.1_Missense_Mutation_p.D311Y|MPP2_ENST00000520305.1_Missense_Mutation_p.D127Y|MPP2_ENST00000377184.3_Missense_Mutation_p.D283Y|MPP2_ENST00000536246.1_Missense_Mutation_p.D255Y|MPP2_ENST00000523501.1_Missense_Mutation_p.D255Y NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 290 SH3. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) CAGTTGGCATCATCCTGGTTT 0.627000 37 75 1.30916e-28 1.46164e-28 1 1 0 HIST1H2BL 8340 broad.mit.edu 37 6 27775577 27775577 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:27775577C>T ENST00000377401.2 - 1 132 c.108G>A c.(106-108)gaG>gaA p.E36E NM_003519.3 NP_003510.1 Q99880 H2B1L_HUMAN histone cluster 1, H2bl 36 nucleosome assembly nucleosome|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 12 CGGAGTAGCTCTCCTTGCGGC 0.587000 77 191 0 0 1 0 0 GRHL3 57822 broad.mit.edu 37 1 24664503 24664503 + Missense_Mutation SNP G G A rs141594535 TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:24664503G>A ENST00000361548.4 + 7 1092 c.862G>A c.(862-864)Gac>Aac p.D288N GRHL3_ENST00000236255.4_Missense_Mutation_p.D293N|GRHL3_ENST00000342072.4_Missense_Mutation_p.D195N|GRHL3_ENST00000356046.2_Missense_Mutation_p.D242N|GRHL3_ENST00000350501.5_Missense_Mutation_p.D288N NM_198173.2 NP_937816.1 Q8TE85 GRHL3_HUMAN grainyhead-like 3 (Drosophila) 288 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) GGTTGTCTTCGACAATGAGAA 0.572000 35 69 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49435941 49435941 + Nonsense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr12:49435941G>A ENST00000301067.7 - 28 6039 c.6040C>T c.(6040-6042)Cag>Tag p.Q2014* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GTGGACAGCTGGCCCAACTCC 0.577000 11 13 0 0 1 0 0 ZNF335 63925 broad.mit.edu 37 20 44579207 44579207 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr20:44579207G>A ENST00000322927.2 - 21 3317 c.3217C>T c.(3217-3219)Cgg>Tgg p.R1073W ZNF335_ENST00000426788.1_Missense_Mutation_p.R918W NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 1073 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) TGGTGGGGCCGTAGGCTTGAG 0.582000 6 289 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23887583 23887583 + Silent SNP C C T rs144465613 byFrequency TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:23887583C>T ENST00000355349.3 - 30 4167 c.4005G>A c.(4003-4005)tcG>tcA p.S1335S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335S(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCCGGGCCGACTGCAGTG 0.662000 3 57 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36642052 36642052 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr8:36642052C>T ENST00000399881.3 + 1 161 c.124C>T c.(124-126)Ctg>Ttg p.L42L NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 42 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) ACTCATCATCCTGTTGATCTT 0.428000 8 19 0 0 1 0 0 KRT16P2 400578 broad.mit.edu 37 17 16735627 16735627 + RNA SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:16735627C>T ENST00000579062.1 - 0 261 CGGATCTTCACTTCCAGGTCG 0.597000 33 140 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 4 67 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144882724 144882724 + Nonsense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:144882724G>A ENST00000369359.4 - 27 3744 c.3706C>T c.(3706-3708)Cag>Tag p.Q1236* PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.Q1099*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.Q1236*|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.Q1099* Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1099 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AACTCAGCCTGAAGGCTACTC 0.483000 T PDGFRB MPD 38 208 0 0 1 0 0 GABPA 2551 broad.mit.edu 37 21 27130452 27130452 + Missense_Mutation SNP G G T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr21:27130452G>T ENST00000354828.3 + 6 1212 c.685G>T c.(685-687)Gat>Tat p.D229Y GABPA_ENST00000400075.3_Missense_Mutation_p.D229Y NM_001197297.1 NP_001184226.1 Q06546 GABPA_HUMAN GA binding protein transcription factor, alpha subunit 60kDa 229 PNT. positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 24 CAACCAAGAAGATTTTTTTCA 0.398000 16 42 8.10497e-08 8.53478e-08 1 1 0 HORMAD1 84072 broad.mit.edu 37 1 150679139 150679139 + Nonsense_Mutation SNP G G A rs150156011 TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:150679139G>A ENST00000368993.2 - 10 799 c.694C>T c.(694-696)Cga>Tga p.R232* HORMAD1_ENST00000322343.7_Nonsense_Mutation_p.R225*|HORMAD1_ENST00000361824.2_Nonsense_Mutation_p.R232*|HORMAD1_ENST00000368995.4_Nonsense_Mutation_p.R152* Q86X24 HORM1_HUMAN HORMA domain containing 1 232 blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3) 16 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) TTTTCCATTCGTTCTCTCTCA 0.353000 18 64 0 0 1 0 0 RXRG 6258 broad.mit.edu 37 1 165398029 165398029 + Missense_Mutation SNP G G T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:165398029G>T ENST00000359842.5 - 2 526 c.224C>A c.(223-225)tCt>tAt p.S75Y NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma 75 Modulating (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) GCCCATGGCAGAGGTGATGAC 0.602000 18 28 4.63292e-17 5.09072e-17 1 1 0 ATP7B 540 broad.mit.edu 37 13 52544680 52544680 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr13:52544680C>T ENST00000242839.4 - 3 1647 c.1491G>A c.(1489-1491)atG>atA p.M497I ATP7B_ENST00000418097.2_Missense_Mutation_p.M497I|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.M497I|ATP7B_ENST00000542656.1_Missense_Mutation_p.M465I|ATP7B_ENST00000400366.3_Missense_Mutation_p.M386I|ATP7B_ENST00000344297.5_Missense_Mutation_p.M497I NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 497 HMA 5. ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) ATGCACAGGTCATGCCTTTGA 0.502000 Wilson disease 63 106 0 0 1 0 0 WDR11 55717 broad.mit.edu 37 10 122648591 122648591 + Splice_Site SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:122648591G>A ENST00000263461.6 + 17 2369 c.2123G>A c.(2122-2124)gGa>gAa p.G708E WDR11_ENST00000604509.1_3'UTR NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 708 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 GTTTTCTAGGGAAGTATGGGT 0.318000 30 57 0 0 1 0 0 SNX31 169166 broad.mit.edu 37 8 101629926 101629926 + Silent SNP A A G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr8:101629926A>G ENST00000311812.2 - 5 504 c.354T>C c.(352-354)taT>taC p.Y118Y SNX31_ENST00000428383.2_Silent_p.Y19Y NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 118 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) ATATGTCCAGATAAGCTTTCT 0.358000 32 105 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108371675 108371675 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:108371675C>T ENST00000263054.6 - 22 3034 c.3027G>A c.(3025-3027)ctG>ctA p.L1009L SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000369698.1_Silent_p.L544L|SORCS1_ENST00000344440.6_Silent_p.L1009L NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 1009 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TCACTTCCACCAGGGATTTTT 0.483000 6 23 0 0 1 0 0 MOK 5891 broad.mit.edu 37 14 102729905 102729905 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:102729905C>T ENST00000361847.2 - 4 492 c.261G>A c.(259-261)atG>atA p.M87I MOK_ENST00000522874.1_Missense_Mutation_p.M87I|MOK_ENST00000193029.6_5'UTR|MOK_ENST00000524214.1_Missense_Mutation_p.M57I NM_014226.1 NP_055041.1 Q9UQ07 MOK_HUMAN MOK protein kinase 87 Protein kinase. signal transduction Golgi apparatus ATP binding|cyclin-dependent protein kinase activity|protein binding CATAAATATTCATGTCCATAA 0.308000 10 33 0 0 1 0 0 CYP2B6 1555 broad.mit.edu 37 19 41518309 41518309 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:41518309G>C ENST00000324071.4 + 7 1078 c.1071G>C c.(1069-1071)caG>caC p.Q357H CYP2B6_ENST00000330446.5_Missense_Mutation_p.Q157H|CYP2B6_ENST00000593831.1_Missense_Mutation_p.Q121H NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 357 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) ATGAGATTCAGAGATTTTCCG 0.537000 26 45 0 0 1 0 0 MED15 51586 broad.mit.edu 37 22 20909408 20909408 + Missense_Mutation SNP G G T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr22:20909408G>T ENST00000263205.7 + 5 493 c.424G>T c.(424-426)Gct>Tct p.A142S MED15_ENST00000406969.1_Missense_Mutation_p.A116S|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Missense_Mutation_p.A142S|MED15_ENST00000425759.2_Intron|MED15_ENST00000382974.2_Intron|MED15_ENST00000541476.1_Missense_Mutation_p.A116S NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 142 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) TCACAGCATGGCTGTCGTGTC 0.567000 3 6 2.56e-06 2.66547e-06 1 1 0 KMT2C 58508 broad.mit.edu 37 7 151949045 151949045 + Nonsense_Mutation SNP C C A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr7:151949045C>A ENST00000355193.2 - 11 1818 c.1600G>T c.(1600-1602)Gag>Tag p.E534* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.E534* lysine (K)-specific methyltransferase 2C TCAGCTATCTCCACTTCCTCA 0.358000 9 16 2.27111e-07 2.37357e-07 1 1 0 GPALPP1 55425 broad.mit.edu 37 13 45580434 45580434 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr13:45580434C>G ENST00000361121.2 + 3 354 c.319C>G c.(319-321)Cca>Gca p.P107A GPALPP1_ENST00000379151.4_Missense_Mutation_p.P107A|GPALPP1_ENST00000357537.3_5'UTR|RP11-321C24.1_ENST00000437748.2_lincRNA GPALPP motifs containing 1 107 TGATTCTCCTCCAAGGTGATA 0.328000 39 124 0 0 1 0 0 N4BP2 55728 broad.mit.edu 37 4 40104376 40104376 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr4:40104376G>A ENST00000261435.6 + 4 1327 c.911G>A c.(910-912)gGt>gAt p.G304D NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 304 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 GATTTACCAGGTACAGGTGGG 0.473000 22 51 0 0 1 0 0 MSH3 4437 broad.mit.edu 37 5 79950579 79950579 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr5:79950579C>T ENST00000265081.6 + 1 113 c.33C>T c.(31-33)ctC>ctT p.L11L DHFR_ENST00000439211.2_5'UTR NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 11 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) CGGGCGGCCTCGCTGCCTCCA 0.697000 Mismatch excision repair (MMR) 9 25 0 0 1 0 0 ZNF695 57116 broad.mit.edu 37 1 247151490 247151490 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:247151490C>T ENST00000339986.7 - 4 474 c.327G>A c.(325-327)gtG>gtA p.V109V ZNF695_ENST00000498046.2_5'UTR|ZNF695_ENST00000487338.2_Silent_p.V109V NM_020394.4 NP_065127 Q8IW36 ZN695_HUMAN zinc finger protein 695 109 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TTCTCAGCATCACTTTTTGGA 0.373000 27 54 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16180769 16180769 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr16:16180769C>T ENST00000399408.2 + 18 2556 c.2381C>T c.(2380-2382)cCc>cTc p.P794L ABCC1_ENST00000351154.5_Missense_Mutation_p.P735L|ABCC1_ENST00000345148.5_Missense_Mutation_p.P794L|ABCC1_ENST00000346370.5_Intron|ABCC1_ENST00000349029.5_Intron|ABCC1_ENST00000399410.3_Missense_Mutation_p.P794L P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 794 ABC transporter 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TTCGATGATCCCCTCTCAGCA 0.597000 18 59 0 0 1 0 0 CCDC102B 79839 broad.mit.edu 37 18 66504371 66504371 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr18:66504371G>A ENST00000360242.5 + 2 488 c.371G>A c.(370-372)aGa>aAa p.R124K CCDC102B_ENST00000584156.1_Missense_Mutation_p.R124K|CCDC102B_ENST00000319445.6_Missense_Mutation_p.R124K|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Missense_Mutation_p.R124K NM_024781.2 NP_079057 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 124 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) AGACAACTCAGAATAAAACTA 0.458000 18 29 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61566090 61566090 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:61566090G>C ENST00000577647.1 + 5 710 c.665G>C c.(664-666)aGa>aCa p.R222T ACE_ENST00000490216.2_Missense_Mutation_p.R222T|ACE_ENST00000290866.4_Missense_Mutation_p.R796T|ACE_ENST00000428043.1_Missense_Mutation_p.R796T|ACE_ENST00000421982.2_Missense_Mutation_p.R106T|ACE_ENST00000413513.3_Missense_Mutation_p.R222T|ACE_ENST00000290863.6_Missense_Mutation_p.R222T P12821 ACE_HUMAN angiotensin I converting enzyme 796 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) AAGGCGGGGAGAGCCATCCTC 0.562000 30 45 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55494608 55494608 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:55494608C>G ENST00000543010.1 + 6 1685 c.1542C>G c.(1540-1542)ttC>ttG p.F514L NLRP2_ENST00000339757.7_Missense_Mutation_p.F492L|NLRP2_ENST00000391721.4_Missense_Mutation_p.F490L|NLRP2_ENST00000263437.6_Missense_Mutation_p.F511L|NLRP2_ENST00000537859.1_Missense_Mutation_p.F492L|NLRP2_ENST00000427260.2_Missense_Mutation_p.F491L|NLRP2_ENST00000448584.2_Missense_Mutation_p.F514L|NLRP2_ENST00000538819.1_Missense_Mutation_p.F490L NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 514 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CTGCCCTGTTCTACACCCTGG 0.562000 31 49 0 0 1 0 0 TAF7L 54457 broad.mit.edu 37 X 100524223 100524223 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chrX:100524223G>A ENST00000372907.3 - 13 1358 c.1347C>T c.(1345-1347)ctC>ctT p.L449L TAF7L_ENST00000372905.2_Silent_p.L289L|TAF7L_ENST00000356784.1_Silent_p.L363L|TAF7L_ENST00000324762.6_Silent_p.L289L NM_024885.3 NP_079161.3 Q5H9L4 TAF7L_HUMAN TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa 449 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 GTAGGGAAATGAGCTGTAGGG 0.418000 12 61 0 0 1 0 0 PAK3 5063 broad.mit.edu 37 X 110439755 110439755 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chrX:110439755G>A ENST00000372007.5 + 16 1685 c.1294G>A c.(1294-1296)Gag>Aag p.E432K PAK3_ENST00000518291.1_Missense_Mutation_p.E468K|PAK3_ENST00000446737.1_Missense_Mutation_p.E432K|PAK3_ENST00000372010.1_Missense_Mutation_p.E447K|PAK3_ENST00000425146.1_Missense_Mutation_p.E432K|PAK3_ENST00000519681.1_Missense_Mutation_p.E453K|PAK3_ENST00000262836.4_Missense_Mutation_p.E447K|PAK3_ENST00000360648.4_Missense_Mutation_p.E468K|PAK3_ENST00000417227.1_Missense_Mutation_p.E453K NM_002578.3 NP_002569.1 O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 Protein kinase. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 GATGGCACCTGAGGTGGTGAC 0.468000 TSP Lung(19;0.15) 49 57 0 0 1 0 0 SLC7A4 6545 broad.mit.edu 37 22 21384120 21384120 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr22:21384120C>T ENST00000382932.2 - 3 1570 c.1503G>A c.(1501-1503)tcG>tcA p.S501S SLC7A4_ENST00000403586.1_Silent_p.S501S NM_004173.2 NP_004164.2 O43246 CTR4_HUMAN solute carrier family 7, member 4 501 cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2) 18 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) GGTGCAGGGTCGAGTTCCCAA 0.582000 6 25 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 84028123 84028123 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr11:84028123C>G ENST00000280241.8 - 1 65 c.66G>C c.(64-66)agG>agC p.R22S DLG2_ENST00000398301.2_Missense_Mutation_p.R22S|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000376104.2_Intron NM_001206769.1 NP_001193698.1 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 0 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TGGGCGCACTCCTGACGGCAT 0.587000 90 128 0 0 1 0 0 SPRYD3 84926 broad.mit.edu 37 12 53460407 53460407 + Missense_Mutation SNP A A T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr12:53460407A>T ENST00000301463.4 - 9 1057 c.971T>A c.(970-972)aTc>aAc p.I324N SPRYD3_ENST00000547837.1_Missense_Mutation_p.I361N NM_032840.2 NP_116229.1 Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 324 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 ACAGCCCATGATGTCCCCTTT 0.587000 OREG0021856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 19 0 0 1 0 0 CYP4A22 284541 broad.mit.edu 37 1 47603168 47603168 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:47603168C>G ENST00000371891.3 + 1 42 c.11C>G c.(10-12)tCt>tGt p.S4C CYP4A22_ENST00000371890.3_Missense_Mutation_p.S4C|CYP4A22_ENST00000294337.3_Missense_Mutation_p.S4C|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 4 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ATGAGTGTCTCTGTCCTGAGC 0.597000 28 70 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29162605 29162605 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:29162605G>C ENST00000321990.4 + 2 1884 c.1506G>C c.(1504-1506)aaG>aaC p.K502N CTD-2349P21.11_ENST00000580873.1_RNA NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 502 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) ACACTCAAAAGAAAGAAACAA 0.303000 12 33 0 0 1 0 0 DNMT1 1786 broad.mit.edu 37 19 10270402 10270402 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:10270402G>C ENST00000340748.4 - 16 1399 c.1164C>G c.(1162-1164)atC>atG p.I388M DNMT1_ENST00000359526.4_Missense_Mutation_p.I404M|DNMT1_ENST00000540357.1_Missense_Mutation_p.I388M P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 388 DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) TGGCATCAAAGATGGACAGCT 0.537000 18 60 0 0 1 0 0 CELF3 11189 broad.mit.edu 37 1 151678328 151678328 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:151678328C>T ENST00000290583.4 - 11 2033 c.1240G>A c.(1240-1242)Gac>Aac p.D414N RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Missense_Mutation_p.D364N|CELF3_ENST00000392706.3_Missense_Mutation_p.D209N|CELF3_ENST00000470688.1_5'UTR NM_001172648.1|NM_007185.4 NP_001166119.1|NP_009116.3 Q5SZQ8 CELF3_HUMAN CUGBP, Elav-like family member 3 414 RRM 3. nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 21 GTGGCTCGGTCAACAAAGACT 0.438000 13 30 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124382256 124382256 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr8:124382256C>T ENST00000287394.5 - 7 843 c.736G>A c.(736-738)Gaa>Aaa p.E246K ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 246 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TCACCCTCTTCAGATGACTCT 0.373000 45 44 0 0 1 0 0 FAM83G 644815 broad.mit.edu 37 17 18907093 18907093 + Nonsense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:18907093G>A ENST00000388995.6 - 2 485 c.262C>T c.(262-264)Cag>Tag p.Q88* FAM83G_ENST00000585154.2_Nonsense_Mutation_p.Q88*|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Nonsense_Mutation_p.Q88*|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 88 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 TCGGGCCCCTGAGAGGGGCCC 0.701000 4 4 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227924258 227924258 + Nonsense_Mutation SNP G G T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:227924258G>T ENST00000396625.3 - 28 2453 c.2246C>A c.(2245-2247)tCa>tAa p.S749* COL4A4_ENST00000329662.7_Nonsense_Mutation_p.S749* NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 749 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding p.S749L(1) breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CACTCCTGGTGAGCCGGGAGG 0.552000 18 55 2.37509e-13 2.56917e-13 1 1 0 DKK3 27122 broad.mit.edu 37 11 11986170 11986170 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr11:11986170G>A ENST00000396505.2 - 8 1132 c.894C>T c.(892-894)atC>atT p.I298I DKK3_ENST00000527132.1_Intron|DKK3_ENST00000326932.4_Silent_p.I298I|DKK3_ENST00000525493.1_Silent_p.I312I|DKK3_ENST00000450094.2_Silent_p.I270I NM_015881.5 NP_056965.3 Q9UBP4 DKK3_HUMAN dickkopf WNT signaling pathway inhibitor 3 298 adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway extracellular space breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1) 8 Epithelial(150;0.000502) TGGGCAGCAGGATCTCCCCAT 0.597000 19 13 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21731075 21731075 + Missense_Mutation SNP T T G rs111568648 TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:21731075T>G ENST00000584755.1 + 2 774 c.377T>G c.(376-378)cTg>cGg p.L126R UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L126R endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCAAGCAGCTGGAAGATGGC 0.537000 3 60 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109688322 109688322 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr9:109688322C>G ENST00000277225.5 + 3 2418 c.2129C>G c.(2128-2130)aCc>aGc p.T710S ZNF462_ENST00000457913.1_Missense_Mutation_p.T710S Q96JM2 ZN462_HUMAN zinc finger protein 462 710 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 ATTAACCAAACCAAACAGCAG 0.453000 36 70 0 0 1 0 0 MRPL1 65008 broad.mit.edu 37 4 78815330 78815330 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr4:78815330C>G ENST00000315567.8 + 6 925 c.596C>G c.(595-597)gCt>gGt p.A199G MRPL1_ENST00000506674.1_3'UTR NM_020236.3 NP_064621.3 Q9BYD6 RM01_HUMAN mitochondrial ribosomal protein L1 199 RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1) 17 TTTTACGTAGCTGTTCCAGAA 0.308000 37 75 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 33021978 33021978 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr12:33021978C>T ENST00000340811.4 - 4 1161 c.1053G>A c.(1051-1053)atG>atA p.M351I PKP2_ENST00000070846.6_Missense_Mutation_p.M351I NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 351 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) GCTCCAGAGTCATCTCCATGT 0.527000 59 54 0 0 1 0 0 MORC2 22880 broad.mit.edu 37 22 31332626 31332626 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr22:31332626C>G ENST00000397641.3 - 17 2017 c.1609G>C c.(1609-1611)Gag>Cag p.E537Q MORC2_ENST00000215862.4_Missense_Mutation_p.E475Q|MORC2_ENST00000469915.1_5'UTR Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 TCAGAAGCCTCACACCTGTAG 0.493000 40 44 0 0 1 0 0 SRPK2 6733 broad.mit.edu 37 7 104758350 104758350 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr7:104758350C>G ENST00000357311.3 - 15 2173 c.2002G>C c.(2002-2004)Gaa>Caa p.E668Q SRPK2_ENST00000393651.3_Missense_Mutation_p.E679Q|SRPK2_ENST00000489828.1_Missense_Mutation_p.E668Q NM_001278273.1|NM_182691.1 NP_001265202.1|NP_872633.1 P78362 SRPK2_HUMAN SRSF protein kinase 2 668 Protein kinase. angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 GGAACCATTTCTAACATCGGG 0.458000 14 31 0 0 1 0 0 GPR101 83550 broad.mit.edu 37 X 136113744 136113744 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chrX:136113744G>A ENST00000298110.1 - 1 89 c.90C>T c.(88-90)caC>caT p.H30H NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 30 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) GGATGATGCCGTGGGCCAGGC 0.612000 4 90 0 0 1 0 0 A1BG 1 broad.mit.edu 37 19 58863655 58863655 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:58863655C>G ENST00000263100.3 - 4 668 c.607G>C c.(607-609)Gag>Cag p.E203Q A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000594950.1_RNA NM_130786.3 NP_570602.2 P04217 A1BG_HUMAN alpha-1-B glycoprotein 203 Ig-like V-type 2. extracellular region NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2) 15 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) TCACCGAGCTCCTCAATGGTC 0.607000 19 38 0 0 1 0 0 ZBTB24 9841 broad.mit.edu 37 6 109803198 109803198 + Missense_Mutation SNP T T C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:109803198T>C ENST00000230122.3 - 2 199 c.32A>G c.(31-33)cAg>cGg p.Q11R NM_001164313.1|NM_014797.2 NP_001157785.1|NP_055612.2 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 11 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) TACAACAAGCTGCCCAGAAGG 0.443000 29 13 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128477268 128477268 + Missense_Mutation SNP C C A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:128477268C>A ENST00000322313.4 - 16 2489 c.2331G>T c.(2329-2331)atG>atT p.M777I NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 777 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GATTCAATCCCATCAGAGGTC 0.602000 4 9 0.00909568 0.00916159 1 1 0 LRRC2 79442 broad.mit.edu 37 3 46592976 46592976 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr3:46592976C>G ENST00000395905.3 - 2 498 c.106G>C c.(106-108)Gag>Cag p.E36Q LRRC2_ENST00000296144.3_Missense_Mutation_p.E36Q|LRRC2_ENST00000496388.1_Intron NM_024512.4 NP_078788.2 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 36 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 17 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) GCGCTCTTCTCAAGCCTTTCC 0.468000 54 23 0 0 1 0 0 UBXN8 7993 broad.mit.edu 37 8 30620854 30620854 + RNA SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr8:30620854C>T ENST00000519246.1 + 0 834 O00124 UBXN8_HUMAN UBX domain protein 8 single fertilization central_nervous_system(1)|lung(2) 3 TGAAGTCCTACAGCTCACAGG 0.428000 35 28 0 0 1 0 0 TGFBR2 7048 broad.mit.edu 37 3 30713543 30713543 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr3:30713543G>A ENST00000295754.5 + 4 1250 c.868G>A c.(868-870)Gag>Aag p.E290K TGFBR2_ENST00000359013.4_Missense_Mutation_p.E315K NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 290 Protein kinase. activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 TTGGAAGACAGAGAAGGACAT 0.483000 61 15 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140581588 140581588 + Missense_Mutation SNP G G T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr5:140581588G>T ENST00000354757.3 + 1 2241 c.2241G>T c.(2239-2241)caG>caT p.Q747H PCDHB11_ENST00000536699.1_Missense_Mutation_p.Q382H NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 747 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) CCCTTTCCCAGAGCTACCAGT 0.582000 69 93 2.18481e-45 2.4491e-45 1 1 0 CAPN13 92291 broad.mit.edu 37 2 30976054 30976054 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:30976054G>C ENST00000295055.8 - 10 1128 c.952C>G c.(952-954)Caa>Gaa p.Q318E CAPN13_ENST00000534090.2_Missense_Mutation_p.Q318E NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 318 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) TGGAAATCTTGACACGACATC 0.453000 21 45 0 0 1 0 0 KLHL13 90293 broad.mit.edu 37 X 117053581 117053581 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chrX:117053581G>C ENST00000371876.1 - 3 2741 c.320C>G c.(319-321)tCt>tGt p.S107C KLHL13_ENST00000371882.1_Missense_Mutation_p.S107C|KLHL13_ENST00000539496.1_Missense_Mutation_p.S161C|KLHL13_ENST00000541812.1_Missense_Mutation_p.S142C|KLHL13_ENST00000262820.3_Missense_Mutation_p.S158C|KLHL13_ENST00000540167.1_Missense_Mutation_p.S142C|KLHL13_ENST00000469946.1_Missense_Mutation_p.S107C|KLHL13_ENST00000545703.1_Missense_Mutation_p.S116C|KLHL13_ENST00000371878.1_Missense_Mutation_p.S107C Q9P2N7 KLH13_HUMAN kelch-like family member 13 158 BTB. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 CATATTAAGAGAAAGCTTTGC 0.383000 23 43 0 0 1 0 0 ARID4B 51742 broad.mit.edu 37 1 235331917 235331917 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:235331917C>T ENST00000264183.3 - 24 4359 c.3862G>A c.(3862-3864)Gct>Act p.A1288T ARID4B_ENST00000349213.3_Missense_Mutation_p.A1202T|ARID4B_ENST00000366603.2_Missense_Mutation_p.A1288T NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 1288 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) ATAACAGCAGCTGTTATGGAA 0.428000 14 28 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179497730 179497730 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:179497730G>A ENST00000589042.1 - 234 43352 c.43128C>T c.(43126-43128)atC>atT p.I14376I TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.I11808I|TTN_ENST00000359218.5_Silent_p.I5436I|TTN_ENST00000342175.6_Silent_p.I5503I|TTN_ENST00000591111.1_Silent_p.I12735I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.I5311I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12735 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGTTATGAAGGATCAGAATAT 0.408000 20 19 0 0 1 0 0 ARIH2 10425 broad.mit.edu 37 3 49012253 49012253 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr3:49012253C>T ENST00000356401.4 + 10 1231 c.892C>T c.(892-894)Ccc>Tcc p.P298S ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Missense_Mutation_p.P298S NM_006321.2 NP_006312.1 O95376 ARI2_HUMAN ariadne RBR E3 ubiquitin protein ligase 2 298 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) TCCTCAGTGTCCCAAGTGCAA 0.498000 42 8 0 0 1 0 0 RNASE13 440163 broad.mit.edu 37 14 21502251 21502251 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:21502251G>A ENST00000382951.3 - 2 334 c.197C>T c.(196-198)tCa>tTa p.S66L NDRG2_ENST00000403829.3_Intron NM_001012264.3 NP_001012264.1 Q5GAN3 RNS13_HUMAN ribonuclease, RNase A family, 13 (non-active) 66 extracellular region nucleic acid binding|pancreatic ribonuclease activity cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 12 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.019) TGGGCAATCTGAATTTTGCAT 0.428000 44 37 0 0 1 0 0 CNOT6L 246175 broad.mit.edu 37 4 78650191 78650191 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr4:78650191C>T ENST00000504123.1 - 10 1199 c.1069G>A c.(1069-1071)Gca>Aca p.A357T CNOT6L_ENST00000264903.4_Missense_Mutation_p.A357T Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 357 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding p.A357T(1)|p.A386T(1) kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 9 TGGGCATTTGCCACTATAAGC 0.388000 23 61 0 0 1 0 0 MKRN1 23608 broad.mit.edu 37 7 140158900 140158900 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr7:140158900C>T ENST00000255977.2 - 4 902 c.678G>A c.(676-678)gaG>gaA p.E226E MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000443720.2_Silent_p.E226E|MKRN1_ENST00000474576.1_Silent_p.E162E|MKRN1_ENST00000437223.2_Intron NM_013446.3 NP_038474.2 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 226 ligase activity|nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 16 Melanoma(164;0.00956) ACACACAGTTCTCCCCGTATC 0.532000 43 97 0 0 1 0 0 GDF2 2658 broad.mit.edu 37 10 48414156 48414156 + Missense_Mutation SNP C C T rs137873272 TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:48414156C>T ENST00000249598.1 - 2 871 c.712G>A c.(712-714)Gac>Aac p.D238N NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 238 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 TCCAGCGTGTCGCAGCCCTTC 0.577000 14 21 0 0 1 0 0 ZFP42 132625 broad.mit.edu 37 4 188924685 188924685 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr4:188924685G>A ENST00000326866.4 + 4 1132 c.724G>A c.(724-726)Gag>Aag p.E242K ZFP42_ENST00000509524.1_Missense_Mutation_p.E242K NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 242 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) TCATACTGGAGAGAAGCCGTT 0.512000 15 27 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65141908 65141908 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:65141908C>T ENST00000358691.5 - 21 2886 c.2720G>A c.(2719-2721)gGa>gAa p.G907E HELZ_ENST00000580168.1_Missense_Mutation_p.G908E NM_014877.3 NP_055692 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TACATCTTCTCCTCGTGCTGT 0.378000 8 38 0 0 1 0 0 KIF26A 26153 broad.mit.edu 37 14 104640516 104640516 + Missense_Mutation SNP T T A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:104640516T>A ENST00000315264.7 + 10 2023 c.1645T>A c.(1645-1647)Tcc>Acc p.S549T KIF26A_ENST00000423312.2_Missense_Mutation_p.S688T Q9ULI4 KI26A_HUMAN kinesin family member 26A 688 Kinesin-motor. blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) GCTGCGTGAATCCCTGGCCAC 0.687000 3 7 0 0 1 0 0 CYP46A1 10858 broad.mit.edu 37 14 100166436 100166436 + Silent SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:100166436G>C ENST00000261835.3 + 5 545 c.441G>C c.(439-441)cgG>cgC p.R147R CYP46A1_ENST00000423126.2_Silent_p.R50R NM_006668.1 NP_006659.1 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46, subfamily A, polypeptide 1 147 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1) 25 Melanoma(154;0.0866)|all_epithelial(191;0.179) CCTTCAGCCGGAGGTGAGTGT 0.622000 5 24 0 0 1 0 0 FAM102A 399665 broad.mit.edu 37 9 130742369 130742369 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr9:130742369G>A ENST00000373095.1 - 1 423 c.48C>T c.(46-48)ttC>ttT p.F16F NM_001035254.2 NP_001030331.1 Q5T9C2 F102A_HUMAN family with sequence similarity 102, member A 16 breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4) 10 CCTCCAGGGTGAAAGTAGTTT 0.522000 51 107 0 0 1 0 0 ZNF737 100129842 broad.mit.edu 37 19 20727612 20727612 + Nonsense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:20727612G>C ENST00000427401.4 - 4 1491 c.1397C>G c.(1396-1398)tCa>tGa p.S466* NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 466 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 AGTAAGGTGTGAGGACGAGTT 0.413000 31 54 0 0 1 0 0 PRSS16 10279 broad.mit.edu 37 6 27219016 27219016 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:27219016G>A ENST00000230582.3 + 7 705 c.690G>A c.(688-690)atG>atA p.M230I PRSS16_ENST00000421826.2_Intron NM_005865.3 NP_005856.1 Q9NQE7 TSSP_HUMAN protease, serine, 16 (thymus) 230 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 GAAGCCTAATGAGCACCGCGA 0.672000 29 28 0 0 1 0 0 ZNF491 126069 broad.mit.edu 37 19 11916930 11916930 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:11916930G>C ENST00000323169.5 + 3 493 c.162G>C c.(160-162)agG>agC p.R54S ZNF491_ENST00000492230.1_Intron NM_152356.3 NP_689569.2 Q8N8L2 ZN491_HUMAN zinc finger protein 491 54 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1) 26 CCTTTAATAGGAACATCAGAA 0.393000 16 31 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 54003115 54003115 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr15:54003115C>T ENST00000396328.1 - 9 1132 c.893G>A c.(892-894)aGa>aAa p.R298K WDR72_ENST00000559418.1_Missense_Mutation_p.R310K|WDR72_ENST00000557913.1_Missense_Mutation_p.R297K|WDR72_ENST00000360509.5_Missense_Mutation_p.R298K NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 298 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) TTTAAGCACTCTTCCATCAGC 0.388000 26 30 0 0 1 0 0 SMC3 9126 broad.mit.edu 37 10 112349666 112349666 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:112349666G>A ENST00000361804.4 + 15 1552 c.1426G>A c.(1426-1428)Gag>Aag p.E476K NM_005445.3 NP_005436.1 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 476 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) GTGGAGAGAAGAGAATGCAGA 0.358000 22 41 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3294272 3294272 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr16:3294272C>T ENST00000219596.1 - 8 1780 c.1741G>A c.(1741-1743)Gaa>Aaa p.E581K MEFV_ENST00000541159.1_Missense_Mutation_p.E370K|MEFV_ENST00000339854.4_Missense_Mutation_p.E401K|MEFV_ENST00000536379.1_Missense_Mutation_p.E370K NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 581 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) ATTTCCATTTCTGAACGCAGG 0.522000 24 26 0 0 1 0 0 DBN1 1627 broad.mit.edu 37 5 176895189 176895189 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr5:176895189C>G ENST00000292385.5 - 4 790 c.181G>C c.(181-183)Gag>Cag p.E61Q DBN1_ENST00000393565.1_Missense_Mutation_p.E59Q|DBN1_ENST00000309007.5_Missense_Mutation_p.E59Q NM_080881.2 NP_543157 Q16643 DREB_HUMAN drebrin 1 59 ADF-H. actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity actomyosin|cytoplasm|dendrite actin binding|profilin binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2) 25 all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTCTGGTTCTCAAAGTGTCCC 0.552000 107 118 0 0 1 0 0 VIPR2 7434 broad.mit.edu 37 7 158827298 158827298 + Nonsense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr7:158827298G>A ENST00000262178.2 - 9 1038 c.853C>T c.(853-855)Cga>Tga p.R285* VIPR2_ENST00000377633.3_Nonsense_Mutation_p.R269*|VIPR2_ENST00000402066.1_Nonsense_Mutation_p.R426* NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 285 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) ATCGGTATTCGTATGACCCAC 0.478000 18 47 0 0 1 0 0 AIMP1 9255 broad.mit.edu 37 4 107268795 107268795 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr4:107268795G>A ENST00000394701.4 + 7 998 c.957G>A c.(955-957)gtG>gtA p.V319V AIMP1_ENST00000442366.1_Silent_p.V295V|AIMP1_ENST00000358008.3_Silent_p.V295V NM_001142416.1 NP_001135888.1 Q12904 AIMP1_HUMAN aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 295 angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1) 11 CCTTTGAGGTGAAAGGGAAGG 0.413000 4 44 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179432361 179432361 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:179432361C>G ENST00000589042.1 - 326 78722 c.78498G>C c.(78496-78498)aaG>aaC p.K26166N TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K23598N|TTN_ENST00000359218.5_Missense_Mutation_p.K17226N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K17293N|TTN_ENST00000591111.1_Missense_Mutation_p.K24525N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K17101N|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24525 Fibronectin type-III 90. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGCTGCATTCTTTGCAATGA 0.388000 16 44 0 0 1 0 0 RASA3 22821 broad.mit.edu 37 13 114758015 114758015 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr13:114758015C>T ENST00000334062.7 - 22 2312 c.2191G>A c.(2191-2193)Gag>Aag p.E731K RASA3_ENST00000389544.4_Missense_Mutation_p.E699K NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 731 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) TAGATACGCTCCGTCTCACGG 0.527000 15 39 0 0 1 0 0 NTSR2 23620 broad.mit.edu 37 2 11802346 11802346 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:11802346G>A ENST00000306928.5 - 2 679 c.645C>T c.(643-645)ttC>ttT p.F215F NM_012344.3 NP_036476 O95665 NTR2_HUMAN neurotensin receptor 2 215 sensory perception integral to plasma membrane breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) AGGGGAGCACGAAGGACACCA 0.642000 8 141 0 0 1 0 0 ULK4 54986 broad.mit.edu 37 3 41746766 41746766 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr3:41746766G>A ENST00000301831.4 - 26 3128 c.2666C>T c.(2665-2667)aCg>aTg p.T889M NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 889 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) ATCTATGTTCGTTTCTCCTGA 0.294000 40 10 0 0 1 0 0 CCDC18 343099 broad.mit.edu 37 1 93680450 93680450 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:93680450G>C ENST00000343253.7 + 12 2145 c.1643G>C c.(1642-1644)aGa>aCa p.R548T CCDC18_ENST00000557479.1_Missense_Mutation_p.R667T|CCDC18_ENST00000401026.3_Missense_Mutation_p.R549T|CCDC18_ENST00000338949.4_Missense_Mutation_p.R348T|CCDC18_ENST00000334652.5_5'UTR Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 548 breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) ATGGCTCACAGAACTAGTCAG 0.383000 8 14 0 0 1 0 0 NRDE2 55051 broad.mit.edu 37 14 90778760 90778760 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:90778760G>C ENST00000354366.3 - 4 767 c.535C>G c.(535-537)Ctc>Gtc p.L179V NRDE2_ENST00000357904.3_5'UTR NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing CCTCGGTAGAGAGACTTGTAC 0.478000 31 82 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34208906 34208906 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:34208906C>T ENST00000373381.4 - 14 2324 c.2148G>A c.(2146-2148)aaG>aaA p.K716K NM_001281956.1|NM_052896.3 NP_001268885.1|NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 676 Sushi 4. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGAAGCCCCTCTTCCCTGTGG 0.582000 5 20 0 0 1 0 0 SERPINF1 5176 broad.mit.edu 37 17 1675193 1675193 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:1675193C>T ENST00000254722.4 + 5 630 c.467C>T c.(466-468)gCa>gTa p.A156V SERPINF1_ENST00000571870.1_3'UTR NM_002615.5 NP_002606.3 P36955 PEDF_HUMAN serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 156 cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis extracellular space|melanosome serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 16 AGCTTTGTGGCACCTCTGGAA 0.557000 9 19 0 0 1 0 0 BECN1 8678 broad.mit.edu 37 17 40963765 40963765 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:40963765C>G ENST00000361523.4 - 11 1224 c.1092G>C c.(1090-1092)aaG>aaC p.K364N BECN1_ENST00000438274.3_Intron|BECN1_ENST00000590099.1_Missense_Mutation_p.K364N NM_003766.3 NP_003757.1 Q14457 BECN1_HUMAN beclin 1, autophagy related 364 anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus membrane protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 13 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) CATGGTCAAACTTGTTGTCCC 0.493000 29 64 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134750515 134750515 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:134750515C>G ENST00000368586.5 - 7 805 c.705G>C c.(703-705)aaG>aaC p.K235N TTC40_ENST00000368585.3_Missense_Mutation_p.K235N|TTC40_ENST00000368582.2_Missense_Mutation_p.K235N NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 0 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 TGGAATTTTTCTTTTCTTCCT 0.378000 4 13 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71445358 71445358 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:71445358C>T ENST00000304743.2 + 6 2750 c.2304C>T c.(2302-2304)gtC>gtT p.V768V PCNX_ENST00000439984.3_Silent_p.V768V|PCNX_ENST00000238570.5_Silent_p.V768V NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 768 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) AAGATGCAGTCAGTGGAGGTA 0.393000 35 45 0 0 1 0 0 KCNIP1 30820 broad.mit.edu 37 5 170145787 170145787 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr5:170145787G>A ENST00000328939.4 + 2 624 c.87G>A c.(85-87)atG>atA p.M29I KCNIP1_ENST00000411494.1_Missense_Mutation_p.M40I|KCNIP1_ENST00000520740.1_Start_Codon_SNP_p.M1I|KCNIP1_ENST00000377360.4_Missense_Mutation_p.M38I|KCNIP1_ENST00000434108.1_Missense_Mutation_p.M29I|KCNIP1_ENST00000390656.4_Missense_Mutation_p.M29I NM_001034837.1|NM_014592.2 NP_001030009.1|NP_055407.1 Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 40 detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGCTGGAGATGACCATGGTTT 0.512000 13 23 0 0 1 0 0 AGPAT3 56894 broad.mit.edu 37 21 45387862 45387862 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr21:45387862G>C ENST00000398063.2 + 3 706 c.214G>C c.(214-216)Gag>Cag p.E72Q AGPAT3_ENST00000546158.1_Missense_Mutation_p.E72Q|AGPAT3_ENST00000291572.8_Missense_Mutation_p.E72Q|AGPAT3_ENST00000398058.1_Missense_Mutation_p.E72Q|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000327505.2_Missense_Mutation_p.E72Q|AGPAT3_ENST00000398061.1_Missense_Mutation_p.E72Q NM_001037553.1 NP_001032642.1 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 72 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) GTCCTGCACGGAGTGTACACT 0.612000 8 26 0 0 1 0 0 HIST4H4 121504 broad.mit.edu 37 12 14923749 14923749 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr12:14923749C>T ENST00000539745.1 - 1 316 c.270G>A c.(268-270)gcG>gcA p.A90A NM_175054.2 NP_778224.1 P62805 H4_HUMAN histone cluster 4, H4 90 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2) 6 GGCGTTTCAGCGCGTACACCA 0.582000 OREG0021698 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 52 46 0 0 1 0 0 ZFP57 346171 broad.mit.edu 37 6 29640988 29640988 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:29640988G>A ENST00000376883.1 - 6 1251 c.840C>T c.(838-840)acC>acT p.T280T ZFP57_ENST00000376881.3_Silent_p.T280T|ZFP57_ENST00000488757.1_Silent_p.T300T Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 216 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 ATTCAGCCTGGGTGCCTGGAA 0.557000 103 23 0 0 1 0 0 ASB4 51666 broad.mit.edu 37 7 95165794 95165794 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr7:95165794G>A ENST00000325885.5 + 4 1095 c.1024G>A c.(1024-1026)Gtc>Atc p.V342I NM_016116.2 NP_057200.1 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box containing 4 342 intracellular signal transduction central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) TGAAGTTGTAGTCAATGCCTA 0.408000 13 43 0 0 1 0 0 GPC6 10082 broad.mit.edu 37 13 94958333 94958333 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr13:94958333G>C ENST00000377047.4 + 6 1723 c.1108G>C c.(1108-1110)Gag>Cag p.E370Q NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 370 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) CTACAATCCTGAGGAAAGACC 0.502000 19 34 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54895611 54895611 + Missense_Mutation SNP G G C rs150630405 byFrequency TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:54895611G>C ENST00000356805.4 + 36 7281 c.7000G>C c.(7000-7002)Gtc>Ctc p.V2334L NM_003128.2 NP_003119.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 2334 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) CACCAGCGTCGTCACCATCAC 0.567000 24 28 0 0 1 0 0 FGF8 2253 broad.mit.edu 37 10 103534601 103534601 + Silent SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:103534601G>C ENST00000347978.2 - 3 307 c.138C>G c.(136-138)ctC>ctG p.L46L FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000346714.3_Silent_p.L35L|FGF8_ENST00000320185.2_Silent_p.L75L|FGF8_ENST00000344255.3_Silent_p.L64L NM_006119.4 NP_006110.1 P55075 FGF8_HUMAN fibroblast growth factor 8 (androgen-induced) 64 bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation extracellular region|extracellular space growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2) 5 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) GGCGGCGGCTGAGCTGATCCG 0.542000 10 19 0 0 1 0 0 IL6 3569 broad.mit.edu 37 7 22768323 22768323 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr7:22768323G>C ENST00000404625.1 + 4 681 c.222G>C c.(220-222)aaG>aaC p.K74N IL6_ENST00000258743.5_Missense_Mutation_p.K74N|IL6_ENST00000406575.1_Missense_Mutation_p.K74N|IL6_ENST00000407492.1_5'UTR|IL6_ENST00000401651.1_5'UTR|IL6_ENST00000420258.2_Missense_Mutation_p.K128N|IL6_ENST00000401630.3_Missense_Mutation_p.K51N P05231 IL6_HUMAN interleukin 6 (interferon, beta 2) 74 acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan extracellular space|interleukin-6 receptor complex cytokine activity|growth factor activity|interleukin-6 receptor binding breast(1)|endometrium(2)|large_intestine(4)|lung(1) 8 Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641) CATGTAACAAGAGTAACATGT 0.428000 5 59 0 0 1 0 0 MTF1 4520 broad.mit.edu 37 1 38289456 38289456 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:38289456G>A ENST00000373036.4 - 8 1237 c.1097C>T c.(1096-1098)tCa>tTa p.S366L NM_005955.2 NP_005946.2 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 366 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) GATTGCTGGTGAAATTGTGCT 0.438000 18 34 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70446167 70446167 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:70446167G>A ENST00000373644.4 + 11 5316 c.5107G>A c.(5107-5109)Gag>Aag p.E1703K NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 1703 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 TCCTCAAGATGAGCAGCTCCA 0.453000 22 53 0 0 1 0 0 TRAF3 7187 broad.mit.edu 37 14 103369714 103369714 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:103369714G>A ENST00000560371.1 + 10 1300 c.1083G>A c.(1081-1083)gtG>gtA p.V361V TRAF3_ENST00000539721.1_Silent_p.V278V|TRAF3_ENST00000392745.2_Silent_p.V361V|TRAF3_ENST00000351691.5_Silent_p.V336V|TRAF3_ENST00000347662.4_Silent_p.V336V NM_003300.3|NM_145725.2 NP_003291.2|NP_663777.1 Q13114 TRAF3_HUMAN TNF receptor-associated factor 3 361 apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2) 30 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) AGAACCGCGTGACCGAGCTGG 0.652000 37 45 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160500774 160500774 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:160500774G>C ENST00000356956.1 + 38 5789 c.5641G>C c.(5641-5643)Gaa>Caa p.E1881Q NM_000876.2 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1881 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) GCACCAGGATGAAGCGGTCGT 0.458000 29 18 0 0 1 0 0 KLHDC4 54758 broad.mit.edu 37 16 87760397 87760397 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr16:87760397C>T ENST00000270583.5 - 7 791 c.733G>A c.(733-735)Gtc>Atc p.V245I KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.V188I|KLHDC4_ENST00000347925.5_Missense_Mutation_p.V214I NM_017566.3 NP_060036.2 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 245 breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 21 BRCA - Breast invasive adenocarcinoma(80;0.0283) CCATAGACGACGATGCCGCCC 0.652000 15 30 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152737694 152737694 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:152737694C>G ENST00000367255.5 - 41 6479 c.5878G>C c.(5878-5880)Gag>Cag p.E1960Q SYNE1_ENST00000341594.5_Missense_Mutation_p.E1997Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1967Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1967Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1960Q NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1960 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGGATCCTCTCTACCTCTCCA 0.502000 HNSCC(10;0.0054) 6 95 0 0 1 0 0 COG5 10466 broad.mit.edu 37 7 106938761 106938761 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr7:106938761C>T ENST00000393603.2 - 12 1503 c.1232G>A c.(1231-1233)gGa>gAa p.G411E COG5_ENST00000347053.3_Missense_Mutation_p.G411E|COG5_ENST00000297135.3_Missense_Mutation_p.G411E NM_001161520.1 NP_001154992.1 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 411 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 AGGGTATTCTCCTTCAAATGC 0.323000 11 26 0 0 1 0 0 TRIM23 373 broad.mit.edu 37 5 64892995 64892995 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr5:64892995G>C ENST00000231524.9 - 8 1563 c.1192C>G c.(1192-1194)Cac>Gac p.H398D TRIM23_ENST00000381018.3_Missense_Mutation_p.H398D|TRIM23_ENST00000274327.7_Missense_Mutation_p.H398D NM_001656.3 NP_001647.1 P36406 TRI23_HUMAN tripartite motif containing 23 398 ARF-like. interspecies interaction between organisms|small GTPase mediated signal transduction Golgi membrane|lysosomal membrane enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 28 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) GGTCCAATGTGAACTCGATTA 0.318000 49 57 0 0 1 0 0 RHPN1 114822 broad.mit.edu 37 8 144457813 144457813 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr8:144457813C>T ENST00000289013.6 + 2 252 c.151C>T c.(151-153)Cgg>Tgg p.R51W NM_052924.2 NP_443156.2 Q8TCX5 RHPN1_HUMAN rhophilin, Rho GTPase binding protein 1 51 signal transduction intracellular endometrium(1)|large_intestine(1)|lung(7) 9 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) GCTGCAGATGCGGACGGGCGC 0.672000 24 20 0 0 1 0 0 JAG1 182 broad.mit.edu 37 20 10621880 10621880 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr20:10621880C>G ENST00000254958.5 - 24 3444 c.2929G>C c.(2929-2931)Gag>Cag p.E977Q JAG1_ENST00000423891.2_Missense_Mutation_p.E818Q NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 977 angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 CAAATGTGCTCCGTAGTAAGA 0.408000 Alagille Syndrome 4 62 0 0 1 0 0 MICALL2 79778 broad.mit.edu 37 7 1481960 1481960 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr7:1481960G>C ENST00000297508.7 - 7 1754 c.1579C>G c.(1579-1581)Cag>Gag p.Q527E MICALL2_ENST00000405088.4_Missense_Mutation_p.Q315E NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 527 cytoplasm|cytoskeleton zinc ion binding p.Q527E(1) breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) GCGGATGCCTGAGAGGTACTG 0.667000 50 92 0 0 1 0 0 HKDC1 80201 broad.mit.edu 37 10 71008378 71008378 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:71008378G>A ENST00000354624.5 + 10 1597 c.1464G>A c.(1462-1464)caG>caA p.Q488Q HKDC1_ENST00000395086.2_Silent_p.Q488Q|HKDC1_ENST00000488706.1_3'UTR NM_025130.3 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 488 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 TGGACGTGCAGGCCAAGATGC 0.667000 9 15 0 0 1 0 0 TUBG1 7283 broad.mit.edu 37 17 40762134 40762134 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:40762134G>C ENST00000251413.3 + 2 120 c.58G>C c.(58-60)Gag>Cag p.E20Q FAM134C_ENST00000585894.1_Intron NM_001070.4 NP_001061.2 P23258 TBG1_HUMAN tubulin, gamma 1 20 G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.129) AGTTGGGTTCGAGTTCTGGAA 0.627000 30 59 0 0 1 0 0 DENND2A 27147 broad.mit.edu 37 7 140273705 140273705 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr7:140273705G>A ENST00000275884.6 - 5 1766 c.1349C>T c.(1348-1350)tCc>tTc p.S450F DENND2A_ENST00000496613.1_Missense_Mutation_p.S450F|DENND2A_ENST00000537639.1_Missense_Mutation_p.S450F|DENND2A_ENST00000492720.1_Missense_Mutation_p.S450F Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 450 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) GCTGATTTTGGAAGGGGACCC 0.498000 42 109 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 114185980 114185980 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr8:114185980G>A ENST00000297405.5 - 4 924 c.680C>T c.(679-681)tCg>tTg p.S227L CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Missense_Mutation_p.S227L|CSMD3_ENST00000455883.2_Missense_Mutation_p.S227L|CSMD3_ENST00000343508.3_Missense_Mutation_p.S187L NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 227 Sushi 1. 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 AAAATCCCACGAAGCTGTATT 0.433000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 41 138 0 0 1 0 0 CLEC4A 50856 broad.mit.edu 37 12 8290794 8290794 + Missense_Mutation SNP C C A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr12:8290794C>A ENST00000229332.5 + 6 872 c.625C>A c.(625-627)Cgt>Agt p.R209S CLEC4A_ENST00000345999.3_Missense_Mutation_p.R137S|CLEC4A_ENST00000352620.3_Missense_Mutation_p.R176S|CLEC4A_ENST00000360500.3_Missense_Mutation_p.R170S NM_016184.3|NM_194447.2|NM_194450.2 NP_057268.1|NP_919429.2|NP_919432.1 Q9UMR7 CLC4A_HUMAN C-type lectin domain family 4, member A 209 C-type lectin. cell adhesion|cell surface receptor linked signaling pathway|innate immune response integral to plasma membrane sugar binding|transmembrane receptor activity cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1) 11 Kidney(36;0.0915) GCTAAATTTTCGTAAATCACC 0.438000 3 88 0.150653 0.151197 1 1 0 C19orf55 148137 broad.mit.edu 37 19 36259446 36259446 + Nonstop_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:36259446G>C ENST00000396908.4 + 12 1512 c.1439G>C c.(1438-1440)tGa>tCa p.*480S C19orf55_ENST00000544099.1_3'UTR|C19orf55_ENST00000536037.1_3'UTR NM_001039887.2 NP_001034976.2 Q2NL68 CS055_HUMAN chromosome 19 open reading frame 55 0 cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGAAGACTTTGAATTGTACAG 0.498000 29 43 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230723895 230723895 + Nonsense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:230723895G>C ENST00000283943.5 - 3 672 c.494C>G c.(493-495)tCa>tGa p.S165* TRIP12_ENST00000389044.4_Nonsense_Mutation_p.S207*|TRIP12_ENST00000543084.1_Nonsense_Mutation_p.S207*|TRIP12_ENST00000409677.1_Nonsense_Mutation_p.S207*|TRIP12_ENST00000389045.3_Intron NM_001284214.1|NM_004238.1 NP_001271143.1|NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 165 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TGCACCAGTTGATTCAGACCC 0.502000 20 11 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39266378 39266378 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr13:39266378G>A ENST00000280481.7 + 1 5113 c.4897G>A c.(4897-4899)Gat>Aat p.D1633N NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1633 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TGTTTTTCCTGATACGGTGTT 0.458000 16 42 0 0 1 0 0 AGPAT2 10555 broad.mit.edu 37 9 139571568 139571568 + Nonsense_Mutation SNP C C A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr9:139571568C>A ENST00000371696.2 - 3 402 c.337G>T c.(337-339)Gag>Tag p.E113* AGPAT2_ENST00000371694.3_Nonsense_Mutation_p.E113*|AGPAT2_ENST00000538402.1_Nonsense_Mutation_p.E113* NM_006412.3 NP_006403.2 O15120 PLCB_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 2 113 phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity endometrium(1)|large_intestine(1)|lung(2)|prostate(2) 6 all_cancers(76;0.0893)|all_epithelial(76;0.231) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) ACGCAGCGCTCCGGAAGGACC 0.647000 9 22 0.00621372 0.00630443 1 1 0 MOGS 7841 broad.mit.edu 37 2 74691751 74691751 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:74691751G>A ENST00000233616.4 - 2 613 c.451C>T c.(451-453)Cac>Tac p.H151Y MOGS_ENST00000409065.1_Missense_Mutation_p.H151Y|MOGS_ENST00000452063.2_Missense_Mutation_p.H45Y|MOGS_ENST00000535045.1_Intron|MOGS_ENST00000462443.1_Intron NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 151 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 AGGCCGTCGTGGAACTCCCAG 0.652000 33 55 0 0 1 0 0 CLEC16A 23274 broad.mit.edu 37 16 11076791 11076791 + Silent SNP G G T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr16:11076791G>T ENST00000409790.1 + 10 1244 c.1014G>T c.(1012-1014)ctG>ctT p.L338L CLEC16A_ENST00000409552.3_Silent_p.L336L NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 338 breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 AAGTCATTCTGAATGGTGATC 0.428000 10 39 4.36969e-10 4.67221e-10 1 1 0 SLC43A3 29015 broad.mit.edu 37 11 57188794 57188794 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr11:57188794G>A ENST00000395123.2 - 6 718 c.414C>T c.(412-414)atC>atT p.I138I SLC43A3_ENST00000395124.1_Silent_p.I138I|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Silent_p.I151I|SLC43A3_ENST00000529554.1_Silent_p.I138I|SLC43A3_ENST00000352187.1_Silent_p.I138I NM_001278201.1|NM_014096.2 NP_001265130.1|NP_054815.2 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 138 transmembrane transport integral to membrane p.I138I(1) central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 TGAGAAACAGGATTCCCCCAA 0.562000 16 24 0 0 1 0 0 TRIM9 114088 broad.mit.edu 37 14 51561204 51561204 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:51561204C>T ENST00000298355.3 - 1 1575 c.454G>A c.(454-456)Gaa>Aaa p.E152K TRIM9_ENST00000360392.4_Missense_Mutation_p.E152K|TRIM9_ENST00000338969.5_Missense_Mutation_p.E152K NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 152 proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) ATTACCCCTTCCAGTACGCGA 0.642000 4 13 0 0 1 0 0 TJP3 27134 broad.mit.edu 37 19 3735874 3735874 + Silent SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:3735874C>G ENST00000541714.2 + 10 1530 c.1068C>G c.(1066-1068)ccC>ccG p.P356P TJP3_ENST00000587686.1_Silent_p.P375P|TJP3_ENST00000589378.1_Silent_p.P365P|TJP3_ENST00000382008.3_Silent_p.P370P|TJP3_ENST00000539908.2_Silent_p.P320P|TJP3_ENST00000262968.9_Silent_p.P389P NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 370 tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) CAGAGTTGCCCAGGGAAAGCA 0.512000 40 92 0 0 1 0 0 ANKRD13B 124930 broad.mit.edu 37 17 27935029 27935029 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:27935029G>A ENST00000394859.3 + 3 430 c.276G>A c.(274-276)cgG>cgA p.R92R RP11-68I3.2_ENST00000581474.1_RNA NM_152345.4 NP_689558.4 Q86YJ7 AN13B_HUMAN ankyrin repeat domain 13B 92 cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 16 TGAGTACCCGGGACCTGGAGC 0.667000 11 27 0 0 1 0 0 VEPH1 79674 broad.mit.edu 37 3 157082155 157082155 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr3:157082155G>C ENST00000362010.2 - 8 1581 c.1274C>G c.(1273-1275)tCt>tGt p.S425C VEPH1_ENST00000392833.2_Missense_Mutation_p.S425C|VEPH1_ENST00000543418.1_Missense_Mutation_p.S425C|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.S425C NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 425 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) TCTTCTGATAGAGCCAGGGGT 0.348000 10 42 0 0 1 0 0 LILRA3 11026 broad.mit.edu 37 19 54803053 54803053 + Nonsense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:54803053C>T ENST00000391745.1 - 8 991 c.675G>A c.(673-675)tgG>tgA p.W225* LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000251390.3_Nonsense_Mutation_p.W208* leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGGGTAGAGACCACACATAGG 0.617000 30 27 0 0 1 0 0 CLCNKB 1188 broad.mit.edu 37 1 16375654 16375654 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:16375654C>G ENST00000375679.4 + 8 806 c.695C>G c.(694-696)tCt>tGt p.S232C CLCNKB_ENST00000375667.3_Missense_Mutation_p.S63C NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) TCCCACTTCTCTGTCTGGGAT 0.637000 27 66 0 0 1 0 0 BACH2 60468 broad.mit.edu 37 6 90647890 90647890 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:90647890C>T ENST00000257749.4 - 8 2723 c.2016G>A c.(2014-2016)caG>caA p.Q672Q BACH2_ENST00000343122.3_Silent_p.Q672Q|BACH2_ENST00000537989.1_Silent_p.Q672Q NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 672 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) ATTCTAAATTCTGAATACAGT 0.458000 58 19 0 0 1 0 0 LYG2 254773 broad.mit.edu 37 2 99861855 99861855 + Missense_Mutation SNP A A T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:99861855A>T ENST00000409679.1 - 4 395 c.251T>A c.(250-252)aTc>aAc p.I84N LYG2_ENST00000423800.1_Missense_Mutation_p.I84N|LYG2_ENST00000409238.1_Missense_Mutation_p.I84N|LYG2_ENST00000333017.2_Missense_Mutation_p.I84N Q86SG7 LYG2_HUMAN lysozyme G-like 2 84 cell wall macromolecule catabolic process|peptidoglycan catabolic process extracellular region lysozyme activity p.I84T(1) large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1) 12 GACTTCTTTGATCAGAGTCTG 0.512000 14 44 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77656085 77656085 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr13:77656085G>A ENST00000407578.2 - 64 11346 c.11080C>T c.(11080-11082)Cat>Tat p.H3694Y MYCBP2_ENST00000357337.6_Missense_Mutation_p.H3656Y|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.H3656Y NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 3656 DOC. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TTGCTCTGATGAAGGAACTGG 0.363000 23 31 0 0 1 0 0 MSN 4478 broad.mit.edu 37 X 64959692 64959692 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chrX:64959692G>A ENST00000360270.5 + 13 1843 c.1671G>A c.(1669-1671)aaG>aaA p.K557K NM_002444.2 NP_002435.1 P26038 MOES_HUMAN moesin 557 leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 43 ACAAATACAAGACCCTGCGCC 0.547000 T ALK ALCL 43 58 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29557904 29557904 + Nonsense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:29557904C>G ENST00000358273.4 + 24 3541 c.3158C>G c.(3157-3159)tCa>tGa p.S1053* NF1_ENST00000356175.3_Nonsense_Mutation_p.S1053* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1053 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.?(4) 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) ATGGGAACATCAAACCAAGCA 0.358000 """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) 4 12 0 0 1 0 0 PAN2 9924 broad.mit.edu 37 12 56720165 56720165 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr12:56720165G>C ENST00000425394.2 - 8 1667 c.1291C>G c.(1291-1293)Ctg>Gtg p.L431V PAN2_ENST00000440411.3_Missense_Mutation_p.L431V|PAN2_ENST00000548043.1_Missense_Mutation_p.L431V|PAN2_ENST00000257931.5_Missense_Mutation_p.L431V NM_001127460.2 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 431 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 ATGGTGCGCAGAATCTCTGCA 0.572000 4 17 0 0 1 0 0 MAGEA6 4105 broad.mit.edu 37 X 151870055 151870055 + Missense_Mutation SNP T T C rs140963484 byFrequency TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chrX:151870055T>C ENST00000329342.5 + 3 970 c.745T>C c.(745-747)Tat>Cat p.Y249H NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 249 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) GCTCACCCAATATTTCGTGCA 0.547000 21 89 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558309 140558309 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr5:140558309G>A ENST00000239444.2 + 1 939 c.694G>A c.(694-696)Gaa>Aaa p.E232K NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 232 Cadherin 2. E -> G (in dbSNP:rs17096954). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTCTACATTGAAGTTGTCGA 0.507000 35 29 0 0 1 0 0 CST11 140880 broad.mit.edu 37 20 23433219 23433219 + Splice_Site SNP A A G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr20:23433219A>G ENST00000377009.3 - 1 262 c.e1+1 CST11_ENST00000377007.3_Splice_Site NM_130794.1 NP_570612.1 Q9H112 CST11_HUMAN cystatin 11 defense response to bacterium cytoplasm|nucleus cysteine-type endopeptidase inhibitor activity kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 14 Colorectal(13;0.0431)|Lung NSC(19;0.235) TCATACACTCACCTGCCTCTG 0.527000 45 77 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3142363 3142363 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr4:3142363C>G ENST00000355072.5 + 22 3070 c.2925C>G c.(2923-2925)ttC>ttG p.F975L NM_002111.6 NP_002102 P42858 HD_HUMAN huntingtin 975 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CATCTCATTTCTCCGTCAGCA 0.473000 3 62 0 0 1 0 0 SEMG1 6406 broad.mit.edu 37 20 43837052 43837052 + Missense_Mutation SNP C C A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr20:43837052C>A ENST00000372781.3 + 2 1171 c.1114C>A c.(1114-1116)Cgc>Agc p.R372S SEMG1_ENST00000244069.6_Missense_Mutation_p.R312S NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) TGTATCCCAACGCAGTATTTA 0.418000 4 58 0.00024832 0.000256628 1 1 0 PIK3CA 5290 broad.mit.edu 37 3 178922324 178922324 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr3:178922324G>A ENST00000263967.3 + 6 1250 c.1093G>A c.(1093-1095)Gaa>Aaa p.E365K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 365 C2 PI3K-type. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E365K(6) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CCATGGAGGAGAACCCTTATG 0.343000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 58 62 0 0 1 0 0 SLC7A3 84889 broad.mit.edu 37 X 70148356 70148356 + Silent SNP G G T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chrX:70148356G>T ENST00000374299.3 - 4 801 c.657C>A c.(655-657)ctC>ctA p.L219L SLC7A3_ENST00000298085.4_Silent_p.L219L Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 219 cellular nitrogen compound metabolic process integral to membrane|plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1) 31 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CCTCTTCTGTGAGCTTCCAGT 0.507000 4 7 0.184627 0.184627 1 1 0 SUSD3 203328 broad.mit.edu 37 9 95840160 95840160 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr9:95840160G>A ENST00000375472.3 + 3 346 c.310G>A c.(310-312)Gtg>Atg p.V104M SUSD3_ENST00000375469.1_Missense_Mutation_p.V91M NM_145006.2 NP_659443.1 Q96L08 SUSD3_HUMAN sushi domain containing 3 104 integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 13 TGGCTTCAAGGTGGCCGTGAT 0.597000 27 33 0 0 1 0 0 SPATA22 84690 broad.mit.edu 37 17 3352316 3352316 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:3352316G>C ENST00000573128.1 - 6 940 c.457C>G c.(457-459)Caa>Gaa p.Q153E SPATA22_ENST00000541913.1_Missense_Mutation_p.Q137E|SPATA22_ENST00000268981.5_Missense_Mutation_p.Q153E|SPATA22_ENST00000575375.1_Missense_Mutation_p.Q153E|SPATA22_ENST00000355380.4_Missense_Mutation_p.Q110E|SPATA22_ENST00000397168.3_Missense_Mutation_p.Q153E|SPATA22_ENST00000572969.1_Missense_Mutation_p.Q153E Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 153 breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2) 19 TTTTGTTGTTGAGCTCCCGAA 0.358000 35 83 0 0 1 0 0 CDH1 999 broad.mit.edu 37 16 68863653 68863653 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr16:68863653C>G ENST00000261769.5 + 15 2583 c.2392C>G c.(2392-2394)Ctt>Gtt p.L798V CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.L737V NM_004360.3 NP_004351.1 P12830 CADH1_HUMAN cadherin 1, type 1, E-cadherin (epithelial) 798 adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) CCCCCGGTATCTTCCCCGCCC 0.522000 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 19 80 0 0 1 0 0 GOLGA6L7P 728310 broad.mit.edu 37 15 29092257 29092257 + RNA SNP C C T rs75388271 by1000genomes TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr15:29092257C>T ENST00000569815.1 - 0 258 NR_047567.1 TCAGGGTTAGCGCCATGATTT 0.547000 4 32 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53958360 53958360 + RNA SNP C C A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:53958360C>A ENST00000454407.1 + 0 1052 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S146*(1) endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) TGGAATTCTTCATTACTCACA 0.373000 31 62 2.46105e-21 2.72579e-21 1 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144879256 144879256 + Silent SNP C C A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:144879256C>A ENST00000369359.4 - 30 4640 c.4602G>T c.(4600-4602)ctG>ctT p.L1534L PDE4DIP_ENST00000369356.4_Silent_p.L1398L|PDE4DIP_ENST00000530740.1_Silent_p.L1534L|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.L1354L|PDE4DIP_ENST00000369354.3_Silent_p.L1398L Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1398 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CAACAGCTCTCAGCTTCCAGG 0.537000 T PDGFRB MPD 19 102 1.00905e-13 1.09576e-13 1 1 0 UBE4A 9354 broad.mit.edu 37 11 118257262 118257262 + Missense_Mutation SNP A A G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr11:118257262A>G ENST00000252108.3 + 16 2653 c.2522A>G c.(2521-2523)cAg>cGg p.Q841R UBE4A_ENST00000431736.2_Missense_Mutation_p.Q848R|UBE4A_ENST00000545354.1_Missense_Mutation_p.Q313R NM_001204077.1|NM_004788.3 NP_001191006.1|NP_004779.2 Q14139 UBE4A_HUMAN ubiquitination factor E4A 841 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) ATGTTTGGACAGCTGGCACGT 0.468000 48 154 0 0 1 0 0 PDXK 8566 broad.mit.edu 37 21 45152403 45152403 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr21:45152403C>T ENST00000327574.4 + 2 495 c.145C>T c.(145-147)Ctc>Ttc p.L49F PDXK_ENST00000468090.1_Intron|PDXK_ENST00000476313.1_Intron|PDXK_ENST00000291565.4_Intron|PDXK_ENST00000398081.1_Intron O00764 PDXK_HUMAN pyridoxal (pyridoxine, vitamin B6) kinase 109 cell proliferation|pyridoxal 5'-phosphate salvage cytosol ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18) Pyridoxal(DB00147)|Pyridoxine(DB00165) CGACTTCATTCTCGGATACGT 0.458000 34 57 0 0 1 0 0 KLK6 5653 broad.mit.edu 37 19 51470539 51470539 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:51470539C>T ENST00000376851.3 - 3 522 c.83G>A c.(82-84)tGc>tAc p.C28Y KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000424910.2_Intron|KLK6_ENST00000310157.2_Missense_Mutation_p.C28Y|KLK6_ENST00000376853.4_Missense_Mutation_p.C28Y|KLK6_ENST00000594641.1_Missense_Mutation_p.C28Y NM_001012964.1 NP_001012982.1 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 28 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) TGTCTTGTCGCAGGGTCCGCC 0.587000 10 25 0 0 1 0 0 IL6R 3570 broad.mit.edu 37 1 154420627 154420627 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:154420627G>A ENST00000368485.3 + 7 1413 c.976G>A c.(976-978)Gag>Aag p.E326K IL6R_ENST00000507256.1_3'UTR|IL6R_ENST00000344086.4_Missense_Mutation_p.E326K NM_000565.3 NP_000556.1 P08887 IL6RA_HUMAN interleukin 6 receptor 326 acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity IL6R/ATP8B2(2) breast(2)|large_intestine(1)|ovary(3) 6 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AGCTGAGAACGAGGTGTCCAC 0.547000 38 64 0 0 1 0 0 AK1 203 broad.mit.edu 37 9 130630320 130630320 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr9:130630320G>A ENST00000373176.1 - 7 704 c.552C>T c.(550-552)tcC>tcT p.S184S RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000373156.1_Silent_p.S184S|AK1_ENST00000223836.10_Silent_p.S200S NM_000476.2 NP_000467.1 P00568 KAD1_HUMAN adenylate kinase 1 184 ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion cytosol adenylate kinase activity|ATP binding|protein binding endometrium(1)|prostate(1) 2 TGCAGACCTGGGAGAAGACAC 0.662000 20 41 0 0 1 0 0 CYP21A1P 1590 broad.mit.edu 37 6 31975500 31975500 + RNA SNP C C A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:31975500C>A ENST00000342991.6 + 0 1423 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen CCTGGTGCCTCCAGCTCCCGG 0.657000 11 15 6.72482e-11 7.21815e-11 1 1 0 LOC647323 647323 broad.mit.edu 37 3 193712013 193712013 + RNA SNP C C A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr3:193712013C>A ENST00000397645.2 - 0 75 RP11-699L21.2_ENST00000426616.1_lincRNA NR_033944.1 CTGACATTTTCAGCAACACCC 0.463000 4 3 0.00909568 0.00916159 1 1 0 SPRED3 399473 broad.mit.edu 37 19 38881044 38881044 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:38881044C>T ENST00000338502.4 + 1 205 c.102C>T c.(100-102)gtC>gtT p.V34V SPRED3_ENST00000586301.1_Silent_p.V34V|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000587013.1_Intron NM_001042522.2 NP_001035987.1 Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 34 WH1. multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TGTGTCGGGTCCGAGGGGCCA 0.731000 4 8 0 0 1 0 0 MPHOSPH6 10200 broad.mit.edu 37 16 82183009 82183009 + Splice_Site SNP C C A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr16:82183009C>A ENST00000258169.4 - 4 306 c.e4-1 MPHOSPH6_ENST00000563504.1_Splice_Site NM_005792.2 NP_005783.2 Q99547 MPH6_HUMAN M-phase phosphoprotein 6 M phase of mitotic cell cycle|maturation of 5.8S rRNA cytoplasm|nucleolus protein binding|RNA binding endometrium(1)|large_intestine(1)|lung(3) 5 GCATCAATTTCTGAAAAATAC 0.398000 34 35 1.90571e-15 2.08578e-15 1 1 0 DOCK2 1794 broad.mit.edu 37 5 169461533 169461533 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr5:169461533C>T ENST00000256935.8 + 35 3678 c.3598C>T c.(3598-3600)Cgc>Tgc p.R1200C DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R692C|DOCK2_ENST00000540750.1_Missense_Mutation_p.R261C NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1200 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding p.R1200C(1) NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAAAGACAACCGCATGAGCTG 0.592000 19 46 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145773342 145773344 + In_Frame_Del DEL CTG CTG - rs77462981 TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr8:145773342_145773344delCTG ENST00000276826.5 - 4 1327_1329 c.1126_1128delCAG c.(1126-1128)cagdel p.Q376del ARHGAP39_ENST00000540274.1_In_Frame_Del_p.Q376del|ARHGAP39_ENST00000377307.2_In_Frame_Del_p.Q376del Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 376 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 CGGGACACTTCTGCTTGGTGAGC 0.704 9 4 --- --- --- --- RP11-286N22.10 0 broad.mit.edu 37 11 61265344 61265345 + RNA DEL TG TG - TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr11:61265344_61265345delTG ENST00000534856.1 + 0 240 TTGGAGAGCCTGTGTGTGTGTG 0.500 2 4 --- --- --- --- TIGD3 220359 broad.mit.edu 37 11 65124162 65124162 + Frame_Shift_Del DEL C C - TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr11:65124162delC ENST00000309880.5 + 2 1090 c.883delC c.(883-885)cccfs p.P295fs NM_145719.2 NP_663771.1 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 295 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 CACCACGCCTCCCCTGCCCAG 0.652 24 69 --- --- --- --- LTBP3 4054 broad.mit.edu 37 11 65315174 65315174 + Frame_Shift_Del DEL C C - TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr11:65315174delC ENST00000301873.5 - 13 2233 c.1965delG c.(1963-1965)gggfs p.G655fs LTBP3_ENST00000536982.1_Frame_Shift_Del_p.G281fs|LTBP3_ENST00000322147.4_Frame_Shift_Del_p.G655fs|LTBP3_ENST00000532932.1_Frame_Shift_Del_p.G85fs NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 655 Cys-rich.|EGF-like 4; calcium-binding (Potential). extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 CGCACGAGCGCCCCCCGGCGC 0.736 2 4 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546732 11546733 + In_Frame_Ins INS - - AGA TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr12:11546732_11546733insAGA ENST00000389362.4 - 3 314_315 c.279_280insTCT c.(277-282)ccacct>ccaTCTcct p.93_94PP>PSP PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTTCCTGGAGGTGGGGGACCTT 0.614 9 706 --- --- --- --- IGHV3-30 28439 broad.mit.edu 37 14 106791039 106791040 + RNA INS - - T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:106791039_106791040insT ENST00000390613.2 - 0 395_396 GTCCTCAGCTCTCAGGCTGTTC 0.510 100 562 --- --- --- --- CHRNA3 1136 broad.mit.edu 37 15 78913068 78913070 + In_Frame_Del DEL CAG CAG - rs72025661 TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr15:78913068_78913070delCAG ENST00000326828.5 - 1 451_453 c.67_69delCTG c.(67-69)ctgdel p.L23del CHRNA3_ENST00000348639.3_In_Frame_Del_p.L23del NM_000743.4 NP_000734.2 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 23 Missing. activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 gcagcagagacagcagcagcagc 0.768 3 6 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 2 4 --- --- --- --- LINC01229 101928248 broad.mit.edu 37 16 79756932 79756934 + RNA DEL TGG TGG - rs67854673 TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr16:79756932_79756934delTGG ENST00000561510.1 + 0 361 atgatggtgatggtggtggtggt 0.567 3 3 --- --- --- --- WDR81 124997 broad.mit.edu 37 17 1631642 1631642 + Frame_Shift_Del DEL C C - TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:1631642delC ENST00000409644.1 + 1 3389 c.3389delC c.(3388-3390)gccfs p.A1130fs WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_Frame_Shift_Del_p.A79fs|WDR81_ENST00000419248.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Intron NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 0 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GAGGGGGGTGCCCCCGTGGAC 0.662 37 65 --- --- --- --- SCRT2 85508 broad.mit.edu 37 20 644846 644847 + Frame_Shift_Ins INS - - C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr20:644846_644847insC ENST00000246104.6 - 2 969_970 c.392_393insG c.(391-393)ggcfs p.G131fs RP5-850E9.3_ENST00000488788.2_Intron NM_033129.3 NP_149120.1 Q9NQ03 SCRT2_HUMAN scratch family zinc finger 2 131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|liver(1)|ovary(1) 3 cgtctcccgagccccccgcgtc 0.822 2 4 --- --- --- --- BCL2L1 598 broad.mit.edu 37 20 30309591 30309591 + Frame_Shift_Del DEL A A - TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr20:30309591delA ENST00000307677.4 - 2 841 c.431delT c.(430-432)ttcfs p.F144fs BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376055.4_Intron NM_138578.1 NP_612815.1 Q07817 B2CL1_HUMAN BCL2-like 1 144 induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nuclear membrane BH3 domain binding|identical protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) GCCGAAGGAGAAAAAGGCCAC 0.542 7 1557 --- --- --- --- SYCP2 10388 broad.mit.edu 37 20 58467047 58467047 + Frame_Shift_Del DEL T T - TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr20:58467047delT ENST00000357552.3 - 24 2587 c.2362delA c.(2362-2364)atgfs p.M788fs SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M788fs Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 788 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding p.M788fs*1(1) NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) AAGCTCACCATTTTTTTTTGT 0.323 7 72 --- --- --- --- ZNF185 7739 broad.mit.edu 37 X 152087570 152087572 + In_Frame_Del DEL GAG GAG - TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chrX:152087570_152087572delGAG ENST00000535861.1 + 7 523_525 c.475_477delGAG c.(475-477)gagdel p.E165del ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000370270.2_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 165 Poly-Glu. cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) AGGGGACACCgaggaggaggagg 0.596 7 38 --- --- --- ---