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 TRBV6-6 0 broad.mit.edu 37 7 142162076 142162076 + RNA SNP A A C TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr7:142162076A>C ENST00000390371.3 - 0 242 CCAACTGAATAATAAATCAGC 0.488000 129 231 0 0 1 0 0 OR52L1 338751 broad.mit.edu 37 11 6007581 6007581 + Missense_Mutation SNP G G T TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr11:6007581G>T ENST00000332249.4 - 1 634 c.580C>A c.(580-582)Cat>Aat p.H194N NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAATAGGCATGGCCTATGATG 0.488000 60 146 4.64219e-42 5.42779e-42 1 1 0 TMEM79 84283 broad.mit.edu 37 1 156256177 156256177 + Missense_Mutation SNP T T A TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr1:156256177T>A ENST00000405535.2 + 3 1055 c.884T>A c.(883-885)tTc>tAc p.F295Y TMEM79_ENST00000295694.5_Missense_Mutation_p.F295Y|TMEM79_ENST00000357501.2_Silent_p.L56L|TMEM79_ENST00000495881.1_3'UTR NM_032323.2 NP_115699.1 Q9BSE2 TMM79_HUMAN transmembrane protein 79 295 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1) 21 Hepatocellular(266;0.158) ATTCTCTACTTCTTCAACCTG 0.577000 5 281 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3267090 3267090 + Silent SNP G G A TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr8:3267090G>A ENST00000602557.1 - 14 2157 c.1602C>T c.(1600-1602)ccC>ccT p.P534P CSMD1_ENST00000520002.1_Silent_p.P534P|CSMD1_ENST00000537824.1_Silent_p.P533P|CSMD1_ENST00000602723.1_Silent_p.P534P|CSMD1_ENST00000400186.3_Silent_p.P534P|CSMD1_ENST00000539096.1_Silent_p.P533P|CSMD1_ENST00000542608.1_Silent_p.P533P Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 534 Sushi 3. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TCCCATAGGCGGGGATTCCAG 0.478000 4 15 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296373 145296373 + Missense_Mutation SNP G G T rs3969711 TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr1:145296373G>T ENST00000342960.5 + 3 330 c.295G>T c.(295-297)Gtt>Ttt p.V99F NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 99 p.V99F(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TAAAGTCCTAGTTCACTCTCA 0.473000 5 381 0.00198382 0.00201027 1 1 0 RP11-114H24.7 0 broad.mit.edu 37 15 78212618 78212618 + RNA SNP A A G TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr15:78212618A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TGTAACCGCCACTGGAGGACC 0.562000 6 71 0 0 1 0 0 PARP10 84875 broad.mit.edu 37 8 145058577 145058577 + Missense_Mutation SNP C C A TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr8:145058577C>A ENST00000313028.7 - 6 1575 c.1481G>T c.(1480-1482)tGc>tTc p.C494F PARP10_ENST00000525773.1_Missense_Mutation_p.C506F|PARP10_ENST00000524918.1_Missense_Mutation_p.C494F NM_032789.3 NP_116178.2 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 494 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGCCGCCTGGCAGGAAGCCTG 0.612000 3 44 0.115264 0.115264 1 1 0 TNS3 64759 broad.mit.edu 37 7 47384421 47384421 + Missense_Mutation SNP C C T TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr7:47384421C>T ENST00000398879.1 - 20 2948 c.2582G>A c.(2581-2583)cGc>cAc p.R861H TNS3_ENST00000311160.9_Missense_Mutation_p.R861H|TNS3_ENST00000355730.3_Missense_Mutation_p.R621H Q68CZ2 TENS3_HUMAN tensin 3 861 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 CGGAGGATGGCGCAGCGCTGT 0.582000 19 59 0 0 1 0 0 IGHA2 0 broad.mit.edu 37 14 106054658 106054658 + RNA SNP T T G rs114771275 by1000genomes TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr14:106054658T>G ENST00000390539.2 - 0 74 GGACCAGGCATGCGACGACCA 0.622000 4 82 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152804261 152804261 + Missense_Mutation SNP C C T TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr6:152804261C>T ENST00000367255.5 - 14 1910 c.1309G>A c.(1309-1311)Gaa>Aaa p.E437K SYNE1_ENST00000367248.3_Missense_Mutation_p.E427K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E444K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E444K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E437K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E437K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E437K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E437K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E437K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 437 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) TTTGCTGTTTCCTCGTGGACC 0.493000 HNSCC(10;0.0054) 128 262 0 0 1 0 0 ZNF717 100131827 broad.mit.edu 37 3 75790798 75790798 + Translation_Start_Site SNP G G A TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr3:75790798G>A ENST00000478296.1 - 0 273 ZNF717_ENST00000477374.1_Silent_p.D49D|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000422325.1_Silent_p.D49D|ZNF717_ENST00000400845.3_Silent_p.D42D C9JSV9 C9JSV9_HUMAN zinc finger protein 717 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 CCAGCATCACGTCCCTGTACA 0.502000 5 18 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73558150 73558150 + Missense_Mutation SNP C C T TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr10:73558150C>T ENST00000224721.6 + 49 6889 c.6884C>T c.(6883-6885)aCg>aTg p.T2295M CDH23_ENST00000398788.3_Missense_Mutation_p.T50M|CDH23_ENST00000475158.1_3'UTR NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2290 calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 AATGACAATACGCCCCAGTTC 0.612000 12 83 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47851559 47851559 + Silent SNP A A G TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr21:47851559A>G ENST00000359568.5 + 38 8288 c.8181A>G c.(8179-8181)tcA>tcG p.S2727S PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2727 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) TCGAGCACTCACGCTGCGAGG 0.622000 5 85 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 83 0 0 1 0 0 GABRD 2563 broad.mit.edu 37 1 1956993 1956993 + Missense_Mutation SNP C C T TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr1:1956993C>T ENST00000378585.4 + 4 369 c.286C>T c.(286-288)Cgg>Tgg p.R96W NM_000815.4 NP_000806.2 O14764 GBRD_HUMAN gamma-aminobutyric acid (GABA) A receptor, delta 96 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) CCAGAGCTGGCGGGACAGCAG 0.652000 5 159 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10916473 10916473 + Missense_Mutation SNP C C A TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr21:10916473C>A ENST00000298232.7 - 19 1486 c.1119G>T c.(1117-1119)aaG>aaT p.K373N TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Missense_Mutation_p.K353N|TPTE_ENST00000361285.4_Missense_Mutation_p.K391N NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 391 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CAACATATCTCTTCTGAAAAG 0.338000 4 130 0.00024832 0.000258525 1 1 0 DMTF1 9988 broad.mit.edu 37 7 86815219 86815219 + Missense_Mutation SNP G G A TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr7:86815219G>A ENST00000414194.2 + 12 2118 c.326G>A c.(325-327)cGt>cAt p.R109H DMTF1_ENST00000394703.5_Missense_Mutation_p.R375H|DMTF1_ENST00000331242.7_Missense_Mutation_p.R375H|DMTF1_ENST00000432937.2_Missense_Mutation_p.R287H|DMTF1_ENST00000413276.2_Missense_Mutation_p.R375H Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 375 Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).|Required for transcriptional activation (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1) 16 Esophageal squamous(14;0.0058) AGTAGTGTCCGTTCACCACAA 0.388000 4 161 0 0 1 0 0 PCDHB12 0 broad.mit.edu 37 5 140589269 140589269 + Missense_Mutation SNP G G A TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr5:140589269G>A ENST00000239450.2 + 1 979 c.790G>A c.(790-792)Gtc>Atc p.V264I PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 264 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTTGTGACCGTCTCAGCCTG 0.423000 93 166 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 4 108 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72057183 72057183 + Missense_Mutation SNP C C T TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr12:72057183C>T ENST00000378743.3 - 1 566 c.208G>A c.(208-210)Ggt>Agt p.G70S THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.G70S|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.G70S NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 70 Ser-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GAAGAGCCACCGCCTCCGCCA 0.687000 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 172 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 10 93 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114269988 114269988 + Silent SNP G G A rs147822368 TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr7:114269988G>A ENST00000393500.3 + 11 1120 c.300G>A c.(298-300)caG>caA p.Q100Q FOXP2_ENST00000390668.3_Silent_p.Q199Q|FOXP2_ENST00000393491.3_Silent_p.Q83Q|FOXP2_ENST00000408937.3_Silent_p.Q200Q|FOXP2_ENST00000360232.4_Silent_p.Q175Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q155Q|FOXP2_ENST00000393489.3_Silent_p.Q83Q|FOXP2_ENST00000403559.4_Silent_p.Q192Q|FOXP2_ENST00000393494.2_Silent_p.Q175Q|FOXP2_ENST00000350908.4_Silent_p.Q175Q|FOXP2_ENST00000378237.3_Silent_p.Q175Q O15409 FOXP2_HUMAN forkhead box P2 175 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 aacaacaacagcagcaacaac 0.502000 6 95 0 0 1 0 0 SLC5A1 6523 broad.mit.edu 37 22 32495175 32495175 + Missense_Mutation SNP T T A TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr22:32495175T>A ENST00000266088.4 + 12 1536 c.1286T>A c.(1285-1287)tTt>tAt p.F429Y SLC5A1_ENST00000543737.1_Missense_Mutation_p.F302Y NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 429 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 TTCAGGTTGTTTATCCTGGTG 0.368000 7 185 0 0 1 0 0 GLS2 27165 broad.mit.edu 37 12 56868364 56868364 + Silent SNP G G A TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr12:56868364G>A ENST00000311966.4 - 12 1466 c.1188C>T c.(1186-1188)tgC>tgT p.C396C GLS2_ENST00000476991.1_5'UTR NM_013267.2 NP_037399.2 Q9UI32 GLSL_HUMAN glutaminase 2 (liver, mitochondrial) 396 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CATACATGCCGCAGGAATGCA 0.562000 5 134 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28821556 28821556 + Silent SNP C C T rs144960282 TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr2:28821556C>T ENST00000422425.2 + 34 2414 c.2370C>T c.(2368-2370)taC>taT p.Y790Y PLB1_ENST00000327757.5_Silent_p.Y801Y NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 801 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) TCACAGGCTACGCCGTGGGCA 0.532000 9 189 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240627 39240627 + Missense_Mutation SNP T T C rs139671425 by1000genomes TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr17:39240627T>C ENST00000391417.4 + 1 169 c.169T>C c.(169-171)Tct>Cct p.S57P NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.S57P(4) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 GTGCTGCCAGTCTGTGTGCTG 0.667000 5 115 0 0 1 0 0 HDDC3 374659 broad.mit.edu 37 15 91475096 91475096 + Missense_Mutation SNP G G A TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr15:91475096G>A ENST00000330334.3 - 3 252 c.247C>T c.(247-249)Cgg>Tgg p.R83W HDDC3_ENST00000559898.1_Missense_Mutation_p.R83W|UNC45A_ENST00000394275.2_Intron|HDDC3_ENST00000394272.3_Missense_Mutation_p.R83W NM_198527.2 NP_940929.1 Q8N4P3 MESH1_HUMAN HD domain containing 3 83 HD. guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity|metal ion binding|phosphoric diester hydrolase activity NS(1)|ovary(1) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) ACCAGGCGCCGCACTTGTGCC 0.622000 OREG0023475 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 144 0 0 1 0 0 TEX13A 56157 broad.mit.edu 37 X 104464292 104464292 + Missense_Mutation SNP C C T TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chrX:104464292C>T ENST00000372578.3 - 3 697 c.586G>A c.(586-588)Gag>Aag p.E196K TEX13A_ENST00000413579.1_Missense_Mutation_p.E196K|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.E196K NM_031274.3 NP_112564.1 Q9BXU3 TX13A_HUMAN testis expressed 13A 196 intracellular zinc ion binding p.E196Q(1) large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 CCCCTCTGCTCTTCTTCTGCT 0.652000 19 5 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195698264 195698264 + RNA SNP T T C rs12485654 by1000genomes TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr3:195698264T>C ENST00000427841.1 - 0 1608 NR_003264.2 TTTGTCAACATTCGTGACAGA 0.413000 6 89 0 0 1 0 0 TYR 7299 broad.mit.edu 37 11 88911727 88911727 + Silent SNP T T C TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr11:88911727T>C ENST00000263321.5 + 1 1108 c.606T>C c.(604-606)caT>caC p.H202H TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 202 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) ATTTTGCCCATGAAGCACCAG 0.418000 6 147 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 83195218 83195218 + Silent SNP G G A TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr11:83195218G>A ENST00000398309.2 - 17 2402 c.1932C>T c.(1930-1932)ttC>ttT p.F644F DLG2_ENST00000280241.8_Silent_p.F683F|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000398304.1_Intron|DLG2_ENST00000543673.1_Silent_p.F749F|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000404783.3_Intron|DLG2_ENST00000330014.6_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376104.2_Silent_p.F749F|DLG2_ENST00000426717.2_Intron|DLG2_ENST00000531015.1_Silent_p.F611F NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 644 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) TGTTCTTGTAGAATGGGAATT 0.393000 35 138 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139833397 139833397 + Silent SNP G G A TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr8:139833397G>A ENST00000303045.6 - 7 1673 c.1227C>T c.(1225-1227)taC>taT p.Y409Y COL22A1_ENST00000435777.1_Silent_p.Y409Y NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 409 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity p.Y409Y(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GCACACTGTCGTAGAGGCGCT 0.587000 HNSCC(7;0.00092) 32 53 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102294715 102294715 + RNA SNP C C T TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr15:102294715C>T ENST00000561463.1 + 0 2761 AGCAGGCAGACCAAGGAGTTC 0.587000 5 24 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61967816 61967816 + Missense_Mutation SNP G G A TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr10:61967816G>A ENST00000280772.1 - 10 1363 c.1172C>T c.(1171-1173)gCt>gTt p.A391V ANK3_ENST00000373827.2_Missense_Mutation_p.A385V|ANK3_ENST00000503366.1_Missense_Mutation_p.A374V NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 391 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ATTGGGGTTAGCTTTCTTATC 0.527000 7 102 0 0 1 0 0 KLF12 11278 broad.mit.edu 37 13 74269718 74269718 + Missense_Mutation SNP C C A TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr13:74269718C>A ENST00000377669.2 - 7 1144 c.1118G>T c.(1117-1119)gGa>gTa p.G373V KLF12_ENST00000377666.4_Missense_Mutation_p.G373V NM_007249.4 NP_009180.3 Q9Y4X4 KLF12_HUMAN Kruppel-like factor 12 373 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 Prostate(6;0.00217)|Breast(118;0.0838) GBM - Glioblastoma multiforme(99;0.00677) TGGCTTCACTCCCGTATGTTT 0.527000 30 66 1.16021e-09 1.27791e-09 1 1 0 MKI67 4288 broad.mit.edu 37 10 129906979 129906979 + Missense_Mutation SNP C C T TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr10:129906979C>T ENST00000368654.3 - 13 3500 c.3125G>A c.(3124-3126)gGc>gAc p.G1042D MKI67_ENST00000368653.3_Missense_Mutation_p.G682D NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1042 16 X 122 AA approximate repeats. G -> S (in dbSNP:rs2152143). cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGTGAACTTGCCGACTGCTAG 0.507000 6 724 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12885289 12885289 + Silent SNP G G T rs148273194 by1000genomes TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr1:12885289G>T ENST00000535591.1 - 4 1017 c.822C>A c.(820-822)ctC>ctA p.L274L NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 274 p.L274L(3) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GGCACTGGGAGAGATGCTTCA 0.458000 7 262 5.18039e-06 5.46819e-06 1 1 0 STAC 6769 broad.mit.edu 37 3 36484942 36484942 + Silent SNP C C T TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr3:36484942C>T ENST00000273183.3 + 2 498 c.198C>T c.(196-198)agC>agT p.S66S STAC_ENST00000457375.2_Silent_p.S66S|STAC_ENST00000476388.1_3'UTR NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 66 intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 GAACCAACAGCGAAGACATGA 0.527000 45 69 0 0 1 0 0 ACSS2 55902 broad.mit.edu 37 20 33514747 33514747 + Silent SNP C C T TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr20:33514747C>T ENST00000360596.2 + 17 2182 c.1971C>T c.(1969-1971)acC>acT p.T657T ACSS2_ENST00000336325.4_Silent_p.T607T|ACSS2_ENST00000253382.5_Silent_p.T670T|ACSS2_ENST00000476922.1_3'UTR NM_018677.3 NP_061147.1 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 657 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9) 21 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TGCCTAAAACCCGCTCAGGTA 0.532000 27 32 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811117 140811117 + Silent SNP C C T rs62344938 TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr4:140811117C>T ENST00000509479.2 - 2 2329 c.1473G>A c.(1471-1473)caG>caA p.Q491Q MAML3_ENST00000398940.1_Silent_p.Q30Q|MAML3_ENST00000327122.5_Silent_p.Q335Q NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 491 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgttgct 0.547000 4 67 0 0 1 0 0 LRIF1 55791 broad.mit.edu 37 1 111494145 111494145 + Missense_Mutation SNP G G T TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr1:111494145G>T ENST00000369763.4 - 2 1751 c.1361C>A c.(1360-1362)aCc>aAc p.T454N LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron NM_018372.3 NP_060842.3 Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 454 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 TGGATTTGTGGTAGAAGGAGA 0.393000 63 139 1.63498e-16 1.85461e-16 1 1 0 ACCSL 390110 broad.mit.edu 37 11 44076793 44076793 + Missense_Mutation SNP C C A TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr11:44076793C>A ENST00000378832.1 + 9 1147 c.1091C>A c.(1090-1092)tCt>tAt p.S364Y NM_001031854.2 NP_001027025.2 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 364 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2) 34 TACATGCTGTCTGTGTTTGAT 0.393000 21 51 1.9806e-07 2.15036e-07 1 1 0 AC005609.1 0 broad.mit.edu 37 5 140242899 140242899 + Missense_Mutation SNP T T C TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr5:140242899T>C ENST00000502505.1 - 1 325 c.77A>G c.(76-78)gAc>gGc p.D26G PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron CTGCGTGGTGTCCAGCCTGTT 0.642000 31 78 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195698262 195698262 + RNA SNP C C G rs28503679 by1000genomes TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr3:195698262C>G ENST00000427841.1 - 0 1610 NR_003264.2 AATTTGTCAACATTCGTGACA 0.418000 5 95 0 0 1 0 0 ATG3 64422 broad.mit.edu 37 3 112255367 112255367 + Missense_Mutation SNP T T C rs79676996 TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr3:112255367T>C ENST00000402314.2 - 10 1136 c.749A>G c.(748-750)cAc>cGc p.H250R ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000283290.5_Missense_Mutation_p.H250R Q9NT62 ATG3_HUMAN autophagy related 3 250 autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination cytoplasmic ubiquitin ligase complex|cytosol Atg12 ligase activity|Atg8 ligase activity|enzyme binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3) 9 CAGATGAGGGTGATTTTCAAT 0.388000 31 66 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 57 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 67040650 67040650 + Silent SNP A A C TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr17:67040650A>C ENST00000340001.4 - 5 772 c.561T>G c.(559-561)gcT>gcG p.A187A ABCA9_ENST00000495634.1_Silent_p.A187A|ABCA9_ENST00000453985.2_Silent_p.A187A|ABCA9_ENST00000370732.2_Silent_p.A187A NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 187 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) CTATGATAGCAGCATTAATGG 0.353000 16 46 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 9 64 0 0 1 0 0 CLEC4A 50856 broad.mit.edu 37 12 8289395 8289395 + Silent SNP C C T TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr12:8289395C>T ENST00000229332.5 + 5 709 c.462C>T c.(460-462)ttC>ttT p.F154F CLEC4A_ENST00000360500.3_Silent_p.F115F|CLEC4A_ENST00000352620.3_Silent_p.F121F|CLEC4A_ENST00000345999.3_Silent_p.F82F 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 154 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) ATTTCATCTTCCAGAATCTGC 0.413000 35 51 0 0 1 0 0 ITCH 83737 broad.mit.edu 37 20 33033194 33033194 + Nonsense_Mutation SNP T T G TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr20:33033194T>G ENST00000374864.4 + 11 1281 c.1068T>G c.(1066-1068)taT>taG p.Y356* ITCH_ENST00000262650.6_Nonsense_Mutation_p.Y397*|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Nonsense_Mutation_p.Y246* NM_001257137.1|NM_001257138.1|NM_031483.5 NP_001244066.1|NP_001244067.1|NP_113671.3 Q96J02 ITCH_HUMAN itchy E3 ubiquitin protein ligase 397 WW 1. apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36 TCCGGAACTATGAACAATGGC 0.458000 49 48 0 0 1 0 0 SPATA13 221178 broad.mit.edu 37 13 24852919 24852919 + Missense_Mutation SNP A A T TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr13:24852919A>T ENST00000343003.6 + 2 296 c.81A>T c.(79-81)aaA>aaT p.K27N SPATA13_ENST00000382108.3_Intron|SPATA13_ENST00000409126.1_Intron|SPATA13_ENST00000382095.4_Intron|SPATA13_ENST00000399949.2_Intron|SPATA13_ENST00000424834.2_Intron Q96N96 SPT13_HUMAN spermatogenesis associated 13 0 cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction cytoplasm|filopodium|lamellipodium|ruffle membrane protein binding|Rac guanyl-nucleotide exchange factor activity breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) AAAAAGAAAAATATAGAAAAG 0.363000 14 15 0 0 1 0 0 LRCH1 23143 broad.mit.edu 37 13 47266692 47266692 + Missense_Mutation SNP A A G TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr13:47266692A>G ENST00000311191.6 + 8 1265 c.1036A>G c.(1036-1038)Agc>Ggc p.S346G LRCH1_ENST00000389797.3_Missense_Mutation_p.S346G|LRCH1_ENST00000389798.3_Missense_Mutation_p.S346G NM_001164213.1 NP_001157685.1 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 1 346 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) AGACACTGTTAGCCTCAATGT 0.393000 47 119 0 0 1 0 0 WISP1 8840 broad.mit.edu 37 8 134232956 134232956 + Missense_Mutation SNP G G A rs140648348 byFrequency TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr8:134232956G>A ENST00000250160.6 + 3 588 c.482G>A c.(481-483)cGc>cAc p.R161H WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron NM_003882.3 NP_003873.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 161 VWFC. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) CTCCGAGTGCGCCCCCCGCGT 0.657000 10 127 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 3 29 0 0 1 0 0 SLC38A3 10991 broad.mit.edu 37 3 50251640 50251640 + RNA SNP C C T TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr3:50251640C>T ENST00000420502.1 + 0 162 Q99624 S38A3_HUMAN solute carrier family 38, member 3 cellular nitrogen compound metabolic process|sodium ion transport integral to plasma membrane antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity breast(1)|cervix(1)|endometrium(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615) L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117) GCCATGGAGGCGCCTTTGCAG 0.607000 6 25 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121416568 121416568 + Missense_Mutation SNP C C A TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr3:121416568C>A ENST00000393667.3 - 13 2912 c.2802G>T c.(2800-2802)aaG>aaT p.K934N GOLGB1_ENST00000340645.5_Missense_Mutation_p.K929N NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 929 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) CTTTAAGAGTCTTAATTTCAA 0.358000 56 179 3.76997e-23 4.34117e-23 1 1 0 NAV3 89795 broad.mit.edu 37 12 78362364 78362364 + Nonsense_Mutation SNP C C T TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr12:78362364C>T ENST00000397909.2 + 5 726 c.553C>T c.(553-555)Caa>Taa p.Q185* NAV3_ENST00000228327.6_Nonsense_Mutation_p.Q185*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.Q185*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.Q185* Q8IVL0 NAV3_HUMAN neuron navigator 3 185 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CTACAAGCAGCAACAACACCA 0.413000 HNSCC(70;0.22) 35 89 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1988172 1988172 + Missense_Mutation SNP C C T TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr12:1988172C>T ENST00000382722.5 - 15 1956 c.1594G>A c.(1594-1596)Ggc>Agc p.G532S CACNA2D4_ENST00000585708.1_Missense_Mutation_p.G468S|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.G417S|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.G532S|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.G468S|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.G532S NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 532 Cache. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) ACATCTGAGCCCACCACACCC 0.602000 20 44 0 0 1 0 0 RP11-343N15.1 0 broad.mit.edu 37 1 121137791 121137793 + RNA DEL CCA CCA - rs28552466 by1000genomes TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr1:121137791_121137793delCCA ENST00000437515.1 - 0 329 ATTTCGCCCTCCACCGCCGCCGC 0.631 7 19 --- --- --- --- NBPF20 100288142 broad.mit.edu 37 1 148262295 148262297 + In_Frame_Del DEL TTC TTC - TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr1:148262295_148262297delTTC ENST00000369202.1 - 98 12316_12318 c.12119_12121delGAA c.(12118-12123)aaa>a p.RK4040del neuroblastoma breakpoint family, member 20 breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 27 tccccttcttttcttccccttct 0.438 8 218 --- --- --- --- ITPRIPL1 150771 broad.mit.edu 37 2 96992793 96992795 + In_Frame_Del DEL GAG GAG - TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr2:96992793_96992795delGAG ENST00000361124.4 + 1 859_861 c.448_450delGAG c.(448-450)del p.E155del ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 147 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTCCAGCAGTGAGGAGGAGGAGG 0.532 7 103 --- --- --- --- AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 8 --- --- --- --- CXXC4 80319 broad.mit.edu 37 4 105412465 105412467 + In_Frame_Del DEL GCC GCC - TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr4:105412465_105412467delGCC ENST00000394767.2 - 2 943_945 c.493_495delGGC c.(493-495)del p.G165del CXXC4_ENST00000426831.1_5'UTR|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 0 Interaction with DVL1 (By similarity). negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TGGTCCTgctgccgccgccgccg 0.695 8 149 --- --- --- --- RP11-440G9.1 0 broad.mit.edu 37 6 142860298 142860299 + RNA INS - - T rs143051118 by1000genomes TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr6:142860298_142860299insT ENST00000447311.1 - 0 364 NR_027312.1 ttaggccagtatttttttttta 0.470 5 7 --- --- --- --- TRBV6-5 0 broad.mit.edu 37 7 142180819 142180821 + RNA DEL AGG AGG - TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr7:142180819_142180821delAGG ENST00000390368.2 - 0 115 CCTGCAGAGAAGGAGAACAAAGC 0.557 7 178 --- --- --- --- ZNF395 55893 broad.mit.edu 37 8 28209226 28209228 + In_Frame_Del DEL GCA GCA - rs142343457 byFrequency TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr8:28209226_28209228delGCA ENST00000344423.5 - 7 1148_1150 c.1017_1019delTGC c.(1015-1020)gcc>gc p.AA339del ZNF395_ENST00000523095.1_In_Frame_Del_p.AA339del|ZNF395_ENST00000523202.1_In_Frame_Del_p.AA339del NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 339 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GGTGCCTgcggcagcagcagcag 0.606 8 226 --- --- --- --- DPYS 1807 broad.mit.edu 37 8 105440214 105440214 + Frame_Shift_Del DEL T T - TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr8:105440214delT ENST00000351513.2 - 6 1218 c.1086delA c.(1084-1086)aafs p.K362fs NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 362 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCACCACGCCTTTTTCCCATA 0.478 7 544 --- --- --- --- C9orf43 257169 broad.mit.edu 37 9 116187646 116187648 + In_Frame_Del DEL GCA GCA - TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr9:116187646_116187648delGCA ENST00000288462.4 + 10 1334_1336 c.888_890delGCA c.(886-891)cgg>cg p.RQ296del C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del NM_152786.1 NP_689999.1 Q8TAL5 CI043_HUMAN chromosome 9 open reading frame 43 296 Gln-rich. breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 agcagcagcggcagcagcagcag 0.557 7 119 --- --- --- --- PRDM12 59335 broad.mit.edu 37 9 133543701 133543702 + Splice_Site DEL GT GT - TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr9:133543701_133543702delGT ENST00000253008.2 + 3 630 c.e3+1 NM_021619.2 NP_067632.2 Q9H4Q4 PRD12_HUMAN PR domain containing 12 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534) OV - Ovarian serous cystadenocarcinoma(145;0.000344) GGCCATTGAGGTGTGTGTGTGT 0.594 11 115 --- --- --- --- FUZ 80199 broad.mit.edu 37 19 50310483 50310485 + In_Frame_Del DEL CAG CAG - TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr19:50310483_50310485delCAG ENST00000313777.4 - 11 1343_1345 c.1180_1182delCTG c.(1180-1182)del p.L394del FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000445575.2_Intron NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 394 Leu-rich. cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) TCTGGGGAGACAGCAGCAGCAGC 0.635 8 104 --- --- --- --- TRIM28 10155 broad.mit.edu 37 19 59059081 59059082 + Splice_Site INS - - T TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr19:59059081_59059082insT ENST00000253024.5 + 5 1128 c.e5+1 TRIM28_ENST00000341753.6_Splice_Site NM_005762.2 NP_005753.1 Q13263 TIF1B_HUMAN tripartite motif containing 28 epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) TTCGCAGCTCGTAAGTGTGGGT 0.594 54 121 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17131536 17131537 + RNA INS - - CTG rs34452519 TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b6d4db-b129-4065-a0d4-923c41a0d7b7 ae7020ae-a05c-4600-8e4f-566529e96967 g.chr22:17131536_17131537insCTG ENST00000426585.1 + 0 2562_2563 TGCCCACTCTTCTGGTCTCATG 0.540 2 4 --- --- --- ---