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 KIF7 374654 broad.mit.edu 37 15 90190895 90190895 + Silent SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr15:90190895G>T ENST00000394412.3 - 6 1568 c.1492C>A c.(1492-1494)Cgg>Agg p.R498R NM_198525.2 NP_940927.2 Q2M1P5 KIF7_HUMAN kinesin family member 7 498 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 25 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) TCCTCCAGCCGCGCCACCTGG 0.672000 OREG0023460 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 5 3.09899e-07 3.59293e-07 1 1 0 KCNB2 9312 broad.mit.edu 37 8 73848398 73848398 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr8:73848398G>C ENST00000523207.1 + 3 1396 c.808G>C c.(808-810)Gat>Cat p.D270H NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 270 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) GAATGTCATTGATTTGCTGGC 0.468000 35 62 0 0 1 0 0 OR5J2 282775 broad.mit.edu 37 11 55944359 55944359 + Missense_Mutation SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:55944359A>T ENST00000312298.1 + 1 266 c.266A>T c.(265-267)aAg>aTg p.K89M NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) CTGGTTGTGAAGGCAACAATT 0.458000 38 58 0 0 1 0 0 SNTB1 6641 broad.mit.edu 37 8 121705982 121705982 + Silent SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr8:121705982G>C ENST00000395601.3 - 3 1152 c.738C>G c.(736-738)ctC>ctG p.L246L SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Silent_p.L246L NM_021021.3 NP_066301.1 Q13884 SNTB1_HUMAN syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) 246 PH 1. muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6) 24 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) AGCACATTTTGAGGGGGATGC 0.567000 10 66 0 0 1 0 0 DNAAF1 123872 broad.mit.edu 37 16 84203679 84203679 + Silent SNP C C A rs147804813 byFrequency TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr16:84203679C>A ENST00000378553.5 + 8 1369 c.1245C>A c.(1243-1245)acC>acA p.T415T DNAAF1_ENST00000334315.5_Intron|DNAAF1_ENST00000563818.1_3'UTR NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 415 Pro-rich. axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 CAGAGGGGACCCTCCCAGCTG 0.622000 31 49 6.00712e-18 8.15801e-18 1 1 0 PCK2 5106 broad.mit.edu 37 14 24572007 24572007 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr14:24572007C>T ENST00000545054.2 + 8 1796 c.878C>T c.(877-879)cCg>cTg p.P293L PCK2_ENST00000561286.1_Missense_Mutation_p.P293L|PCK2_ENST00000559250.1_Missense_Mutation_p.P439L|NRL_ENST00000561028.1_Intron|PCK2_ENST00000558096.1_Missense_Mutation_p.P293L|PCK2_ENST00000216780.4_Missense_Mutation_p.P427L Q16822 PCKGM_HUMAN phosphoenolpyruvate carboxykinase 2 (mitochondrial) 427 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(265;0.0184) TTTTGTGCCCCGGCTCGCCAG 0.562000 20 109 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44841709 44841709 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr20:44841709C>A ENST00000372262.3 - 5 1357 c.957G>T c.(955-957)gaG>gaT p.E319D CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Missense_Mutation_p.E319D NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 319 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) CGCTGCTGCTCTCGTCCTTAA 0.582000 17 22 5.01169e-05 5.54419e-05 1 1 0 IFT81 28981 broad.mit.edu 37 12 110566905 110566905 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr12:110566905G>T ENST00000242591.5 + 4 905 c.399G>T c.(397-399)caG>caT p.Q133H IFT81_ENST00000552912.1_Missense_Mutation_p.Q133H|IFT81_ENST00000361948.4_Missense_Mutation_p.Q133H NM_014055.3 NP_054774.2 Q8WYA0 IFT81_HUMAN intraflagellar transport 81 homolog (Chlamydomonas) 133 cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1) 10 AGTTTCTTCAGGATGAAACTG 0.348000 15 18 3.52763e-06 3.96859e-06 1 1 0 HBD 3045 broad.mit.edu 37 11 5254322 5254322 + Splice_Site SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:5254322G>A ENST00000380299.3 - 3 530 c.315_splice c.e3-1 p.L106_splice HBD_ENST00000292901.3_Intron NM_000519.3 NP_000510.1 P02042 HBD_HUMAN hemoglobin, delta 106 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 16 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTGCCCAAGAGCTGCGGAGAA 0.502000 12 30 0 0 1 0 0 MAATS1 89876 broad.mit.edu 37 3 119466698 119466698 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr3:119466698G>A ENST00000273390.5 + 16 2169 c.2092G>A c.(2092-2094)Gtt>Att p.V698I RP11-169N13.4_ENST00000489428.2_RNA NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 TGCTGAGTTGGTTTATAGTTT 0.308000 8 8 0 0 1 0 0 TMEM74 157753 broad.mit.edu 37 8 109796736 109796736 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr8:109796736C>G ENST00000297459.3 - 2 770 c.592G>C c.(592-594)Gtc>Ctc p.V198L TMEM74_ENST00000518838.1_Intron NM_153015.1 NP_694560.1 Q96NL1 TMM74_HUMAN transmembrane protein 74 198 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) TCCCGTGGGACGATGTAAGAG 0.572000 14 37 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520759 33520759 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:33520759C>G ENST00000297307.5 - 1 653 c.568G>C c.(568-570)Gcc>Ccc p.A190P NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 190 integral to membrane TAGCCCAGGGCGGTGTAGACA 0.597000 63 107 0 0 1 0 0 PRAM1 84106 broad.mit.edu 37 19 8563374 8563374 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:8563374G>A ENST00000423345.4 - 2 1838 c.1318C>T c.(1318-1320)Cgg>Tgg p.R440W PRAM1_ENST00000255612.3_Missense_Mutation_p.R440W Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 488 Pro-rich. lipid binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 GGCCTCCGCCGGGGTGGATGG 0.716000 10 13 0 0 1 0 0 OR1L4 254973 broad.mit.edu 37 9 125486317 125486317 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr9:125486317G>T ENST00000259466.1 + 1 49 c.49G>T c.(49-51)Ggc>Tgc p.G17C NM_001005235.1 NP_001005235.1 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, member 4 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1) 20 CATCCTCCTGGGCCTCTCTTC 0.498000 59 145 3.30226e-22 4.676e-22 1 1 0 CDT1 81620 broad.mit.edu 37 16 88874608 88874608 + Silent SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr16:88874608C>G ENST00000301019.4 + 10 2182 c.1563C>G c.(1561-1563)gtC>gtG p.V521V NM_030928.3 NP_112190.2 Q9H211 CDT1_HUMAN chromatin licensing and DNA replication factor 1 521 DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(80;0.0476) ACACCTACGTCAAGCTGGACA 0.672000 8 16 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160505046 160505046 + Silent SNP A A G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:160505046A>G ENST00000356956.1 + 40 6046 c.5898A>G c.(5896-5898)ccA>ccG p.P1966P NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1966 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) TTGGGAGGCCACAAGTCTTCA 0.463000 43 68 0 0 1 0 0 NIM1K 167359 broad.mit.edu 37 5 43246074 43246074 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr5:43246074C>G ENST00000512796.1 + 2 1696 c.197C>G c.(196-198)aCg>aGg p.T66R NIM1_ENST00000326035.2_Missense_Mutation_p.T66R Q8IY84 NIM1_HUMAN 66 ATP binding|magnesium ion binding|protein serine/threonine kinase activity AGGGAGATCACGCTGGGGAAA 0.552000 22 71 0 0 1 0 0 ZCCHC16 340595 broad.mit.edu 37 X 111698150 111698150 + Missense_Mutation SNP A A G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chrX:111698150A>G ENST00000340433.2 + 1 424 c.194A>G c.(193-195)cAt>cGt p.H65R NM_001004308.2 NP_001004308.2 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 65 nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 ACCCAGTTTCATGGTGACCCT 0.512000 27 9 0 0 1 0 0 FAM69B 138311 broad.mit.edu 37 9 139616668 139616668 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr9:139616668C>G ENST00000371691.1 + 2 1236 c.137C>G c.(136-138)cCc>cGc p.P46R FAM69B_ENST00000371692.4_Missense_Mutation_p.P133R|SNHG7_ENST00000414282.1_RNA Q5VUD6 FA69B_HUMAN family with sequence similarity 69, member B 133 endoplasmic reticulum membrane|integral to membrane NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1) 8 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013) GATGCGGCCCCCCGGCGGGAG 0.627000 5 43 0 0 1 0 0 R3HCC1L 27291 broad.mit.edu 37 10 99969345 99969345 + Missense_Mutation SNP A A G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr10:99969345A>G ENST00000298999.3 + 5 1777 c.1474A>G c.(1474-1476)Agt>Ggt p.S492G R3HCC1L_ENST00000370584.3_Missense_Mutation_p.S492G|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR NM_014472.4 NP_055287.4 R3H domain and coiled-coil containing 1-like CTCTGAACTCAGTATGTTAAA 0.403000 44 12 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24135177 24135177 + Missense_Mutation SNP A A G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr16:24135177A>G ENST00000303531.7 + 9 1092 c.940A>G c.(940-942)Acc>Gcc p.T314A PRKCB_ENST00000321728.7_Missense_Mutation_p.T314A NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 314 apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) CAGTCAGGGAACCAAGGTCCC 0.473000 31 9 0 0 1 0 0 SYT11 23208 broad.mit.edu 37 1 155837976 155837976 + Silent SNP T T G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:155837976T>G ENST00000368324.4 + 2 508 c.255T>G c.(253-255)ccT>ccG p.P85P SYT11_ENST00000539162.1_Intron NM_152280.4 NP_689493.3 Q9BT88 SYT11_HUMAN synaptotagmin XI 85 cell junction|synaptic vesicle membrane protein binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) AAGATGGTCCTGGGAGGGAAG 0.512000 35 48 0 0 1 0 0 TRIM38 10475 broad.mit.edu 37 6 25983800 25983800 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:25983800G>T ENST00000357085.3 + 8 1759 c.1283G>T c.(1282-1284)gGg>gTg p.G428V TRIM38_ENST00000349458.3_Missense_Mutation_p.G428V NM_006355.3 NP_006346.1 O00635 TRI38_HUMAN tripartite motif containing 38 428 B30.2/SPRY. positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 23 TTTTATAACGGGAATACTGGC 0.473000 25 52 1.85244e-09 2.2717e-09 1 1 0 MKL2 57496 broad.mit.edu 37 16 14341304 14341304 + Silent SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr16:14341304G>T ENST00000571589.1 + 12 2359 c.2187G>T c.(2185-2187)gtG>gtT p.V729V MKL2_ENST00000318282.5_Intron|MKL2_ENST00000341243.5_Silent_p.V718V|MKL2_ENST00000574045.1_Intron NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 718 Gln-rich. cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TGCTCCCAGTGTCCATCCAGG 0.557000 6 6 0.00116845 0.0012509 1 1 0 LAMA4 3910 broad.mit.edu 37 6 112462049 112462049 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:112462049C>A ENST00000230538.7 - 22 3286 c.2889G>T c.(2887-2889)aaG>aaT p.K963N LAMA4_ENST00000389463.4_Missense_Mutation_p.K956N|LAMA4_ENST00000424408.2_Missense_Mutation_p.K956N|LAMA4_ENST00000522006.1_Missense_Mutation_p.K956N NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 963 Laminin G-like 1. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) AAAATTCCCCCTTTTTAATGA 0.438000 22 32 6.44725e-10 7.98017e-10 1 1 0 ANO1 55107 broad.mit.edu 37 11 69949232 69949232 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:69949232G>C ENST00000355303.5 + 3 807 c.502G>C c.(502-504)Gag>Cag p.E168Q ANO1_ENST00000530676.1_Missense_Mutation_p.E52Q|ANO1_ENST00000538023.1_Missense_Mutation_p.E168Q|ANO1_ENST00000398543.2_Missense_Mutation_p.E52Q|ANO1_ENST00000316296.5_Missense_Mutation_p.E140Q NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 168 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 GCTGTGCAGAGAGGCCGAGTT 0.537000 10 9 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94044259 94044259 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr14:94044259G>C ENST00000553484.1 + 18 2437 c.2283G>C c.(2281-2283)caG>caC p.Q761H UNC79_ENST00000393151.2_Missense_Mutation_p.Q761H|UNC79_ENST00000555664.1_Missense_Mutation_p.Q761H|UNC79_ENST00000256339.4_Missense_Mutation_p.Q584H Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 761 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GTCCTTTCCAGAGTCCGTTTC 0.453000 6 234 0 0 1 0 0 HSPA4 3308 broad.mit.edu 37 5 132412462 132412462 + Silent SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr5:132412462C>T ENST00000304858.2 + 7 1069 c.780C>T c.(778-780)atC>atT p.I260I HSPA4_ENST00000504328.1_3'UTR NM_002154.3 NP_002145.3 P34932 HSP74_HUMAN heat shock 70kDa protein 4 260 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGTCCAAAATCCGTGCATTAT 0.368000 21 16 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240492374 240492374 + Splice_Site SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:240492374A>T ENST00000319653.9 + 9 4445 c.e9-1 FMN2_ENST00000545751.1_Splice_Site NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TTGTTTTTCTAGAGAGCACAG 0.368000 17 23 0 0 1 0 0 FMOD 2331 broad.mit.edu 37 1 203316799 203316799 + Silent SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:203316799C>T ENST00000354955.4 - 2 1063 c.600G>A c.(598-600)gaG>gaA p.E200E FMOD_ENST00000464898.1_5'UTR NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin 200 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) CCGTGAGGTTCTCCAGCCCCT 0.587000 30 90 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 323371 323371 + Missense_Mutation SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr10:323371A>T ENST00000280886.6 - 37 4652 c.4565T>A c.(4564-4566)aTc>aAc p.I1522N NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 1522 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GATGACGCCGATGTCCACCAC 0.592000 21 17 0 0 1 0 0 ANKLE1 126549 broad.mit.edu 37 19 17394588 17394588 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:17394588G>C ENST00000394458.3 + 5 1291 c.1015G>C c.(1015-1017)Gat>Cat p.D339H ANKLE1_ENST00000594072.1_Missense_Mutation_p.D328H|ANKLE1_ENST00000433424.2_Missense_Mutation_p.D393H|ANKLE1_ENST00000598347.1_Missense_Mutation_p.D339H|ANKLE1_ENST00000404085.1_Missense_Mutation_p.D361H NM_152363.4 NP_689576.4 Q8NAG6 ANKL1_HUMAN ankyrin repeat and LEM domain containing 1 339 nuclear envelope large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 GCTGACAGAGGATGAGGCAAG 0.612000 29 48 0 0 1 0 0 RIN3 79890 broad.mit.edu 37 14 93081801 93081801 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr14:93081801G>C ENST00000216487.7 + 4 576 c.417G>C c.(415-417)ttG>ttC p.L139F RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 139 SH2. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) TCTTCAGATTGATTGCGTTCT 0.537000 38 103 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113668483 113668483 + Silent SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr8:113668483G>T ENST00000297405.5 - 18 3148 c.2904C>A c.(2902-2904)acC>acA p.T968T CSMD3_ENST00000352409.3_Silent_p.T968T|CSMD3_ENST00000455883.2_Silent_p.T864T|CSMD3_ENST00000343508.3_Silent_p.T928T NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 968 CUB 5. 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 GGGGCACTTGGGTGCCATTGT 0.358000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 15 44 2.32078e-09 2.82646e-09 1 1 0 SLC35G3 146861 broad.mit.edu 37 17 33520477 33520477 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:33520477C>T ENST00000297307.5 - 1 935 c.850G>A c.(850-852)Gct>Act p.A284T NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 284 DUF6 2. integral to membrane p.A284T(1) TGTAGGACAGCGCACACCAGG 0.582000 62 85 0 0 1 0 0 KANSL3 55683 broad.mit.edu 37 2 97276534 97276534 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:97276534C>G ENST00000599854.1 - 11 1454 c.987G>C c.(985-987)atG>atC p.M329I KANSL3_ENST00000431828.1_Missense_Mutation_p.M416I|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Missense_Mutation_p.M210I|KANSL3_ENST00000441706.2_Missense_Mutation_p.M329I NM_001115016.2 NP_001108488.1 Q9P2N6 K1310_HUMAN KAT8 regulatory NSL complex subunit 3 416 GGAAGTCCTCCATGGCTTCAG 0.498000 40 71 0 0 1 0 0 ABCA5 23461 broad.mit.edu 37 17 67256516 67256516 + Missense_Mutation SNP T T A rs141602707 TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:67256516T>A ENST00000392676.3 - 27 3666 c.3602A>T c.(3601-3603)tAt>tTt p.Y1201F ABCA5_ENST00000588877.1_Missense_Mutation_p.Y1201F|ABCA5_ENST00000392677.2_Missense_Mutation_p.Y1202F Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 1201 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) CCATGGATTATAGGTGTCCAC 0.313000 14 10 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23510043 23510043 + Silent SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr5:23510043C>A ENST00000296682.3 + 4 390 c.208C>A c.(208-210)Cga>Aga p.R70R NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 70 KRAB-related. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.R70*(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CAGAGCCACTCGACCAGCTTT 0.483000 HNSCC(3;0.000094) 34 22 9.8876e-21 1.38166e-20 1 1 0 INPP5J 27124 broad.mit.edu 37 22 31521997 31521997 + Splice_Site SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr22:31521997G>T ENST00000331075.5 + 2 1320 c.e2+1 INPP5J_ENST00000405300.1_Splice_Site|INPP5J_ENST00000404390.3_Intron|INPP5J_ENST00000412277.2_Splice_Site|INPP5J_ENST00000400294.2_Splice_Site Q15735 PI5PA_HUMAN inositol polyphosphate-5-phosphatase J cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 12 CCGGCTTCCGGTGAGGGGGCC 0.597000 4 9 0.014758 0.0153959 1 1 0 BRINP3 339479 broad.mit.edu 37 1 190068141 190068141 + Silent SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:190068141G>C ENST00000367462.3 - 8 1539 c.1308C>G c.(1306-1308)acC>acG p.T436T FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.T334T NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 436 extracellular region p.T436T(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GCAGGAACGCGGTGCAGACCA 0.602000 11 23 0 0 1 0 0 KCNK2 3776 broad.mit.edu 37 1 215345468 215345468 + Silent SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:215345468C>T ENST00000444842.2 + 5 915 c.765C>T c.(763-765)gaC>gaT p.D255D KCNK2_ENST00000391894.2_Silent_p.D240D|KCNK2_ENST00000391895.2_Silent_p.D251D NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 255 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) GTGCCCTGGACGCCATTTATT 0.423000 20 47 0 0 1 0 0 OSGIN1 29948 broad.mit.edu 37 16 83983096 83983096 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr16:83983096G>A ENST00000343939.2 + 1 425 c.42G>A c.(40-42)atG>atA p.M14I OSGIN1_ENST00000361711.3_5'UTR|RP11-505K9.4_ENST00000561562.1_RNA Q9UJX0 OSGI1_HUMAN oxidative stress induced growth inhibitor 1 14 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 GGGGAAATATGCAGTGCAGAC 0.572000 20 39 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111695668 111695668 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:111695668G>A ENST00000435970.1 - 15 4472 c.3656C>T c.(3655-3657)tCt>tTt p.S1219F REV3L_ENST00000368805.1_Missense_Mutation_p.S1297F|REV3L_ENST00000358835.3_Missense_Mutation_p.S1297F|REV3L_ENST00000368802.3_Missense_Mutation_p.S1297F O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1297 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TAAGAAAGAAGAAAAGCAGCC 0.423000 DNA polymerases (catalytic subunits) 13 55 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21231606 21231606 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:21231606G>T ENST00000233242.1 - 26 8261 c.8134C>A c.(8134-8136)Cgt>Agt p.R2712S NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2712 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCTGGTAAACGGAAGTCTGGC 0.463000 44 100 3.54561e-26 5.07471e-26 1 1 0 DMD 1756 broad.mit.edu 37 X 32536238 32536238 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chrX:32536238C>A ENST00000357033.4 - 18 2385 c.2179G>T c.(2179-2181)Gat>Tat p.D727Y DMD_ENST00000378677.2_Missense_Mutation_p.D723Y|DMD_ENST00000288447.4_Missense_Mutation_p.D719Y NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 727 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCAGTTATATCAACATCCAAC 0.333000 13 6 7.93312e-07 9.09824e-07 1 1 0 OR2F1 26211 broad.mit.edu 37 7 143657796 143657796 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:143657796C>A ENST00000392899.1 + 1 770 c.733C>A c.(733-735)Ctc>Atc p.L245I NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) TGCCTCTCACCTCACAGTGGT 0.493000 24 15 1.10513e-12 1.43128e-12 1 1 0 DMBT1 1755 broad.mit.edu 37 10 124395562 124395562 + Missense_Mutation SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr10:124395562A>T ENST00000338354.3 + 50 6323 c.6217A>T c.(6217-6219)Agt>Tgt p.S2073C DMBT1_ENST00000344338.3_Missense_Mutation_p.S2063C|DMBT1_ENST00000359586.6_Missense_Mutation_p.S793C|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1445C|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1445C|DMBT1_ENST00000368955.3_Missense_Mutation_p.S2063C|DMBT1_ENST00000368909.3_Missense_Mutation_p.S2073C Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2073 CUB 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CCCCTACCGCAGTTCCCCTCT 0.498000 24 10 0 0 1 0 0 SERPINA6 866 broad.mit.edu 37 14 94776320 94776320 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr14:94776320G>T ENST00000341584.3 - 3 783 c.637C>A c.(637-639)Ctg>Atg p.L213M NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 213 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) GTGCTTGCCAGGTCAAAGGGC 0.532000 14 28 2.61681e-11 3.3163e-11 1 1 0 SYNE1 23345 broad.mit.edu 37 6 152469313 152469313 + Silent SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:152469313G>A ENST00000367255.5 - 137 25444 c.24843C>T c.(24841-24843)atC>atT p.I8281I SYNE1_ENST00000539504.1_Silent_p.I436I|SYNE1_ENST00000423061.1_Silent_p.I8210I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Silent_p.I8281I|SYNE1_ENST00000356820.4_Silent_p.I2805I|SYNE1_ENST00000341594.5_Silent_p.I7893I|SYNE1_ENST00000448038.1_Silent_p.I8210I|SYNE1_ENST00000354674.4_Silent_p.I436I NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8281 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) ACTCCAGGGGGATGGAGTCCA 0.597000 HNSCC(10;0.0054) 19 25 0 0 1 0 0 OR7A5 26659 broad.mit.edu 37 19 14938347 14938347 + Missense_Mutation SNP T T G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:14938347T>G ENST00000322301.3 - 2 794 c.707A>C c.(706-708)aAg>aCg p.K236T OR7A5_ENST00000594432.1_Missense_Mutation_p.K236T|OR7A5_ENST00000601611.1_Intron Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, member 5 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 GGAAAATGCCTTGTACTTCCC 0.488000 37 50 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30358468 30358468 + Missense_Mutation SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:30358468T>C ENST00000327564.7 + 5 2109 c.2048T>C c.(2047-2049)tTa>tCa p.L683S LRRC37B_ENST00000584368.1_Intron|LRRC37B_ENST00000394713.3_Intron|LRRC37B_ENST00000341671.7_Missense_Mutation_p.L656S|LRRC37B_ENST00000543378.2_Missense_Mutation_p.L574S Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 656 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) ATGCAGTTTTTACACAACTTG 0.348000 14 22 0 0 1 0 0 TRAM1L1 133022 broad.mit.edu 37 4 118006200 118006200 + Missense_Mutation SNP T T G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr4:118006200T>G ENST00000310754.4 - 1 536 c.350A>C c.(349-351)aAc>aCc p.N117T NM_152402.2 NP_689615.2 Q8N609 TR1L1_HUMAN translocation associated membrane protein 1-like 1 117 TLC. protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 GTTAAACTTGTTTTGTTTCGC 0.368000 4 32 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51664595 51664595 + Missense_Mutation SNP A A C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr8:51664595A>C ENST00000522124.1 + 18 1980 c.1319A>C c.(1318-1320)aAa>aCa p.K440T SNTG1_ENST00000518864.1_Missense_Mutation_p.K440T|SNTG1_ENST00000517473.1_Intron|SNTG1_ENST00000276467.5_Intron NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 440 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TCTCAGCTTAAAGGTTCTTCA 0.348000 28 94 0 0 1 0 0 OR4C13 283092 broad.mit.edu 37 11 49974682 49974682 + Silent SNP T T A rs145221317 TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:49974682T>A ENST00000555099.1 + 1 740 c.708T>A c.(706-708)tcT>tcA p.S236S NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 AAGCCCTCTCTACCTGTGTCT 0.463000 46 63 0 0 1 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142513555 142513555 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr5:142513555G>A ENST00000378004.3 + 19 2077 c.1722G>A c.(1720-1722)atG>atA p.M574I ARHGAP26_ENST00000274498.4_Missense_Mutation_p.M574I NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 574 actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGCCCGATATGCCTCTCACCA 0.542000 86 35 0 0 1 0 0 CRISP1 167 broad.mit.edu 37 6 49819761 49819761 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:49819761C>T ENST00000335847.4 - 3 249 c.148G>A c.(148-150)Gcc>Acc p.A50T CRISP1_ENST00000536021.1_Missense_Mutation_p.A50T|CRISP1_ENST00000507853.1_Missense_Mutation_p.A50T|CRISP1_ENST00000505118.1_Missense_Mutation_p.A50T|CRISP1_ENST00000329411.5_Missense_Mutation_p.A50T|CRISP1_ENST00000355791.2_Missense_Mutation_p.A50T NM_001131.2 NP_001122.2 P54107 CRIS1_HUMAN cysteine-rich secretory protein 1 50 fusion of sperm to egg plasma membrane extracellular space endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0358) CTCCTGAGGGCGTTGTGTATA 0.378000 20 41 0 0 1 0 0 BIRC7 79444 broad.mit.edu 37 20 61870933 61870933 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr20:61870933C>G ENST00000217169.3 + 6 1087 c.873C>G c.(871-873)agC>agG p.S291R BIRC7_ENST00000342412.6_Missense_Mutation_p.S273R|BIRC7_ENST00000395306.1_Missense_Mutation_p.S186R NM_139317.1 NP_647478.1 Q96CA5 BIRC7_HUMAN baculoviral IAP repeat containing 7 291 activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding endometrium(1)|kidney(1)|lung(9)|ovary(1) 12 all_cancers(38;2.72e-09) CCGTCCGCAGCCGCGTGCGCA 0.731000 7 24 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103387127 103387127 + Splice_Site SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:103387127C>A ENST00000358392.2 - 48 4008 c.3690_splice c.e48-1 p.G1231_splice COL11A1_ENST00000370096.3_Splice_Site_p.G1219_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G1103_splice|COL11A1_ENST00000353414.4_Splice_Site_p.G1180_splice NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1219 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCAGGTGGCCCCTGTAAGAGA 0.363000 17 33 5.03518e-11 6.36591e-11 1 1 0 DCTN1 1639 broad.mit.edu 37 2 74598237 74598237 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:74598237G>A ENST00000361874.3 - 9 1029 c.712C>T c.(712-714)Cgg>Tgg p.R238W DCTN1_ENST00000409240.1_Missense_Mutation_p.R201W|DCTN1_ENST00000409567.3_Missense_Mutation_p.R218W|DCTN1_ENST00000394003.3_Missense_Mutation_p.R231W|DCTN1_ENST00000407639.2_Missense_Mutation_p.R104W|DCTN1_ENST00000409438.1_Missense_Mutation_p.R104W|DCTN1_ENST00000409868.1_Missense_Mutation_p.R221W NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 238 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 TCTTCTGCCCGTTTCAGTCTC 0.552000 167 236 0 0 1 0 0 RNF175 285533 broad.mit.edu 37 4 154649432 154649432 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr4:154649432C>T ENST00000347063.4 - 4 700 c.328G>A c.(328-330)Ggg>Agg p.G110R RNF175_ENST00000274068.4_Intron|RNF175_ENST00000506505.1_Intron NM_173662.2 NP_775933.1 Q8N4F7 RN175_HUMAN ring finger protein 175 110 integral to membrane zinc ion binding breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 13 all_hematologic(180;0.093) Renal(120;0.118) GAGAACATCCCCCACATAGAC 0.463000 39 36 0 0 1 0 0 REXO1L1 254958 broad.mit.edu 37 8 86573789 86573789 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr8:86573789G>C ENST00000379010.2 - 1 1937 c.1938C>G c.(1936-1938)tgC>tgG p.C646W NM_172239.4 NP_758439.4 Q8IX06 GOR_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 646 cytoplasm|nucleus exonuclease activity|nucleic acid binding endometrium(1)|lung(4) 5 CCAGCTGCAGGCAGGCGCTTG 0.677000 5 108 0 0 1 0 0 CCDC54 84692 broad.mit.edu 37 3 107097252 107097252 + Missense_Mutation SNP A A C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr3:107097252A>C ENST00000261058.1 + 1 1065 c.818A>C c.(817-819)cAg>cCg p.Q273P NM_032600.2 NP_115989.1 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 273 NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 GAATTCATCCAGTGGCTTCTT 0.438000 37 15 0 0 1 0 0 CMIP 80790 broad.mit.edu 37 16 81711921 81711921 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr16:81711921G>T ENST00000537098.3 + 10 1148 c.1076G>T c.(1075-1077)tGc>tTc p.C359F CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Missense_Mutation_p.C265F|CMIP_ENST00000398040.4_Missense_Mutation_p.C206F NM_198390.2 NP_938204.2 Q8IY22 CMIP_HUMAN c-Maf inducing protein 325 cytoplasm|nucleus endometrium(5)|kidney(1)|lung(7) 13 CGGAACGGCTGCCAGCAGCCG 0.637000 7 15 1.06961e-07 1.25656e-07 1 1 0 OR8H2 390151 broad.mit.edu 37 11 55872885 55872885 + Missense_Mutation SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:55872885T>C ENST00000313503.1 + 1 367 c.367T>C c.(367-369)Tat>Cat p.Y123H NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 123 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) CCATGATCGCTATGCAGCGAT 0.463000 HNSCC(53;0.14) 52 118 0 0 1 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140724669 140724669 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr5:140724669C>T ENST00000253812.6 + 1 1069 c.1069C>T c.(1069-1071)Cca>Tca p.P357S PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGCTCAGTCCCAGAAGAGGG 0.473000 29 10 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56704107 56704107 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:56704107C>G ENST00000586855.2 - 2 628 c.315G>C c.(313-315)aaG>aaC p.K105N ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.K105N A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 105 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CACCGTTCACCTTGACTAAGA 0.552000 16 22 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123842196 123842196 + Missense_Mutation SNP G G T rs115572080 TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr10:123842196G>T ENST00000369005.1 + 4 521 c.181G>T c.(181-183)Gct>Tct p.A61S TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A61S|TACC2_ENST00000515273.1_Missense_Mutation_p.A61S|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.A61S|TACC2_ENST00000453444.2_Missense_Mutation_p.A61S NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 61 microtubule organizing center|nucleus nuclear hormone receptor binding p.A61T(1) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTTCTGCACCGCTTCTGAGAG 0.542000 34 39 1.22384e-17 1.64938e-17 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25430593 25430593 + RNA SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr15:25430593G>C ENST00000424208.1 + 0 454 NR_003305.1 CCTCCAGATGGTGAGCACAGA 0.592000 7 6 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 83173017 83173017 + Nonstop_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:83173017C>G ENST00000531015.1 - 21 2459 c.2435G>C c.(2434-2436)tGa>tCa p.*812S DLG2_ENST00000376106.3_Intron|DLG2_ENST00000426717.2_Intron|DLG2_ENST00000404783.3_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000280241.8_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000330014.6_Intron|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000524982.1_Intron Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 0 Guanylate kinase-like. 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) TCCCCTTTCTCACACTACCAG 0.413000 10 33 0 0 1 0 0 LINC00207 388910 broad.mit.edu 37 22 44966397 44966397 + RNA SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr22:44966397G>C ENST00000605505.1 + 0 175 NR_028409.1 lung(3) 3 TTAAAGAGGAGAATGGATGGT 0.493000 5 11 0 0 1 0 0 DRD2 1813 broad.mit.edu 37 11 113295255 113295255 + Missense_Mutation SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:113295255A>T ENST00000362072.3 - 2 463 c.119T>A c.(118-120)cTg>cAg p.L40Q DRD2_ENST00000355319.2_Missense_Mutation_p.L40Q|DRD2_ENST00000346454.3_Missense_Mutation_p.L40Q|DRD2_ENST00000542968.1_Missense_Mutation_p.L40Q|DRD2_ENST00000544518.1_Missense_Mutation_p.L40Q|DRD2_ENST00000538967.1_Missense_Mutation_p.L40Q NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 40 L -> R (in Ref. 7; AAB26819). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) CAGGGTGAGCAGTGTGGCATA 0.587000 23 53 0 0 1 0 0 CPO 130749 broad.mit.edu 37 2 207814372 207814372 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:207814372G>C ENST00000272852.3 + 2 146 c.100G>C c.(100-102)Gac>Cac p.D34H NM_173077.2 NP_775100.1 Q8IVL8 CBPO_HUMAN carboxypeptidase O 34 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142) AGAGATTGTGGACAAGTCAGT 0.498000 22 12 0 0 1 0 0 LCP1 3936 broad.mit.edu 37 13 46701752 46701752 + Missense_Mutation SNP T T G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr13:46701752T>G ENST00000398576.2 - 19 2246 c.1858A>C c.(1858-1860)Atg>Ctg p.M620L LCP1_ENST00000323076.2_Missense_Mutation_p.M620L|LCP1_ENST00000435666.2_Missense_Mutation_p.M189L P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 620 Actin-binding 2.|CH 4. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) CCTTTCCCCATGAGGCAGGCA 0.557000 T BCL6 NHL 42 22 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62028832 62028832 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:62028832C>G ENST00000435607.1 - 14 2881 c.2805G>C c.(2803-2805)atG>atC p.M935I SCN4A_ENST00000578147.1_Missense_Mutation_p.M935I NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 935 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) CCTCGGTGGGCATCTCCAGGT 0.602000 22 22 0 0 1 0 0 TCP10 6953 broad.mit.edu 37 6 167786681 167786681 + Silent SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:167786681G>A ENST00000397829.4 - 8 1124 c.957C>T c.(955-957)ccC>ccT p.P319P TCP10_ENST00000366827.2_Intron NM_004610.3 NP_004601.3 Q12799 TCP10_HUMAN t-complex 10 346 cytosol p.P319P(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6) 18 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) CCTGTCTGGAGGGAGCGGCGT 0.537000 25 70 0 0 1 0 0 BSX 390259 broad.mit.edu 37 11 122848358 122848358 + Nonstop_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:122848358C>A ENST00000343035.2 - 3 749 c.701G>T c.(700-702)tGa>tTa p.*234L NM_001098169.1 NP_001091639.1 Q3C1V8 BSH_HUMAN brain-specific homeobox 0 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 10 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) CCTGGCGGCTCAGAGCACGTG 0.701000 12 29 4.3838e-07 5.07146e-07 1 1 0 CSPG4 1464 broad.mit.edu 37 15 75968495 75968495 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr15:75968495C>G ENST00000308508.5 - 10 6457 c.6365G>C c.(6364-6366)aGg>aCg p.R2122T NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 2122 Cysteine-containing.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 CAGCCCCAGCCTCCCGTCCTC 0.736000 4 4 0 0 1 0 0 KCNK13 56659 broad.mit.edu 37 14 90651103 90651103 + Missense_Mutation SNP A A G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr14:90651103A>G ENST00000282146.4 + 2 1424 c.983A>G c.(982-984)gAg>gGg p.E328G NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 328 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) ATCTCCATAGAGACAGACGGG 0.627000 30 68 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8825951 8825951 + Silent SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr18:8825951A>T ENST00000359865.3 + 15 4585 c.4443A>T c.(4441-4443)ccA>ccT p.P1481P SOGA2_ENST00000306329.11_Silent_p.P1800P|SOGA2_ENST00000518815.1_Silent_p.P806P|SOGA2_ENST00000306285.7_Silent_p.P806P|SOGA2_ENST00000400050.3_Silent_p.P1440P|SOGA2_ENST00000517570.1_Silent_p.P1440P NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1791 AGCTGGGCCCAGGCCAGGAAA 0.662000 33 13 0 0 1 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28296890 28296890 + Missense_Mutation SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr21:28296890T>C ENST00000284987.5 - 8 2396 c.2275A>G c.(2275-2277)Aaa>Gaa p.K759E AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 759 Spacer. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 TGTCGAACTTTTATGTGGGTT 0.438000 16 53 0 0 1 0 0 EFCAB13 124989 broad.mit.edu 37 17 45490284 45490284 + Splice_Site SNP T T A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:45490284T>A ENST00000331493.2 + 22 2833 c.e22+2 CTD-2026D20.2_ENST00000523101.1_RNA|EFCAB13_ENST00000517484.1_Splice_Site NM_152347.4 NP_689560.3 EF-hand calcium binding domain 13 ACGTCAGTGGTGAGCATTTTT 0.348000 11 18 0 0 1 0 0 C1orf112 55732 broad.mit.edu 37 1 169798416 169798416 + Nonsense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:169798416C>G ENST00000413811.2 + 11 1158 c.923C>G c.(922-924)tCa>tGa p.S308* C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Silent_p.L380L|C1orf112_ENST00000286031.6_Silent_p.L380L Q9NSG2 CA112_HUMAN chromosome 1 open reading frame 112 337 p.L380L(1) breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1) 34 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TATCTCTACTCAAAGCCGTTT 0.368000 4 23 0 0 1 0 0 GH2 2689 broad.mit.edu 37 17 61958001 61958001 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:61958001G>C ENST00000332800.7 - 4 720 c.587C>G c.(586-588)cCc>cGc p.P196R GH2_ENST00000423893.2_Intron|GH2_ENST00000449787.2_Intron|GH2_ENST00000456543.2_Intron NM_002059.4|NM_022557.3|NM_022558.3 NP_002050.1|NP_072051.1|NP_072052.1 P01242 SOM2_HUMAN growth hormone 2 0 extracellular region hormone activity breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 ATTCACGAGGGGAAATGAAGA 0.567000 84 59 0 0 1 0 0 ARID5B 84159 broad.mit.edu 37 10 63829551 63829551 + Silent SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr10:63829551T>C ENST00000279873.7 + 8 1604 c.1194T>C c.(1192-1194)taT>taC p.Y398Y ARID5B_ENST00000309334.5_Silent_p.Y155Y NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 398 ARID. liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) GCAGACATTATGAAAGGTAAG 0.418000 4 15 0 0 1 0 0 INPP5J 27124 broad.mit.edu 37 22 31521996 31521996 + Splice_Site SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr22:31521996G>T ENST00000331075.5 + 2 1320 c.1271_splice c.e2+1 p.R424_splice INPP5J_ENST00000405300.1_Splice_Site_p.R57_splice|INPP5J_ENST00000404390.3_Intron|INPP5J_ENST00000412277.2_Splice_Site_p.R357_splice|INPP5J_ENST00000400294.2_Splice_Site_p.R57_splice Q15735 PI5PA_HUMAN inositol polyphosphate-5-phosphatase J 424 cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 12 CCCGGCTTCCGGTGAGGGGGC 0.602000 5 8 0.0215528 0.0223526 1 1 0 ZAP70 7535 broad.mit.edu 37 2 98341614 98341614 + Silent SNP T T A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:98341614T>A ENST00000264972.5 + 4 677 c.462T>A c.(460-462)gcT>gcA p.A154A ZAP70_ENST00000442208.1_Silent_p.A28A|ZAP70_ENST00000463643.1_3'UTR NM_001079.3 NP_001070.2 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa 154 Interdomain A. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 AGCTCATTGCTACGACGGCCC 0.642000 23 29 0 0 1 0 0 SATL1 340562 broad.mit.edu 37 X 84363828 84363828 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chrX:84363828C>G ENST00000509231.1 - 1 226 c.147G>C c.(145-147)atG>atC p.M49I SATL1_ENST00000395409.3_5'UTR|SATL1_ENST00000332921.5_5'UTR Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 104 Gln-rich. N-acetyltransferase activity NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1) 29 TTGGTTGTTTCATGTCCACTT 0.453000 OREG0019887 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 9 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11514042 11514042 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:11514042C>A ENST00000423059.3 - 8 2422 c.2171G>T c.(2170-2172)gGg>gTg p.G724V AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 724 TSP type-1 7. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GGAGGCCTCCCCATTCCAAGT 0.522000 HNSCC(18;0.044) 5 60 0.248553 0.249965 1 1 0 BBS10 79738 broad.mit.edu 37 12 76740795 76740795 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr12:76740795C>A ENST00000393262.3 - 2 1053 c.970G>T c.(970-972)Ggg>Tgg p.G324W NM_024685.3 NP_078961.3 Q8TAM1 BBS10_HUMAN Bardet-Biedl syndrome 10 324 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1) 19 CCATTCACCCCTGCATAATAA 0.368000 Bardet-Biedl syndrome 11 22 3.07112e-06 3.46971e-06 1 1 0 SPATA31A6 389730 broad.mit.edu 37 9 43624937 43624937 + Silent SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr9:43624937G>A ENST00000332857.6 - 4 3778 c.3750C>T c.(3748-3750)ttC>ttT p.F1250F NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 GTTCTGAGTAGAAGAGGTGCC 0.507000 144 248 0 0 1 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50189495 50189495 + Silent SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr12:50189495C>G ENST00000335999.6 - 8 2349 c.2148G>C c.(2146-2148)ctG>ctC p.L716L NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 712 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 CTAGCTGCTCCAGTGGCCTGT 0.647000 7 3 0 0 1 0 0 PPIL3 53938 broad.mit.edu 37 2 201747114 201747114 + Missense_Mutation SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:201747114T>C ENST00000392283.4 - 4 391 c.123A>G c.(121-123)atA>atG p.I41M PPIL3_ENST00000465823.1_Intron|PPIL3_ENST00000409361.1_Intron|PPIL3_ENST00000409449.1_Intron|PPIL3_ENST00000286175.8_Intron NM_130906.2 NP_570981.1 Q9H2H8 PPIL3_HUMAN peptidylprolyl isomerase (cyclophilin)-like 3 41 PPIase cyclophilin-type. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity|protein binding endometrium(1)|lung(2) 3 TCCTATGAAATATACAGCCAT 0.358000 45 46 0 0 1 0 0 SLC1A6 6511 broad.mit.edu 37 19 15072888 15072888 + Silent SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:15072888G>A ENST00000598504.1 - 8 2220 c.861C>T c.(859-861)caC>caT p.H287H SLC1A6_ENST00000600144.1_Silent_p.H287H|SLC1A6_ENST00000221742.3_Silent_p.H287H|SLC1A6_ENST00000544886.2_Silent_p.H287H|SLC1A6_ENST00000430939.2_Silent_p.H223H NM_001272087.1 NP_001259016.1 P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 287 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) CTCTGCCCTTGTGTTTCATGC 0.577000 34 62 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 132052173 132052173 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr8:132052173G>A ENST00000286355.5 - 1 2499 c.407C>T c.(406-408)cCt>cTt p.P136L ADCY8_ENST00000377928.3_Missense_Mutation_p.P136L NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 136 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CGAGTTGCTAGGGGCACAGTC 0.612000 HNSCC(32;0.087) 6 6 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61935290 61935290 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr16:61935290C>A ENST00000577390.1 - 3 1294 c.340G>T c.(340-342)Gta>Tta p.V114L CDH8_ENST00000299345.6_Missense_Mutation_p.V114L|CDH8_ENST00000584337.1_Missense_Mutation_p.V114L|CDH8_ENST00000577730.1_Missense_Mutation_p.V114L NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 114 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TCTCCAGTTACATCATTTATT 0.423000 27 33 4.72057e-08 5.58268e-08 1 1 0 CAPZA3 93661 broad.mit.edu 37 12 18891436 18891436 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr12:18891436G>T ENST00000317658.3 + 1 392 c.234G>T c.(232-234)atG>atT p.M78I NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 78 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) ACAATGTAATGGGCGACTACC 0.423000 22 37 1.28384e-07 1.50158e-07 1 1 0 EGR2 1959 broad.mit.edu 37 10 64573804 64573804 + Silent SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr10:64573804G>A ENST00000242480.3 - 2 919 c.594C>T c.(592-594)tcC>tcT p.S198S EGR2_ENST00000439032.1_Silent_p.S198S|EGR2_ENST00000411732.1_Silent_p.S148S NM_000399.3|NM_001136177.1 NP_000390.2|NP_001129649.1 P11161 EGR2_HUMAN early growth response 2 198 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 36 Prostate(12;0.0297)|all_hematologic(501;0.228) AGGCCAGAGAGGAAGAGGTGG 0.592000 62 12 0 0 1 0 0 ASB8 140461 broad.mit.edu 37 12 48543613 48543613 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr12:48543613G>A ENST00000317697.3 - 4 572 c.403C>T c.(403-405)Cgg>Tgg p.R135W ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.R135W|ASB8_ENST00000535055.1_3'UTR|ASB8_ENST00000539528.1_3'UTR NM_024095.3 NP_077000.1 Q9H765 ASB8_HUMAN ankyrin repeat and SOCS box containing 8 135 intracellular signal transduction cytoplasm|nucleus breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1) 11 AGGAGAGCCCGCACACACTCA 0.527000 24 24 0 0 1 0 0 IL9R 3581 broad.mit.edu 37 X 155234999 155234999 + Missense_Mutation SNP T T A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chrX:155234999T>A ENST00000424344.3 + 7 940 c.573T>A c.(571-573)ttT>ttA p.F191L IL9R_ENST00000244174.5_Missense_Mutation_p.F212L|IL9R_ENST00000540897.1_Missense_Mutation_p.F237L|IL9R_ENST00000369423.2_Missense_Mutation_p.F247L Q01113 IL9R_HUMAN interleukin 9 receptor 212 Fibronectin type-III. cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TTGAAGCCTTTGAGCTGGACC 0.587000 14 8 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113668482 113668482 + Nonsense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr8:113668482G>A ENST00000297405.5 - 18 3149 c.2905C>T c.(2905-2907)Caa>Taa p.Q969* CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Q969*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q865*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q929* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 969 CUB 5. 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 TGGGGCACTTGGGTGCCATTG 0.358000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 15 44 0 0 1 0 0 OR5F1 338674 broad.mit.edu 37 11 55761628 55761628 + Silent SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:55761628G>C ENST00000278409.1 - 1 473 c.474C>G c.(472-474)gtC>gtG p.V158V NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) GGCTTGTGTTGACCATGAAGT 0.498000 22 37 0 0 1 0 0 RDX 5962 broad.mit.edu 37 11 110104001 110104001 + Silent SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:110104001G>C ENST00000343115.4 - 13 1867 c.1548C>G c.(1546-1548)acC>acG p.T516T RDX_ENST00000544551.1_Silent_p.T380T|RDX_ENST00000528900.1_Silent_p.T169T|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Silent_p.T516T|RDX_ENST00000528498.1_Silent_p.T516T NM_001260494.1|NM_002906.3 NP_001247423.1|NP_002897.1 P35241 RADI_HUMAN radixin 516 Glu-rich. actin filament capping cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane actin binding p.T516T(1) endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 18 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) TCTGTGTTTCGGTTACACGTT 0.363000 59 91 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168106940 168106940 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:168106940C>G ENST00000409195.1 + 9 9127 c.9038C>G c.(9037-9039)aCa>aGa p.T3013R XIRP2_ENST00000295237.9_Missense_Mutation_p.T3013R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2791R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2838 T -> A (in Ref. 8; CAD91154). actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GAAGAAATAACACATATTAAA 0.348000 28 54 0 0 1 0 0 PPHLN1 51535 broad.mit.edu 37 12 42745757 42745757 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr12:42745757G>C ENST00000395568.2 + 3 227 c.143G>C c.(142-144)aGc>aCc p.S48T PPHLN1_ENST00000449194.2_Missense_Mutation_p.S48T|PPHLN1_ENST00000552761.1_Intron|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000358314.7_Missense_Mutation_p.S48T|PPHLN1_ENST00000432191.2_Intron|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000549190.1_Missense_Mutation_p.S66T|PPHLN1_ENST00000395580.3_Missense_Mutation_p.S55T|PPHLN1_ENST00000337898.6_Intron NM_016488.6 NP_057572.5 Q8NEY8 PPHLN_HUMAN periphilin 1 48 keratinization cytoplasm|nucleus breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 16 all_cancers(12;0.00049)|Breast(8;0.165) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0875) GGTGAAGGAAGCTACAATAGA 0.403000 20 18 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41556727 41556727 + Splice_Site SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr22:41556727G>T ENST00000263253.7 + 20 4890 c.e20+1 NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.Y1198_L1243del(1)|p.?(1) NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 AGCCTCAAACGTAAGTAACTG 0.408000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 5 22 0.000602214 0.00064732 1 1 0 DYNC1I1 1780 broad.mit.edu 37 7 95726843 95726843 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:95726843G>C ENST00000324972.6 + 17 2069 c.1876G>C c.(1876-1878)Gtg>Ctg p.V626L DYNC1I1_ENST00000457059.1_Missense_Mutation_p.V609L|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.V606L|DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.V589L|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.V609L NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 626 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) CAGGACCCTTGTGGAAATTCG 0.483000 21 31 0 0 1 0 0 PARP15 165631 broad.mit.edu 37 3 122345754 122345754 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr3:122345754C>A ENST00000464300.2 + 9 1378 c.1312C>A c.(1312-1314)Cca>Aca p.P438T PARP15_ENST00000483793.1_Intron|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000310366.4_Missense_Mutation_p.P204T|PARP15_ENST00000493645.1_Intron NM_001113523.1 NP_001106995.1 Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 416 Macro 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0531) ACATTCCACCCCATCATTAAA 0.348000 17 22 1.99824e-07 2.32689e-07 1 1 0 USP6NL 9712 broad.mit.edu 37 10 11523903 11523903 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr10:11523903G>A ENST00000379237.1 - 14 1338 c.944C>T c.(943-945)tCc>tTc p.S315F USP6NL_ENST00000277575.5_Missense_Mutation_p.S332F NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like 315 intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 TTCTTCCATGGACAATTTCAT 0.328000 7 6 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90502408 90502408 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr9:90502408G>C ENST00000325643.5 + 4 3072 c.3006G>C c.(3004-3006)gaG>gaC p.E1002D NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CATGGCTTGAGAGTGAGAGCA 0.587000 24 28 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171076876 171076876 + Missense_Mutation SNP A A G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:171076876A>G ENST00000367755.4 + 4 493 c.382A>G c.(382-384)Acc>Gcc p.T128A FMO3_ENST00000392085.2_Missense_Mutation_p.T128A|FMO3_ENST00000538429.1_Missense_Mutation_p.T65A|FMO3_ENST00000542847.1_Missense_Mutation_p.T108A NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 128 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GTGGGATGTTACCACTGAAAG 0.398000 29 29 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41615637 41615637 + Missense_Mutation SNP A A G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr4:41615637A>G ENST00000313860.7 + 7 695 c.641A>G c.(640-642)cAg>cGg p.Q214R LIMCH1_ENST00000514096.1_Missense_Mutation_p.Q67R|LIMCH1_ENST00000396595.3_Missense_Mutation_p.Q60R|LIMCH1_ENST00000509454.1_Missense_Mutation_p.Q62R|LIMCH1_ENST00000511496.1_Missense_Mutation_p.Q55R|LIMCH1_ENST00000512632.1_Missense_Mutation_p.Q214R|LIMCH1_ENST00000509277.1_Missense_Mutation_p.Q60R|LIMCH1_ENST00000509638.1_Missense_Mutation_p.Q55R|LIMCH1_ENST00000503057.1_Missense_Mutation_p.Q55R|LIMCH1_ENST00000512820.1_Missense_Mutation_p.Q214R|LIMCH1_ENST00000512946.1_Missense_Mutation_p.Q214R|LIMCH1_ENST00000513024.1_Missense_Mutation_p.Q55R|LIMCH1_ENST00000508501.1_Missense_Mutation_p.Q214R|LIMCH1_ENST00000381753.4_Missense_Mutation_p.Q60R NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 214 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 CGCTCTCGGCAGACGCCTTCA 0.537000 13 29 0 0 1 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90572294 90572294 + RNA SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:90572294A>T ENST00000551025.1 + 0 2303 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) GGACATCCTGAGAAATATGGT 0.398000 70 92 0 0 1 0 0 IRF2BP1 26145 broad.mit.edu 37 19 46388991 46388991 + Silent SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:46388991C>A ENST00000302165.3 - 1 385 c.42G>T c.(40-42)ctG>ctT p.L14L NM_015649.1 NP_056464.1 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 1 14 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(1)|kidney(1)|lung(2) 4 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) GCAGGTCGCACAGGTAGCACC 0.716000 3 22 1 1 1 1 0 PSG8 440533 broad.mit.edu 37 19 43262387 43262387 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:43262387C>A ENST00000404209.4 - 3 572 c.476G>T c.(475-477)aGg>aTg p.R159M PSG8_ENST00000406636.3_Missense_Mutation_p.R37M|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000306511.4_Missense_Mutation_p.R159M|PSG8_ENST00000401467.2_Intron NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 159 Ig-like C2-type 1. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) CATGGCCTCCCTGGGGTTTAA 0.537000 97 132 1.39521e-32 2.04092e-32 1 1 0 NMRK2 27231 broad.mit.edu 37 19 3942091 3942091 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:3942091C>A ENST00000168977.2 + 8 803 c.513C>A c.(511-513)gaC>gaA p.D171E NMRK2_ENST00000593949.1_Missense_Mutation_p.D176E|NMRK2_ENST00000599576.1_Silent_p.R103R NM_170678.2 NP_733778.1 nicotinamide riboside kinase 2 TCTACCTGGACGGCATGAAGT 0.637000 23 15 9.80776e-20 1.35271e-19 1 1 0 TBX15 6913 broad.mit.edu 37 1 119474355 119474355 + Silent SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:119474355A>T ENST00000369429.3 - 2 315 c.306T>A c.(304-306)ccT>ccA p.P102P TBX15_ENST00000207157.3_5'UTR Q96SF7 TBX15_HUMAN T-box 15 102 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) CAGCAGGCACAGGGCCTGCAG 0.532000 13 8 0 0 1 0 0 COQ5 84274 broad.mit.edu 37 12 120947830 120947830 + Missense_Mutation SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr12:120947830T>C ENST00000288532.6 - 4 711 c.671A>G c.(670-672)cAc>cGc p.H224R COQ5_ENST00000445328.2_Missense_Mutation_p.H150R NM_032314.3 NP_115690.3 Q5HYK3 COQ5_HUMAN coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 224 ubiquinone biosynthetic process mitochondrion methyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3) 20 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTGATCAATGTGTGTGACATT 0.433000 22 32 0 0 1 0 0 VARS 7407 broad.mit.edu 37 6 31747892 31747892 + Silent SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:31747892G>A ENST00000375663.3 - 26 3404 c.2964C>T c.(2962-2964)cgC>cgT p.R988R NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 988 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) TCAGGCGGCTGCGGATCCAGC 0.662000 26 37 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179644007 179644007 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:179644007C>A ENST00000589042.1 - 23 4136 c.3912G>T c.(3910-3912)gaG>gaT p.E1304D TTN_ENST00000359218.5_Missense_Mutation_p.E1258D|TTN_ENST00000342175.6_Missense_Mutation_p.E1258D|TTN_ENST00000591111.1_Missense_Mutation_p.E1304D|TTN_ENST00000460472.2_Missense_Mutation_p.E1258D|TTN_ENST00000342992.6_Missense_Mutation_p.E1304D|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E1304D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1304 Ig-like 5. 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) CACCCATCCCCTCAAGAATTC 0.348000 13 26 0.000151284 0.000165975 1 1 0 MDN1 23195 broad.mit.edu 37 6 90453420 90453420 + Missense_Mutation SNP T T A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:90453420T>A ENST00000369393.3 - 30 4307 c.4192A>T c.(4192-4194)Act>Tct p.T1398S MDN1_ENST00000428876.1_Missense_Mutation_p.T1398S Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1398 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TGACAGATAGTAGTTTTCCCA 0.463000 28 61 0 0 1 0 0 RAB3C 115827 broad.mit.edu 37 5 58120944 58120944 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr5:58120944C>T ENST00000282878.4 + 4 620 c.451C>T c.(451-453)Cgg>Tgg p.R151W NM_138453.2 NP_612462.1 Q96E17 RAB3C_HUMAN RAB3C, member RAS oncogene family 151 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1) 21 all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664) OV - Ovarian serous cystadenocarcinoma(10;1.8e-34) GGAAGACGAGCGGGTCATCTC 0.363000 25 4 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32429885 32429885 + Missense_Mutation SNP A A C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chrX:32429885A>C ENST00000357033.4 - 30 4423 c.4217T>G c.(4216-4218)aTg>aGg p.M1406R DMD_ENST00000378677.2_Missense_Mutation_p.M1402R NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1406 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTCCTGAGGCATTTGAGCTGC 0.403000 16 14 0 0 1 0 0 MX1 4599 broad.mit.edu 37 21 42813696 42813696 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr21:42813696G>T ENST00000398600.2 + 12 1809 c.784G>T c.(784-786)Gac>Tac p.D262Y MX1_ENST00000455164.2_Missense_Mutation_p.D262Y|MX1_ENST00000398598.3_Missense_Mutation_p.D262Y|MX1_ENST00000288383.6_Missense_Mutation_p.D239Y|AP001610.5_ENST00000411427.1_RNA NM_001144925.1 NP_001138397.1 P20591 MX1_HUMAN myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) 262 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) CAAGGTTGTGGACGTGGTGCG 0.557000 16 72 2.32078e-09 2.82646e-09 1 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125192192 125192192 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:125192192G>A ENST00000431078.1 + 5 1025 c.661G>A c.(661-663)Gga>Aga p.G221R NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 221 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CCTGTTCCATGGAGAAGGTCA 0.507000 19 20 0 0 1 0 0 CHST6 4166 broad.mit.edu 37 16 75512696 75512696 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr16:75512696C>T ENST00000332272.4 - 3 1210 c.1031G>A c.(1030-1032)cGc>cAc p.R344H RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.R344H NM_021615.4 NP_067628.1 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 344 keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TTCCTGCACGCGGCGGATCTT 0.657000 28 46 0 0 1 0 0 CLCN5 1184 broad.mit.edu 37 X 49855411 49855411 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chrX:49855411C>G ENST00000376088.3 + 14 2869 c.2228C>G c.(2227-2229)aCt>aGt p.T743S CLCN5_ENST00000376108.3_Missense_Mutation_p.T673S|CLCN5_ENST00000376091.3_Missense_Mutation_p.T743S|CLCN5_ENST00000307367.2_Missense_Mutation_p.T673S NM_001127898.1|NM_001127899.1 NP_001121370.1|NP_001121371.1 P51795 CLCN5_HUMAN chloride channel, voltage-sensitive 5 673 excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) CCACCATACACTCCACCCACT 0.463000 11 8 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13776571 13776571 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr5:13776571C>A ENST00000265104.4 - 55 9454 c.9350G>T c.(9349-9351)tGg>tTg p.W3117L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3117 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ATCTTTGGGCCATCGGCTGAA 0.458000 Kartagener syndrome 98 77 1.26289e-39 1.8576e-39 1 1 0 CPZ 8532 broad.mit.edu 37 4 8602934 8602934 + Translation_Start_Site SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr4:8602934C>A ENST00000382480.2 + 0 595 CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000360986.4_Nonsense_Mutation_p.S69*|CPZ_ENST00000315782.6_Nonsense_Mutation_p.S58* NM_001014448.2 NP_001014448.1 Q66K79 CBPZ_HUMAN carboxypeptidase Z proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CAGCACCGGTCATGGGAGGTG 0.647000 8 35 1.76689e-08 2.11788e-08 1 1 0 GRSF1 2926 broad.mit.edu 37 4 71691068 71691068 + Silent SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr4:71691068G>A ENST00000254799.6 - 8 1455 c.1338C>T c.(1336-1338)caC>caT p.H446H GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Silent_p.H284H|GRSF1_ENST00000545193.1_Silent_p.H328H|GRSF1_ENST00000439371.1_Silent_p.H284H NM_002092.3 NP_002083.3 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 446 RRM 3. mRNA polyadenylation mRNA binding|nucleotide binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2) 17 all_hematologic(202;0.21) Lung(101;0.235) GGGTCTCAAAGTGCACATCAG 0.478000 11 12 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64603708 64603708 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:64603708C>T ENST00000342711.5 - 13 1548 c.1549G>A c.(1549-1551)Ggg>Agg p.G517R NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 517 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 TCCTGCTGCCCCTGGGCCCTG 0.701000 OREG0004017 type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 8 9 0 0 1 0 0 TEX13A 56157 broad.mit.edu 37 X 104465006 104465006 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chrX:104465006C>A ENST00000372578.3 - 2 187 c.76G>T c.(76-78)Gcc>Tcc p.A26S IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.A26S|TEX13A_ENST00000372575.1_Missense_Mutation_p.A26S|IL1RAPL2_ENST00000372582.1_Intron NM_031274.3 NP_112564.1 Q9BXU3 TX13A_HUMAN testis expressed 13A 26 intracellular zinc ion binding large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 GTGTGCCTGGCCATTTTCTCG 0.542000 18 8 3.51602e-12 4.50967e-12 1 1 0 PCDH1 5097 broad.mit.edu 37 5 141248204 141248204 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr5:141248204G>T ENST00000287008.3 - 2 980 c.833C>A c.(832-834)cCc>cAc p.P278H PCDH1_ENST00000503492.1_Missense_Mutation_p.P278H|PCDH1_ENST00000456271.1_Missense_Mutation_p.P266H|PCDH1_ENST00000536585.1_Missense_Mutation_p.P256H|PCDH1_ENST00000394536.3_Missense_Mutation_p.P278H NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 278 Cadherin 2. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) CTCAAACTTGGGGGCGTTGTC 0.607000 18 7 3.41278e-10 4.25396e-10 1 1 0 CCDC88C 440193 broad.mit.edu 37 14 91826003 91826003 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr14:91826003C>A ENST00000389857.6 - 4 409 c.323G>T c.(322-324)gGc>gTc p.G108V NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 108 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TGGGTCTCTGCCAATCATCAA 0.527000 5 9 0.184627 0.186737 1 1 0 PIEZO2 63895 broad.mit.edu 37 18 10689740 10689740 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr18:10689740G>T ENST00000302079.6 - 45 7070 c.7071C>A c.(7069-7071)gaC>gaA p.D2357E PIEZO2_ENST00000285141.4_Missense_Mutation_p.D212E|PIEZO2_ENST00000580640.1_Missense_Mutation_p.D2382E|PIEZO2_ENST00000538948.1_Missense_Mutation_p.D314E|PIEZO2_ENST00000503781.3_Missense_Mutation_p.D2357E Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2357 integral to membrane ion channel activity TCAAAGTTGTGTCCGTCCACA 0.537000 39 29 1.60099e-16 2.13599e-16 1 1 0 ZNF106 64397 broad.mit.edu 37 15 42742624 42742624 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr15:42742624C>G ENST00000263805.4 - 2 2103 c.1777G>C c.(1777-1779)Gag>Cag p.E593Q ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 TCAGATGTCTCTCCATCACTT 0.403000 7 99 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64973285 64973285 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr10:64973285G>A ENST00000399262.2 - 8 2860 c.2642C>T c.(2641-2643)tCt>tTt p.S881F JMJD1C_ENST00000402544.1_Missense_Mutation_p.S662F|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S662F|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S699F NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 881 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) AACCCACTTAGAAGAAGGCAA 0.393000 30 27 0 0 1 0 0 RASGEF1B 153020 broad.mit.edu 37 4 82366944 82366944 + Nonsense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr4:82366944C>A ENST00000509081.1 - 7 996 c.775G>T c.(775-777)Gaa>Taa p.E259* RASGEF1B_ENST00000264400.2_Nonsense_Mutation_p.E260*|RASGEF1B_ENST00000335927.7_Nonsense_Mutation_p.E218* Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 260 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 26 TTAAACCATTCCACGTAAGCT 0.353000 6 25 0.248553 0.249965 1 1 0 TP53 7157 broad.mit.edu 37 17 7577046 7577046 + Nonsense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:7577046C>A ENST00000420246.2 - 8 1024 c.892G>T c.(892-894)Gag>Tag p.E298* TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E298*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 298 Interaction with HIPK1 (By similarity). E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGGGGCAGCTCGTGGTGAGGC 0.567000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 29 14 8.88839e-20 1.2291e-19 1 1 0 PCDHA2 56146 broad.mit.edu 37 5 140176485 140176485 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr5:140176485C>T ENST00000526136.1 + 1 1936 c.1936C>T c.(1936-1938)Cgc>Tgc p.R646C PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R646C|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R646C NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCTCGACACCGCCTACTCGT 0.642000 33 11 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55540556 55540556 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr8:55540556C>A ENST00000220676.1 + 4 4262 c.4114C>A c.(4114-4116)Cta>Ata p.L1372I NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1372 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TCAGAAAGATCTAAATATTTT 0.333000 42 39 2.6416e-12 3.39634e-12 1 1 0 SRRM2 23524 broad.mit.edu 37 16 2812438 2812438 + Missense_Mutation SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr16:2812438A>T ENST00000301740.8 + 11 2458 c.1909A>T c.(1909-1911)Agt>Tgt p.S637C NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 637 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CAGGTCTCGTAGTAGATCACC 0.622000 5 82 0 0 1 0 0 TSPAN19 144448 broad.mit.edu 37 12 85408284 85408284 + Missense_Mutation SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr12:85408284T>C ENST00000532498.2 - 9 809 c.729A>G c.(727-729)atA>atG p.I243M NM_001100917.1 NP_001094387.1 P0C672 TSN19_HUMAN tetraspanin 19 243 integral to membrane ovary(1) 1 CTGCATGGATTATATTCTTGA 0.274000 9 20 0 0 1 0 0 NVL 4931 broad.mit.edu 37 1 224463099 224463099 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:224463099G>C ENST00000281701.6 - 17 2283 c.2024C>G c.(2023-2025)cCc>cGc p.P675R NVL_ENST00000469075.1_Missense_Mutation_p.P584R|NVL_ENST00000482491.1_Missense_Mutation_p.P399R|NVL_ENST00000340871.4_Missense_Mutation_p.P486R|NVL_ENST00000391875.2_Missense_Mutation_p.P569R|NVL_ENST00000361463.3_Missense_Mutation_p.P569R NM_002533.3 NP_002524.2 O15381 NVL_HUMAN nuclear VCP-like 675 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1) 42 GBM - Glioblastoma multiforme(131;0.00501) TATCACACAGGGTGCTGAGTT 0.408000 28 50 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7229573 7229573 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:7229573C>T ENST00000379938.2 + 10 1778 c.1241C>T c.(1240-1242)cCt>cTt p.P414L RREB1_ENST00000349384.6_Missense_Mutation_p.P414L|RREB1_ENST00000334984.6_Missense_Mutation_p.P414L|RREB1_ENST00000379933.3_Missense_Mutation_p.P414L NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 414 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) AGCCTGTCACCTTTCGAAGCT 0.592000 14 30 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11684444 11684444 + Silent SNP G G A rs143485595 TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:11684444G>A ENST00000262442.3 + 39 7739 c.7671G>A c.(7669-7671)acG>acA p.T2557T DNAH9_ENST00000454412.2_Silent_p.T2557T NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2557 AAA 3 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCTACGGGACGGTGCAGCCCC 0.552000 8 22 0 0 1 0 0 HEXDC 284004 broad.mit.edu 37 17 80398881 80398881 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:80398881G>C ENST00000337014.6 + 10 1465 c.991G>C c.(991-993)Gat>Cat p.D331H HEXDC_ENST00000327949.9_Missense_Mutation_p.D331H|HEXDC_ENST00000577944.1_Missense_Mutation_p.D331H NM_173620.2 NP_775891.2 Q8WVB3 HEXDC_HUMAN hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing 331 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) AGGAGGATTTGATGAAGATGT 0.572000 123 130 0 0 1 0 0 TTC12 54970 broad.mit.edu 37 11 113222881 113222881 + Missense_Mutation SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:113222881A>T ENST00000393020.1 + 16 1803 c.1398A>T c.(1396-1398)agA>agT p.R466S TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000529221.1_Missense_Mutation_p.R466S|TTC12_ENST00000483239.2_Missense_Mutation_p.R472S|TTC12_ENST00000314756.3_Missense_Mutation_p.R466S Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 466 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) CTACCCGAAGACACATGGCGG 0.498000 24 31 0 0 1 0 0 PRR22 163154 broad.mit.edu 37 19 5783178 5783178 + Silent SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:5783178C>G ENST00000419421.2 - 3 1184 c.1080G>C c.(1078-1080)gcG>gcC p.A360A NM_001134316.1 NP_001127788.1 Q8IZ63 PRR22_HUMAN proline rich 22 358 endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1) 5 CCTCGTCGAGCGCCTTGAAGT 0.632000 31 42 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103379927 103379927 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:103379927G>A ENST00000358392.2 - 52 4312 c.3995C>T c.(3994-3996)cCt>cTt p.P1332L COL11A1_ENST00000370096.3_Missense_Mutation_p.P1320L|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1204L|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1281L NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1320 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AGGTTCCCCAGGAGGACCAGG 0.323000 4 13 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13753519 13753519 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr5:13753519C>A ENST00000265104.4 - 63 10799 c.10695G>T c.(10693-10695)gaG>gaT p.E3565D NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3565 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CAATCAACATCTCACTGAGAT 0.403000 Kartagener syndrome 36 103 5.71845e-15 7.57231e-15 1 1 0 DHX8 1659 broad.mit.edu 37 17 41582089 41582089 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:41582089G>T ENST00000262415.3 + 12 1696 c.1624G>T c.(1624-1626)Gcc>Tcc p.A542S DHX8_ENST00000540306.1_Missense_Mutation_p.A542S NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 542 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) GAAGAAGCATGCCTTTGGGGG 0.493000 63 113 5.82218e-30 8.44693e-30 1 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110520439 110520439 + Silent SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr8:110520439C>A ENST00000378402.5 + 70 11445 c.11341C>A c.(11341-11343)Cga>Aga p.R3781R NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3781 immune response cytosol|extracellular space|integral to membrane receptor activity p.R3785R(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CACAGAAACTCGAAGACTTTC 0.393000 HNSCC(38;0.096) 23 150 1.85244e-09 2.2717e-09 1 1 0 CHTF18 63922 broad.mit.edu 37 16 845787 845787 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr16:845787G>C ENST00000317063.6 + 19 2905 c.2905G>C c.(2905-2907)Gat>Cat p.D969H CHTF18_ENST00000262315.9_Missense_Mutation_p.D760H|CHTF18_ENST00000455171.2_Missense_Mutation_p.D788H Q8WVB6 CTF18_HUMAN CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) 760 cell cycle|DNA replication nucleus ATP binding|DNA binding|nucleoside-triphosphatase activity endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1) 11 Hepatocellular(780;0.00335) CCTGCTCCTCGATGCCCTCTG 0.692000 3 19 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10404461 10404461 + Missense_Mutation SNP A A G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:10404461A>G ENST00000226207.5 - 27 3798 c.3704T>C c.(3703-3705)cTt>cCt p.L1235P CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1235 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GTTACTAGCAAGGTCATCGAT 0.438000 16 66 0 0 1 0 0 USP8 9101 broad.mit.edu 37 15 50784907 50784907 + Missense_Mutation SNP T T G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr15:50784907T>G ENST00000433963.1 + 16 2744 c.2244T>G c.(2242-2244)tgT>tgG p.C748W USP8_ENST00000425032.3_Missense_Mutation_p.C642W|USP8_ENST00000396444.3_Missense_Mutation_p.C748W|USP8_ENST00000307179.4_Missense_Mutation_p.C748W NM_001128611.1 NP_001122083.1 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 748 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) GGCCAACATGTTATCCTAAAG 0.408000 7 34 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228400265 228400265 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:228400265G>C ENST00000570156.2 + 2 855 c.781G>C c.(781-783)Gtg>Ctg p.V261L OBSCN_ENST00000422127.1_Missense_Mutation_p.V261L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000284548.11_Missense_Mutation_p.V261L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 261 Ig-like 3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CAGCTGCTACGTGACCGGCGA 0.711000 27 25 0 0 1 0 0 CHST2 9435 broad.mit.edu 37 3 142840969 142840969 + Silent SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr3:142840969G>C ENST00000309575.3 + 2 2695 c.1311G>C c.(1309-1311)cgG>cgC p.R437R NM_004267.4 NP_004258.2 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 437 inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 AGACACTACGGAGAGTGTACG 0.612000 15 26 0 0 1 0 0 LTK 4058 broad.mit.edu 37 15 41803370 41803370 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr15:41803370C>G ENST00000263800.6 - 7 1085 c.989G>C c.(988-990)gGc>gCc p.G330A LTK_ENST00000561619.1_Intron|LTK_ENST00000355166.5_Intron|LTK_ENST00000453182.2_Intron NM_002344.5 NP_002335.2 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase 330 apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1) 26 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) ACCCCTGTAgccgccgccgcc 0.731000 TSP Lung(18;0.14) 4 2 0 0 1 0 0 C4orf50 389197 broad.mit.edu 37 4 5961316 5961316 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr4:5961316G>C ENST00000531445.1 - 7 2085 c.2039C>G c.(2038-2040)aCg>aGg p.T680R C4orf50_ENST00000324058.5_Missense_Mutation_p.T206R Q6ZRC1 CD050_HUMAN chromosome 4 open reading frame 50 206 breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1) 15 TGCCAGGCACGTTCCAGGATC 0.562000 10 18 0 0 1 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370284 35370284 + Missense_Mutation SNP T T G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:35370284T>G ENST00000373347.1 - 3 969 c.701A>C c.(700-702)cAc>cCc p.H234P DLGAP3_ENST00000235180.4_Missense_Mutation_p.H234P O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 234 Poly-His. cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) CCGGGACtggtggtggtggtg 0.652000 45 30 0 0 1 0 0 BCAS2 10286 broad.mit.edu 37 1 115110808 115110808 + Nonsense_Mutation SNP A A C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:115110808A>C ENST00000369541.3 - 7 668 c.621T>G c.(619-621)taT>taG p.Y207* BCAS2_ENST00000485021.1_5'UTR NM_005872.2 NP_005863.1 O75934 SPF27_HUMAN breast carcinoma amplified sequence 2 207 mRNA processing|RNA splicing, via transesterification reactions nucleolus|spliceosomal complex protein binding biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4) 13 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GCTTAATTTGATAGATTTCAT 0.373000 35 96 0 0 1 0 0 EPDR1 54749 broad.mit.edu 37 7 37989816 37989816 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:37989816G>C ENST00000199448.4 + 3 872 c.493G>C c.(493-495)Ggc>Cgc p.G165R EPDR1_ENST00000425345.1_Missense_Mutation_p.G104R|EPDR1_ENST00000559325.1_Missense_Mutation_p.G285R|EPDR1_ENST00000476620.1_Missense_Mutation_p.G63R|EPDR1_ENST00000423717.1_3'UTR NM_017549.4 NP_060019.2 Q9UM22 EPDR1_HUMAN ependymin related 1 165 cell-matrix adhesion extracellular region calcium ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 AACCTGGATTGGCATCTATAC 0.358000 5 20 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9923360 9923360 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr16:9923360C>A ENST00000396573.2 - 10 2236 c.1927G>T c.(1927-1929)Gct>Tct p.A643S GRIN2A_ENST00000535259.1_Missense_Mutation_p.A486S|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A643S|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A643S|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A643S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A643S NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 643 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.A643S(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTGTAGCTAGCCAGGAATATG 0.507000 40 11 4.32679e-17 5.81652e-17 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77618402 77618402 + Silent SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr8:77618402G>C ENST00000521891.2 + 2 2527 c.2079G>C c.(2077-2079)acG>acC p.T693T ZFHX4_ENST00000455469.2_Silent_p.T693T|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.T693T|ZFHX4_ENST00000050961.6_Silent_p.T693T NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 693 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGAGTTACACGTGTGGCTATA 0.507000 HNSCC(33;0.089) 8 36 0 0 1 0 0 BRD9 65980 broad.mit.edu 37 5 870640 870640 + Silent SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr5:870640C>T ENST00000323510.4 - 11 1184 c.1185G>A c.(1183-1185)tcG>tcA p.S395S BRD9_ENST00000483173.1_Silent_p.S438S|BRD9_ENST00000388890.4_Silent_p.S375S|BRD9_ENST00000467963.1_Silent_p.S491S Q9H8M2 BRD9_HUMAN bromodomain containing 9 491 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) AGGACTTCATCGACATGAACT 0.493000 9 53 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189855056 189855056 + Silent SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:189855056A>T ENST00000304636.3 + 10 938 c.768A>T c.(766-768)atA>atT p.I256I COL3A1_ENST00000317840.5_Silent_p.I256I NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 256 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CAGCTGGGATACCTGGATTCC 0.343000 12 9 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73151799 73151799 + Silent SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr9:73151799C>A ENST00000377110.2 - 25 4437 c.4194G>T c.(4192-4194)tcG>tcT p.S1398S TRPM3_ENST00000423814.3_Silent_p.S1425S|TRPM3_ENST00000396280.5_Silent_p.S1247S|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000377106.1_Silent_p.S1270S|TRPM3_ENST00000396292.4_Silent_p.S1270S|TRPM3_ENST00000357533.2_Silent_p.S1402S|TRPM3_ENST00000358082.3_Silent_p.S1260S|TRPM3_ENST00000377105.1_Silent_p.S1257S|TRPM3_ENST00000396285.1_Silent_p.S1257S|TRPM3_ENST00000408909.2_Silent_p.S1257S|TRPM3_ENST00000360823.2_Silent_p.S1260S NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1423 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 TGTCTATACACGATGATGGTC 0.507000 33 44 1.30988e-24 1.85975e-24 1 1 0 H1FOO 132243 broad.mit.edu 37 3 129270168 129270168 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr3:129270168G>C ENST00000324382.2 + 5 1031 c.1026G>C c.(1024-1026)caG>caC p.Q342H H1FOO_ENST00000503977.1_Missense_Mutation_p.Q203H NM_153833.1 NP_722575.1 Q8IZA3 H1FOO_HUMAN H1 histone family, member O, oocyte-specific 342 meiosis|nucleosome assembly cytoplasm|nucleosome DNA binding endometrium(1)|lung(4)|skin(1) 6 TGTCCAGCCAGAGGGCTGAAG 0.537000 8 21 0 0 1 0 0 OR52N1 79473 broad.mit.edu 37 11 5809393 5809393 + Silent SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:5809393G>A ENST00000317078.1 - 1 653 c.654C>T c.(652-654)atC>atT p.I218I TRIM5_ENST00000380027.1_Intron NM_001001913.1 NP_001001913.1 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, member 1 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3) 31 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) TAGTGTAGGAGATTGTAATGC 0.478000 18 28 0 0 1 0 0 UVRAG 7405 broad.mit.edu 37 11 75851967 75851967 + Missense_Mutation SNP T T A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:75851967T>A ENST00000356136.3 + 15 1851 c.1610T>A c.(1609-1611)aTg>aAg p.M537K UVRAG_ENST00000539288.1_Missense_Mutation_p.M165K|UVRAG_ENST00000538870.1_Missense_Mutation_p.M93K|UVRAG_ENST00000532130.1_Missense_Mutation_p.M165K|UVRAG_ENST00000531818.1_Missense_Mutation_p.M165K|UVRAG_ENST00000533454.1_Missense_Mutation_p.M165K|UVRAG_ENST00000528420.1_Missense_Mutation_p.M436K NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 537 DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 GTCCCCTCCATGGGAGAGACC 0.498000 16 23 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43430101 43430101 + RNA SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:43430101G>A ENST00000446844.3 - 0 1156 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) GTTAGAGTCCGCAAAGCAGGA 0.448000 88 143 0 0 1 0 0 SCN7A 6332 broad.mit.edu 37 2 167298000 167298000 + Missense_Mutation SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:167298000T>C ENST00000409855.1 - 14 2189 c.2063A>G c.(2062-2064)gAg>gGg p.E688G NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 688 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 CTCTACCCACTCTCCACAGAG 0.448000 20 28 0 0 1 0 0 OR52I2 143502 broad.mit.edu 37 11 4608601 4608601 + Missense_Mutation SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:4608601A>T ENST00000312614.4 + 1 581 c.559A>T c.(559-561)Act>Tct p.T187S NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CATAGCCATAACTCCACTGAG 0.488000 31 41 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121400619 121400619 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr3:121400619G>C ENST00000393667.3 - 15 8898 c.8788C>G c.(8788-8790)Caa>Gaa p.Q2930E GOLGB1_ENST00000340645.5_Missense_Mutation_p.Q2925E NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 2925 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) GTCTTATCTTGATACTCCTGA 0.408000 14 33 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26492364 26492364 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr12:26492364G>A ENST00000381340.3 - 57 8488 c.8072C>T c.(8071-8073)aCa>aTa p.T2691I RP11-513G19.1_ENST00000535324.1_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2691 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) CACATGGGGTGTGTTTGATCC 0.483000 12 17 0 0 1 0 0 GH1 2688 broad.mit.edu 37 17 61995813 61995813 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:61995813G>C ENST00000323322.5 - 2 106 c.64C>G c.(64-66)Caa>Gaa p.Q22E GH1_ENST00000342364.4_Missense_Mutation_p.Q22E|GH1_ENST00000458650.2_Missense_Mutation_p.Q22E|GH1_ENST00000351388.4_Missense_Mutation_p.Q22E|CSHL1_ENST00000392824.4_Intron NM_000515.3 NP_000506.2 P01241 SOMA_HUMAN growth hormone 1 22 glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 19 CTGCCCTCTTGAAGCCAGGGC 0.612000 6 188 0 0 1 0 0 KIR2DL3 3804 broad.mit.edu 37 19 55258838 55258838 + Splice_Site SNP G G T rs142072295 TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:55258838G>T ENST00000342376.3 + 5 746 c.e5+1 KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron NM_015868.2 NP_056952.2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 21 GBM - Glioblastoma multiforme(193;0.0192) TCCGAAACCGGTGAGTACAGA 0.507000 23 56 9.9998e-32 1.45876e-31 1 1 0 MUC5B 727897 broad.mit.edu 37 11 1272821 1272821 + Missense_Mutation SNP G G C rs56353324 TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:1272821G>C ENST00000447027.1 + 31 14778 c.14720G>C c.(14719-14721)cGc>cCc p.R4907P MUC5B_ENST00000529681.1_Missense_Mutation_p.R4904P Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4904 Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GGGACCACCCGCACCCCTGCA 0.652000 12 20 0 0 1 0 0 CEMP1 752014 broad.mit.edu 37 16 2580999 2580999 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr16:2580999G>C ENST00000382350.1 - 1 421 c.76C>G c.(76-78)Ctc>Gtc p.L26V AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000567119.1_Missense_Mutation_p.L26V|AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000565480.1_Missense_Mutation_p.L26V Q6PRD7 CEMP1_HUMAN cementum protein 1 26 cytoplasm lung(1)|skin(1) 2 AGGCAGGTGAGGTTCTCAGCC 0.627000 6 21 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54305531 54305531 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr15:54305531C>T ENST00000545554.1 + 1 431 c.431C>T c.(430-432)tCa>tTa p.S144L UNC13C_ENST00000537900.1_Missense_Mutation_p.S144L|UNC13C_ENST00000260323.11_Missense_Mutation_p.S144L Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 144 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CAGGCACAATCAACACACACA 0.458000 4 26 0 0 1 0 0 FANCB 2187 broad.mit.edu 37 X 14883255 14883255 + Silent SNP T T A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chrX:14883255T>A ENST00000398334.1 - 3 645 c.378A>T c.(376-378)ctA>ctT p.L126L FANCB_ENST00000324138.3_Silent_p.L126L NM_001018113.1 NP_001018123.1 Q8NB91 FANCB_HUMAN Fanconi anemia, complementation group B 126 DNA repair nucleoplasm NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) TCTCATAGCCTAGTTTAAAAC 0.313000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 9 6 0 0 1 0 0 LARP1B 55132 broad.mit.edu 37 4 129003419 129003419 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr4:129003419C>T ENST00000326639.6 + 5 528 c.317C>T c.(316-318)gCa>gTa p.A106V LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000512292.1_Missense_Mutation_p.A106V|LARP1B_ENST00000432347.2_Missense_Mutation_p.A106V|LARP1B_ENST00000264584.5_Intron|LARP1B_ENST00000441387.1_Missense_Mutation_p.A106V|LARP1B_ENST00000394288.3_Missense_Mutation_p.A106V|LARP1B_ENST00000427266.1_Missense_Mutation_p.A106V NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 106 RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 CAACCTGAAGCAAATAAACCA 0.388000 18 32 0 0 1 0 0 OR2T1 26696 broad.mit.edu 37 1 248570267 248570267 + Silent SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:248570267C>T ENST00000366474.1 + 1 972 c.972C>T c.(970-972)ctC>ctT p.L324L NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 324 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACAAAGTCCTCTCTGTGTTTT 0.527000 35 87 0 0 1 0 0 DNM3 26052 broad.mit.edu 37 1 172376917 172376917 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:172376917G>A ENST00000358155.4 + 21 2704 c.2528G>A c.(2527-2529)aGa>aAa p.R843K DNM3_ENST00000367731.1_Missense_Mutation_p.R839K|PIGC_ENST00000484368.1_Intron|DNM3_ENST00000355305.5_Missense_Mutation_p.R849K NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 849 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 TCTAGCCGGAGACCACCCCCA 0.433000 22 72 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179449435 179449435 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:179449435G>T ENST00000589042.1 - 310 65157 c.64933C>A c.(64933-64935)Cct>Act p.P21645T TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P12705T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P12772T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P20004T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P12580T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P19077T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20004 Fibronectin type-III 57. 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) GATGTGAGAGGCTCTGAAATG 0.433000 72 141 9.35569e-46 1.37996e-45 1 1 0 PTGES3L-AARSD1 100885850 broad.mit.edu 37 17 41106957 41106957 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:41106957C>T ENST00000421990.2 - 14 1756 c.1411G>A c.(1411-1413)Gct>Act p.A471T PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.A380T|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.A471T|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.A410T|AARSD1_ENST00000427569.2_Missense_Mutation_p.A297T NM_001136042.2 NP_001129514.2 ATGTGCACAGCCAGGTCTCTG 0.468000 19 29 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228566495 228566495 + Silent SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:228566495G>A ENST00000570156.2 + 116 26845 c.26771G>A c.(26770-26772)tGa>tAa p.*8924* OBSCN_ENST00000422127.1_Silent_p.*7969*|OBSCN_ENST00000366707.4_Silent_p.*5603* NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 0 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CAGGTGCGCTGAGGGTCGCCC 0.667000 12 8 0 0 1 0 0 KIF19 124602 broad.mit.edu 37 17 72345427 72345427 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:72345427G>T ENST00000389916.4 + 10 1290 c.1152G>T c.(1150-1152)gaG>gaT p.E384D NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 384 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 AGATTGATGAGCAGACTGGGC 0.652000 18 21 1.01871e-10 1.27881e-10 1 1 0 ATP10A 57194 broad.mit.edu 37 15 25959330 25959330 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr15:25959330C>A ENST00000356865.6 - 10 1946 c.1835G>T c.(1834-1836)aGg>aTg p.R612M NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 612 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) GGGTGTGAACCTCCGCAGGAA 0.597000 4 29 0.000602214 0.00064732 1 1 0 SPOPL 339745 broad.mit.edu 37 2 139316872 139316872 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:139316872G>T ENST00000280098.4 + 7 1058 c.679G>T c.(679-681)Gcc>Tcc p.A227S NM_001001664.2 NP_001001664.1 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 227 BTB. nucleus p.A227T(1) breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2) 21 BRCA - Breast invasive adenocarcinoma(221;0.0296) AGTTTTTAACGCCATGTTTGA 0.289000 9 19 0.0477658 0.0491543 1 1 0 EHD4 30844 broad.mit.edu 37 15 42193002 42193002 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr15:42193002C>A ENST00000220325.4 - 6 1550 c.1467G>T c.(1465-1467)aaG>aaT p.K489N NM_139265.3 NP_644670.1 Q9H223 EHD4_HUMAN EH-domain containing 4 489 EF-hand.|EH. endocytic recycling|protein homooligomerization early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1) 20 all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538) AGTCGGCCAGCTTCCAGATCT 0.582000 19 13 7.45023e-12 9.50978e-12 1 1 0 NEXN 91624 broad.mit.edu 37 1 78408200 78408200 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:78408200G>C ENST00000330010.8 + 12 1819 c.1522G>C c.(1522-1524)Gaa>Caa p.E508Q NEXN_ENST00000457030.1_Missense_Mutation_p.E558Q|NEXN_ENST00000480732.1_3'UTR|NEXN_ENST00000334785.7_Missense_Mutation_p.E572Q NM_001172309.1 NP_001165780.1 Q0ZGT2 NEXN_HUMAN nexilin (F actin binding protein) 572 Glu-rich. regulation of cell migration|regulation of cytoskeleton organization cytoskeleton|Z disc actin filament binding|structural constituent of muscle breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Colorectal(170;0.114) CTCCACTGCTGAAGATGAAGA 0.403000 14 36 0 0 1 0 0 GABRA4 2557 broad.mit.edu 37 4 46973106 46973106 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr4:46973106C>A ENST00000264318.3 - 7 1850 c.868G>T c.(868-870)Gta>Tta p.V290L NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 290 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTACCAAATACAGTCCTAGCG 0.318000 7 23 0.0293803 0.0303521 1 1 0 MGAT4C 25834 broad.mit.edu 37 12 86383257 86383257 + Missense_Mutation SNP C C A rs145205649 TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr12:86383257C>A ENST00000604798.1 - 6 1272 c.68G>T c.(67-69)cGt>cTt p.R23L MGAT4C_ENST00000549405.2_Missense_Mutation_p.R23L|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R23L|MGAT4C_ENST00000552435.2_Missense_Mutation_p.R23L|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R52L|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R23L|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R23L Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 23 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CACTGTAGAACGTTTTCTCAG 0.323000 11 10 0.0692343 0.0708351 1 1 0 SEMA3E 9723 broad.mit.edu 37 7 82996929 82996929 + Silent SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:82996929G>A ENST00000307792.3 - 17 2768 c.2301C>T c.(2299-2301)cgC>cgT p.R767R SEMA3E_ENST00000427262.1_Silent_p.R707R NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 767 Arg/Lys-rich (basic). axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) GCCTGGGCAGGCGGTAATGCT 0.423000 54 92 0 0 1 0 0 HRASLS 57110 broad.mit.edu 37 3 192980984 192980984 + Missense_Mutation SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr3:192980984T>C ENST00000264735.2 + 3 774 c.680T>C c.(679-681)tTt>tCt p.F227S HRASLS_ENST00000602513.1_Missense_Mutation_p.F122S NM_020386.4 NP_065119.2 Q9HDD0 HRSL1_HUMAN HRAS-like suppressor 122 breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 10 all_cancers(143;9.1e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000159) TGTGAACATTTTGTGACATTG 0.398000 20 49 0 0 1 0 0 FOXI1 2299 broad.mit.edu 37 5 169535491 169535491 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr5:169535491C>T ENST00000449804.2 + 2 773 c.728C>T c.(727-729)gCg>gTg p.A243V FOXI1_ENST00000306268.6_Missense_Mutation_p.A338V NM_012188.4|NM_144769.2 NP_036320.2|NP_658982.1 Q12951 FOXI1_HUMAN forkhead box I1 338 P -> S (in dbSNP:rs35678180). epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding p.A338V(1) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGTGACTGGGCGAACCCCATG 0.577000 Pendred syndrome 24 14 0 0 1 0 0 GEN1 348654 broad.mit.edu 37 2 17962285 17962285 + Silent SNP A A G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:17962285A>G ENST00000381254.2 + 14 2020 c.1806A>G c.(1804-1806)caA>caG p.Q602Q GEN1_ENST00000317402.7_Silent_p.Q602Q|SMC6_ENST00000402989.1_Intron NM_001130009.1 NP_001123481.1 Q17RS7 GEN_HUMAN GEN1 Holliday junction 5' flap endonuclease 602 DNA repair nucleus DNA binding|endonuclease activity|metal ion binding breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CAGCTATTCAAAGGAATACTT 0.373000 Homologous recombination 19 35 0 0 1 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21793083 21793083 + Missense_Mutation SNP T T A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr14:21793083T>A ENST00000206660.6 + 14 2069 c.2069T>A c.(2068-2070)tTc>tAc p.F690Y RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.F49Y|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.F690Y|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.F652Y Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 690 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) GATTCGCTTTTCTTACACTAC 0.507000 69 86 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7456772 7456772 + Nonsense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr3:7456772G>T ENST00000486284.1 + 5 1370 c.1096G>T c.(1096-1098)Gaa>Taa p.E366* GRM7_ENST00000357716.4_Nonsense_Mutation_p.E366*|GRM7_ENST00000389336.4_Nonsense_Mutation_p.E366*|GRM7_ENST00000403881.1_Nonsense_Mutation_p.E366*|GRM7_ENST00000402647.2_Nonsense_Mutation_p.E366* NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 366 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) ATGGTTTGCCGAATACTGGGA 0.408000 15 11 8.60227e-14 1.12231e-13 1 1 0 RAG2 5897 broad.mit.edu 37 11 36615385 36615385 + Missense_Mutation SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:36615385T>C ENST00000311485.3 - 2 495 c.334A>G c.(334-336)Att>Gtt p.I112V NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 112 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) TTGCAAACAATAGACATGACA 0.393000 Familial Hemophagocytic Lymphohistiocytosis 25 57 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196645186 196645186 + Missense_Mutation SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:196645186A>T ENST00000367429.4 + 4 658 c.418A>T c.(418-420)Ata>Tta p.I140L CFH_ENST00000439155.2_Missense_Mutation_p.I140L|CFH_ENST00000359637.2_Missense_Mutation_p.I140L NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 140 Sushi 2. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TGATATTCCTATATGTGAAGG 0.274000 18 29 0 0 1 0 0 PTPN3 5774 broad.mit.edu 37 9 112172686 112172686 + Silent SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr9:112172686G>A ENST00000412145.1 - 10 3483 c.930C>T c.(928-930)tcC>tcT p.S310S PTPN3_ENST00000446349.1_Silent_p.S265S|PTPN3_ENST00000262539.3_Silent_p.S287S|PTPN3_ENST00000394827.3_5'UTR|PTPN3_ENST00000374541.2_Silent_p.S441S NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 441 FERM. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 GATTGTTCTCGGATAAACTCC 0.488000 33 62 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84639319 84639319 + Silent SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr15:84639319C>T ENST00000286744.5 + 20 2798 c.2574C>T c.(2572-2574)ctC>ctT p.L858L ADAMTSL3_ENST00000567476.1_Silent_p.L858L|ADAMTSL3_ENST00000567716.1_3'UTR NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 858 TSP type-1 7. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GCATCCCCCTCAGTGAGATGA 0.527000 4 67 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114279309 114279309 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr4:114279309G>A ENST00000357077.4 + 38 9588 c.9535G>A c.(9535-9537)Gca>Aca p.A3179T ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.A3146T|ANK2_ENST00000509550.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3146 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GGATGATGAGGCAGACTTACT 0.478000 20 22 0 0 1 0 0 HCN3 57657 broad.mit.edu 37 1 155255066 155255066 + Missense_Mutation SNP A A C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:155255066A>C ENST00000368358.3 + 5 1208 c.1200A>C c.(1198-1200)gaA>gaC p.E400D HCN3_ENST00000496230.1_3'UTR NM_020897.1 NP_065948.1 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 3 400 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TCGATGAGGAAAGCATCCTGG 0.622000 31 28 0 0 1 0 0 IGHD5-24 28489 broad.mit.edu 37 14 106349775 106349775 + RNA SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr14:106349775C>T ENST00000390569.1 - 0 5 TTGTAGCCATCTCTACCACGG 0.622000 19 47 0 0 1 0 0 SCP2D1 140856 broad.mit.edu 37 20 18794793 18794793 + Nonsense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr20:18794793G>T ENST00000377428.2 + 1 424 c.334G>T c.(334-336)Gag>Tag p.E112* C20orf78_ENST00000278779.4_Intron NM_178483.2 NP_848578.1 SCP2 sterol-binding domain containing 1 TACAATCCCGGAGTCTGTCTT 0.507000 10 30 0.000442599 0.000479633 1 1 0 HTR3A 3359 broad.mit.edu 37 11 113860189 113860189 + Missense_Mutation SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:113860189A>T ENST00000504030.2 + 9 1586 c.1141A>T c.(1141-1143)Atg>Ttg p.M381L HTR3A_ENST00000299961.5_Missense_Mutation_p.M366L|HTR3A_ENST00000355556.2_Missense_Mutation_p.M419L|HTR3A_ENST00000535865.1_Missense_Mutation_p.M125L|HTR3A_ENST00000375498.2_Missense_Mutation_p.M387L|HTR3A_ENST00000506841.2_Missense_Mutation_p.M413L P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 381 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) TCTTCCAGCCATGGGAAACCA 0.587000 34 73 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48839755 48839755 + Splice_Site SNP T T A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr8:48839755T>A ENST00000314191.2 - 21 2474 c.2419_splice c.e21+1 p.S806_splice PRKDC_ENST00000338368.3_Splice_Site_p.S806_splice|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 806 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AAACATTACCTGACAAGGCTG 0.343000 Non-homologous end-joining 13 21 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139418283 139418283 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr9:139418283G>C ENST00000277541.6 - 3 364 c.289C>G c.(289-291)Ctc>Gtc p.L97V NOTCH1_ENST00000491649.1_5'UTR NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 97 EGF-like 2. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GTCAGGCAGAGGGGCCCAGAG 0.677000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 13 13 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87967926 87967926 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:87967926G>C ENST00000369577.3 + 8 4622 c.4579G>C c.(4579-4581)Gtg>Ctg p.V1527L ZNF292_ENST00000339907.4_Missense_Mutation_p.V1522L NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1527 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) AAATGCAACGGTGATGCCAAA 0.463000 7 9 0 0 1 0 0 AGAP7 653268 broad.mit.edu 37 10 51465411 51465411 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr10:51465411C>G ENST00000374095.5 - 7 1170 c.1045G>C c.(1045-1047)Ggt>Cgt p.G349R NM_001077685.1 NP_001071153.1 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 349 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 11 ATGGAGTCACCCAGCCCGGTG 0.547000 29 104 0 0 1 0 0 SERHL 94009 broad.mit.edu 37 22 42896698 42896698 + RNA SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr22:42896698G>A ENST00000359906.2 + 0 103 NR_027786.1 serine hydrolase-like endometrium(1)|large_intestine(1) 2 CGCCGCACCAGGTCGCCTTAG 0.647000 7 23 0 0 1 0 0 FRMD1 79981 broad.mit.edu 37 6 168475987 168475987 + Missense_Mutation SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:168475987T>C ENST00000283309.6 - 2 306 c.242A>G c.(241-243)cAg>cGg p.Q81R FRMD1_ENST00000440994.2_Missense_Mutation_p.Q13R NM_024919.3 NP_079195.3 Q8N878 FRMD1_HUMAN FERM domain containing 1 81 FERM. cytoskeleton binding endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 19 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GCACACTTGCTGGAAAAGCTC 0.612000 11 31 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24339681 24339681 + Silent SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr8:24339681G>T ENST00000175238.6 + 9 815 c.732G>T c.(730-732)gtG>gtT p.V244V ADAM7_ENST00000520720.1_Silent_p.V16V|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Silent_p.V244V NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 244 Peptidase M12B. V -> M (in dbSNP:rs13255694). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) ACATCCATGTGACGTTGGTTG 0.294000 5 19 0.184627 0.186737 1 1 0 INTS7 25896 broad.mit.edu 37 1 212118150 212118150 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:212118150C>G ENST00000366994.3 - 19 2681 c.2577G>C c.(2575-2577)caG>caC p.Q859H INTS7_ENST00000440600.2_Missense_Mutation_p.Q810H|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.Q839H|INTS7_ENST00000366993.3_Missense_Mutation_p.Q845H NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 859 snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) CAGATTTACTCTGCAGTGTGG 0.418000 5 74 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 4 56 0 0 1 0 0 SLITRK2 84631 broad.mit.edu 37 X 144904200 144904200 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chrX:144904200C>A ENST00000370490.1 + 1 4512 c.257C>A c.(256-258)tCc>tAc p.S86Y SLITRK2_ENST00000447897.2_Missense_Mutation_p.S86Y|SLITRK2_ENST00000434188.2_Missense_Mutation_p.S86Y|SLITRK2_ENST00000428560.2_Missense_Mutation_p.S86Y|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S86Y Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 86 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) GTCAATTACTCCAACGCGGTG 0.473000 28 18 0.144211 0.146979 1 1 0 AFF3 3899 broad.mit.edu 37 2 100209885 100209885 + Silent SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:100209885G>A ENST00000317233.4 - 14 2473 c.2238C>T c.(2236-2238)gtC>gtT p.V746V AFF3_ENST00000409579.1_Silent_p.V771V|AFF3_ENST00000409236.1_Silent_p.V746V|AFF3_ENST00000356421.2_Silent_p.V771V NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 746 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 GGCCAAAGGGGACCAGTGTGT 0.587000 29 37 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 141006849 141006849 + Splice_Site SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr9:141006849G>A ENST00000277549.5 + 40 5579 c.e40-1 CACNA1B_ENST00000371363.1_Splice_Site|CACNA1B_ENST00000277551.2_Splice_Site|CACNA1B_ENST00000371365.2_Splice_Site|CACNA1B_ENST00000371355.4_Splice_Site|CACNA1B_ENST00000371357.1_Splice_Site|CACNA1B_ENST00000371372.1_Splice_Site Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TCCTGGTGCAGCTGGGACAAA 0.572000 19 31 0 0 1 0 0 BTNL2 56244 broad.mit.edu 37 6 32370924 32370924 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:32370924G>T ENST00000454136.3 - 3 501 c.497C>A c.(496-498)gCa>gAa p.A166E BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000374993.1_Missense_Mutation_p.A166E|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000544175.1_Intron Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 (MHC class II associated) 166 Ig-like V-type 2. integral to membrane central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 CCAGCCCCTTGCAGTGCACAC 0.602000 6 17 2.0095e-06 2.28489e-06 1 1 0 HPGD 3248 broad.mit.edu 37 4 175416710 175416710 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr4:175416710G>A ENST00000296522.6 - 5 933 c.487C>T c.(487-489)Cgc>Tgc p.R163C HPGD_ENST00000541923.1_Missense_Mutation_p.R42C|HPGD_ENST00000510901.1_Missense_Mutation_p.R42C|HPGD_ENST00000296521.7_Missense_Mutation_p.R163C|HPGD_ENST00000422112.2_Missense_Mutation_p.R95C|HPGD_ENST00000542498.1_Intron NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1 NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1 P15428 PGDH_HUMAN hydroxyprostaglandin dehydrogenase 15-(NAD) 163 female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway cytosol|nucleus 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity kidney(1)|lung(3)|prostate(3) 7 Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196) all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253) NADH(DB00157) GCTGCTGAGCGTGTGAATCCA 0.403000 7 23 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176638879 176638879 + Nonsense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr5:176638879G>A ENST00000439151.2 + 5 3524 c.3479G>A c.(3478-3480)tGg>tAg p.W1160* NSD1_ENST00000354179.4_Nonsense_Mutation_p.W891*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.W1057*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.W891* NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1160 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AAAAAGCGGTGGCAGCGTTTA 0.433000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 22 6 0 0 1 0 0 NRCAM 4897 broad.mit.edu 37 7 107836287 107836287 + Missense_Mutation SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:107836287T>C ENST00000379028.3 - 15 1851 c.1381A>G c.(1381-1383)Aac>Gac p.N461D NRCAM_ENST00000413765.2_Missense_Mutation_p.N442D|NRCAM_ENST00000379022.4_Missense_Mutation_p.N461D|NRCAM_ENST00000425651.2_Missense_Mutation_p.N461D|NRCAM_ENST00000379024.4_Missense_Mutation_p.N442D|NRCAM_ENST00000351718.4_Missense_Mutation_p.N455D Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 461 Ig-like 5. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 TAGAGTGTGTTTGCAGGTGTG 0.403000 7 13 0 0 1 0 0 CSRNP3 80034 broad.mit.edu 37 2 166532981 166532981 + Nonsense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:166532981G>T ENST00000314499.7 + 6 944 c.568G>T c.(568-570)Gga>Tga p.G190* CSRNP3_ENST00000342316.4_Nonsense_Mutation_p.G190*|CSRNP3_ENST00000409420.1_Nonsense_Mutation_p.G222* NM_001172173.1 NP_001165644.1 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 190 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2) 33 GCGTGCCTCTGGAGTGAAAAA 0.493000 71 108 6.00099e-30 8.68263e-30 1 1 0 CELF2 10659 broad.mit.edu 37 10 11330515 11330515 + Splice_Site SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr10:11330515G>T ENST00000379261.4 + 9 1047 c.955_splice c.e9+1 p.V319_splice CELF2_ENST00000399850.3_Splice_Site_p.V295_splice|CELF2_ENST00000427450.1_Splice_Site_p.V295_splice|CELF2_ENST00000354440.2_Splice_Site_p.V295_splice|CELF2_ENST00000537122.1_Splice_Site_p.V208_splice|CELF2_ENST00000542579.1_Splice_Site_p.V326_splice|CELF2_ENST00000354897.3_Splice_Site_p.V295_splice|CELF2_ENST00000417956.2_Splice_Site_p.V295_splice|CELF2_ENST00000416382.2_Splice_Site_p.V319_splice|CELF2_ENST00000315874.3_Splice_Site_p.V295_splice|CELF2_ENST00000450189.1_Splice_Site_p.V326_splice NM_001025077.2 NP_001020248.1 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 319 Ala-rich. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 CACGAGTCCCGGTGAGTGTGG 0.652000 7 10 0.00198382 0.00210681 1 1 0 OR4X2 119764 broad.mit.edu 37 11 48266803 48266803 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:48266803C>A ENST00000302329.3 + 1 196 c.148C>A c.(148-150)Ccc>Acc p.P50T NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P50T(1) breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 CCTTGGTTCCCCCATGTACTT 0.488000 20 52 4.63292e-17 6.21233e-17 1 1 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159819840 159819840 + RNA SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr3:159819840T>C ENST00000497452.1 - 0 517 TTATGGGCCCTACGGTTCTTA 0.413000 14 54 0 0 1 0 0 SNAPC4 6621 broad.mit.edu 37 9 139272616 139272616 + Silent SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr9:139272616C>A ENST00000298532.2 - 21 4031 c.3663G>T c.(3661-3663)acG>acT p.T1221T NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 1221 Pro-rich. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) GGGACCCCGGCGTCCCCCTTG 0.706000 6 7 2.7689e-08 3.31145e-08 1 1 0 HERC1 8925 broad.mit.edu 37 15 63970261 63970261 + Missense_Mutation SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr15:63970261T>C ENST00000443617.2 - 37 6940 c.6853A>G c.(6853-6855)Agg>Ggg p.R2285G RP11-317G6.1_ENST00000559303.2_RNA NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 2285 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 AGGCCATGCCTAGTATGTTTA 0.512000 3 29 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 4 118 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197391036 197391036 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:197391036G>A ENST00000367397.1 + 2 1079 c.221G>A c.(220-222)aGt>aAt p.S74N CRB1_ENST00000544212.1_Missense_Mutation_p.S174N|CRB1_ENST00000367400.3_Missense_Mutation_p.S693N|CRB1_ENST00000535699.1_Missense_Mutation_p.S624N|CRB1_ENST00000367399.2_Missense_Mutation_p.S581N|CRB1_ENST00000538660.1_Missense_Mutation_p.S693N|CRB1_ENST00000543483.1_3'UTR P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 693 EGF-like 2. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TTGTGGCTGAGTTACCAGTGT 0.517000 25 20 0 0 1 0 0 SNAP91 9892 broad.mit.edu 37 6 84371301 84371301 + Missense_Mutation SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:84371301T>C ENST00000428679.2 - 5 965 c.372A>G c.(370-372)atA>atG p.I124M SNAP91_ENST00000521485.1_Missense_Mutation_p.I124M|SNAP91_ENST00000521743.1_Missense_Mutation_p.I124M|SNAP91_ENST00000439399.2_Missense_Mutation_p.I124M|SNAP91_ENST00000195649.6_Missense_Mutation_p.I124M|SNAP91_ENST00000520302.1_Missense_Mutation_p.I124M|SNAP91_ENST00000437520.1_Missense_Mutation_p.I124M|SNAP91_ENST00000369694.2_Missense_Mutation_p.I124M|SNAP91_ENST00000520213.1_Missense_Mutation_p.I124M O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 124 ENTH. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) TATAGCGCCTTATGAAGGTAG 0.328000 13 31 0 0 1 0 0 SPATA31A3 727830 broad.mit.edu 37 9 40704232 40704232 + Nonsense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr9:40704232C>A ENST00000356699.5 + 4 1918 c.1889C>A c.(1888-1890)tCa>tAa p.S630* NM_001083124.1 NP_001076593.1 SPATA31 subfamily A, member 3 CAGGACGAATCACCAGGGACA 0.527000 36 12 5.43694e-19 7.44076e-19 1 1 0 PDE1C 5137 broad.mit.edu 37 7 31904566 31904566 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:31904566G>T ENST00000396184.3 - 8 944 c.740C>A c.(739-741)aCa>aAa p.T247K PDE1C_ENST00000396182.2_Missense_Mutation_p.T247K|PDE1C_ENST00000396193.1_Missense_Mutation_p.T307K|PDE1C_ENST00000321453.7_Missense_Mutation_p.T247K|PDE1C_ENST00000396191.1_Missense_Mutation_p.T247K NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 247 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CGCCACTCCTGTCTTATAGAG 0.463000 26 45 9.86323e-18 1.33267e-17 1 1 0 RNF111 54778 broad.mit.edu 37 15 59323323 59323323 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr15:59323323G>T ENST00000348370.4 + 2 735 c.302G>T c.(301-303)gGc>gTc p.G101V RNF111_ENST00000559209.1_Missense_Mutation_p.G101V|RNF111_ENST00000434298.1_Missense_Mutation_p.G101V|RNF111_ENST00000557998.1_Missense_Mutation_p.G101V|RNF111_ENST00000561186.1_Missense_Mutation_p.G101V NM_001270528.1|NM_001270529.1|NM_017610.7 NP_001257457.1|NP_001257458.1|NP_060080.6 Q6ZNA4 RN111_HUMAN ring finger protein 111 101 multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all cancers(107;0.194) CAGCAGGCTGGCCCTTCGTAT 0.413000 32 15 1.39806e-14 1.8421e-14 1 1 0 NEK5 341676 broad.mit.edu 37 13 52646088 52646088 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr13:52646088G>A ENST00000355568.4 - 21 2055 c.1916C>T c.(1915-1917)cCa>cTa p.P639L NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 639 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) ACCTGCTTCTGGGCAGTGAAG 0.403000 24 5 0 0 1 0 0 DUSP13 51207 broad.mit.edu 37 10 76868851 76868851 + Missense_Mutation SNP A A G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr10:76868851A>G ENST00000372702.3 - 1 128 c.65T>C c.(64-66)cTg>cCg p.L22P DUSP13_ENST00000607131.1_5'UTR|DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000372700.3_Missense_Mutation_p.L22P Q6B8I1 MDSP_HUMAN dual specificity phosphatase 13 22 cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 8 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) CTCCAGCTCCAGGATGCTGGG 0.632000 17 13 0 0 1 0 0 ODAM 54959 broad.mit.edu 37 4 71068474 71068474 + Splice_Site SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr4:71068474C>T ENST00000396094.2 + 9 698 c.648_splice c.e9-1 p.S217_splice NM_017855.3 NP_060325.3 A1E959 ODAM_HUMAN odontogenic, ameloblast asssociated 217 biomineral tissue development|odontogenesis of dentine-containing tooth fibril NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2) 20 TCTCTGTAGTCAACAGGAGAA 0.388000 5 8 0 0 1 0 0 FA2H 79152 broad.mit.edu 37 16 74761162 74761162 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr16:74761162C>A ENST00000219368.3 - 3 555 c.486G>T c.(484-486)gaG>gaT p.E162D FA2H_ENST00000544337.1_Intron NM_024306.4 NP_077282.3 Q7L5A8 FA2H_HUMAN fatty acid 2-hydroxylase 162 cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport endoplasmic reticulum membrane|integral to membrane|microsome heme binding|oxidoreductase activity endometrium(2)|large_intestine(4)|lung(3)|skin(1) 10 TAGAGAGGCCCTCAATGAGGT 0.587000 9 17 0.00448238 0.0047319 1 1 0 ELAC1 55520 broad.mit.edu 37 18 48510764 48510764 + Missense_Mutation SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr18:48510764A>T ENST00000269466.3 + 3 563 c.456A>T c.(454-456)caA>caT p.Q152H ELAC1_ENST00000588577.1_Intron|RP11-729L2.2_ENST00000588256.1_Intron|RP11-729L2.2_ENST00000590722.2_Intron|ELAC1_ENST00000591429.1_Missense_Mutation_p.Q152H|SMAD4_ENST00000452201.2_Intron NM_018696.2 NP_061166.1 Q9H777 RNZ1_HUMAN elaC ribonuclease Z 1 152 tRNA 3'-trailer cleavage nucleus endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding kidney(1)|large_intestine(4)|prostate(1) 6 Colorectal(6;0.0269)|all_epithelial(6;0.0729) Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18) AAGAGGAACAAGGAAGAACTA 0.403000 17 11 0 0 1 0 0 GPR1 2825 broad.mit.edu 37 2 207041089 207041089 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:207041089G>C ENST00000407325.2 - 3 1245 c.883C>G c.(883-885)Ctc>Gtc p.L295V GPR1_ENST00000437420.1_Missense_Mutation_p.L295V NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3 NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2 P46091 GPR1_HUMAN G protein-coupled receptor 1 295 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 18 Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888) UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184) CAACTATTGAGGAATGCCAAA 0.468000 8 25 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28408273 28408273 + Silent SNP C C A rs142209264 TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr15:28408273C>A ENST00000261609.7 - 69 10821 c.10713G>T c.(10711-10713)gcG>gcT p.A3571A NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3571 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CGGAAAGCACCGCGGAGAGCA 0.647000 4 54 0.150653 0.153251 1 1 0 POC1B 282809 broad.mit.edu 37 12 89819073 89819073 + Silent SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr12:89819073T>C ENST00000393179.4 - 9 1420 c.807A>G c.(805-807)ccA>ccG p.P269P POC1B_ENST00000549504.1_3'UTR|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000313546.3_Silent_p.P399P|POC1B_ENST00000549035.1_Silent_p.P357P|POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000378528.2_3'UTR POC1 centriolar protein B endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 14 GCAAACATTCTGGTGACATTA 0.448000 44 55 0 0 1 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55381332 55381332 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:55381332G>A ENST00000398661.2 - 5 588 c.457C>T c.(457-459)Cct>Tct p.P153S HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000428842.1_Intron|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.P123S|HMGCLL1_ENST00000370850.2_Intron NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 153 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) TGAAGATTAGGAGTAAGGACA 0.333000 27 28 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142718516 142718516 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chrX:142718516G>C ENST00000381779.4 - 2 634 c.409C>G c.(409-411)Cag>Gag p.Q137E SLITRK4_ENST00000338017.4_Missense_Mutation_p.Q137E|SLITRK4_ENST00000356928.1_Missense_Mutation_p.Q137E NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 137 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TAGTCAGCCTGGAGATACTCC 0.388000 49 16 0 0 1 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62442634 62442634 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:62442634G>C ENST00000281156.4 - 7 1124 c.846C>G c.(844-846)gaC>gaG p.D282E NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 282 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) CATAGGTCTGGTCATCATATT 0.378000 16 48 0 0 1 0 0 BAIAP2 10458 broad.mit.edu 37 17 79080653 79080653 + Silent SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:79080653G>T ENST00000321300.6 + 12 1539 c.1446G>T c.(1444-1446)acG>acT p.T482T BAIAP2_ENST00000575712.1_Silent_p.T482T|BAIAP2_ENST00000428708.2_Silent_p.T482T|BAIAP2_ENST00000321280.7_Silent_p.T482T|BAIAP2_ENST00000416299.2_Silent_p.T345T|BAIAP2_ENST00000392411.3_Silent_p.T404T|BAIAP2_ENST00000435091.3_Silent_p.T482T|BAIAP2_ENST00000575245.1_Silent_p.T515T NM_001144888.1|NM_017451.2 NP_001138360.1|NP_059345.1 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 482 axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1) 18 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CCGCCCAGACGGCCAGCGGCT 0.716000 6 21 3.59834e-05 4.00569e-05 1 1 0 FBN1 2200 broad.mit.edu 37 15 48797310 48797310 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr15:48797310C>A ENST00000316623.5 - 16 2327 c.1872G>T c.(1870-1872)atG>atT p.M624I NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 624 EGF-like 10; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) AACGCCCATTCATGCAGATCC 0.443000 5 52 0.000602214 0.00064732 1 1 0 OR4C12 283093 broad.mit.edu 37 11 50003881 50003881 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:50003881G>T ENST00000335238.4 - 1 190 c.157C>A c.(157-159)Ctg>Atg p.L53M NM_001005270.2 NP_001005270.1 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, member 12 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 GGGGAGCTCAGAGCCTGGCTG 0.418000 11 27 3.07112e-06 3.46971e-06 1 1 0 SYCP1 6847 broad.mit.edu 37 1 115401315 115401315 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:115401315G>C ENST00000369522.3 + 6 679 c.439G>C c.(439-441)Gcc>Ccc p.A147P SYCP1_ENST00000369518.1_Missense_Mutation_p.A147P NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 147 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCGAAAAGCCATTCAGGA 0.313000 39 54 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189868855 189868855 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:189868855G>T ENST00000304636.3 + 39 2979 c.2809G>T c.(2809-2811)Gcc>Tcc p.A937S COL3A1_ENST00000317840.5_Intron NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 937 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) ATCGCCTGGTGCCCAGGGCCC 0.473000 7 17 1.12685e-05 1.25705e-05 1 1 0 GAS6 2621 broad.mit.edu 37 13 114535790 114535790 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr13:114535790C>G ENST00000357389.3 - 9 1051 c.899G>C c.(898-900)cGt>cCt p.R300P GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000327773.6_Intron|GAS6_ENST00000450766.1_Intron|GAS6_ENST00000418959.3_5'UTR|GAS6_ENST00000355761.4_Intron Q14393 GAS6_HUMAN growth arrest-specific 6 300 cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4)|ovary(1) 5 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) CTGAGCCCCACGCCCCGGCCG 0.716000 24 9 0 0 1 0 0 RANBP6 26953 broad.mit.edu 37 9 6013855 6013855 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr9:6013855C>G ENST00000259569.5 - 1 1763 c.1753G>C c.(1753-1755)Gca>Cca p.A585P RANBP6_ENST00000485372.1_5'UTR NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 585 protein transport cytoplasm|nucleus binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) ACATTTGATGCATCTTGCATA 0.413000 69 37 0 0 1 0 0 KIF27 55582 broad.mit.edu 37 9 86518413 86518413 + Silent SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr9:86518413G>A ENST00000297814.2 - 4 1163 c.1020C>T c.(1018-1020)aaC>aaT p.N340N KIF27_ENST00000413982.1_Silent_p.N340N|KIF27_ENST00000334204.2_Silent_p.N340N NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 340 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 TGTTTCTAATGTTCCGTGCTC 0.438000 28 68 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14378328 14378328 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:14378328C>A ENST00000403951.2 - 23 2356 c.1937G>T c.(1936-1938)gGa>gTa p.G646V DGKB_ENST00000407950.1_Missense_Mutation_p.G638V|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.G646V|DGKB_ENST00000258767.5_Missense_Mutation_p.G646V|DGKB_ENST00000402815.1_Missense_Mutation_p.G645V|DGKB_ENST00000444700.2_Missense_Mutation_p.G627V|DGKB_ENST00000406247.3_Missense_Mutation_p.G646V Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 646 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) TATCTGTACTCCATCACACTG 0.338000 11 15 3.86212e-05 4.28139e-05 1 1 0 NOTCH3 4854 broad.mit.edu 37 19 15295221 15295221 + Silent SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:15295221G>A ENST00000263388.2 - 16 2526 c.2451C>T c.(2449-2451)ccC>ccT p.P817P NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 817 EGF-like 21; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CACAGGGTGCGGGGCCAGCAC 0.612000 16 40 0 0 1 0 0 NYAP1 222950 broad.mit.edu 37 7 100087211 100087211 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:100087211G>T ENST00000423930.1 + 4 2026 c.1867G>T c.(1867-1869)Ggc>Tgc p.G623C NYAP1_ENST00000300179.2_Missense_Mutation_p.G623C|NYAP1_ENST00000454988.1_Missense_Mutation_p.G566C Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 623 AGAGGAGGTGGGCGCCGCGAC 0.627000 22 30 1.22574e-08 1.47589e-08 1 1 0 TNN 63923 broad.mit.edu 37 1 175066654 175066654 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:175066654C>T ENST00000239462.4 + 8 1803 c.1690C>T c.(1690-1692)Cgc>Tgc p.R564C NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 564 Fibronectin type-III 4. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix p.R564C(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GTACGTGGTGCGCTACACCTC 0.587000 4 27 0 0 1 0 0 STXBP5 134957 broad.mit.edu 37 6 147556394 147556394 + Missense_Mutation SNP G G A rs144000289 TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:147556394G>A ENST00000367481.3 + 3 365 c.257G>A c.(256-258)cGt>cAt p.R86H STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000367480.3_Missense_Mutation_p.R86H|STXBP5_ENST00000321680.6_Missense_Mutation_p.R86H|STXBP5_ENST00000546097.1_Missense_Mutation_p.R86H NM_139244.4 NP_640337.3 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) 86 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) AGCTTTGGTCGTCCAGGAGTA 0.363000 13 20 0 0 1 0 0 CLEC4D 338339 broad.mit.edu 37 12 8670768 8670768 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr12:8670768C>A ENST00000299665.2 + 3 323 c.130C>A c.(130-132)Cac>Aac p.H44N NM_080387.4 NP_525126.2 Q8WXI8 CLC4D_HUMAN C-type lectin domain family 4, member D 44 innate immune response integral to membrane sugar binding large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Lung SC(5;0.184) AGTGACTCATCACAACTTTTC 0.393000 9 7 6.40141e-05 7.05218e-05 1 1 0 ZNF100 163227 broad.mit.edu 37 19 21910214 21910214 + Silent SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:21910214C>T ENST00000358296.6 - 5 1098 c.900G>A c.(898-900)cgG>cgA p.R300R ZNF100_ENST00000305570.6_Silent_p.R236R NM_173531.3 NP_775802.2 Q8IYN0 ZN100_HUMAN zinc finger protein 100 300 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 21 GGTGTGAAGACCGGTTAAAAG 0.398000 33 44 0 0 1 0 0 MSH4 4438 broad.mit.edu 37 1 76288149 76288149 + Nonsense_Mutation SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:76288149A>T ENST00000263187.3 + 7 1149 c.1045A>T c.(1045-1047)Aga>Tga p.R349* NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 349 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 TGGAGGGAGTAGACGACTTCG 0.338000 Mismatch excision repair (MMR) 26 42 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14024105 14024105 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:14024105G>T ENST00000318003.7 + 5 744 c.503G>T c.(502-504)cGg>cTg p.R168L CC2D1A_ENST00000589606.1_Missense_Mutation_p.R168L NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 168 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) CGCTACGATCGGGGGCTTAAA 0.607000 7 21 1.06961e-07 1.25656e-07 1 1 0 TMX2 51075 broad.mit.edu 37 11 57480109 57480109 + Silent SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:57480109C>T ENST00000278422.4 + 1 31 c.19C>T c.(19-21)Cta>Tta p.L7L TMX2_ENST00000378312.4_Silent_p.L7L|TMX2-CTNND1_ENST00000528395.1_Silent_p.L7L NM_015959.3 NP_057043.1 Q9Y320 TMX2_HUMAN thioredoxin-related transmembrane protein 2 7 cell redox homeostasis integral to membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2) 12 CTTGGCACCTCTAATTGCTCT 0.602000 6 8 0 0 1 0 0 CSF2RB 1439 broad.mit.edu 37 22 37334105 37334105 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr22:37334105C>A ENST00000262825.5 + 14 2490 c.2273C>A c.(2272-2274)cCc>cAc p.P758H CSF2RB_ENST00000406230.1_Missense_Mutation_p.P758H|CSF2RB_ENST00000403662.3_Missense_Mutation_p.P752H|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P699H NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 752 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) GCCAGTGGACCCCCTGGAGCC 0.627000 23 26 6.44725e-10 7.98017e-10 1 1 0 MAPK10 5602 broad.mit.edu 37 4 87019718 87019718 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr4:87019718C>T ENST00000395169.3 - 9 1367 c.647G>A c.(646-648)gGa>gAa p.G216E MAPK10_ENST00000395160.3_Missense_Mutation_p.G109E|MAPK10_ENST00000361569.2_Missense_Mutation_p.G254E|MAPK10_ENST00000359221.3_Missense_Mutation_p.G254E|MAPK10_ENST00000395157.3_Missense_Mutation_p.G109E|MAPK10_ENST00000395161.2_Missense_Mutation_p.G254E|MAPK10_ENST00000449047.2_Intron|MAPK10_ENST00000395166.1_Missense_Mutation_p.G216E NM_138980.2|NM_138982.2 NP_620446.1|NP_620448.1 P53779 MK10_HUMAN mitogen-activated protein kinase 10 254 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding breast(1)|central_nervous_system(1)|stomach(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) AACCATTTCTCCCATAATGCA 0.413000 21 29 0 0 1 0 0 SLC18A3 6572 broad.mit.edu 37 10 50819629 50819629 + Silent SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr10:50819629C>A ENST00000374115.3 + 1 1283 c.843C>A c.(841-843)ccC>ccA p.P281P CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 281 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 TGGGCACTCCCATCCACCGCC 0.647000 27 10 2.24059e-21 3.1475e-21 1 1 0 STAT4 6775 broad.mit.edu 37 2 191929664 191929664 + Silent SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:191929664G>T ENST00000392320.2 - 8 965 c.651C>A c.(649-651)acC>acA p.T217T STAT4_ENST00000358470.4_Silent_p.T217T NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 217 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) GGATGATTTGGGTCATTTTAC 0.433000 58 88 2.22609e-26 3.19473e-26 1 1 0 CUBN 8029 broad.mit.edu 37 10 17113555 17113555 + Missense_Mutation SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr10:17113555A>T ENST00000377833.4 - 19 2560 c.2495T>A c.(2494-2496)tTt>tAt p.F832Y NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 832 CUB 4. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CACGTTAGGAAAAAAAGGCGA 0.418000 30 11 0 0 1 0 0 CALCA 796 broad.mit.edu 37 11 14990424 14990424 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:14990424G>T ENST00000331587.4 - 4 465 c.347C>A c.(346-348)cCt>cAt p.P116H CALCA_ENST00000359642.3_Missense_Mutation_p.P116H|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000361010.3_Intron|CALCA_ENST00000396372.2_Missense_Mutation_p.P116H|CALCA_ENST00000486207.1_Intron NM_001741.2 NP_001732.1 P06881 CALCA_HUMAN calcitonin-related polypeptide alpha 119 activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation cytosol|extracellular space hormone activity central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 8 Phentolamine(DB00692) TTTCTTTCCAGGTGCTCCAAC 0.507000 30 54 3.11337e-16 4.14336e-16 1 1 0 SSPO 23145 broad.mit.edu 37 7 149506177 149506177 + RNA SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:149506177G>C ENST00000378016.2 + 0 9169 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CGTGCCCTGTGGTGGTGGCTA 0.701000 4 3 0 0 1 0 0 CYTIP 9595 broad.mit.edu 37 2 158272365 158272365 + Missense_Mutation SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:158272365T>C ENST00000264192.3 - 8 1025 c.904A>G c.(904-906)Aac>Gac p.N302D CYTIP_ENST00000540637.1_Missense_Mutation_p.N196D NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 302 Ser-rich. regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 ATGCTCCGGTTCCTCCTTGAA 0.552000 24 40 0 0 1 0 0 FCGRT 2217 broad.mit.edu 37 19 50029346 50029346 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:50029346G>T ENST00000221466.5 + 7 1554 c.1068G>T c.(1066-1068)aaG>aaT p.K356N FCGRT_ENST00000426395.3_Missense_Mutation_p.K356N|FCGRT_ENST00000596975.1_Missense_Mutation_p.K264N|FCGRT_ENST00000599988.1_Missense_Mutation_p.K90N NM_001136019.2 NP_001129491.1 P55899 FCGRN_HUMAN Fc fragment of IgG, receptor, transporter, alpha 356 antigen processing and presentation|female pregnancy|immune response integral to membrane|MHC class I protein complex IgG binding|receptor activity endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 9 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156) CTGATTTGAAGGATGTAAATG 0.582000 52 85 2.01807e-28 2.90405e-28 1 1 0 NCAPD3 23310 broad.mit.edu 37 11 134062790 134062790 + Silent SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:134062790G>A ENST00000534548.2 - 16 1903 c.1839C>T c.(1837-1839)tgC>tgT p.C613C NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 613 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) GGATCTGCACGCATCTAGGCT 0.502000 28 37 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208211756 208211756 + Missense_Mutation SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:208211756T>C ENST00000367033.3 - 26 5481 c.4724A>G c.(4723-4725)gAg>gGg p.E1575G NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 1575 axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) CCAGTCACCCTCAATCTTGGT 0.602000 21 59 0 0 1 0 0 PROL1 58503 broad.mit.edu 37 4 71275771 71275771 + Missense_Mutation SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr4:71275771A>T ENST00000399575.2 + 3 900 c.726A>T c.(724-726)aaA>aaT p.K242N NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 242 regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) TTTGGCAAAAACTCTTTGCCA 0.378000 8 25 0 0 1 0 0 PRICKLE1 144165 broad.mit.edu 37 12 42853645 42853645 + Missense_Mutation SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr12:42853645T>C ENST00000455697.1 - 8 2747 c.2462A>G c.(2461-2463)aAg>aGg p.K821R PRICKLE1_ENST00000345127.3_Missense_Mutation_p.K821R|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.K821R|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.K821R|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.K821R|RP11-328C8.4_ENST00000547824.1_RNA NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 821 Poly-Lys. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) CTTGTGTCCCTTTTTCTTCTT 0.403000 5 95 0 0 1 0 0 HOXD4 3233 broad.mit.edu 37 2 177017513 177017513 + Missense_Mutation SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:177017513A>T ENST00000306324.3 + 2 1023 c.611A>T c.(610-612)aAc>aTc p.N204I HOXD3_ENST00000468418.3_5'UTR NM_014621.2 NP_055436.2 P09016 HXD4_HUMAN homeobox D4 204 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) TGGTTCCAGAACCGGAGGATG 0.502000 25 52 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7584228 7584228 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:7584228G>C ENST00000379802.3 + 24 7074 c.6733G>C c.(6733-6735)Gag>Cag p.E2245Q DSP_ENST00000418664.2_Missense_Mutation_p.E1646Q NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2245 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TTCTTATGACGAGGTTGGTGA 0.448000 18 18 0 0 1 0 0 ZBTB4 57659 broad.mit.edu 37 17 7370046 7370046 + Silent SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:7370046G>T ENST00000311403.4 - 3 414 c.75C>A c.(73-75)ctC>ctA p.L25L ZBTB4_ENST00000380599.4_Silent_p.L25L NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 25 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) AGAGGCCACGGAGCCGCTGTT 0.647000 8 1 5.18039e-06 5.81562e-06 1 1 0 BAGE2 85319 broad.mit.edu 37 21 11038825 11038825 + RNA SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr21:11038825C>T ENST00000470054.1 - 0 1378 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAGTTGTTGGCATGATGTTTC 0.453000 16 188 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 286539 286539 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr9:286539C>T ENST00000432829.2 + 3 347 c.31C>T c.(31-33)Ctt>Ttt p.L11F DOCK8_ENST00000469391.1_Missense_Mutation_p.L11F|DOCK8_ENST00000453981.1_Missense_Mutation_p.L79F NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 79 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GGATGTGCAGCTTGCCCAGGA 0.547000 15 6 0 0 1 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62887155 62887155 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:62887155C>A ENST00000281156.4 - 2 432 c.154G>T c.(154-156)Gtc>Ttc p.V52F NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 52 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) TTGCTGATGACATCAAGATAC 0.333000 7 13 2.0095e-06 2.28489e-06 1 1 0 SLITRK4 139065 broad.mit.edu 37 X 142717766 142717766 + Missense_Mutation SNP T T A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chrX:142717766T>A ENST00000381779.4 - 2 1384 c.1159A>T c.(1159-1161)Aat>Tat p.N387Y SLITRK4_ENST00000338017.4_Missense_Mutation_p.N387Y|SLITRK4_ENST00000356928.1_Missense_Mutation_p.N387Y NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 387 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TTGATGCTATTGCCATTGACG 0.408000 53 27 0 0 1 0 0 SLC16A1 6566 broad.mit.edu 37 1 113460416 113460416 + Silent SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:113460416C>T ENST00000538576.1 - 4 1443 c.612G>A c.(610-612)aaG>aaA p.K204K SLC16A1_ENST00000433570.4_Silent_p.K204K|SLC16A1_ENST00000369626.3_Silent_p.K204K NM_001166496.1 NP_001159968.1 P53985 MOT1_HUMAN solute carrier family 16 (monocarboxylate transporter), member 1 204 K -> E (in SDLT). blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1) 20 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) CTTTCCCTGCCTTGGTTGGCT 0.463000 14 29 0 0 1 0 0 MTMR14 64419 broad.mit.edu 37 3 9695347 9695347 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr3:9695347G>C ENST00000296003.4 + 2 324 c.202G>C c.(202-204)Gac>Cac p.D68H MTMR14_ENST00000351233.5_Missense_Mutation_p.D68H|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Missense_Mutation_p.D68H NM_001077525.2 NP_001070993.1 Q8NCE2 MTMRE_HUMAN myotubularin related protein 14 68 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 21 Medulloblastoma(99;0.227) GTTTGGCCGAGACTACTGTTT 0.498000 10 40 0 0 1 0 0 ALDOC 230 broad.mit.edu 37 17 26902194 26902194 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:26902194C>T ENST00000226253.4 - 3 746 c.271G>A c.(271-273)Ggt>Agt p.G91S ALDOC_ENST00000395321.2_Missense_Mutation_p.G91S|ALDOC_ENST00000395319.3_Missense_Mutation_p.G91S NM_005165.2 NP_005156.1 P09972 ALDOC_HUMAN aldolase C, fructose-bisphosphate 91 fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis cytosol cytoskeletal protein binding|fructose-bisphosphate aldolase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Lung NSC(42;0.00431) AAGGGAACACCATTATCATCT 0.522000 OREG0024278 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 36 0 0 1 0 0 FAM160A2 84067 broad.mit.edu 37 11 6244316 6244316 + Silent SNP T T A rs145608756 TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:6244316T>A ENST00000265978.4 - 4 1288 c.930A>T c.(928-930)gtA>gtT p.V310V FAM160A2_ENST00000524416.1_Silent_p.V310V|FAM160A2_ENST00000449352.2_Silent_p.V310V NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 310 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CTACCTGAATTACTGCATTGC 0.507000 50 101 0 0 1 0 0 ZNF93 81931 broad.mit.edu 37 19 20045066 20045066 + Missense_Mutation SNP T T A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:20045066T>A ENST00000343769.5 + 4 1330 c.1302T>A c.(1300-1302)ttT>ttA p.F434L AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 434 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 24 GCAAAGCCTTTGTTGCATCCT 0.413000 32 45 0 0 1 0 0 KCNV1 27012 broad.mit.edu 37 8 110984518 110984518 + Silent SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr8:110984518C>A ENST00000524391.1 - 3 1992 c.960G>T c.(958-960)ctG>ctT p.L320L KCNV1_ENST00000297404.1_Silent_p.L320L Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 320 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) TTAGCATGCGCAGAGCCCTGA 0.507000 9 23 0.000274275 0.000299056 1 1 0 CSN2 1447 broad.mit.edu 37 4 70823093 70823093 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr4:70823093G>A ENST00000353151.3 - 5 585 c.574C>T c.(574-576)Cct>Tct p.P192S NM_001891.2 NP_001882.1 P05814 CASB_HUMAN casein beta 192 calcium ion transport extracellular region calcium ion binding|enzyme inhibitor activity|transporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2) 12 GCTTGAACAGGCACAGCTCTC 0.557000 9 15 0 0 1 0 0 RNF183 138065 broad.mit.edu 37 9 116060063 116060063 + Silent SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr9:116060063C>A ENST00000478815.1 - 1 1982 c.402G>T c.(400-402)acG>acT p.T134T RNF183_ENST00000441031.3_Silent_p.T134T|RNF183_ENST00000416588.2_Silent_p.T134T|RNF183_ENST00000297894.5_Silent_p.T134T Q96D59 RN183_HUMAN ring finger protein 183 134 integral to membrane zinc ion binding lung(1)|prostate(1)|skin(1) 3 TGGCAGAGGCCGTGTCTGGGG 0.642000 38 30 2.04263e-09 2.49917e-09 1 1 0 C3orf56 285311 broad.mit.edu 37 3 126916057 126916057 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr3:126916057G>T ENST00000398112.1 + 2 769 c.529G>T c.(529-531)Gct>Tct p.A177S NM_001007534.2 NP_001007535.1 chromosome 3 open reading frame 56 breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) ATCCAGAGGAGCTCCCTACTT 0.642000 29 9 1.17739e-12 1.52116e-12 1 1 0 COL5A1 1289 broad.mit.edu 37 9 137591783 137591783 + Silent SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr9:137591783C>A ENST00000371817.3 + 3 720 c.306C>A c.(304-306)atC>atA p.I102I COL5A1_ENST00000464187.1_3'UTR NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 102 Laminin G-like.|TSP N-terminal. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) ACTTCTCCATCCTAACAACTG 0.587000 18 65 0.204396 0.206339 1 1 0 AGAP2 116986 broad.mit.edu 37 12 58131112 58131112 + Silent SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr12:58131112G>A ENST00000547588.1 - 1 917 c.918C>T c.(916-918)acC>acT p.T306T AGAP2_ENST00000257897.3_Intron NM_001122772.2 NP_001116244.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 306 Interaction with PLCG1 (By similarity). axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 CGGAAGCAGCGGTGACAGCAG 0.677000 26 28 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131861907 131861907 + Silent SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr8:131861907G>T ENST00000286355.5 - 10 4445 c.2353C>A c.(2353-2355)Cgg>Agg p.R785R ADCY8_ENST00000377928.3_Intron NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 785 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) ATGACGTTCCGGGCCAAATAG 0.468000 HNSCC(32;0.087) 20 40 3.62473e-10 4.50757e-10 1 1 0 SLC25A25 114789 broad.mit.edu 37 9 130865985 130865985 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr9:130865985C>G ENST00000373066.5 + 6 1015 c.608C>G c.(607-609)aCg>aGg p.T203R SLC25A25_ENST00000433501.1_Missense_Mutation_p.T68R|SLC25A25_ENST00000432073.2_Missense_Mutation_p.T191R|SLC25A25_ENST00000373068.2_Missense_Mutation_p.T205R|SLC25A25_ENST00000373069.5_Missense_Mutation_p.T217R|SLC25A25_ENST00000373064.5_Missense_Mutation_p.T171R NM_001265614.2 NP_001252543.1 Q6KCM7 SCMC2_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 171 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3) 10 GAGAATCTAACGGTCCCGGAT 0.602000 4 83 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546454 11546454 + Missense_Mutation SNP T T A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr12:11546454T>A ENST00000389362.4 - 3 593 c.558A>T c.(556-558)caA>caT p.Q186H 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) GGTTGCCTCCTTGTGGGGGTG 0.607000 6 365 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179475027 179475027 + Nonsense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:179475027C>A ENST00000589042.1 - 271 51450 c.51226G>T c.(51226-51228)Gga>Tga p.G17076* TTN_ENST00000359218.5_Nonsense_Mutation_p.G8136*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.G8203*|TTN_ENST00000591111.1_Nonsense_Mutation_p.G15435*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.G8011*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.G14508*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15435 Ig-like 102. 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) ATTGGGGTTCCACCATCAAAT 0.423000 14 105 3.27435e-08 3.89839e-08 1 1 0 PODN 127435 broad.mit.edu 37 1 53535790 53535790 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:53535790G>T ENST00000371500.3 + 4 691 c.350G>T c.(349-351)cGt>cTt p.R117L PODN_ENST00000395871.2_Missense_Mutation_p.R136L|PODN_ENST00000312553.5_Missense_Mutation_p.R136L|RP11-334A14.5_ENST00000447867.1_RNA NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 88 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding p.R136L(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 ATTGACCTGCGTGAGTTCCCG 0.677000 20 41 0.00229938 0.00243706 1 1 0 HIST1H1C 3006 broad.mit.edu 37 6 26056301 26056301 + Missense_Mutation SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:26056301T>C ENST00000343677.2 - 1 398 c.356A>G c.(355-357)aAg>aGg p.K119R NM_005319.3 NP_005310.1 P16403 H12_HUMAN histone cluster 1, H1c 119 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 34 CTTTTTAACCTTGGGCTTGGC 0.582000 33 69 0 0 1 0 0 SLC41A1 254428 broad.mit.edu 37 1 205779303 205779303 + Silent SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:205779303G>A ENST00000367137.3 - 2 1281 c.267C>T c.(265-267)tcC>tcT p.S89S NM_173854.4 NP_776253.3 Q8IVJ1 S41A1_HUMAN solute carrier family 41 (magnesium transporter), member 1 89 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 17 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) CCTTGAGCGGGGAAGGTGGCG 0.622000 27 39 0 0 1 0 0 SLC30A10 55532 broad.mit.edu 37 1 220091794 220091794 + Missense_Mutation SNP A A G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:220091794A>G ENST00000366926.3 - 3 922 c.761T>C c.(760-762)gTt>gCt p.V254A SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.V9A NM_018713.2 NP_061183.2 Q6XR72 ZNT10_HUMAN solute carrier family 30, member 10 254 Poly-Val. zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) GATGACCACAACCACGGACCC 0.527000 25 64 0 0 1 0 0 GNAL 2774 broad.mit.edu 37 18 11872270 11872270 + Nonsense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr18:11872270G>A ENST00000334049.6 + 10 1643 c.1035G>A c.(1033-1035)tgG>tgA p.W345* GNAL_ENST00000535121.1_Nonsense_Mutation_p.W268*|GNAL_ENST00000535980.1_3'UTR|GNAL_ENST00000423027.3_Nonsense_Mutation_p.W268*|GNAL_ENST00000269162.5_Nonsense_Mutation_p.W268*|GNAL_ENST00000602628.1_Nonsense_Mutation_p.W61* NM_182978.3 NP_892023.1 P38405 GNAL_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 268 activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission heterotrimeric G-protein complex adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1) 12 TTTTTAGGTGGTTACGGACCA 0.333000 19 78 0 0 1 0 0 APOA4 337 broad.mit.edu 37 11 116692027 116692027 + Silent SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:116692027G>A ENST00000357780.3 - 3 861 c.747C>T c.(745-747)gcC>gcT p.A249A NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) TGAGCTCCTCGGCGTTCTTCT 0.657000 28 40 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 19914117 19914117 + Missense_Mutation SNP C C T rs145926987 TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:19914117C>T ENST00000396085.1 + 6 1269 c.908C>T c.(907-909)cCa>cTa p.P303L NAV2_ENST00000349880.4_Missense_Mutation_p.P303L|NAV2_ENST00000527559.2_Missense_Mutation_p.P255L|NAV2_ENST00000360655.4_Missense_Mutation_p.P239L|NAV2_ENST00000540292.1_Missense_Mutation_p.P257L|NAV2_ENST00000396087.3_Missense_Mutation_p.P326L NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 326 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TCCCCACCCCCACCGCCAAGC 0.517000 12 24 0 0 1 0 0 TXNDC2 84203 broad.mit.edu 37 18 9887311 9887311 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr18:9887311C>A ENST00000306084.6 + 2 1034 c.835C>A c.(835-837)Ccc>Acc p.P279T TXNDC2_ENST00000357775.4_Missense_Mutation_p.P212T|TXNDC2_ENST00000536353.2_Intron NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 279 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GCCCAGCCAGCCCAAGGAGGG 0.602000 44 146 3.4587e-08 4.10866e-08 1 1 0 TNS3 64759 broad.mit.edu 37 7 47440030 47440030 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:47440030C>A ENST00000398879.1 - 15 1245 c.879G>T c.(877-879)aaG>aaT p.K293N TNS3_ENST00000355730.3_Intron|TNS3_ENST00000311160.9_Missense_Mutation_p.K293N Q68CZ2 TENS3_HUMAN tensin 3 293 C2 tensin-type. 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 CTAATTCAACCTTCCCATAGT 0.428000 8 37 1.76689e-08 2.11788e-08 1 1 0 TRIM38 10475 broad.mit.edu 37 6 25983648 25983648 + Silent SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:25983648G>A ENST00000357085.3 + 8 1607 c.1131G>A c.(1129-1131)gaG>gaA p.E377E TRIM38_ENST00000349458.3_Silent_p.E377E NM_006355.3 NP_006346.1 O00635 TRI38_HUMAN tripartite motif containing 38 377 B30.2/SPRY. positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 23 TGAAGCAAGAGCCTCAGTCTG 0.507000 30 43 0 0 1 0 0 CCT6P3 643180 broad.mit.edu 37 7 64498797 64498797 + RNA SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:64498797G>C ENST00000426828.1 + 0 60 NR_033416.1 GGTGGGAGCGGGTGGCCCGGT 0.726000 5 18 0 0 1 0 0 IGKV1D-43 28891 broad.mit.edu 37 2 90249393 90249393 + RNA SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:90249393C>T ENST00000468879.1 + 0 530 TTATAGTACCCCTCCCACAGT 0.517000 70 183 0 0 1 0 0 USP42 84132 broad.mit.edu 37 7 6189454 6189454 + Missense_Mutation SNP A A G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:6189454A>G ENST00000306177.5 + 13 1785 c.1627A>G c.(1627-1629)Agt>Ggt p.S543G NM_032172.2 NP_115548.1 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 543 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 35 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) TAACCTTCATAGTAATTCTTT 0.433000 21 42 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196964875 196964875 + Silent SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:196964875T>C ENST00000367414.5 + 5 764 c.708T>C c.(706-708)ccT>ccC p.P236P CFHR5_ENST00000256785.4_Silent_p.P212P NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 212 Sushi 4. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 GTCCACCTCCTCAACTCTCCA 0.328000 12 19 0 0 1 0 0 MYEF2 50804 broad.mit.edu 37 15 48443749 48443749 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr15:48443749C>A ENST00000324324.7 - 13 1506 c.1227G>T c.(1225-1227)atG>atT p.M409I MYEF2_ENST00000267836.6_Missense_Mutation_p.M409I NM_016132.3 NP_057216.2 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 409 Gly-rich. transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) TGCTACTAGTCATCGCACCAC 0.383000 20 159 2.39556e-15 3.18011e-15 1 1 0 AHDC1 27245 broad.mit.edu 37 1 27876193 27876193 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:27876193C>T ENST00000374011.2 - 6 3402 c.2434G>A c.(2434-2436)Ggc>Agc p.G812S AHDC1_ENST00000247087.5_Missense_Mutation_p.G812S|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 812 Gly-rich. DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) CTGCCACGGCCTGAGGCTCCA 0.652000 21 56 0 0 1 0 0 LANCL2 55915 broad.mit.edu 37 7 55467659 55467659 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:55467659G>T ENST00000254770.2 + 4 1118 c.540G>T c.(538-540)caG>caT p.Q180H LANCL2_ENST00000486376.1_3'UTR NM_018697.3 NP_061167.1 Q9NS86 LANC2_HUMAN LanC lantibiotic synthetase component C-like 2 (bacterial) 180 negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway cortical actin cytoskeleton|cytosol|nucleus|plasma membrane ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 25 Breast(14;0.0379) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706) GACTTTTGCAGCTCCAGAGAT 0.413000 41 46 8.16277e-20 1.13171e-19 1 1 0 CR2 1380 broad.mit.edu 37 1 207652615 207652615 + Silent SNP T T A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:207652615T>A ENST00000367057.3 + 17 3291 c.3102T>A c.(3100-3102)ccT>ccA p.P1034P CR2_ENST00000367059.3_Silent_p.P913P|CR2_ENST00000367058.3_Silent_p.P975P|CR2_ENST00000458541.2_Silent_p.P948P NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 975 complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 CACTTGCTCCTGTCCTTTGTG 0.313000 12 18 0 0 1 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37188126 37188126 + RNA SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:37188126C>A ENST00000425901.2 + 0 1968 NR_033753.2 AAGGTTGAACCGTCTACAGCC 0.522000 37 46 1.4065e-29 2.02948e-29 1 1 0 ZNF827 152485 broad.mit.edu 37 4 146807290 146807290 + Silent SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr4:146807290C>A ENST00000508784.1 - 4 1514 c.1287G>T c.(1285-1287)cgG>cgT p.R429R ZNF827_ENST00000379448.4_Silent_p.R429R|ZNF827_ENST00000513320.1_Silent_p.R79R Q17R98 ZN827_HUMAN zinc finger protein 827 429 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) AGGTCTCTCCCCGATCCTGGT 0.507000 6 17 5.9392e-07 6.84103e-07 1 1 0 MUC17 140453 broad.mit.edu 37 7 100680662 100680662 + Missense_Mutation SNP A A G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:100680662A>G ENST00000306151.4 + 3 6029 c.5965A>G c.(5965-5967)Agt>Ggt p.S1989G NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1989 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.S1989C(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCCACTAACAAGTATGCCTCT 0.512000 135 224 0 0 1 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49284577 49284577 + Missense_Mutation SNP T T G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr15:49284577T>G ENST00000559471.1 - 18 3433 c.3170A>C c.(3169-3171)gAg>gCg p.E1057A SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E1012A NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 1057 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 CTCCAGCACCTCAGGCGCCTC 0.542000 26 14 0 0 1 0 0 APBB1IP 54518 broad.mit.edu 37 10 26789884 26789884 + Silent SNP A A G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr10:26789884A>G ENST00000376236.4 + 5 752 c.297A>G c.(295-297)ctA>ctG p.L99L APBB1IP_ENST00000356785.4_Silent_p.L99L NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 99 blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 CAGCATCTCTACAAGCATCAA 0.473000 17 56 0 0 1 0 0 ECE2 9718 broad.mit.edu 37 3 183994271 183994271 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr3:183994271G>T ENST00000404464.3 + 2 180 c.42G>T c.(40-42)atG>atT p.M14I ECE2_ENST00000402825.3_Intron|ECE2_ENST00000359140.4_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.M14I|EIF2B5_ENST00000444495.1_Intron NM_001100120.1|NM_001100121.1 NP_001093590.1|NP_001093591.1 O60344 ECE2_HUMAN endothelin converting enzyme 2 0 Methyltransferase-like region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCTGGCAGATGGTGGAGTACA 0.687000 11 9 1.58986e-06 1.81552e-06 1 1 0 TAOK3 51347 broad.mit.edu 37 12 118682749 118682749 + Nonsense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr12:118682749C>A ENST00000392533.3 - 4 632 c.142G>T c.(142-144)Gag>Tag p.E48* TAOK3_ENST00000419821.2_Nonsense_Mutation_p.E48* NM_016281.3 NP_057365.3 Q9H2K8 TAOK3_HUMAN TAO kinase 3 48 Protein kinase. MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity central_nervous_system(1)|lung(5)|skin(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCCACCACCTCACTGGTGTGA 0.373000 23 37 9.57634e-11 1.20499e-10 1 1 0 COL8A1 1295 broad.mit.edu 37 3 99513367 99513367 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr3:99513367G>C ENST00000261037.3 + 5 1002 c.622G>C c.(622-624)Ggg>Cgg p.G208R COL8A1_ENST00000273342.4_Missense_Mutation_p.G208R NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 208 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 TCCTGGCATTGGGAAGCCAGG 0.587000 9 33 0 0 1 0 0 IKZF3 22806 broad.mit.edu 37 17 37922660 37922660 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:37922660C>A ENST00000346872.3 - 8 974 c.913G>T c.(913-915)Gac>Tac p.D305Y IKZF3_ENST00000467757.1_Missense_Mutation_p.D249Y|IKZF3_ENST00000350532.3_Missense_Mutation_p.D266Y|IKZF3_ENST00000439016.2_Missense_Mutation_p.D210Y|IKZF3_ENST00000394189.2_Missense_Mutation_p.D123Y|IKZF3_ENST00000583368.1_Missense_Mutation_p.D58Y|IKZF3_ENST00000377944.3_Missense_Mutation_p.D162Y|IKZF3_ENST00000377958.2_Missense_Mutation_p.D218Y|IKZF3_ENST00000351680.3_Missense_Mutation_p.D266Y|IKZF3_ENST00000346243.3_Missense_Mutation_p.D227Y|IKZF3_ENST00000377945.3_Missense_Mutation_p.D171Y|IKZF3_ENST00000439167.2_Missense_Mutation_p.D232Y|IKZF3_ENST00000377952.2_Missense_Mutation_p.D84Y|IKZF3_ENST00000535189.1_Missense_Mutation_p.D271Y NM_012481.4 NP_036613.2 Q9UKT9 IKZF3_HUMAN IKAROS family zinc finger 3 (Aiolos) 305 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) ATGGCTTGGTCCATCATGCGG 0.517000 32 40 3.03874e-20 4.22401e-20 1 1 0 PXDNL 137902 broad.mit.edu 37 8 52370189 52370189 + Missense_Mutation SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr8:52370189A>T ENST00000356297.4 - 9 951 c.851T>A c.(850-852)gTg>gAg p.V284E PXDNL_ENST00000543296.1_Missense_Mutation_p.V284E NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 284 Ig-like C2-type 1. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) ATCATCAAACACATTAAGTCG 0.403000 34 110 0 0 1 0 0 SPATS1 221409 broad.mit.edu 37 6 44337832 44337832 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:44337832C>T ENST00000288390.2 + 6 1087 c.740C>T c.(739-741)cCt>cTt p.P247L SPATS1_ENST00000323108.8_Missense_Mutation_p.P247L Q496A3 SPAS1_HUMAN spermatogenesis associated, serine-rich 1 247 NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1) 14 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CCACTTGAGCCTCTTCCACAA 0.348000 30 32 0 0 1 0 0 EXO5 64789 broad.mit.edu 37 1 40980312 40980312 + Silent SNP A A G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:40980312A>G ENST00000372703.1 + 2 1170 c.96A>G c.(94-96)gaA>gaG p.E32E RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000296380.4_Silent_p.E32E|EXO5_ENST00000358527.2_Silent_p.E32E exonuclease 5 TGGACCTAGAAGATGCCCAAG 0.478000 36 38 0 0 1 0 0 ZNF675 171392 broad.mit.edu 37 19 23836307 23836307 + Silent SNP T T A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:23836307T>A ENST00000359788.4 - 4 1596 c.1428A>T c.(1426-1428)ggA>ggT p.G476G ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron NM_138330.2 NP_612203.2 Q8TD23 ZN675_HUMAN zinc finger protein 675 476 bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) AGGGTATCTCTCCAGAATGAA 0.363000 14 26 0 0 1 0 0 KBTBD12 166348 broad.mit.edu 37 3 127682102 127682102 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr3:127682102C>A ENST00000405109.1 + 5 2030 c.1563C>A c.(1561-1563)aaC>aaA p.N521K KBTBD12_ENST00000405256.1_Missense_Mutation_p.N521K|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000407609.3_Missense_Mutation_p.N128K|KBTBD12_ENST00000343941.4_Missense_Mutation_p.N96K Q3ZCT8 KBTBC_HUMAN kelch repeat and BTB (POZ) domain containing 12 521 endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 AGATCTACAACCCAGATGGGG 0.547000 5 3 0.00198382 0.00210681 1 1 0 CHST2 9435 broad.mit.edu 37 3 142840858 142840858 + Missense_Mutation SNP T T A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr3:142840858T>A ENST00000309575.3 + 2 2584 c.1200T>A c.(1198-1200)aaT>aaA p.N400K NM_004267.4 NP_004258.2 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 400 inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 TCATCTGCAATAGTATGGCTA 0.657000 44 37 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73479975 73479975 + Silent SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr8:73479975A>T ENST00000523207.1 + 2 594 c.6A>T c.(4-6)gcA>gcT p.A2A NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 2 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) TCAAAATGGCAGAAAAGGCTC 0.507000 28 95 0 0 1 0 0 ZNF613 79898 broad.mit.edu 37 19 52448913 52448913 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:52448913G>C ENST00000293471.6 + 6 2456 c.1777G>C c.(1777-1779)Gag>Cag p.E593Q ZNF613_ENST00000391794.4_Missense_Mutation_p.E557Q|ZNF613_ENST00000601794.1_Intron NM_001031721.3 NP_001026891.2 Q6PF04 ZN613_HUMAN zinc finger protein 613 593 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 19 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) GTTCCAAGCAGAGAGCAAAGT 0.443000 5 41 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42862415 42862415 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:42862415C>T ENST00000334370.4 + 28 5565 c.4930C>T c.(4930-4932)Cct>Tct p.P1644S MEGF8_ENST00000251268.6_Missense_Mutation_p.P1711S NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1711 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) CCTGCACTGTCCTGACCGCAC 0.627000 4 7 0 0 1 0 0 GANC 2595 broad.mit.edu 37 15 42579976 42579976 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr15:42579976G>C ENST00000318010.8 + 4 529 c.289G>C c.(289-291)Gaa>Caa p.E97Q GANC_ENST00000566442.1_Missense_Mutation_p.E97Q NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 97 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) ACCCAGATTTGAAGTTCCGGA 0.393000 21 25 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616341 77616341 + Silent SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr8:77616341C>G ENST00000521891.2 + 2 466 c.18C>G c.(16-18)tcC>tcG p.S6S ZFHX4_ENST00000455469.2_Silent_p.S6S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.S6S|ZFHX4_ENST00000050961.6_Silent_p.S6S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 6 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCTGTGACTCCCCTCCTATCT 0.463000 HNSCC(33;0.089) 10 17 0 0 1 0 0 GPI 2821 broad.mit.edu 37 19 34859488 34859488 + Splice_Site SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:34859488G>T ENST00000415930.3 + 5 570 c.399_splice c.e5-1 p.G134_splice GPI_ENST00000586425.1_Splice_Site_p.G95_splice|GPI_ENST00000356487.5_Splice_Site_p.G95_splice NM_001184722.1 NP_001171651.1 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 95 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) TAATCCCCAGGGTCGAGCCGT 0.597000 21 25 7.87624e-14 1.03012e-13 1 1 0 HYDIN 54768 broad.mit.edu 37 16 70975619 70975619 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr16:70975619C>A ENST00000393567.2 - 43 6923 c.6773G>T c.(6772-6774)cGg>cTg p.R2258L NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2258 p.R2257L(1)|p.R2209L(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TATATGCTCCCGGCTGCCAAT 0.552000 31 52 2.75727e-19 3.78323e-19 1 1 0 ADAD2 161931 broad.mit.edu 37 16 84229196 84229196 + Silent SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr16:84229196C>T ENST00000268624.3 + 7 1284 c.1191C>T c.(1189-1191)tcC>tcT p.S397S RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000315906.5_Silent_p.S315S|RP11-486L19.2_ENST00000536986.1_RNA NM_139174.3 NP_631913.3 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 315 A to I editase. RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 AGGAGCAGTCCGTGCTGGCCC 0.677000 9 40 0 0 1 0 0 BCAN 63827 broad.mit.edu 37 1 156616845 156616845 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:156616845C>T ENST00000329117.4 + 3 680 c.344C>T c.(343-345)gCg>gTg p.A115V RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.A115V NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 115 Ig-like V-type. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding p.A115V(2) cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCGTACCCAGCGTCGCTCACC 0.682000 8 13 0 0 1 0 0 SYTL2 54843 broad.mit.edu 37 11 85409099 85409099 + Silent SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:85409099T>C ENST00000359152.5 - 10 4913 c.4914A>G c.(4912-4914)ggA>ggG p.G1638G SYTL2_ENST00000389958.3_Silent_p.G223G|SYTL2_ENST00000524452.1_Silent_p.G768G|SYTL2_ENST00000354566.3_Silent_p.G1130G|SYTL2_ENST00000316356.4_Silent_p.G793G|SYTL2_ENST00000533892.1_Silent_p.G194G|SYTL2_ENST00000389960.4_Silent_p.G768G|SYTL2_ENST00000528231.1_Silent_p.G792G|SYTL2_ENST00000527523.1_Silent_p.G760G|SYTL2_ENST00000529581.1_Silent_p.G234G|SYTL2_ENST00000525423.1_Silent_p.G1114G|SYTL2_ENST00000525702.1_Silent_p.G234G NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 792 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TGTGCACTTCTCCAGTTGTAG 0.398000 23 41 0 0 1 0 0 EDN1 1906 broad.mit.edu 37 6 12294602 12294602 + Silent SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:12294602C>A ENST00000379375.5 + 4 765 c.498C>A c.(496-498)atC>atA p.I166I NM_001168319.1|NM_001955.4 NP_001161791.1|NP_001946.3 P05305 EDN1_HUMAN endothelin 1 166 artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction cytoplasm|extracellular space cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 13 all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12) all_hematologic(90;0.117) GAAGAAAAATCAGAAGAAGTT 0.388000 16 39 1.99824e-07 2.32689e-07 1 1 0 FGF3 2248 broad.mit.edu 37 11 69625383 69625383 + Missense_Mutation SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:69625383A>T ENST00000334134.2 - 3 500 c.410T>A c.(409-411)gTg>gAg p.V137E NM_005247.2 NP_005238.1 P11487 FGF3_HUMAN fibroblast growth factor 3 137 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation extracellular region growth factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1) 13 LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278) CGTACTAGACACCGTCCGGTA 0.657000 23 31 0 0 1 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213349785 213349785 + Missense_Mutation SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:213349785A>T ENST00000366960.3 + 8 1144 c.994A>T c.(994-996)Agc>Tgc p.S332C RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Intron|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.S35C|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S320C NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 332 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) GAACCTAAGGAGCCCTGCCGA 0.473000 25 49 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125530379 125530379 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:125530379C>A ENST00000431078.1 + 17 2898 c.2534C>A c.(2533-2535)cCt>cAt p.P845H NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 845 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GTTTCAGCTCCTTCAGAGATC 0.473000 14 27 0.0167234 0.017412 1 1 0 PRSS50 29122 broad.mit.edu 37 3 46754406 46754406 + Silent SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr3:46754406C>T ENST00000460241.1 - 10 2576 c.906G>A c.(904-906)agG>agA p.R302R PRSS50_ENST00000315170.7_Silent_p.R302R Q9UI38 TSP50_HUMAN protease, serine, 50 302 Peptidase S1. proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 AGAACTTCTCCCTGTGGGTGT 0.557000 43 22 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 65 0 0 1 0 0 C1orf112 55732 broad.mit.edu 37 1 169772434 169772434 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:169772434C>G ENST00000286031.6 + 5 996 c.296C>G c.(295-297)aCa>aGa p.T99R C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.T99R|C1orf112_ENST00000413811.2_Missense_Mutation_p.T70R|C1orf112_ENST00000456684.1_Missense_Mutation_p.T157R NM_018186.2 NP_060656.2 Q9NSG2 CA112_HUMAN chromosome 1 open reading frame 112 99 breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1) 34 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ATTAAAAGCACATTTGTGCAT 0.353000 12 13 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 30143171 30143171 + Nonsense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:30143171C>A ENST00000389048.3 - 1 1261 c.355G>T c.(355-357)Gag>Tag p.E119* ALK_ENST00000431873.1_Nonsense_Mutation_p.E119* NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 119 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GTCCGGGCCTCTGCCGGGGCT 0.731000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 3 0 0.004672 0.00491254 1 1 0 NRD1 4898 broad.mit.edu 37 1 52305985 52305985 + Silent SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:52305985T>C ENST00000354831.7 - 2 732 c.543A>G c.(541-543)gaA>gaG p.E181E NRD1_ENST00000352171.7_Silent_p.E181E|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Silent_p.E49E|NRD1_ENST00000539524.1_Silent_p.E49E NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 178 Asp/Glu-rich (highly acidic). cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 catcatcatgttcatcatcaa 0.373000 5 8 0 0 1 0 0 OR13J1 392309 broad.mit.edu 37 9 35869556 35869556 + Silent SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr9:35869556G>T ENST00000377981.2 - 1 905 c.843C>A c.(841-843)gtC>gtA p.V281V NM_001004487.1 NP_001004487.1 Q8NGT2 O13J1_HUMAN olfactory receptor, family 13, subfamily J, member 1 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1) 6 all_epithelial(49;0.169) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194) GCATGGTCGTGACCATGGCAT 0.557000 9 12 5.4927e-09 6.62869e-09 1 1 0 RTL1 388015 broad.mit.edu 37 14 101347319 101347319 + Silent SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr14:101347319G>T ENST00000534062.1 - 1 3865 c.3807C>A c.(3805-3807)ccC>ccA p.P1269P NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 1269 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 CTGTGTGGCTGGGTGGGGCCT 0.637000 4 1 0.014758 0.0153959 1 1 0 HEXIM1 10614 broad.mit.edu 37 17 43227434 43227434 + Nonsense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:43227434G>T ENST00000332499.2 + 1 2751 c.877G>T c.(877-879)Gaa>Taa p.E293* NM_006460.2 NP_006451.1 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 293 Mediates interaction with CCNT1. negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GGAGTACCTGGAACTGGAGAA 0.627000 31 50 3.57733e-08 4.24009e-08 1 1 0 OR2T10 127069 broad.mit.edu 37 1 248756314 248756314 + Silent SNP A A G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:248756314A>G ENST00000330500.2 - 1 786 c.756T>C c.(754-756)taT>taC p.Y252Y NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TAGCAGCTCCATAGAAGAGGC 0.453000 13 10 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21231607 21231607 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:21231607G>T ENST00000233242.1 - 26 8260 c.8133C>A c.(8131-8133)ttC>ttA p.F2711L NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2711 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTGGTAAACGGAAGTCTGGCA 0.463000 43 99 5.20837e-25 7.4146e-25 1 1 0 CFP 5199 broad.mit.edu 37 X 47486251 47486251 + Silent SNP A A G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chrX:47486251A>G ENST00000247153.3 - 7 1102 c.861T>C c.(859-861)ccT>ccC p.P287P CFP_ENST00000396992.3_Silent_p.P287P|CFP_ENST00000377005.2_Silent_p.P287P NM_002621.2 NP_002612.1 P27918 PROP_HUMAN complement factor properdin 287 TSP type-1 4. complement activation, alternative pathway|defense response to bacterium extracellular space breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 18 GCTGGGGCACAGGGTGATTGC 0.667000 9 4 0 0 1 0 0 MAP10 54627 broad.mit.edu 37 1 232940896 232940896 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:232940896G>A ENST00000418460.1 + 1 254 c.127G>A c.(127-129)Gat>Aat p.D43N NM_019090.2 NP_061963.2 microtubule-associated protein 10 GATCTGCAGTGATAAAACCAT 0.388000 5 189 0 0 1 0 0 SLC35F1 222553 broad.mit.edu 37 6 118475755 118475755 + Silent SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:118475755C>G ENST00000360388.4 + 2 522 c.321C>G c.(319-321)gtC>gtG p.V107V NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 107 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) TCTTCTTGGTCTATACCACCA 0.408000 39 71 0 0 1 0 0 TRMT61B 55006 broad.mit.edu 37 2 29092739 29092739 + Silent SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:29092739T>C ENST00000306108.5 - 1 428 c.405A>G c.(403-405)gaA>gaG p.E135E NM_017910.3 NP_060380.3 Q9BVS5 TR61B_HUMAN tRNA methyltransferase 61 homolog B (S. cerevisiae) 135 tRNA (adenine-N1-)-methyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(8) 13 CGTGACGCTCTTCGACCTCGG 0.577000 17 19 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118623726 118623726 + Missense_Mutation SNP A A G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:118623726A>G ENST00000336338.5 - 15 2272 c.2207T>C c.(2206-2208)cTg>cCg p.L736P NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 736 L -> P (in Ref. 3; BAC03753). cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TAACTTACCCAGAGACTCATG 0.383000 12 51 0 0 1 0 0 ANKRD16 54522 broad.mit.edu 37 10 5931249 5931249 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr10:5931249C>A ENST00000380094.5 - 1 612 c.69G>T c.(67-69)aaG>aaT p.K23N ANKRD16_ENST00000191063.8_Missense_Mutation_p.K23N|ANKRD16_ENST00000380092.4_Missense_Mutation_p.K23N NM_019046.2 NP_061919.1 Q6P6B7 ANR16_HUMAN ankyrin repeat domain 16 23 breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2) 12 GCAGCTCCTCCTTCAGGGCGC 0.801000 2 0 0.0784 0.0800585 1 1 0 SMC3 9126 broad.mit.edu 37 10 112361903 112361903 + Silent SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr10:112361903G>T ENST00000361804.4 + 25 3198 c.3072G>T c.(3070-3072)cgG>cgT p.R1024R NM_005445.3 NP_005436.1 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 1024 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) TTGAACTTCGGAAATATGAAG 0.348000 48 16 2.55665e-31 3.7194e-31 1 1 0 OR4M2 390538 broad.mit.edu 37 15 22369286 22369286 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr15:22369286G>T ENST00000332663.2 + 1 809 c.711G>T c.(709-711)agG>agT p.R237S RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ATACCAACAGGGCCATGTCCA 0.458000 35 133 2.75727e-19 3.78323e-19 1 1 0 OR4K13 390433 broad.mit.edu 37 14 20502211 20502211 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr14:20502211G>A ENST00000315693.2 - 1 708 c.707C>T c.(706-708)gCt>gTt p.A236V NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AGTGGAGAAAGCCTTAGAGGA 0.483000 22 35 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48353837 48353837 + Missense_Mutation SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:48353837A>T ENST00000435803.1 + 26 9714 c.9690A>T c.(9688-9690)caA>caT p.Q3230H NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3230 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AGGTTTCACAAAATGTCCAGG 0.368000 6 16 0 0 1 0 0 ZNF836 162962 broad.mit.edu 37 19 52658865 52658865 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:52658865C>G ENST00000322146.8 - 5 2592 c.2071G>C c.(2071-2073)Gag>Cag p.E691Q ZNF836_ENST00000597252.1_Missense_Mutation_p.E691Q|CTC-471J1.8_ENST00000594362.1_RNA NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 691 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TAAGGTTTCTCTCCAGTATGA 0.383000 27 34 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151945083 151945083 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:151945083C>T ENST00000355193.2 - 14 2654 c.2436G>A c.(2434-2436)atG>atA p.M812I KMT2C_ENST00000262189.6_Missense_Mutation_p.M812I lysine (K)-specific methyltransferase 2C AAGTTGTTGGCATGATGTTTC 0.448000 13 280 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48264870 48264870 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:48264870C>T ENST00000225964.5 - 46 3516 c.3398G>A c.(3397-3399)gGa>gAa p.G1133E NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 1133 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) ACCAGAGGCTCCAGAGGGACC 0.602000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 13 13 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51889466 51889466 + Silent SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:51889466G>A ENST00000371117.3 - 32 5417 c.5142C>T c.(5140-5142)taC>taT p.Y1714Y PKHD1_ENST00000340994.4_Silent_p.Y1714Y NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1714 IPT/TIG 12; atypical. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CTCTGACGTGGTACTCCCCGG 0.517000 24 27 0 0 1 0 0 LCA5 167691 broad.mit.edu 37 6 80197043 80197043 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:80197043C>T ENST00000392959.1 - 9 2383 c.1772G>A c.(1771-1773)gGt>gAt p.G591D LCA5_ENST00000369846.4_Missense_Mutation_p.G591D NM_181714.3 NP_859065.2 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 591 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) TAAATCTACACCATCTTTACT 0.353000 23 38 0 0 1 0 0 ELL2 22936 broad.mit.edu 37 5 95226885 95226885 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr5:95226885C>A ENST00000237853.4 - 10 2032 c.1683G>T c.(1681-1683)agG>agT p.R561S ELL2_ENST00000431061.2_Missense_Mutation_p.R311S NM_012081.5 NP_036213.2 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 561 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex p.R561S(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) CAGTCTCCATCCTGGCATGCA 0.388000 41 21 1.8453e-21 2.59908e-21 1 1 0 SBF1 6305 broad.mit.edu 37 22 50902991 50902991 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr22:50902991C>A ENST00000380817.2 - 14 1791 c.1608G>T c.(1606-1608)agG>agT p.R536S SBF1_ENST00000390679.3_Missense_Mutation_p.R536S|SBF1_ENST00000348911.6_Missense_Mutation_p.R537S NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 536 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GCACGGTGGTCCTCCTCTCGG 0.692000 26 47 5.77227e-19 7.87937e-19 1 1 0 NFATC2 4773 broad.mit.edu 37 20 50133389 50133389 + Silent SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr20:50133389G>A ENST00000371564.3 - 3 1485 c.1266C>T c.(1264-1266)gcC>gcT p.A422A NFATC2_ENST00000414705.1_Silent_p.A402A|NFATC2_ENST00000396009.3_Silent_p.A422A NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 422 RHD. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) TCTCATAGTGGGCCCGGTGAT 0.587000 12 29 0 0 1 0 0 GABRG3 2567 broad.mit.edu 37 15 27772733 27772733 + Nonsense_Mutation SNP T T A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr15:27772733T>A ENST00000333743.6 + 8 1274 c.1020T>A c.(1018-1020)taT>taA p.Y340* RP11-100M12.3_ENST00000556642.1_RNA NM_033223.4 NP_150092.2 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 340 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) TCAACTACTATTCCAGCTGTA 0.537000 8 2 0 0 1 0 0 DTNB 1838 broad.mit.edu 37 2 25610229 25610229 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:25610229C>T ENST00000406818.3 - 18 2003 c.1754G>A c.(1753-1755)cGc>cAc p.R585H DTNB_ENST00000545439.1_Missense_Mutation_p.R374H|DTNB_ENST00000407186.1_Missense_Mutation_p.R548H|DTNB_ENST00000496972.2_Missense_Mutation_p.R521H|DTNB_ENST00000404103.3_Intron|DTNB_ENST00000288642.8_Intron|DTNB_ENST00000407661.3_Missense_Mutation_p.R585H|DTNB_ENST00000407038.3_Intron|DTNB_ENST00000405222.1_Intron NM_001256303.1|NM_021907.4 NP_001243232.1|NP_068707.1 O60941 DTNB_HUMAN dystrobrevin, beta 585 cytoplasm calcium ion binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGGTCATTGCGGAGGTTTCT 0.587000 11 20 0 0 1 0 0 FHL5 9457 broad.mit.edu 37 6 97051502 97051502 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:97051502C>G ENST00000326771.2 + 3 393 c.13C>G c.(13-15)Cac>Gac p.H5D FHL5_ENST00000541107.1_Missense_Mutation_p.H5D NM_020482.4 NP_065228.4 Q5TD97 FHL5_HUMAN four and a half LIM domains 5 5 nucleus zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) GACAACTGCTCACTTTTACTG 0.313000 17 18 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10304678 10304678 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:10304678G>C ENST00000403437.2 - 24 3116 c.3022C>G c.(3022-3024)Cag>Gag p.Q1008E CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1008 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TCCAGGGTCTGCTGGTGGGTC 0.468000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 62 59 0 0 1 0 0 SLC45A2 51151 broad.mit.edu 37 5 33982365 33982365 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr5:33982365G>T ENST00000382102.3 - 2 595 c.538C>A c.(538-540)Ctc>Atc p.L180I SLC45A2_ENST00000345083.5_Missense_Mutation_p.L180I|SLC45A2_ENST00000342059.3_Intron|SLC45A2_ENST00000296589.4_Missense_Mutation_p.L180I|SLC45A2_ENST00000509381.1_Missense_Mutation_p.L180I NM_001012509.2 NP_001012527.1 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 180 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 TGGTAGTGGAGGCCCTTCTCC 0.493000 29 23 4.06085e-26 5.79654e-26 1 1 0 TMEM200A 114801 broad.mit.edu 37 6 130762719 130762719 + Silent SNP C C G rs73771841 byFrequency TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:130762719C>G ENST00000392429.1 + 2 3530 c.1152C>G c.(1150-1152)tcC>tcG p.S384S TMEM200A_ENST00000545622.1_Silent_p.S384S|TMEM200A_ENST00000296978.3_Silent_p.S384S NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 384 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) AGTTTGGGTCCAATACATCCT 0.527000 19 29 0 0 1 0 0 IFI30 10437 broad.mit.edu 37 19 18286135 18286135 + Silent SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:18286135T>C ENST00000407280.2 + 3 398 c.330T>C c.(328-330)agT>agC p.S110S PIK3R2_ENST00000593731.1_3'UTR NM_006332.3 NP_006323.2 P13284 GILT_HUMAN interferon, gamma-inducible protein 30 110 antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway cell junction|extracellular region|lysosome oxidoreductase activity, acting on a sulfur group of donors endometrium(1)|kidney(2)|large_intestine(1)|stomach(1) 5 AAAATGTCAGTGGCAGGTGGG 0.622000 4 6 0 0 1 0 0 CFHR1 3078 broad.mit.edu 37 1 196796048 196796048 + Missense_Mutation SNP A A G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:196796048A>G ENST00000320493.5 + 3 431 c.343A>G c.(343-345)Aac>Gac p.N115D CFHR1_ENST00000367424.3_Missense_Mutation_p.N115D|CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000498248.1_3'UTR NM_002113.2 NP_002104.2 Q03591 FHR1_HUMAN complement factor H-related 1 115 Sushi 2. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 AATTATTTGCAACACAGGATA 0.428000 24 48 0 0 1 0 0 GIN1 54826 broad.mit.edu 37 5 102442560 102442560 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr5:102442560C>A ENST00000399004.2 - 3 287 c.193G>T c.(193-195)Gtt>Ttt p.V65F GIN1_ENST00000508629.1_Missense_Mutation_p.V65F NM_017676.2 NP_060146.2 Q9NXP7 GIN1_HUMAN gypsy retrotransposon integrase 1 65 DNA integration DNA binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) TCTTCTGAAACAATTACCAAA 0.338000 3 3 6.4e-05 7.05218e-05 1 1 0 LCE2C 353140 broad.mit.edu 37 1 152648469 152648469 + Splice_Site SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:152648469A>T ENST00000368783.1 + 2 34 c.e2-1 LCE2B_ENST00000417924.2_Intron NM_178429.2 NP_848516.1 Q5TA81 LCE2C_HUMAN late cornified envelope 2C keratinization endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 13 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ATTATCTTTCAGGTTGACTAA 0.403000 20 40 0 0 1 0 0 TUBG1 7283 broad.mit.edu 37 17 40767015 40767015 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:40767015G>A ENST00000251413.3 + 11 1374 c.1312G>A c.(1312-1314)Gcc>Acc p.A438T NM_001070.4 NP_001061.2 P23258 TBG1_HUMAN tubulin, gamma 1 438 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) GTACCATGCGGCCACACGGCC 0.582000 22 56 0 0 1 0 0 SLC26A5 375611 broad.mit.edu 37 7 103048393 103048393 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:103048393C>A ENST00000306312.3 - 8 1054 c.793G>T c.(793-795)Ggg>Tgg p.G265W SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393735.2_Missense_Mutation_p.G265W|SLC26A5_ENST00000339444.6_Missense_Mutation_p.G265W|SLC26A5_ENST00000356767.4_Missense_Mutation_p.G265W|SLC26A5_ENST00000393729.1_Missense_Mutation_p.G228W|SLC26A5_ENST00000393727.1_Missense_Mutation_p.G265W|SLC26A5_ENST00000393723.1_Missense_Mutation_p.G265W|SLC26A5_ENST00000393730.1_Missense_Mutation_p.G265W|SLC26A5_ENST00000432958.2_Missense_Mutation_p.G265W NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 265 regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 ACCATCAGCCCGACGCCTAGG 0.443000 18 41 6.94344e-10 8.55445e-10 1 1 0 CAPRIN2 65981 broad.mit.edu 37 12 30881705 30881705 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr12:30881705C>G ENST00000251071.5 - 8 2409 c.1659G>C c.(1657-1659)gaG>gaC p.E553D CAPRIN2_ENST00000395805.2_Missense_Mutation_p.E553D|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.E553D|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.E220D|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.E553D|CAPRIN2_ENST00000538387.1_5'UTR NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 553 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) GTTTTTGACTCTCAACATTGT 0.468000 6 110 0 0 1 0 0 EPC2 26122 broad.mit.edu 37 2 149528848 149528848 + Missense_Mutation SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:149528848A>T ENST00000258484.6 + 10 1646 c.1612A>T c.(1612-1614)Agt>Tgt p.S538C NM_015630.3 NP_056445.3 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 (Drosophila) 538 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0516) TTTACAGGACAGTGATAGTGA 0.378000 10 87 0 0 1 0 0 HNF1B 6928 broad.mit.edu 37 17 36091623 36091623 + Missense_Mutation SNP G G T rs150268130 TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:36091623G>T ENST00000225893.4 - 4 1369 c.1008C>A c.(1006-1008)caC>caA p.H336Q HNF1B_ENST00000561193.1_Missense_Mutation_p.H310Q|HNF1B_ENST00000560016.1_Missense_Mutation_p.H336Q|HNF1B_ENST00000427275.2_Missense_Mutation_p.H310Q NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 336 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) TGGGCTGGTGGTGGGGGGAGC 0.602000 7 14 8.12818e-05 8.93595e-05 1 1 0 LRIF1 55791 broad.mit.edu 37 1 111492686 111492686 + Silent SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:111492686T>C ENST00000369763.4 - 3 2046 c.1656A>G c.(1654-1656)aaA>aaG p.K552K LRIF1_ENST00000494675.1_Silent_p.K16K|LRIF1_ENST00000485275.2_Silent_p.K16K|RP11-96K19.2_ENST00000440689.1_RNA NM_018372.3 NP_060842.3 Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 552 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 CTTGAGAATCTTTCTTGTCAT 0.358000 11 18 0 0 1 0 0 SAR1A 56681 broad.mit.edu 37 10 71912347 71912347 + Splice_Site SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr10:71912347C>T ENST00000373238.1 - 7 839 c.480_splice c.e7-1 p.G161_splice SAR1A_ENST00000431664.2_Splice_Site_p.G161_splice|SAR1A_ENST00000373242.1_Splice_Site_p.G161_splice|SAR1A_ENST00000458634.2_Splice_Site_p.G118_splice|SAR1A_ENST00000373241.4_Splice_Site_p.G161_splice Q9NR31 SAR1A_HUMAN SAR1 homolog A (S. cerevisiae) 161 ER to Golgi vesicle-mediated transport|intracellular protein transport Golgi apparatus GTP binding|GTPase activity NS(1)|endometrium(1)|large_intestine(1)|lung(3) 6 GGTCACATTCCCCTAAAGGAG 0.483000 14 6 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45614752 45614752 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:45614752C>A ENST00000297323.7 + 1 632 c.610C>A c.(610-612)Ccc>Acc p.P204T ADCY1_ENST00000432715.1_5'UTR NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 204 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) CACCTTGGTCCCCGCCAAGCG 0.652000 13 24 2.23348e-06 2.53415e-06 1 1 0 AIMP2 7965 broad.mit.edu 37 7 6057622 6057622 + Missense_Mutation SNP A A G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:6057622A>G ENST00000223029.3 + 3 639 c.520A>G c.(520-522)Aaa>Gaa p.K174E AIMP2_ENST00000395236.2_Missense_Mutation_p.K105E|AIMP2_ENST00000400479.2_Missense_Mutation_p.K96E NM_006303.3 NP_006294.2 Q13155 AIMP2_HUMAN aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 174 Interaction with TP53. apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation cytosol|nucleus protein binding large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 AGAACAGAATAAAAAACAGCC 0.502000 13 20 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71509351 71509351 + Silent SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr4:71509351T>C ENST00000396073.3 + 9 2489 c.2208T>C c.(2206-2208)acT>acC p.T736T ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 736 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) CAGCTTCTACTATGCCACCAC 0.428000 16 52 0 0 1 0 0 GABRG3 2567 broad.mit.edu 37 15 27772638 27772638 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr15:27772638C>A ENST00000333743.6 + 8 1179 c.925C>A c.(925-927)Cgc>Agc p.R309S RP11-100M12.3_ENST00000556642.1_RNA NM_033223.4 NP_150092.2 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 309 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) GTCCTTGCCACGCGTGTCCTA 0.562000 14 18 3.27435e-08 3.89839e-08 1 1 0 OR13C3 138803 broad.mit.edu 37 9 107299059 107299059 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr9:107299059C>A ENST00000374781.2 - 1 78 c.36G>T c.(34-36)ttG>ttT p.L12F NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 TATTTACTGCCAAGAAACAAA 0.353000 16 22 3.52763e-06 3.96859e-06 1 1 0 PTPRT 11122 broad.mit.edu 37 20 41306786 41306786 + Silent SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr20:41306786G>T ENST00000373198.3 - 7 1108 c.873C>A c.(871-873)ccC>ccA p.P291P PTPRT_ENST00000373193.3_Silent_p.P291P|PTPRT_ENST00000373201.1_Silent_p.P291P|PTPRT_ENST00000373187.1_Silent_p.P291P|PTPRT_ENST00000356100.2_Silent_p.P291P|PTPRT_ENST00000373190.1_Silent_p.P291P|PTPRT_ENST00000373184.1_Silent_p.P291P NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 291 Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGGGAGCAATGGGCGTGGGAG 0.517000 10 14 0.0692343 0.0708351 1 1 0 CACNA1B 774 broad.mit.edu 37 9 141016147 141016147 + Missense_Mutation SNP T T A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr9:141016147T>A ENST00000277549.5 + 47 6867 c.4298T>A c.(4297-4299)cTg>cAg p.L1433Q CACNA1B_ENST00000371363.1_Missense_Mutation_p.L2237Q|CACNA1B_ENST00000277551.2_Missense_Mutation_p.C2177S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.L2240Q|CACNA1B_ENST00000371357.1_Missense_Mutation_p.L2238Q|CACNA1B_ENST00000371372.1_Missense_Mutation_p.L2239Q Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 2239 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) AACGCCCTGCTGCAGAGAGAC 0.672000 23 25 0 0 1 0 0 PRAME 23532 broad.mit.edu 37 22 22892241 22892241 + Missense_Mutation SNP T T G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr22:22892241T>G ENST00000543184.1 - 4 1722 c.860A>C c.(859-861)cAg>cCg p.Q287P PRAME_ENST00000398743.2_Missense_Mutation_p.Q287P|PRAME_ENST00000398741.1_Missense_Mutation_p.Q287P|PRAME_ENST00000405655.3_Missense_Mutation_p.Q287P|PRAME_ENST00000402697.1_Missense_Mutation_p.Q287P|PRAME_ENST00000539862.1_Missense_Mutation_p.Q271P|PRAME_ENST00000424204.2_Missense_Mutation_p.Q271P NM_206953.1 NP_996836.1 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 287 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) AGAGGTGAACTGGGCGATATA 0.522000 19 44 0 0 1 0 0 PRKCI 5584 broad.mit.edu 37 3 169977769 169977769 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr3:169977769C>T ENST00000295797.4 + 3 541 c.236C>T c.(235-237)aCa>aTa p.T79I NM_002740.5 NP_002731.4 P41743 KPCI_HUMAN protein kinase C, iota 79 Interaction with PARD6A.|OPR.|Regulatory domain. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) GACCCGTGTACAGTATCATCT 0.323000 17 41 0 0 1 0 0 MEMO1 51072 broad.mit.edu 37 2 32093471 32093471 + Missense_Mutation SNP T T G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:32093471T>G ENST00000295065.4 - 9 1162 c.853A>C c.(853-855)Agt>Cgt p.S285R MEMO1_ENST00000426310.2_Missense_Mutation_p.S262R|MEMO1_ENST00000490459.1_5'UTR|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000404530.1_Missense_Mutation_p.S285R|MEMO1_ENST00000379383.3_Missense_Mutation_p.S288R NM_015955.2 NP_057039.1 Q9Y316 MEMO1_HUMAN mediator of cell motility 1 285 regulation of microtubule-based process cytosol|nucleus NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 17 Acute lymphoblastic leukemia(172;0.155) CTCACTGAACTGTCTTGCCAG 0.478000 5 7 0 0 1 0 0 DCDC2B 149069 broad.mit.edu 37 1 32678210 32678210 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:32678210C>A ENST00000409358.1 + 5 647 c.647C>A c.(646-648)cCc>cAc p.P216H NM_001099434.1 NP_001092904.1 A2VCK2 DCD2B_HUMAN doublecortin domain containing 2B 216 intracellular signal transduction breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CTGCTGGTGCCCAGCCCCTCC 0.602000 20 49 3.99206e-14 5.23403e-14 1 1 0 TIAM1 7074 broad.mit.edu 37 21 32508301 32508301 + Missense_Mutation SNP G G A rs148086955 TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr21:32508301G>A ENST00000286827.3 - 24 4304 c.3833C>T c.(3832-3834)cCg>cTg p.P1278L TIAM1_ENST00000541036.1_Missense_Mutation_p.P1218L NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1278 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CGAGGCCGGCGGGTTCAGCCA 0.507000 26 8 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 56138609 56138609 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr10:56138609C>A ENST00000373965.2 - 4 645 c.251G>T c.(250-252)tGg>tTg p.W84L PCDH15_ENST00000414778.1_Missense_Mutation_p.W89L|PCDH15_ENST00000395440.1_Missense_Mutation_p.W84L|PCDH15_ENST00000320301.6_Missense_Mutation_p.W84L|PCDH15_ENST00000373957.3_Missense_Mutation_p.W62L|PCDH15_ENST00000361849.3_Missense_Mutation_p.W84L|PCDH15_ENST00000437009.1_Missense_Mutation_p.W84L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.W84L|PCDH15_ENST00000395438.1_Missense_Mutation_p.W84L|PCDH15_ENST00000395442.1_Missense_Mutation_p.W84L|PCDH15_ENST00000373955.1_Missense_Mutation_p.W84L|PCDH15_ENST00000395446.1_Missense_Mutation_p.W84L|PCDH15_ENST00000395433.1_Missense_Mutation_p.W62L|PCDH15_ENST00000395432.2_Missense_Mutation_p.W84L|PCDH15_ENST00000395430.1_Missense_Mutation_p.W84L NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 84 Cadherin 1. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CATCAACACCCAGTAATCCAC 0.423000 HNSCC(58;0.16) 47 50 9.82405e-12 1.24798e-11 1 1 0 SYCP2 10388 broad.mit.edu 37 20 58449032 58449032 + Nonsense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr20:58449032G>T ENST00000357552.3 - 35 3659 c.3434C>A c.(3433-3435)tCa>tAa p.S1145* SYCP2_ENST00000371001.2_Nonsense_Mutation_p.S1145* Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1145 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding 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) GGATTCAAGTGATGAAGTTTT 0.328000 9 20 0.000442599 0.000479633 1 1 0 CEP250 11190 broad.mit.edu 37 20 34089671 34089671 + Splice_Site SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr20:34089671G>C ENST00000397527.1 + 29 4618 c.e29-1 CEP250_ENST00000342580.4_Splice_Site NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) tcttctcAAAGAGAAATCCAA 0.478000 7 7 0 0 1 0 0 HIST1H2AM 8336 broad.mit.edu 37 6 27860843 27860843 + Nonsense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:27860843C>A ENST00000359611.2 - 1 120 c.85G>T c.(85-87)Gga>Tga p.G29* HIST1H3J_ENST00000479986.1_5'UTR NM_003514.2 NP_003505.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2am 29 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2) 14 TGCACTCGTCCTACAGGAAAT 0.647000 21 27 8.34094e-07 9.54534e-07 1 1 0 CHDC2 286464 broad.mit.edu 37 X 36091373 36091373 + Missense_Mutation SNP A A G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chrX:36091373A>G ENST00000378660.1 + 4 496 c.308A>G c.(307-309)aAg>aGg p.K103R CHDC2_ENST00000313548.4_Missense_Mutation_p.K103R calponin homology domain containing 2 GAAGGAACAAAGGCACACTAC 0.413000 19 17 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108380698 108380698 + Missense_Mutation SNP T T A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:108380698T>A ENST00000265843.4 - 6 5646 c.5536A>T c.(5536-5538)Agt>Tgt p.S1846C EXPH5_ENST00000443411.1_Missense_Mutation_p.S1658C|EXPH5_ENST00000428840.1_Missense_Mutation_p.S1770C|EXPH5_ENST00000525344.1_Missense_Mutation_p.S1839C NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1846 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) AATCTTCGACTGTACCCATTG 0.463000 14 29 0 0 1 0 0 MAPK1IP1L 93487 broad.mit.edu 37 14 55529486 55529486 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr14:55529486G>T ENST00000395468.3 + 3 346 c.169G>T c.(169-171)Gca>Tca p.A57S MAPK1IP1L_ENST00000554364.1_3'UTR NM_144578.3 NP_653179.1 Q8NDC0 MISSL_HUMAN mitogen-activated protein kinase 1 interacting protein 1-like 57 Pro-rich. endometrium(2)|large_intestine(1)|lung(3) 6 CCCACCAAGTGCAACACCCTC 0.582000 19 47 1.96292e-10 2.4525e-10 1 1 0 NOTCH3 4854 broad.mit.edu 37 19 15295220 15295220 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:15295220C>A ENST00000263388.2 - 16 2527 c.2452G>T c.(2452-2454)Gca>Tca p.A818S NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 818 EGF-like 21; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.A818S(2) breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CCACAGGGTGCGGGGCCAGCA 0.612000 16 40 3.99206e-14 5.23403e-14 1 1 0 SCN10A 6336 broad.mit.edu 37 3 38805036 38805036 + Silent SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr3:38805036G>A ENST00000449082.2 - 5 650 c.651C>T c.(649-651)ttC>ttT p.F217F NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 217 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TAAGAACTCTGAATGTCCGCA 0.458000 30 19 0 0 1 0 0 PTN 5764 broad.mit.edu 37 7 136938242 136938242 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:136938242C>A ENST00000348225.2 - 3 685 c.258G>T c.(256-258)aaG>aaT p.K86N PTN_ENST00000393083.2_Missense_Mutation_p.K86N NM_002825.5 NP_002816.1 P21246 PTN_HUMAN pleiotrophin 86 nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway endoplasmic reticulum|extracellular space growth factor activity|heparin binding|protein phosphatase inhibitor activity p.K86N(2) NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 TGCAGGGGATCTTACATCTCT 0.502000 23 12 9.39395e-14 1.22259e-13 1 1 0 RAB11FIP4 84440 broad.mit.edu 37 17 29844670 29844670 + Splice_Site SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:29844670G>T ENST00000325874.8 + 4 567 c.336_splice c.e4-1 p.G113_splice RAB11FIP4_ENST00000394744.2_Splice_Site_p.G11_splice NM_032932.3 NP_116321.2 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 113 Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) CTTTCCCAGGGCAGCGAGGTC 0.597000 3 9 0.00909568 0.00954507 1 1 0 CCDC50 152137 broad.mit.edu 37 3 191074882 191074882 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr3:191074882C>G ENST00000392455.3 + 2 653 c.55C>G c.(55-57)Cga>Gga p.R19G CCDC50_ENST00000392456.3_Missense_Mutation_p.R19G NM_174908.3 NP_777568.1 Q8IVM0 CCD50_HUMAN coiled-coil domain containing 50 19 cytoplasm protein binding p.R19G(2) endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1) 23 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) TCTAGTATGCCGAGATTTTGC 0.378000 14 16 0 0 1 0 0 TCL1B 9623 broad.mit.edu 37 14 96152827 96152827 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr14:96152827G>T ENST00000340722.7 + 1 74 c.23G>T c.(22-24)cGt>cTt p.R8L RP11-1070N10.6_ENST00000461160.1_RNA NM_004918.3 NP_004909.1 O95988 TCL1B_HUMAN T-cell leukemia/lymphoma 1B 8 cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) GCTTCTGTGCGTCTAGGGGTG 0.602000 17 106 5.35267e-07 6.17884e-07 1 1 0 NPAP1 23742 broad.mit.edu 37 15 24924386 24924386 + Silent SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr15:24924386G>C ENST00000329468.2 + 1 3846 c.3372G>C c.(3370-3372)ctG>ctC p.L1124L NM_018958.2 NP_061831.2 nuclear pore associated protein 1 AGTGCATCCTGCAGCACACAT 0.473000 13 78 0 0 1 0 0 EFCAB3 146779 broad.mit.edu 37 17 60493471 60493471 + Silent SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr17:60493471T>C ENST00000450662.2 + 12 1325 c.1254T>C c.(1252-1254)tcT>tcC p.S418S EFCAB3_ENST00000305286.3_Silent_p.S366S NM_001144933.1 NP_001138405.1 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 366 calcium ion binding cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) GGATGGACTCTAGAAATGAGT 0.403000 28 39 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47548772 47548772 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr4:47548772G>C ENST00000273859.3 + 10 1797 c.1528G>C c.(1528-1530)Gga>Cga p.G510R ATP10D_ENST00000504445.1_Missense_Mutation_p.G495R NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 510 ATP biosynthetic process|cation transport 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(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 TGGGCCTTTGGGAAATAAGCC 0.483000 24 35 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237659936 237659936 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:237659936G>T ENST00000366574.2 + 20 2404 c.2087G>T c.(2086-2088)gGc>gTc p.G696V RYR2_ENST00000360064.6_Missense_Mutation_p.G694V|RYR2_ENST00000542537.1_Missense_Mutation_p.G680V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 696 B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTGCGAGTGGGCTGGGCTTCC 0.507000 30 26 7.01153e-11 8.84353e-11 1 1 0 ZNF846 162993 broad.mit.edu 37 19 9868423 9868423 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:9868423G>A ENST00000397902.2 - 6 1743 c.1330C>T c.(1330-1332)Cac>Tac p.H444Y ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron NM_001077624.1 NP_001071092.1 Q147U1 ZN846_HUMAN zinc finger protein 846 444 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H444D(1) NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 TCTCCAGTGTGAGTTCTTAAA 0.438000 19 24 0 0 1 0 0 ADAM20 8748 broad.mit.edu 37 14 70989856 70989856 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr14:70989856C>A ENST00000256389.3 - 2 2013 c.1769G>T c.(1768-1770)cGt>cTt p.R590L RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 540 Cys-rich. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) GTGACCGAAACGGTTTCCTTG 0.423000 42 40 2.6416e-12 3.39634e-12 1 1 0 TPR 7175 broad.mit.edu 37 1 186302298 186302298 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:186302298G>A ENST00000367478.3 - 37 5707 c.5411C>T c.(5410-5412)tCa>tTa p.S1804L NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 1804 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) CTCAACTGGTGAACTCTGAAC 0.408000 T NTRK1 papillary thyroid 10 27 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47944861 47944861 + Silent SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:47944861A>T ENST00000289672.2 - 11 1634 c.1584T>A c.(1582-1584)gcT>gcA p.A528A NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 528 PKD 1. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CCTTGGTAACAGCTGTAAATG 0.418000 32 50 0 0 1 0 0 DPY19L1 23333 broad.mit.edu 37 7 35009099 35009099 + Silent SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:35009099G>T ENST00000310974.4 - 9 885 c.741C>A c.(739-741)tcC>tcA p.S247S DPY19L1_ENST00000462134.2_5'UTR NM_015283.1 NP_056098.1 Q2PZI1 D19L1_HUMAN dpy-19-like 1 (C. elegans) 247 integral to membrane endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 31 AAAATACATTGGAAATGCAGA 0.348000 18 21 4.96729e-08 5.8614e-08 1 1 0 SLIT2 9353 broad.mit.edu 37 4 20482397 20482397 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr4:20482397G>T ENST00000504154.1 + 6 778 c.526G>T c.(526-528)Gac>Tac p.D176Y SLIT2_ENST00000503823.1_Missense_Mutation_p.D176Y|SLIT2_ENST00000273739.5_Missense_Mutation_p.D176Y|SLIT2_ENST00000503837.1_Missense_Mutation_p.D176Y NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 176 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GGCTCTCCGGGACCTGGAAGT 0.438000 21 53 4.26978e-12 5.46326e-12 1 1 0 KCNK6 9424 broad.mit.edu 37 19 38810813 38810813 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:38810813G>T ENST00000263372.3 + 1 330 c.223G>T c.(223-225)Gtc>Ttc p.V75F NM_004823.1 NP_004814.1 Q9Y257 KCNK6_HUMAN potassium channel, subfamily K, member 6 75 voltage-gated potassium channel complex inward rectifier potassium channel activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3) 17 all_cancers(60;5.83e-07) Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613) Ibutilide(DB00308)|Quinidine(DB00908) GCTGGGGCGGGTCGTGCTTGC 0.716000 9 18 1.12685e-05 1.25705e-05 1 1 0 PRB1 5542 broad.mit.edu 37 12 11506728 11506728 + Missense_Mutation SNP T T A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr12:11506728T>A ENST00000500254.2 - 3 346 c.309A>T c.(307-309)caA>caT p.Q103H PRB1_ENST00000545626.1_Missense_Mutation_p.Q103H|PRB1_ENST00000546254.1_Missense_Mutation_p.Q103H NM_005039.3|NM_199353.2 NP_005030.2|NP_955385.1 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 286 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in allele M). extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) GGTTACCTCCTTGTGGGGGTG 0.622000 45 726 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104054501 104054501 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr12:104054501G>T ENST00000388887.2 + 17 2033 c.1829G>T c.(1828-1830)aGc>aTc p.S610I NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 610 FAS1 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CACATCAGGAGCATGGCCAAC 0.478000 21 38 2.52088e-20 3.51335e-20 1 1 0 APBA1 320 broad.mit.edu 37 9 72131021 72131021 + Missense_Mutation SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr9:72131021T>C ENST00000265381.4 - 2 1328 c.1106A>G c.(1105-1107)tAc>tGc p.Y369C NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 369 Pro-rich. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 GTCGGGGGTGTAAGGCGAACG 0.597000 33 59 0 0 1 0 0 CPEB4 80315 broad.mit.edu 37 5 173337529 173337529 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr5:173337529C>G ENST00000265085.5 + 2 2583 c.1129C>G c.(1129-1131)Cgc>Ggc p.R377G CPEB4_ENST00000517880.1_5'UTR|CPEB4_ENST00000334035.5_Missense_Mutation_p.R377G|CPEB4_ENST00000522336.1_5'UTR|CPEB4_ENST00000520867.1_Missense_Mutation_p.R377G|CPEB4_ENST00000519835.1_Missense_Mutation_p.R377G NM_030627.2 NP_085130.2 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding protein 4 377 nucleotide binding|RNA binding NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TCTACAGGATCGCCCCAGGAC 0.368000 45 27 0 0 1 0 0 ATOH1 474 broad.mit.edu 37 4 94750208 94750208 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr4:94750208G>C ENST00000306011.3 + 1 167 c.131G>C c.(130-132)aGa>aCa p.R44T NM_005172.1 NP_005163.1 Q92858 ATOH1_HUMAN atonal homolog 1 (Drosophila) 44 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.57e-07) TTGCAGGCGAGAGAGCATCCC 0.682000 8 39 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133911137 133911137 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr8:133911137C>A ENST00000220616.4 + 14 3352 c.3312C>A c.(3310-3312)ttC>ttA p.F1104L TG_ENST00000377869.1_Missense_Mutation_p.F1104L NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1104 Thyroglobulin type-1 9. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity p.F1104F(1) NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AAGACCTGTTCGTCCCAGCCT 0.517000 11 29 1.08611e-07 1.27312e-07 1 1 0 VCAN 1462 broad.mit.edu 37 5 82789364 82789364 + Splice_Site SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr5:82789364G>A ENST00000265077.3 + 4 1010 c.e4-1 VCAN_ENST00000512590.2_Splice_Site|VCAN_ENST00000513984.1_Splice_Site|VCAN_ENST00000502527.2_Splice_Site|VCAN_ENST00000343200.5_Splice_Site|VCAN_ENST00000342785.4_Splice_Site NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TGTTTTTGCAGGGGTTGTGTT 0.463000 23 13 0 0 1 0 0 PROKR2 128674 broad.mit.edu 37 20 5294737 5294737 + Silent SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr20:5294737G>T ENST00000546004.1 - 2 525 c.279C>A c.(277-279)gcC>gcA p.A93A PROKR2_ENST00000217270.3_Silent_p.A93A Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 93 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 TGGCCAGGTTGGCAATGAGCA 0.572000 HNSCC(71;0.22) 9 37 0.0581538 0.0597285 1 1 0 ZMYND8 23613 broad.mit.edu 37 20 45927651 45927651 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr20:45927651G>A ENST00000311275.7 - 4 468 c.215C>T c.(214-216)cCa>cTa p.P72L ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P92L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P92L|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000468376.2_Intron|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000396281.4_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P72L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P92L|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P72L|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P99L Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 72 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) TGTGGTGAGTGGCTGCTTCAT 0.453000 20 35 0 0 1 0 0 VTA1 51534 broad.mit.edu 37 6 142539729 142539729 + Silent SNP T T A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:142539729T>A ENST00000367630.4 + 8 931 c.873T>A c.(871-873)gcT>gcA p.A291A VTA1_ENST00000452973.2_Silent_p.A206A|VTA1_ENST00000367621.1_Silent_p.A233A NM_016485.3 NP_057569.2 Q9NP79 VTA1_HUMAN vesicle (multivesicular body) trafficking 1 291 Interaction with VPS4B (By similarity). cellular membrane organization|endosome transport|protein transport cytosol|endosome membrane protein binding endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) TAAGCACTGCTGTCCAGAATC 0.443000 20 35 0 0 1 0 0 OR56A4 120793 broad.mit.edu 37 11 6023446 6023446 + Silent SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:6023446C>A ENST00000330728.4 - 1 978 c.933G>T c.(931-933)ctG>ctT p.L311L NM_001005179.2 NP_001005179.2 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, member 4 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGACCAGAACCAGCAGGACTG 0.552000 5 15 0.014758 0.0153959 1 1 0 AREL1 9870 broad.mit.edu 37 14 75136663 75136663 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr14:75136663C>A ENST00000356357.4 - 14 2290 c.1775G>T c.(1774-1776)cGt>cTt p.R592L AREL1_ENST00000557401.1_5'UTR NM_001039479.1 NP_001034568.1 apoptosis resistant E3 ubiquitin protein ligase 1 GTAATGCATACGCAGTCCTAT 0.493000 18 42 6.94344e-10 8.55445e-10 1 1 0 CCT8L2 150160 broad.mit.edu 37 22 17073429 17073429 + Silent SNP T T A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr22:17073429T>A ENST00000359963.3 - 1 271 c.12A>T c.(10-12)acA>acT p.T4T NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 4 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CTGAAGGGACTGTGCTGTCCA 0.627000 19 23 0 0 1 0 0 OR8D4 338662 broad.mit.edu 37 11 123777182 123777182 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:123777182C>T ENST00000321355.2 + 1 74 c.44C>T c.(43-45)tCa>tTa p.S15L NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 15 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TTTCTTCTTTCAGGATTAACT 0.408000 33 26 0 0 1 0 0 ATF7IP 55729 broad.mit.edu 37 12 14650641 14650641 + Silent SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr12:14650641G>A ENST00000544627.1 + 15 3791 c.3471G>A c.(3469-3471)caG>caA p.Q1157Q ATF7IP_ENST00000261168.4_Silent_p.Q1149Q|ATF7IP_ENST00000540793.1_Silent_p.Q1149Q|ATF7IP_ENST00000536444.1_Silent_p.Q1148Q Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 1149 Fibronectin type-III.|Interaction with MBD1. 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 CACAACCACAGCGTCTGCCCC 0.522000 13 31 0 0 1 0 0 USP25 29761 broad.mit.edu 37 21 17236767 17236767 + Splice_Site SNP T T A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr21:17236767T>A ENST00000285681.2 + 20 2981 c.e20+2 USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Splice_Site|USP25_ENST00000400183.2_Splice_Site Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2) 52 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) TGATGAAAGGTAATTTGAAAG 0.294000 4 2 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48347268 48347268 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:48347268G>T ENST00000319856.4 + 1 797 c.776G>T c.(775-777)tGc>tTc p.C259F NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 GATGGGAGATGCAAAGCCCTC 0.468000 13 49 1.61879e-10 2.02731e-10 1 1 0 LDB3 11155 broad.mit.edu 37 10 88477870 88477870 + Missense_Mutation SNP T T A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr10:88477870T>A ENST00000429277.2 + 11 1986 c.1841T>A c.(1840-1842)cTg>cAg p.L614Q LDB3_ENST00000458213.2_Missense_Mutation_p.L499Q|LDB3_ENST00000352360.5_Missense_Mutation_p.L352Q|LDB3_ENST00000263066.6_Missense_Mutation_p.L499Q|LDB3_ENST00000361373.4_Missense_Mutation_p.L609Q NM_001171610.1 NP_001165081.1 O75112 LDB3_HUMAN LIM domain binding 3 609 LIM zinc-binding 2. cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 TTTGCCCCGCTGTGTGCCAAG 0.522000 81 16 0 0 1 0 0 ZNF684 127396 broad.mit.edu 37 1 41012254 41012254 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:41012254G>C ENST00000372699.3 + 5 510 c.259G>C c.(259-261)Gat>Cat p.D87H ZNF684_ENST00000493756.1_3'UTR NM_152373.3 NP_689586.3 Q5T5D7 ZN684_HUMAN zinc finger protein 684 87 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.42e-18) CCCACTTGTTGATGAACCAGG 0.343000 4 38 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26506860 26506860 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr10:26506860G>A ENST00000376261.3 + 3 729 c.226G>A c.(226-228)Gac>Aac p.D76N GAD2_ENST00000259271.3_Missense_Mutation_p.D76N NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 76 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) CTGCGCCTGCGACCAGAAGCC 0.697000 13 26 0 0 1 0 0 CA8 767 broad.mit.edu 37 8 61137132 61137132 + Missense_Mutation SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr8:61137132T>C ENST00000317995.4 - 6 853 c.589A>G c.(589-591)Aca>Gca p.T197A CA8_ENST00000528666.1_5'UTR NM_004056.4 NP_004047.3 P35219 CAH8_HUMAN carbonic anhydrase VIII 197 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1) 16 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) CAAGGTATTGTTTTGGACTTC 0.264000 32 83 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179535851 179535851 + Silent SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:179535851A>T ENST00000589042.1 - 156 35498 c.35274T>A c.(35272-35274)acT>acA p.T11758T TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.T11384T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.T10457T|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9876 Glu-rich.|Pro-rich. 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) GAACAACTTTAGTGGGCGGTT 0.363000 11 16 0 0 1 0 0 CDADC1 81602 broad.mit.edu 37 13 49823102 49823102 + Splice_Site SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr13:49823102G>T ENST00000251108.6 + 2 290 c.e2+1 CDADC1_ENST00000444959.1_Splice_Site|CDADC1_ENST00000538056.1_Splice_Site|CDADC1_ENST00000496952.1_Splice_Site NM_001193478.1|NM_030911.3 NP_001180407.1|NP_112173.1 Q9BWV3 CDAC1_HUMAN cytidine and dCMP deaminase domain containing 1 hydrolase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 16 Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216) AAAATCTCAGGTATAATTTGT 0.408000 36 23 2.47316e-13 3.21087e-13 1 1 0 GRM5 2915 broad.mit.edu 37 11 88323788 88323788 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:88323788C>A ENST00000418177.2 - 7 2038 c.1671G>T c.(1669-1671)tgG>tgT p.W557C GRM5_ENST00000393297.1_Missense_Mutation_p.W557C|GRM5_ENST00000305447.4_Missense_Mutation_p.W557C|GRM5_ENST00000455756.2_Missense_Mutation_p.W557C|GRM5_ENST00000305432.5_Missense_Mutation_p.W557C P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 557 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CATCAGTGGGCCAAGACCCCA 0.473000 16 33 4.7546e-09 5.76414e-09 1 1 0 DNAH11 8701 broad.mit.edu 37 7 21639713 21639713 + Silent SNP A A C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:21639713A>C ENST00000328843.6 + 15 3007 c.2976A>C c.(2974-2976)acA>acC p.T992T DNAH11_ENST00000409508.3_Silent_p.T992T Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 992 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GAATAGCAACACACCTGGAAA 0.358000 Kartagener syndrome 14 29 0 0 1 0 0 SULF1 23213 broad.mit.edu 37 8 70550989 70550989 + Missense_Mutation SNP C C T rs111626231 TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr8:70550989C>T ENST00000260128.4 + 21 3164 c.2447C>T c.(2446-2448)aCg>aTg p.T816M SULF1_ENST00000402687.4_Missense_Mutation_p.T816M|SULF1_ENST00000419716.3_Missense_Mutation_p.T816M|SULF1_ENST00000458141.2_Missense_Mutation_p.T816M|SULF1_ENST00000521946.1_3'UTR NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 816 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) ACAGTGCACACGGTAGAACGA 0.388000 24 84 0 0 1 0 0 BOLL 66037 broad.mit.edu 37 2 198621153 198621153 + Splice_Site SNP T T G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:198621153T>G ENST00000321801.7 - 9 1334 c.765_splice c.e9+1 p.E255_splice BOLL_ENST00000392296.4_Splice_Site_p.E243_splice|BOLL_ENST00000433157.1_Splice_Site_p.E243_splice|AC011997.1_ENST00000409845.1_Intron|BOLL_ENST00000282278.8_Splice_Site_p.E134_splice|BOLL_ENST00000430004.1_Splice_Site_p.E265_splice NM_197970.2 NP_932074.1 Q8N9W6 BOLL_HUMAN boule-like RNA-binding protein 243 cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm nucleotide binding|protein binding|RNA binding|translation activator activity central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1) 13 AATACATACCTCTGGAACTGA 0.363000 8 16 0 0 1 0 0 AOAH 313 broad.mit.edu 37 7 36671702 36671702 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:36671702C>A ENST00000431169.1 - 6 761 c.461G>T c.(460-462)aGa>aTa p.R154I AOAH_ENST00000258749.5_Missense_Mutation_p.R154I|AOAH_ENST00000535891.1_Missense_Mutation_p.R122I NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 154 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 AGAACCACTTCTAGAATATTT 0.388000 7 12 0.0381472 0.0393324 1 1 0 AFF3 3899 broad.mit.edu 37 2 100209883 100209883 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:100209883G>A ENST00000317233.4 - 14 2475 c.2240C>T c.(2239-2241)cCc>cTc p.P747L AFF3_ENST00000409579.1_Missense_Mutation_p.P772L|AFF3_ENST00000409236.1_Missense_Mutation_p.P747L|AFF3_ENST00000356421.2_Missense_Mutation_p.P772L NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 747 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 CCGGCCAAAGGGGACCAGTGT 0.577000 29 38 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79980395 79980395 + Missense_Mutation SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr9:79980395A>T ENST00000360280.3 + 60 8491 c.8231A>T c.(8230-8232)gAt>gTt p.D2744V VPS13A_ENST00000376634.4_Missense_Mutation_p.D2744V|VPS13A_ENST00000376636.3_Missense_Mutation_p.D2705V|VPS13A_ENST00000357409.5_Missense_Mutation_p.D2744V NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 2744 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TTTCATAAAGATATAGAAGCT 0.323000 7 24 0 0 1 0 0 HNRNPA3 220988 broad.mit.edu 37 2 178080842 178080842 + Missense_Mutation SNP A A T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:178080842A>T ENST00000411529.2 + 4 464 c.413A>T c.(412-414)gAc>gTc p.D138V HNRNPA3_ENST00000392524.2_Missense_Mutation_p.D160V|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.D160V NM_194247.2 NP_919223.1 P51991 ROA3_HUMAN heterogeneous nuclear ribonucleoprotein A3 160 RRM 2. catalytic step 2 spliceosome|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1) 16 GTTATGGAAGACAGGCAGAGT 0.308000 16 18 0 0 1 0 0 PDDC1 347862 broad.mit.edu 37 11 773589 773589 + Silent SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr11:773589C>A ENST00000319863.8 - 4 309 c.288G>T c.(286-288)ggG>ggT p.G96G PDDC1_ENST00000397472.2_Silent_p.G96G|PDDC1_ENST00000524550.1_Intron|PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000526325.1_Silent_p.G96G|PDDC1_ENST00000442059.2_Silent_p.G46G NM_182612.2 NP_872418.1 Q8NB37 PDDC1_HUMAN Parkinson disease 7 domain containing 1 96 extracellular region kidney(1)|lung(3)|urinary_tract(1) 5 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) CGGTCAGGGCCCCAGGACAGC 0.642000 8 18 0.000274275 0.000299056 1 1 0 SH3PXD2A 9644 broad.mit.edu 37 10 105362864 105362864 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr10:105362864G>C ENST00000369774.4 - 15 2387 c.2111C>G c.(2110-2112)tCt>tGt p.S704C SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S539C|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S571C|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S676C|SH3PXD2A_ENST00000427662.2_Intron Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 704 Ser-rich. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) ggaggaggaagaggaggagCA 0.577000 25 100 0 0 1 0 0 TENC1 23371 broad.mit.edu 37 12 53451445 53451445 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr12:53451445G>T ENST00000314250.6 + 12 1230 c.940G>T c.(940-942)Gcc>Tcc p.A314S TENC1_ENST00000379902.3_Missense_Mutation_p.A190S|TENC1_ENST00000546602.1_Missense_Mutation_p.A314S|TENC1_ENST00000314276.3_Missense_Mutation_p.A324S|TENC1_ENST00000451358.1_Missense_Mutation_p.A314S|TENC1_ENST00000552570.1_Missense_Mutation_p.A314S|TENC1_ENST00000549700.1_Missense_Mutation_p.A314S NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 314 C2 tensin-type. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 CATGCTGCCAGCCTTTGAACC 0.562000 79 116 6.43283e-47 9.51485e-47 1 1 0 DPYSL3 1809 broad.mit.edu 37 5 146777234 146777234 + Missense_Mutation SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr5:146777234T>C ENST00000343218.5 - 12 1995 c.1798A>G c.(1798-1800)Agg>Ggg p.R600G DPYSL3_ENST00000534907.1_Missense_Mutation_p.R112G|DPYSL3_ENST00000398514.3_Missense_Mutation_p.R486G NM_001197294.1 NP_001184223.1 Q14195 DPYL3_HUMAN dihydropyrimidinase-like 3 486 axon guidance|pyrimidine base catabolic process|signal transduction cytosol|growth cone dihydropyrimidinase activity breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTACCTTCCTCCGTGCTTTA 0.537000 28 18 0 0 1 0 0 PTPN13 5783 broad.mit.edu 37 4 87726497 87726497 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr4:87726497G>C ENST00000436978.1 + 44 7215 c.6735G>C c.(6733-6735)aaG>aaC p.K2245N PTPN13_ENST00000411767.2_Missense_Mutation_p.K2240N|PTPN13_ENST00000316707.6_Missense_Mutation_p.K2049N|PTPN13_ENST00000427191.2_Missense_Mutation_p.K2221N|PTPN13_ENST00000511467.1_Missense_Mutation_p.K2245N NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 2240 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) ACAGAAGGAAGAACAGATATA 0.289000 5 29 0 0 1 0 0 TWISTNB 221830 broad.mit.edu 37 7 19738286 19738286 + Missense_Mutation SNP T T C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:19738286T>C ENST00000222567.5 - 4 740 c.670A>G c.(670-672)Aaa>Gaa p.K224E NM_001002926.1 NP_001002926.1 Q3B726 RPA43_HUMAN TWIST neighbor 224 Lys-rich. microtubule cytoskeleton|nucleolus DNA-directed RNA polymerase activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 20 TTAGGTTTTTTAGCAGCTTCC 0.358000 59 95 0 0 1 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151151761 151151761 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:151151761C>T ENST00000367328.1 + 16 1826 c.1514C>T c.(1513-1515)cCg>cTg p.P505L PLEKHG1_ENST00000358517.2_Missense_Mutation_p.P505L NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 505 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) TCAGCAAGGCCGTCTCCTGCC 0.507000 14 24 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 122004328 122004328 + Silent SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr9:122004328G>T ENST00000265922.3 - 4 1037 c.576C>A c.(574-576)atC>atA p.I192I DBC1_ENST00000373964.2_Silent_p.I192I NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 192 MACPF. cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GCTGTACCTTGATTGCTCCAG 0.483000 48 45 3.39706e-21 4.75946e-21 1 1 0 AMPD2 271 broad.mit.edu 37 1 110171389 110171389 + Frame_Shift_Del DEL C C - TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:110171389delC ENST00000256578.3 + 12 2054 c.1694delC c.(1693-1695)tcfs p.S565fs RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000393688.3_Frame_Shift_Del_p.S446fs|AMPD2_ENST00000342115.4_Frame_Shift_Del_p.S484fs|AMPD2_ENST00000358729.4_Frame_Shift_Del_p.S490fs|AMPD2_ENST00000528667.1_Frame_Shift_Del_p.S565fs|AMPD2_ENST00000528454.1_Frame_Shift_Del_p.S447fs NM_004037.7 NP_004028.3 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 565 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) CGCGTGCACTCCCCCAACGTG 0.647 2 4 --- --- --- --- SPTA1 6708 broad.mit.edu 37 1 158623181 158623181 + Frame_Shift_Del DEL C C - TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr1:158623181delC ENST00000368148.3 - 22 3251 c.3071delG c.(3070-3072)gcfs p.G1024fs SPTA1_ENST00000368147.3_Frame_Shift_Del_p.G1024fs NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1024 SH3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGGGACAATGCCCTGATGATC 0.552 22 36 --- --- --- --- EIF2AK3 9451 broad.mit.edu 37 2 88857359 88857359 + Frame_Shift_Del DEL A A - TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:88857359delA ENST00000303236.3 - 17 3547 c.3246delT c.(3244-3246)ttfs p.F1082fs AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000419748.1_Frame_Shift_Del_p.F931fs NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 1082 activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 TTTTTCCTGGAAAGTCCAAGT 0.458 60 76 --- --- --- --- BARD1 580 broad.mit.edu 37 2 215674167 215674167 + Frame_Shift_Del DEL G G - TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:215674167delG ENST00000260947.4 - 1 261 c.127delC c.(127-129)gcfs p.R43fs BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_5'UTR NM_000465.2 NP_000456.2 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 43 Interaction with BRCA1. cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1) 35 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TTCTCCAGGCGGTCGAGCGCG 0.701 Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 4 3 --- --- --- --- LOC728323 728323 broad.mit.edu 37 2 243056967 243056967 + RNA DEL T T - TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr2:243056967delT ENST00000456398.1 + 0 413 CAGTGCTATCTTATGAAATAA 0.299 2 4 --- --- --- --- NEK11 79858 broad.mit.edu 37 3 130748712 130748712 + Frame_Shift_Del DEL G G - TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr3:130748712delG ENST00000383366.4 + 3 453 c.160delG c.(160-162)gafs p.G54fs NEK11_ENST00000511262.1_Frame_Shift_Del_p.G54fs|NEK11_ENST00000412440.2_5'UTR|NEK11_ENST00000510769.1_Frame_Shift_Del_p.G54fs|NEK11_ENST00000356918.4_Frame_Shift_Del_p.G54fs|NEK11_ENST00000510688.1_Frame_Shift_Del_p.G54fs|NEK11_ENST00000508196.1_Frame_Shift_Del_p.G54fs|NEK11_ENST00000507910.1_Frame_Shift_Del_p.G54fs|NEK11_ENST00000429253.2_Frame_Shift_Del_p.G54fs NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 54 Protein kinase. cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 AGCCAAACGAGGAGAGGAATT 0.418 23 21 --- --- --- --- PACRGL 133015 broad.mit.edu 37 4 20711341 20711341 + Frame_Shift_Del DEL G G - TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr4:20711341delG ENST00000360916.5 + 5 702 c.311delG c.(310-312)tgfs p.W104fs PACRGL_ENST00000295290.8_Frame_Shift_Del_p.W104fs|PACRGL_ENST00000502374.1_Intron|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000507634.1_Frame_Shift_Del_p.W104fs|PACRGL_ENST00000503585.1_Frame_Shift_Del_p.W104fs|PACRGL_ENST00000444671.2_Intron|PACRGL_ENST00000513459.1_Intron NM_145048.3 NP_659485.1 Q8N7B6 PACRL_HUMAN PARK2 co-regulated-like 104 W -> R (in Ref. 1; BAC05381). binding endometrium(2)|lung(7)|prostate(1) 10 AGATTACAGTGGGAATGTCCT 0.294 15 21 --- --- --- --- CSN1S1 1446 broad.mit.edu 37 4 70808271 70808271 + Frame_Shift_Del DEL G G - TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr4:70808271delG ENST00000246891.4 + 14 427 c.378delG c.(376-378)atfs p.M126fs CSN1S1_ENST00000505782.1_Frame_Shift_Del_p.M110fs|CSN1S1_ENST00000444405.3_Frame_Shift_Del_p.M117fs|CSN1S1_ENST00000507772.1_Frame_Shift_Del_p.M118fs|CSN1S1_ENST00000507763.1_Frame_Shift_Del_p.M117fs NM_001890.1 NP_001881.1 P47710 CASA1_HUMAN casein alpha s1 126 extracellular region protein binding|transporter activity lung(5)|prostate(1)|upper_aerodigestive_tract(1) 7 TTCGCAGAATGAATGAAAACA 0.318 2 4 --- --- --- --- FAT2 2196 broad.mit.edu 37 5 150925814 150925814 + Frame_Shift_Del DEL G G - TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr5:150925814delG ENST00000261800.5 - 9 4886 c.4874delC c.(4873-4875)cafs p.P1625fs NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 1625 Cadherin 14. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGAGTATGTGGGGCATGATT 0.483 18 13 --- --- --- --- TNXB 7148 broad.mit.edu 37 6 32049365 32049366 + Frame_Shift_Ins INS - - G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr6:32049365_32049366insG ENST00000375244.3 - 10 4022_4023 c.3821_3822insC c.(3820-3822)cgafs p.R1274fs TNXB_ENST00000375247.2_Frame_Shift_Ins_p.R1274fs P22105 TENX_HUMAN tenascin XB 1361 Fibronectin type-III 5. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GCAAGGAGTCTGGGGTCACGCC 0.619 8 8 --- --- --- --- EPHB4 2050 broad.mit.edu 37 7 100410581 100410581 + Frame_Shift_Del DEL C C - TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:100410581delC ENST00000358173.3 - 12 2374 c.1906delG c.(1906-1908)ccfs p.A636fs EPHB4_ENST00000360620.3_Frame_Shift_Del_p.A636fs NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 636 Protein kinase. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) TTCCCTGGGGCCTTGAGCCGC 0.637 49 102 --- --- --- --- DNAJC2 27000 broad.mit.edu 37 7 102956305 102956305 + Frame_Shift_Del DEL T T - TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:102956305delT ENST00000379263.3 - 15 1792 c.1542delA c.(1540-1542)aafs p.K514fs DNAJC2_ENST00000249270.7_Frame_Shift_Del_p.K461fs|PMPCB_ENST00000420236.2_Intron NM_014377.1 NP_055192.1 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 514 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding p.K472K(1)|p.K461K(1) endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 TTATGTCATCTTTTTGATGAG 0.294 13 9 --- --- --- --- KRBA1 84626 broad.mit.edu 37 7 149431122 149431123 + Frame_Shift_Ins INS - - G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr7:149431122_149431123insG ENST00000255992.10 + 18 3475_3476 c.3076_3077insG c.(3076-3078)gggfs p.G1026fs KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Frame_Shift_Ins_p.G966fs|KRBA1_ENST00000485033.2_Frame_Shift_Ins_p.G966fs NM_032534.2 NP_115923.2 A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 1027 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGACCCGAGATGGGGGGCGCAT 0.663 6 6 --- --- --- --- PTPDC1 138639 broad.mit.edu 37 9 96863913 96863922 + Frame_Shift_Del DEL ATGCAGCTTG ATGCAGCTTG - TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr9:96863913_96863922delATGCAGCTTG ENST00000375360.3 + 8 2257_2266 c.1917_1926delATGCAGCTTG c.(1915-1926)ctfs p.LCSL639fs PTPDC1_ENST00000467049.1_3'UTR|PTPDC1_ENST00000288976.3_Frame_Shift_Del_p.LCSL691fs NM_001253830.1|NM_177995.2 NP_001240759.1|NP_818931.1 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 639 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 CTTTCATCCTATGCAGCTTGATGTGGTCTT 0.476 10 131 --- --- --- --- CAMKK2 10645 broad.mit.edu 37 12 121707362 121707362 + Frame_Shift_Del DEL A A - TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr12:121707362delA ENST00000324774.5 - 4 1370 c.542delT c.(541-543)tgfs p.L181fs CAMKK2_ENST00000337174.3_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000347034.2_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000412367.2_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000402834.4_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000392473.2_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000392474.2_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000538733.1_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000446440.2_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000404169.3_Frame_Shift_Del_p.L181fs NM_006549.3 NP_006540.3 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase kinase 2, beta 181 Protein kinase. calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ATTGTAGGCCAACTTGACGAC 0.473 2 4 --- --- --- --- NAE1 8883 broad.mit.edu 37 16 66839679 66839679 + Splice_Site DEL C C - TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr16:66839679delC ENST00000379463.2 - 20 1670 c.e20+1 NAE1_ENST00000359087.4_Splice_Site|NAE1_ENST00000290810.3_Splice_Site|NAE1_ENST00000394074.2_Splice_Site NM_001018159.1 NP_001018169.1 Q13564 ULA1_HUMAN NEDD8 activating enzyme E1 subunit 1 apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction cytoplasm|insoluble fraction|plasma membrane catalytic activity|protein heterodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214) Adenosine triphosphate(DB00171) ATGGAACTCACCCCCCAAGAA 0.403 7 11 --- --- --- --- PPFIA3 8541 broad.mit.edu 37 19 49641518 49641518 + Frame_Shift_Del DEL G G - TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chr19:49641518delG ENST00000334186.4 + 16 2259 c.1910delG c.(1909-1911)cgfs p.R637fs PPFIA3_ENST00000602351.1_Frame_Shift_Del_p.R637fs NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 637 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) CTGGAGAGTCGGGTGTCCAGC 0.642 13 26 --- --- --- --- CYSLTR1 10800 broad.mit.edu 37 X 77529023 77529024 + Frame_Shift_Del DEL CA CA - TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e427004c-f7fc-4631-8c7e-79f8fcd52c07 bfd5df8f-d8b8-466c-b85a-72baa52802a2 g.chrX:77529023_77529024delCA ENST00000373304.3 - 3 512_513 c.220_221delTG c.(220-222)cfs p.C74fs NM_006639.2 NP_006630.1 Q9Y271 CLTR1_HUMAN cysteinyl leukotriene receptor 1 74 elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) AGGCAGTGTGCACACACAAAGT 0.436 24 10 --- --- --- ---