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 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 5 105 0 0 1 0 0 RCBTB1 55213 broad.mit.edu 37 13 50123697 50123697 + Silent SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr13:50123697C>T ENST00000378302.2 - 9 1202 c.942G>A c.(940-942)cgG>cgA p.R314R RCBTB1_ENST00000258646.3_Silent_p.R314R|RCBTB1_ENST00000546015.1_Silent_p.R314R NM_018191.3 NP_060661.3 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 314 cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1) 16 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) CGGACTGACCCCGGCACTGGC 0.617000 9 49 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155255094 155255094 + RNA SNP T T C TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chrX:155255094T>C ENST00000285718.7 + 0 1399 WASH6P_ENST00000461007.1_RNA TGCTCTGACATGGACACAGCC 0.617000 4 12 0 0 1 0 0 KRT40 125115 broad.mit.edu 37 17 39135153 39135153 + Nonsense_Mutation SNP G G A TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr17:39135153G>A ENST00000377755.4 - 6 1133 c.1099C>T c.(1099-1101)Cga>Tga p.R367* KRT40_ENST00000398486.2_Nonsense_Mutation_p.R367* Q6A162 K1C40_HUMAN keratin 40 367 Coil 2.|Rod. intermediate filament structural molecule activity endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Breast(137;0.00043) TGGTTCTGTCGCTCCAGGTCG 0.617000 4 130 0 0 1 0 0 NUP93 9688 broad.mit.edu 37 16 56792500 56792500 + Missense_Mutation SNP G G T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr16:56792500G>T ENST00000569842.1 + 3 326 c.230G>T c.(229-231)cGa>cTa p.R77L NUP93_ENST00000308159.5_Missense_Mutation_p.R77L Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 77 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 ATCTCCCAGCGATTGGAGAGT 0.507000 15 57 6.72482e-11 7.33617e-11 1 1 0 PLCXD2 257068 broad.mit.edu 37 3 111394231 111394231 + Missense_Mutation SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr3:111394231C>T ENST00000393934.3 + 1 709 c.139C>T c.(139-141)Ccc>Tcc p.P47S PLCXD2_ENST00000477665.1_Missense_Mutation_p.P47S NM_153268.3 NP_695000.1 Q0VAA5 PLCX2_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 2 47 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1) 17 CCACAACCTCCCCCTTTCCAA 0.537000 18 75 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231150512 231150512 + Missense_Mutation SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr2:231150512C>T ENST00000392045.3 + 17 1724 c.1610C>T c.(1609-1611)gCg>gTg p.A537V SP140_ENST00000486687.2_Missense_Mutation_p.A461V|SP140_ENST00000420434.3_Missense_Mutation_p.A510V|SP140_ENST00000417495.3_Missense_Mutation_p.A423V|SP140_ENST00000343805.6_Missense_Mutation_p.A477V|SP140_ENST00000350136.5_Missense_Mutation_p.A406V NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 537 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GAAAAGAAGGCGAACGTGAAT 0.448000 17 115 0 0 1 0 0 KDELR2 0 broad.mit.edu 37 7 6505884 6505884 + Missense_Mutation SNP G G A TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr7:6505884G>A ENST00000258739.4 - 4 606 c.422C>T c.(421-423)aCt>aTt p.T141I KDELR2_ENST00000490996.1_Intron|DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000463747.1_Intron NM_006854.3 NP_006845.1 P33947 ERD22_HUMAN KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2 141 intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport endoplasmic reticulum membrane|Golgi apparatus|integral to membrane KDEL sequence binding|protein binding|receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1) 10 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) GGCCTCCCCAGTCTTGCTGAT 0.527000 17 69 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19747223 19747223 + Missense_Mutation SNP G G T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr5:19747223G>T ENST00000507958.1 - 6 1341 c.351C>A c.(349-351)gaC>gaA p.D117E CDH18_ENST00000511273.1_Missense_Mutation_p.D117E|CDH18_ENST00000506372.1_Missense_Mutation_p.D117E|CDH18_ENST00000502796.1_Missense_Mutation_p.D117E|CDH18_ENST00000274170.4_Missense_Mutation_p.D117E|CDH18_ENST00000382275.1_Missense_Mutation_p.D117E Q13634 CAD18_HUMAN cadherin 18, type 2 117 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D117E(2) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TCTGCTCTCTGTCTAGGCTTT 0.443000 25 71 1.66031e-10 1.78802e-10 1 1 0 SREBF2 6721 broad.mit.edu 37 22 42266998 42266998 + Missense_Mutation SNP G G A TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr22:42266998G>A ENST00000361204.4 + 4 992 c.826G>A c.(826-828)Gcc>Acc p.A276T NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 276 Interaction with LMNA (By similarity). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 GGCCCTCACCGCCCTCACCAC 0.577000 50 83 0 0 1 0 0 AARS 16 broad.mit.edu 37 16 70287893 70287893 + Missense_Mutation SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr16:70287893C>T ENST00000261772.8 - 18 2592 c.2449G>A c.(2449-2451)Gag>Aag p.E817K NM_001605.2 NP_001596.2 P49588 SYAC_HUMAN alanyl-tRNA synthetase 817 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) TTGAGAGTCTCCCGCAATTCA 0.557000 OREG0023912 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 129 0 0 1 0 0 PROKR1 10887 broad.mit.edu 37 2 68882314 68882314 + Missense_Mutation SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr2:68882314C>T ENST00000303786.3 + 3 1208 c.788C>T c.(787-789)gCg>gTg p.A263V PROKR1_ENST00000394342.2_Missense_Mutation_p.A263V Q8TCW9 PKR1_HUMAN prokineticin receptor 1 263 integral to membrane|plasma membrane neuropeptide Y receptor activity endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TGGTTCAAGGCGGTCCCTGGA 0.582000 10 38 0 0 1 0 0 FAM129B 64855 broad.mit.edu 37 9 130285973 130285973 + Missense_Mutation SNP G G A TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr9:130285973G>A ENST00000373312.3 - 5 787 c.574C>T c.(574-576)Cgg>Tgg p.R192W FAM129B_ENST00000373314.3_Missense_Mutation_p.R179W|FAM129B_ENST00000468379.1_Intron NM_022833.2 NP_073744.2 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 192 PH. protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 TTGCAGTGCCGGATGCAGTCC 0.587000 OREG0019507 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 37 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54314082 54314082 + Silent SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr19:54314082C>T ENST00000324134.6 - 3 999 c.831G>A c.(829-831)gcG>gcA p.A277A NLRP12_ENST00000391773.1_Silent_p.A277A|NLRP12_ENST00000391772.1_Silent_p.A277A|NLRP12_ENST00000535162.1_Silent_p.A277A|NLRP12_ENST00000351894.4_Silent_p.A277A|NLRP12_ENST00000354278.3_Silent_p.A277A|NLRP12_ENST00000391775.3_Silent_p.A277A|NLRP12_ENST00000345770.5_Silent_p.A277A NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 277 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CCTGGAGAGGCGCGCTGGGCT 0.557000 13 44 0 0 1 0 0 PCDHGA3 0 broad.mit.edu 37 5 140725053 140725053 + Missense_Mutation SNP G G A TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr5:140725053G>A ENST00000253812.6 + 1 1453 c.1453G>A c.(1453-1455)Gcc>Acc p.A485T 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) CAACAACAACGCCCGCATCAC 0.552000 26 84 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26377316 26377316 + Missense_Mutation SNP G G A TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr10:26377316G>A ENST00000265944.5 + 15 1710 c.1544G>A c.(1543-1545)cGa>cAa p.R515Q MYO3A_ENST00000543632.1_Missense_Mutation_p.R515Q NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 515 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GAAAAATCCCGAGTTATCCAC 0.358000 11 19 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7724586 7724586 + Missense_Mutation SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr17:7724586C>T ENST00000572933.1 + 73 12501 c.11041C>T c.(11041-11043)Cgc>Tgc p.R3681C DNAH2_ENST00000389173.2_Missense_Mutation_p.R3681C Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3681 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCTTTTCGAACGCCACAAACT 0.498000 10 97 0 0 1 0 0 TAB3 257397 broad.mit.edu 37 X 30873304 30873304 + Missense_Mutation SNP G G T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chrX:30873304G>T ENST00000378933.1 - 3 655 c.478C>A c.(478-480)Cca>Aca p.P160T TAB3_ENST00000288422.2_Missense_Mutation_p.P160T|TAB3_ENST00000378930.3_Missense_Mutation_p.P160T|TAB3_ENST00000378932.2_Missense_Mutation_p.P160T NM_152787.3 NP_690000.2 Q8N5C8 TAB3_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 3 160 Pro-rich. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB 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|endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1) 27 ATGGAAGATGGCTGTTGAGGT 0.478000 33 114 2.47316e-13 2.73349e-13 1 1 0 NANS 54187 broad.mit.edu 37 9 100843119 100843119 + Missense_Mutation SNP G G T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr9:100843119G>T ENST00000210444.5 + 5 695 c.625G>T c.(625-627)Gac>Tac p.D209Y NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000375098.3_Intron NM_018946.3 NP_061819.2 Q9NR45 SIAS_HUMAN N-acetylneuraminic acid synthase 209 lipopolysaccharide biosynthetic process cytoplasm N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 11 Acute lymphoblastic leukemia(62;0.0559) GCTCTTTCCTGACATTCCCAT 0.428000 25 75 3.6726e-16 4.11331e-16 1 1 0 RIC8A 60626 broad.mit.edu 37 11 210610 210610 + Missense_Mutation SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr11:210610C>T ENST00000526104.1 + 4 2110 c.766C>T c.(766-768)Cgg>Tgg p.R256W RIC8A_ENST00000527696.1_Missense_Mutation_p.R250W|RIC8A_ENST00000325207.5_Missense_Mutation_p.R256W Q9NPQ8 RIC8A_HUMAN RIC8 guanine nucleotide exchange factor A 256 cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1) 13 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) GACCCTTCTCCGGCACTGTGT 0.577000 26 90 0 0 1 0 0 SNTB1 6641 broad.mit.edu 37 8 121706138 121706138 + Missense_Mutation SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr8:121706138C>T ENST00000395601.3 - 3 996 c.582G>A c.(580-582)atG>atA p.M194I SNTB1_ENST00000517992.1_Missense_Mutation_p.M194I|SNTB1_ENST00000519177.1_5'UTR NM_021021.3 NP_066301.1 Q13884 SNTB1_HUMAN syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) 194 PDZ.|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) TGGCTTCTCGCATGTACTTCA 0.488000 3 34 0 0 1 0 0 TEKT4P2 0 broad.mit.edu 37 21 9907241 9907241 + RNA SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr21:9907241C>T ENST00000416067.1 - 0 1551 NR_037872.1|NR_038327.1 AGCACCGTGCCGCTGCTCACT 0.572000 5 18 0 0 1 0 0 ABLIM3 22885 broad.mit.edu 37 5 148632366 148632366 + Missense_Mutation SNP G G A TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr5:148632366G>A ENST00000506113.1 + 22 2386 c.1904G>A c.(1903-1905)cGa>cAa p.R635Q ABLIM3_ENST00000517451.1_Missense_Mutation_p.R121Q|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R635Q|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R524Q|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R540Q|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R524Q|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R602Q|RP11-331K21.1_ENST00000522685.1_RNA O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 635 HP. axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAAGAAACCGACTGCCCAAG 0.488000 28 110 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33643522 33643522 + Silent SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr6:33643522C>T ENST00000374316.5 + 26 4231 c.3171C>T c.(3169-3171)cgC>cgT p.R1057R ITPR3_ENST00000605930.1_Silent_p.R1057R Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 1057 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 TGTTCCTGCGCGTGCTCATCC 0.642000 9 27 0 0 1 0 0 GABRD 2563 broad.mit.edu 37 1 1959653 1959653 + Missense_Mutation SNP G G A TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr1:1959653G>A ENST00000378585.4 + 6 696 c.613G>A c.(613-615)Ggg>Agg p.G205R NM_000815.4 NP_000806.2 O14764 GBRD_HUMAN gamma-aminobutyric acid (GABA) A receptor, delta 205 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) GCACATCCACGGGCTGGACAA 0.607000 9 19 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8862382 8862382 + Silent SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr20:8862382C>T ENST00000338037.6 + 32 3564 c.3537C>T c.(3535-3537)caC>caT p.H1179H PLCB1_ENST00000378641.3_3'UTR NM_015192.2 NP_056007.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 1179 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 ACAGCAATCACGGTTCTGCCC 0.493000 49 140 0 0 1 0 0 PGR 5241 broad.mit.edu 37 11 100998907 100998907 + Missense_Mutation SNP T T C TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr11:100998907T>C ENST00000325455.5 - 1 2348 c.895A>G c.(895-897)Acg>Gcg p.T299A PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.T299A NM_000926.4|NM_001202474.1 NP_000917.3|NP_001189403.1 P06401 PRGR_HUMAN progesterone receptor 299 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) TCCATCACCGTGGTGGCCAGC 0.662000 6 17 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 3 40 0 0 1 0 0 SNX31 169166 broad.mit.edu 37 8 101620772 101620772 + Missense_Mutation SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr8:101620772C>T ENST00000311812.2 - 8 781 c.631G>A c.(631-633)Gac>Aac p.D211N SNX31_ENST00000428383.2_Missense_Mutation_p.D112N NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 211 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) AGCACGGAGTCGAGGGATGGA 0.532000 6 39 0 0 1 0 0 ZDHHC13 54503 broad.mit.edu 37 11 19197407 19197407 + Missense_Mutation SNP G G A TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr11:19197407G>A ENST00000446113.2 + 17 1890 c.1769G>A c.(1768-1770)tGt>tAt p.C590Y ZDHHC13_ENST00000399351.3_Missense_Mutation_p.C460Y NM_019028.2 NP_061901.2 Q8IUH4 ZDH13_HUMAN zinc finger, DHHC-type containing 13 590 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 TTCTTTCAGTGTGGCTGCTTT 0.443000 14 44 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7520913 7520913 + Silent SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr5:7520913C>T ENST00000338316.4 + 3 560 c.471C>T c.(469-471)gaC>gaT p.D157D NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 157 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 cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding p.D157D(1) NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 ACATGCGAGACGCCATCATTG 0.547000 5 62 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21484035 21484035 + Missense_Mutation SNP G G T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr18:21484035G>T ENST00000313654.9 + 50 6698 c.6457G>T c.(6457-6459)Gca>Tca p.A2153S LAMA3_ENST00000269217.6_Missense_Mutation_p.A544S|LAMA3_ENST00000587184.1_Missense_Mutation_p.A488S|LAMA3_ENST00000399516.3_Missense_Mutation_p.A2097S|LAMA3_ENST00000588770.1_3'UTR NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2153 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACAAGAGCTGGCAAAGCAGCT 0.552000 19 69 2.4624e-09 2.58552e-09 1 1 0 SGSM2 9905 broad.mit.edu 37 17 2268242 2268242 + Missense_Mutation SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr17:2268242C>T ENST00000268989.3 + 10 1229 c.1052C>T c.(1051-1053)cCg>cTg p.P351L SGSM2_ENST00000574563.1_Missense_Mutation_p.P351L|SGSM2_ENST00000426855.2_Missense_Mutation_p.P351L NM_014853.2 NP_055668.2 O43147 SGSM2_HUMAN small G protein signaling modulator 2 351 intracellular Rab GTPase activator activity biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) CAGAGGCCGCCGCTGCATTTC 0.647000 8 26 0 0 1 0 0 DKK2 27123 broad.mit.edu 37 4 107845811 107845811 + Silent SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr4:107845811C>T ENST00000285311.3 - 3 1125 c.420G>A c.(418-420)ccG>ccA p.P140P DKK2_ENST00000513208.1_Silent_p.P40P|DKK2_ENST00000510463.1_Silent_p.P94P NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 140 multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) CATCCAGAGCCGGGATGTGAG 0.438000 18 101 0 0 1 0 0 RRM1 6240 broad.mit.edu 37 11 4144500 4144500 + Silent SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr11:4144500C>T ENST00000300738.5 + 12 1410 c.1206C>T c.(1204-1206)acC>acT p.T402T RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000537197.1_Silent_p.T64T|RRM1_ENST00000534285.1_Silent_p.T180T|RRM1_ENST00000423050.2_Silent_p.T305T NM_001033.3 NP_001024.1 P23921 RIR1_HUMAN ribonucleotide reductase M1 402 deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex ATP binding|ribonucleoside-diphosphate reductase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2) 14 Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205) Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005) AAACAGGCACCCCGTATATGC 0.463000 14 71 0 0 1 0 0 GPRASP1 9737 broad.mit.edu 37 X 101911740 101911740 + Missense_Mutation SNP G G T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chrX:101911740G>T ENST00000537097.1 + 6 3712 c.2899G>T c.(2899-2901)Gcc>Tcc p.A967S GPRASP1_ENST00000361600.5_Missense_Mutation_p.A967S|GPRASP1_ENST00000444152.1_Missense_Mutation_p.A967S|GPRASP1_ENST00000415986.1_Missense_Mutation_p.A967S|RP4-769N13.7_ENST00000602441.1_RNA NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 967 Glu-rich.|OPRD1-binding. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TGAGGAAGGGGCCATTGTTGG 0.483000 8 116 1.12685e-05 1.16859e-05 1 1 0 ZNF135 7694 broad.mit.edu 37 19 58578819 58578819 + Missense_Mutation SNP G G A TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr19:58578819G>A ENST00000506786.1 + 5 1395 c.841G>A c.(841-843)Gag>Aag p.E281K ZNF135_ENST00000439855.2_Missense_Mutation_p.E323K|ZNF135_ENST00000401053.4_Missense_Mutation_p.E347K|ZNF135_ENST00000313434.5_Missense_Mutation_p.E323K|ZNF135_ENST00000511556.1_Missense_Mutation_p.E335K|ZNF135_ENST00000359978.6_Missense_Mutation_p.E335K B4DHH9 B4DHH9_HUMAN zinc finger protein 135 335 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.E347K(1)|p.E323K(1) breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) TCACACAGGCGAGAAGCCCTA 0.542000 13 44 0 0 1 0 0 HDX 139324 broad.mit.edu 37 X 83577004 83577004 + Missense_Mutation SNP G G T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chrX:83577004G>T ENST00000297977.5 - 10 2077 c.1966C>A c.(1966-1968)Cct>Act p.P656T HDX_ENST00000506585.2_Missense_Mutation_p.P598T|HDX_ENST00000373177.2_Missense_Mutation_p.P656T NM_001177479.1|NM_144657.4 NP_001170950.1|NP_653258.2 Q7Z353 HDX_HUMAN highly divergent homeobox 656 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 AATTCAGGAGGTAAATCTGAC 0.343000 8 16 0.000274275 0.000280965 1 1 0 CSTF2 1478 broad.mit.edu 37 X 100075434 100075434 + Missense_Mutation SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chrX:100075434C>T ENST00000415585.2 + 1 51 c.29C>T c.(28-30)gCg>gTg p.A10V CSTF2_ENST00000486615.1_3'UTR|CSTF2_ENST00000372972.2_Missense_Mutation_p.A10V P33240 CSTF2_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa 10 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cleavage body|mRNA cleavage and polyadenylation specificity factor complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 13 AGAGACCCAGCGGTGGATCGT 0.567000 11 41 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124392720 124392720 + Silent SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr10:124392720C>T ENST00000368909.3 + 49 6130 c.6024C>T c.(6022-6024)tgC>tgT p.C2008C DMBT1_ENST00000344338.3_Silent_p.C1998C|DMBT1_ENST00000338354.3_Silent_p.C2008C|DMBT1_ENST00000359586.6_Silent_p.C728C|DMBT1_ENST00000368956.2_Silent_p.C1380C|DMBT1_ENST00000368955.3_Silent_p.C1998C|DMBT1_ENST00000330163.4_Silent_p.C1380C NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2008 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) ATTATTCCTGCGGAGGCTTCC 0.478000 15 42 0 0 1 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205308370 205308370 + Missense_Mutation SNP G G A rs140745821 TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr1:205308370G>A ENST00000367156.3 - 7 1525 c.709C>T c.(709-711)Cgg>Tgg p.R237W KLHDC8A_ENST00000537168.1_Missense_Mutation_p.R124W|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.R237W|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.R103W|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.R237W NM_001271863.1 NP_001258792.1 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 237 breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) TTGGGCTGCCGGTAGAGGCGA 0.597000 11 27 0 0 1 0 0 TFAP2B 7021 broad.mit.edu 37 6 50791273 50791273 + Missense_Mutation SNP T T G TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr6:50791273T>G ENST00000263046.4 + 3 428 c.262T>G c.(262-264)Tac>Gac p.Y88D TFAP2B_ENST00000393655.3_Missense_Mutation_p.Y79D|TFAP2B_ENST00000489228.1_3'UTR Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 79 Gln/Pro-rich (transactivation domain). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) GCCGCTCCCCTACCACCAGAG 0.687000 10 37 0 0 1 0 0 SH3TC1 54436 broad.mit.edu 37 4 8229065 8229065 + Silent SNP G G A TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr4:8229065G>A ENST00000539824.1 + 12 1790 c.1416G>A c.(1414-1416)ggG>ggA p.G472G SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000245105.3_Silent_p.G548G Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 548 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 AGGCCCGGGGGGCGGCCAAGA 0.697000 5 23 0 0 1 0 0 MAGEB4 4115 broad.mit.edu 37 X 30261033 30261033 + Missense_Mutation SNP C C A TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chrX:30261033C>A ENST00000378982.2 + 1 977 c.781C>A c.(781-783)Ccc>Acc p.P261T NM_002367.3 NP_002358.1 O15481 MAGB4_HUMAN melanoma antigen family B, 4 261 MAGE. breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 CCAGCAGGTGCCCAACAGTGA 0.493000 9 54 0.0581538 0.0588544 1 1 0 ABCC9 10060 broad.mit.edu 37 12 22005315 22005315 + Missense_Mutation SNP G G A rs140872303 TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr12:22005315G>A ENST00000261200.4 - 21 2629 c.2630C>T c.(2629-2631)aCg>aTg p.T877M ABCC9_ENST00000261201.4_Missense_Mutation_p.T877M|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.T841M NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 877 ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GTCAGCATGCGTCAGATACTG 0.338000 18 101 0 0 1 0 0 PSMD11 5717 broad.mit.edu 37 17 30807620 30807620 + Missense_Mutation SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr17:30807620C>T ENST00000261712.3 + 13 1503 c.1240C>T c.(1240-1242)Ctc>Ttc p.L414F PSMD11_ENST00000457654.2_Missense_Mutation_p.L414F NM_001270482.1|NM_002815.3 NP_001257411.1|NP_002806.2 O00231 PSD11_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 414 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.109) AGTGGATTCCCTCTACAACAA 0.498000 3 41 0 0 1 0 0 F2R 2149 broad.mit.edu 37 5 76028196 76028196 + Missense_Mutation SNP A A G TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr5:76028196A>G ENST00000319211.4 + 2 411 c.146A>G c.(145-147)aAt>aGt p.N49S NM_001992.3 NP_001983.2 P25116 PAR1_HUMAN coagulation factor II (thrombin) receptor 49 activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) AGGAACCCCAATGATAAATAT 0.328000 15 65 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82581401 82581401 + Silent SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr7:82581401C>T ENST00000423517.2 - 5 9205 c.8868G>A c.(8866-8868)caG>caA p.Q2956Q PCLO_ENST00000333891.8_Silent_p.Q2956Q NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2887 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTGCAGGCTGCTGTGCTGTGC 0.448000 20 113 0 0 1 0 0 ATF2 1386 broad.mit.edu 37 2 175979598 175979598 + Splice_Site SNP T T A TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr2:175979598T>A ENST00000264110.2 - 8 746 c.e8-2 ATF2_ENST00000409833.1_Splice_Site|ATF2_ENST00000409437.1_Intron|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000409635.1_Splice_Site|ATF2_ENST00000345739.5_Splice_Site|ATF2_ENST00000426833.3_Splice_Site|ATF2_ENST00000538946.1_Splice_Site|ATF2_ENST00000392544.1_Splice_Site|ATF2_ENST00000487334.2_Splice_Site NM_001256090.1|NM_001256091.1|NM_001880.3 NP_001243019.1|NP_001243020.1|NP_001871.2 P15336 ATF2_HUMAN activating transcription factor 2 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 nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.125) TGGTACTTCCTATTTAACAAT 0.373000 21 69 0 0 1 0 0 MX2 4600 broad.mit.edu 37 21 42774001 42774001 + Nonsense_Mutation SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr21:42774001C>T ENST00000330714.3 + 11 1703 c.1519C>T c.(1519-1521)Cag>Tag p.Q507* MX2_ENST00000496774.1_3'UTR NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 507 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) CATCGTGCATCAGTACATCCA 0.458000 11 59 0 0 1 0 0 PDIA4 9601 broad.mit.edu 37 7 148718147 148718147 + Missense_Mutation SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr7:148718147C>T ENST00000286091.4 - 2 413 c.181G>A c.(181-183)Gaa>Aaa p.E61K NM_004911.4 NP_004902.1 P13667 PDIA4_HUMAN protein disulfide isomerase family A, member 4 61 Thioredoxin 1. cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) ACTCCATTTTCTTCCTTAACT 0.438000 5 28 0 0 1 0 0 CUZD1 50624 broad.mit.edu 37 10 124594347 124594347 + Silent SNP G G A TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr10:124594347G>A ENST00000368904.1 - 9 2206 c.1257C>T c.(1255-1257)aaC>aaT p.N419N CUZD1_ENST00000545804.1_Silent_p.N419N|CUZD1_ENST00000392790.1_Silent_p.N419N Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 419 ZP. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) AAAGAGTTTGGTTCAAATCCA 0.393000 12 12 0 0 1 0 0 NPY5R 4889 broad.mit.edu 37 4 164272199 164272199 + Silent SNP T T A TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr4:164272199T>A ENST00000515560.1 + 4 2296 c.774T>A c.(772-774)acT>acA p.T258T NPY5R_ENST00000506953.1_Silent_p.T258T|NPY5R_ENST00000338566.3_Silent_p.T258T Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 258 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) TCAACTTAACTCTTCATCCAT 0.373000 8 71 0 0 1 0 0 BTNL8 79908 broad.mit.edu 37 5 180376261 180376261 + Missense_Mutation SNP C C T rs145611296 TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr5:180376261C>T ENST00000231229.4 + 7 1222 c.988C>T c.(988-990)Cgc>Tgc p.R330C BTNL8_ENST00000505126.1_Silent_p.H79H|BTNL8_ENST00000533815.2_Silent_p.H102H|BTNL8_ENST00000340184.4_Silent_p.H286H|BTNL8_ENST00000508408.1_Missense_Mutation_p.R323C|BTNL8_ENST00000400707.3_Silent_p.H161H|BTNL8_ENST00000511704.1_Silent_p.H170H NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 481 B30.2/SPRY. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCGGAAACACGCAGGTACCA 0.557000 4 49 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A T rs121913279 TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr3:178952085A>T ENST00000263967.3 + 21 3297 c.3140A>T c.(3139-3141)cAt>cTt p.H1047L NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1387)|p.H1047L(194)|p.H1047P(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378000 H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 4 53 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47311780 47311780 + Silent SNP C C T rs141671072 TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr11:47311780C>T ENST00000342922.4 + 18 3381 c.3024C>T c.(3022-3024)caC>caT p.H1008H MADD_ENST00000407859.3_Silent_p.H985H|MADD_ENST00000406482.1_Silent_p.H965H|MADD_ENST00000402799.1_Silent_p.H965H|MADD_ENST00000395336.3_Silent_p.H1028H|MADD_ENST00000402192.2_Silent_p.H1008H|MADD_ENST00000395344.3_Silent_p.H965H|MADD_ENST00000349238.3_Silent_p.H1028H|MADD_ENST00000311027.5_Silent_p.H1028H NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 1028 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CCTATGCCCACGCGGGTCTGG 0.547000 14 46 0 0 1 0 0 EGFL7 51162 broad.mit.edu 37 9 139563048 139563048 + Silent SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr9:139563048C>T ENST00000371699.1 + 4 1031 c.120C>T c.(118-120)gtC>gtT p.V40V EGFL7_ENST00000308874.7_Silent_p.V40V|EGFL7_ENST00000406555.3_Silent_p.V40V|EGFL7_ENST00000371698.3_Silent_p.V40V|EGFL7_ENST00000492002.1_3'UTR Q9UHF1 EGFL7_HUMAN EGF-like-domain, multiple 7 40 EMI. angiogenesis|vasculogenesis calcium ion binding kidney(2)|ovary(1)|prostate(2)|urinary_tract(1) 6 all_cancers(76;0.109) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) GGGACCCTGTCTCCGAGTCGT 0.677000 26 77 0 0 1 0 0 RBMXL2 27288 broad.mit.edu 37 11 7111074 7111074 + Silent SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr11:7111074C>T ENST00000306904.5 + 1 910 c.723C>T c.(721-723)cgC>cgT p.R241R NM_014469.4 NP_055284.3 O75526 HNRGT_HUMAN RNA binding motif protein, X-linked-like 2 241 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) ACACCCACCGCGATTACGGCC 0.657000 6 29 0 0 1 0 0 LZTR1 8216 broad.mit.edu 37 22 21349017 21349017 + Splice_Site SNP G G A rs145594158 TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr22:21349017G>A ENST00000215739.8 + 15 2144 c.e15+1 LZTR1_ENST00000389355.3_Splice_Site|LZTR1_ENST00000479606.1_Splice_Site NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CCAACTCAAGGTGTGGGGTGG 0.682000 8 17 0 0 1 0 0 FAM161B 145483 broad.mit.edu 37 14 74404345 74404345 + Missense_Mutation SNP C C A TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr14:74404345C>A ENST00000286544.3 - 7 2012 c.1814G>T c.(1813-1815)cGa>cTa p.R605L FAM161B_ENST00000534936.1_Missense_Mutation_p.R542L|RP5-1021I20.5_ENST00000555916.1_RNA NM_152445.2 NP_689658.2 family with sequence similarity 161, member B breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2) 21 TGTTTGTATTCGCTGCTTCAT 0.343000 4 162 0.184627 0.184627 1 1 0 PPP1R15A 23645 broad.mit.edu 37 19 49377238 49377238 + Missense_Mutation SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr19:49377238C>T ENST00000200453.5 + 2 1017 c.748C>T c.(748-750)Ccc>Tcc p.P250S NM_014330.3 NP_055145.3 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 250 Glu-rich. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1) 23 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) CTCCGTGTCCCCCCGATCTTC 0.557000 10 48 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129569084 129569084 + Missense_Mutation SNP T T C TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr12:129569084T>C ENST00000422113.2 - 6 1933 c.1607A>G c.(1606-1608)aAt>aGt p.N536S TMEM132D_ENST00000389441.4_Missense_Mutation_p.N74S NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 536 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CTTGATCTGATTGAGCTCGGT 0.592000 4 14 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109384118 109384118 + Missense_Mutation SNP G G A TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr2:109384118G>A ENST00000283195.6 + 20 7249 c.7123G>A c.(7123-7125)Gac>Aac p.D2375N NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 2375 RanBD1 3. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GATGAGAAGGGACCAAGTATT 0.353000 55 211 0 0 1 0 0 THRB 7068 broad.mit.edu 37 3 24193966 24193966 + Missense_Mutation SNP T T C TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr3:24193966T>C ENST00000396671.2 - 6 647 c.299A>G c.(298-300)tAc>tGc p.Y100C THRB_ENST00000416420.1_Missense_Mutation_p.Y100C|THRB_ENST00000280696.5_Missense_Mutation_p.Y115C|THRB_ENST00000356447.4_Missense_Mutation_p.Y100C NM_001128176.2 NP_001121648.1 P10828 THB_HUMAN thyroid hormone receptor, beta 100 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) CTTGTCTAAGTAACTGGGGAT 0.443000 9 23 0 0 1 0 0 TMEM171 134285 broad.mit.edu 37 5 72419284 72419284 + Silent SNP C C T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr5:72419284C>T ENST00000454765.2 + 2 557 c.84C>T c.(82-84)ttC>ttT p.F28F TMEM171_ENST00000287773.5_Silent_p.F28F Q8WVE6 TM171_HUMAN transmembrane protein 171 28 integral to membrane endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1) 15 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115) TCTTTGTCTTCGGCGCCGTCT 0.577000 5 96 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170038125 170038125 + Nonsense_Mutation SNP G G T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr2:170038125G>T ENST00000263816.3 - 52 10287 c.10002C>A c.(10000-10002)taC>taA p.Y3334* LRP2_ENST00000461418.1_5'UTR NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3334 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CCCAGTAGAGGTACCTGTCAG 0.483000 10 33 2.74318e-10 2.9168e-10 1 1 0 SDHAP1 0 broad.mit.edu 37 3 195701331 195701331 + RNA SNP G G A rs78212497 by1000genomes TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr3:195701331G>A ENST00000427841.1 - 0 1493 NR_003264.2 GTCCAATAGCGAGTTTGCCCC 0.592000 7 105 0 0 1 0 0 DTX4 23220 broad.mit.edu 37 11 58972233 58972233 + Missense_Mutation SNP G G A TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr11:58972233G>A ENST00000227451.3 + 9 1815 c.1711G>A c.(1711-1713)Gtc>Atc p.V571I DTX4_ENST00000532982.1_Missense_Mutation_p.V465I NM_015177.1 NP_055992.1 Q9Y2E6 DTX4_HUMAN deltex homolog 4 (Drosophila) 571 Notch signaling pathway cytoplasm zinc ion binding p.V465I(1) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 20 all_epithelial(135;0.125) GTCAGACACCGTCATCTGGAA 0.532000 5 12 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31388578 31388578 + Silent SNP G G A TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr16:31388578G>A ENST00000268296.4 + 23 2902 c.2781G>A c.(2779-2781)gtG>gtA p.V927V ITGAX_ENST00000562522.1_Silent_p.V927V NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 927 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 TCTACACTGTGGTTAGCAGGT 0.502000 15 76 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116418604 116418605 + Frame_Shift_Ins INS - - T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr12:116418604_116418605insT ENST00000281928.3 - 23 5520_5521 c.5314_5315insA c.(5314-5316)gggfs p.G1772fs NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1772 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) CCCAAATCCCGTGAGGGATTTA 0.450 26 86 --- --- --- --- SNX29P2 0 broad.mit.edu 37 16 29337651 29337652 + RNA INS - - CAGAG rs140530121 by1000genomes TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e273ac4f-af5a-4671-813b-ce86f784fcbe 393cccc0-b27d-4b08-889c-1d74b31f3ce7 g.chr16:29337651_29337652insCAGAG ENST00000398878.3 + 0 724 CCCCGTTCACACCTGTTTCCTC 0.599 4 4 --- --- --- ---