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 LTBP2 4053 broad.mit.edu 37 14 74974742 74974742 + Missense_Mutation SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr14:74974742C>T ENST00000261978.4 - 25 4095 c.3709G>A c.(3709-3711)Gag>Aag p.E1237K LTBP2_ENST00000556690.1_Missense_Mutation_p.E1237K NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 1237 Cys-rich.|EGF-like 13; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) AAGGAGCCCTCGGTGTTGACA 0.612000 12 28 0 0 0.001855 0 0 ZNF91 7644 broad.mit.edu 37 19 23544447 23544447 + Missense_Mutation SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr19:23544447C>A ENST00000300619.7 - 4 1539 c.1334G>T c.(1333-1335)tGg>tTg p.W445L ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.W413L NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 445 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GCTTGAGGACCAGTTAAATGC 0.343000 11 41 0.000151284 0.000161938 0.001855 1 0 ANKRD44 91526 broad.mit.edu 37 2 197943465 197943465 + Missense_Mutation SNP A A G TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr2:197943465A>G ENST00000328737.2 - 16 1613 c.1537T>C c.(1537-1539)Tat>Cat p.Y513H ANKRD44_ENST00000450567.1_Missense_Mutation_p.Y513H|ANKRD44_ENST00000409153.1_Missense_Mutation_p.Y538H|ANKRD44_ENST00000337207.5_Missense_Mutation_p.Y513H|ANKRD44_ENST00000282272.8_Missense_Mutation_p.Y530H|ANKRD44_ENST00000539527.1_Missense_Mutation_p.Y466H Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 538 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) GCGGCAGCATAATGTATGCTA 0.408000 22 31 0 0 0.012319 0 0 PCDH15 65217 broad.mit.edu 37 10 55582689 55582689 + Missense_Mutation SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr10:55582689C>A ENST00000361849.3 - 34 5197 c.4803G>T c.(4801-4803)caG>caT p.Q1601H PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.Q1530H|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.Q1596H|PCDH15_ENST00000320301.6_Missense_Mutation_p.Q1599H|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.Q1576H|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.Q1559H|PCDH15_ENST00000395442.1_Intron NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1599 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) TGCCTTGCCACTGCTGCAGAT 0.448000 HNSCC(58;0.16) 32 86 5.77227e-19 8.65841e-19 0.008361 1 0 AADAT 51166 broad.mit.edu 37 4 170994373 170994373 + Missense_Mutation SNP T T C TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr4:170994373T>C ENST00000337664.4 - 5 844 c.568A>G c.(568-570)Acc>Gcc p.T190A AADAT_ENST00000509167.1_Missense_Mutation_p.T194A|AADAT_ENST00000515480.1_Missense_Mutation_p.T190A|AADAT_ENST00000353187.2_Missense_Mutation_p.T190A NM_016228.3 NP_057312.1 Q8N5Z0 AADAT_HUMAN aminoadipate aminotransferase 190 2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process mitochondrial matrix 2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1) 11 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AATTTGGGGGTGTTTTTCTGG 0.388000 24 72 0 0 0.005443 0 0 ADARB1 104 broad.mit.edu 37 21 46642007 46642007 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr21:46642007G>T ENST00000539173.1 + 12 2556 c.2121G>T c.(2119-2121)gaG>gaT p.E707D ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000360697.3_Missense_Mutation_p.E707D|ADARB1_ENST00000389863.4_Missense_Mutation_p.E707D|ADARB1_ENST00000348831.4_Missense_Mutation_p.E667D NM_015833.3 NP_056648.1 P78563 RED1_HUMAN adenosine deaminase, RNA-specific, B1 707 A to I editase. adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1) 17 Colorectal(79;0.115) CGGCAAAGGAGTACCAGGCCG 0.577000 11 25 3.86212e-05 4.21322e-05 0.008291 1 0 C9orf139 401563 broad.mit.edu 37 9 139929107 139929107 + Silent SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr9:139929107C>A ENST00000314330.2 + 3 1688 c.174C>A c.(172-174)ccC>ccA p.P58P NM_207511.1 NP_997394.1 Q6ZV77 CI139_HUMAN chromosome 9 open reading frame 139 58 cervix(1)|lung(2) 3 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493) AACAGACACCCGGCGGCAGTT 0.662000 42 115 3.61183e-13 4.96082e-13 0.014410 1 0 SPATA8 145946 broad.mit.edu 37 15 97326886 97326886 + Translation_Start_Site SNP A A T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr15:97326886A>T ENST00000328504.3 + 1 268 c.1A>T c.(1-3)Atg>Ttg p.M1L SPATA8_ENST00000558553.1_Intron NM_173499.3 NP_775770.1 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 1 large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) GGCATGAGGAATGGCCCCGGC 0.567000 17 43 0 0 0.002780 0 0 NAP1L3 4675 broad.mit.edu 37 X 92927525 92927525 + Missense_Mutation SNP G G C TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chrX:92927525G>C ENST00000373079.3 - 1 1042 c.779C>G c.(778-780)gCa>gGa p.A260G NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 260 nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 TTTATCATCTGCCTTTACCTG 0.443000 43 33 0 0 0.009718 0 0 PARD3 56288 broad.mit.edu 37 10 34759051 34759051 + Missense_Mutation SNP G G C TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr10:34759051G>C ENST00000374789.3 - 4 869 c.544C>G c.(544-546)Cag>Gag p.Q182E PARD3_ENST00000346874.4_Missense_Mutation_p.Q182E|PARD3_ENST00000374788.3_Missense_Mutation_p.Q182E|PARD3_ENST00000374773.1_Missense_Mutation_p.Q182E|PARD3_ENST00000545260.1_Missense_Mutation_p.Q182E|PARD3_ENST00000350537.4_Missense_Mutation_p.Q182E|PARD3_ENST00000374776.1_Missense_Mutation_p.Q182E|PARD3_ENST00000545693.1_Missense_Mutation_p.Q182E|PARD3_ENST00000374790.3_Missense_Mutation_p.Q182E|PARD3_ENST00000374794.3_Missense_Mutation_p.Q182E|PARD3_ENST00000340077.5_Missense_Mutation_p.Q182E NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 182 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) GCAGTGTTCTGCTTGAGGAAG 0.498000 24 79 0 0 0.002780 0 0 PHKB 5257 broad.mit.edu 37 16 47698808 47698808 + Silent SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr16:47698808C>T ENST00000455779.1 + 26 2513 c.2328C>T c.(2326-2328)cgC>cgT p.R776R PHKB_ENST00000299167.8_Intron|PHKB_ENST00000566044.1_Intron|PHKB_ENST00000323584.5_Silent_p.R783R Q93100 KPBB_HUMAN phosphorylase kinase, beta 783 Calmodulin-binding (Potential). glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) TGGCGGTGCGCTACGGGGCTG 0.423000 4 20 0 0 0.009096 0 0 ZIC3 7547 broad.mit.edu 37 X 136649658 136649658 + Silent SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chrX:136649658C>A ENST00000287538.5 + 1 1358 c.808C>A c.(808-810)Cgg>Agg p.R270R ZIC3_ENST00000370606.3_Silent_p.R270R NM_003413.3 NP_003404.1 O60481 ZIC3_HUMAN Zic family member 3 270 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(192;0.000127) GAGCTGCGACCGGACCTTCAG 0.612000 31 33 2.61193e-14 3.6535e-14 0.009535 1 0 PALLD 23022 broad.mit.edu 37 4 169842725 169842725 + Missense_Mutation SNP A A G TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr4:169842725A>G ENST00000335742.7 + 18 3723 c.2366A>G c.(2365-2367)gAt>gGt p.D789G CBR4_ENST00000509108.1_Intron|PALLD_ENST00000512127.1_Missense_Mutation_p.D565G|PALLD_ENST00000261509.6_Missense_Mutation_p.D947G|PALLD_ENST00000507735.1_Missense_Mutation_p.D460G|PALLD_ENST00000505667.1_Missense_Mutation_p.D964G Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 1171 Interaction with EPS8 (By similarity).|Pro-rich. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) TGGCAACTAGATGGAAAGCCC 0.468000 Pancreatic Cancer, Familial Clustering of 5 19 0 0 0.001168 0 0 CSPG4 1464 broad.mit.edu 37 15 75977633 75977633 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr15:75977633G>T ENST00000308508.5 - 4 4291 c.4199C>A c.(4198-4200)cCa>cAa p.P1400Q NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1400 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (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 ATGCTGGGGTGGCTCCAGCAC 0.672000 12 39 2.27111e-07 2.66914e-07 0.013537 1 0 ZBTB44 29068 broad.mit.edu 37 11 130131094 130131094 + Silent SNP G G C TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr11:130131094G>C ENST00000525842.1 - 2 1042 c.675C>G c.(673-675)tcC>tcG p.S225S ZBTB44_ENST00000357899.4_Silent_p.S225S|ZBTB44_ENST00000530205.1_Silent_p.S225S|ZBTB44_ENST00000397753.1_Silent_p.S225S NM_014155.4 NP_054874.3 Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 225 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235) GAAAAGCTAAGGAAGAGTCAA 0.423000 11 35 0 0 0.008291 0 0 FOLH1 2346 broad.mit.edu 37 11 49168312 49168312 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr11:49168312G>T ENST00000340334.7 - 20 2572 c.2204C>A c.(2203-2205)gCc>gAc p.A735D FOLH1_ENST00000533034.1_Missense_Mutation_p.A704D|FOLH1_ENST00000256999.2_Missense_Mutation_p.A750D|FOLH1_ENST00000343844.4_Missense_Mutation_p.A442D|FOLH1_ENST00000356696.3_Missense_Mutation_p.A719D NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 750 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) ATCCTCTTAGGCTACTTCACT 0.403000 19 47 1.33834e-09 1.66744e-09 0.007413 1 0 ZNF781 163115 broad.mit.edu 37 19 38160967 38160967 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr19:38160967G>T ENST00000358582.4 - 4 831 c.83C>A c.(82-84)gCt>gAt p.A28D ZNF781_ENST00000590008.1_Missense_Mutation_p.A28D|ZFP30_ENST00000586732.1_Intron NM_152605.3 NP_689818.2 Q8N8C0 ZN781_HUMAN zinc finger protein 781 28 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 TTTCTGATTAGCATGACTTAT 0.363000 35 91 5.71845e-15 8.09818e-15 0.005524 1 0 CKAP4 10970 broad.mit.edu 37 12 106633456 106633456 + Silent SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr12:106633456G>A ENST00000378026.4 - 2 1291 c.1155C>T c.(1153-1155)caC>caT p.H385H NM_006825.3 NP_006816.2 Q07065 CKAP4_HUMAN cytoskeleton-associated protein 4 385 ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1) 20 CCTTCGGCCCGTGGGAATCGG 0.617000 20 31 0 0 0.008871 0 0 SVEP1 79987 broad.mit.edu 37 9 113194765 113194765 + Missense_Mutation SNP T T C TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr9:113194765T>C ENST00000401783.2 - 31 5546 c.5210A>G c.(5209-5211)aAc>aGc p.N1737S SVEP1_ENST00000374469.1_Missense_Mutation_p.N1714S NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1737 Sushi 6. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TGAAACGCCGTTCCAGCTCCC 0.443000 32 94 0 0 0.006230 0 0 KDR 3791 broad.mit.edu 37 4 55962434 55962434 + Missense_Mutation SNP T T A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr4:55962434T>A ENST00000263923.4 - 19 2985 c.2690A>T c.(2689-2691)aAt>aTt p.N897I NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 897 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GTTGACCACATTGAGATGGTG 0.453000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 13 32 0 0 0.002450 0 0 IFIT1B 439996 broad.mit.edu 37 10 91143794 91143794 + Missense_Mutation SNP G G C TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr10:91143794G>C ENST00000371809.3 + 2 804 c.724G>C c.(724-726)Gaa>Caa p.E242Q LIPA_ENST00000371837.1_Intron NM_001010987.2 NP_001010987.1 Q5T764 IFT1B_HUMAN interferon-induced protein with tetratricopeptide repeats 1B 242 binding endometrium(2)|large_intestine(3)|lung(8) 13 GTACATTGAAGAAGCTCTGAC 0.418000 49 232 0 0 0.014410 0 0 MYT1 4661 broad.mit.edu 37 20 62839774 62839774 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr20:62839774G>T ENST00000536311.1 + 7 1589 c.1225G>T c.(1225-1227)Ggc>Tgc p.G409C MYT1_ENST00000328439.1_Missense_Mutation_p.G409C|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 409 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GAGCCAGCTGGGCCTGGGAGA 0.662000 17 17 1.02788e-11 1.37051e-11 0.004990 1 0 PCDHGC5 56097 broad.mit.edu 37 5 140870004 140870004 + Silent SNP T T A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr5:140870004T>A ENST00000252087.1 + 1 1197 c.1197T>A c.(1195-1197)ccT>ccA p.P399P PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 399 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGATTAAGCCTTCTGAGAACC 0.532000 43 134 0 0 0.007835 0 0 B3GALTL 145173 broad.mit.edu 37 13 31821177 31821177 + Silent SNP C C G rs9542305 byFrequency TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr13:31821177C>G ENST00000343307.4 + 5 437 c.288C>G c.(286-288)ctC>ctG p.L96L NM_194318.3 NP_919299.3 Q6Y288 B3GLT_HUMAN beta 1,3-galactosyltransferase-like 96 fucose metabolic process endoplasmic reticulum membrane|integral to membrane transferase activity, transferring glycosyl groups breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung SC(185;0.0257) all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184) CCAGTGTCCTCCTCCTTCATC 0.378000 10 33 0 0 0.010729 0 0 LAMA3 3909 broad.mit.edu 37 18 21501494 21501494 + Missense_Mutation SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr18:21501494G>A ENST00000313654.9 + 62 8363 c.8122G>A c.(8122-8124)Gta>Ata p.V2708I LAMA3_ENST00000399516.3_Missense_Mutation_p.V2652I|LAMA3_ENST00000587184.1_Missense_Mutation_p.V1043I|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.V1099I NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2708 Laminin G-like 2. 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 p.V2708L(1)|p.V1099L(1) 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) TGATGGTGAAGTATTTGATTT 0.328000 25 57 0 0 0.007291 0 0 LY6H 4062 broad.mit.edu 37 8 144239832 144239832 + Silent SNP T T C TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr8:144239832T>C ENST00000414417.2 - 5 554 c.321A>G c.(319-321)tcA>tcG p.S107S LY6H_ENST00000430474.2_Silent_p.S86S|LY6H_ENST00000342752.4_Silent_p.S107S NM_001130478.1 NP_001123950.1 O94772 LY6H_HUMAN lymphocyte antigen 6 complex, locus H 86 nervous system development|organ morphogenesis anchored to membrane|plasma membrane endometrium(1)|lung(1)|stomach(2) 4 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TCAGATAGTCTGAGAAAAAGT 0.547000 34 114 0 0 0.004878 0 0 TARBP1 6894 broad.mit.edu 37 1 234529405 234529405 + Silent SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:234529405C>A ENST00000040877.1 - 27 4421 c.4422G>T c.(4420-4422)ccG>ccT p.P1474P TARBP1_ENST00000483404.1_5'UTR NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 1474 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) CTAAATTGGTCGGTTTGTCGA 0.453000 29 74 3.69857e-22 5.69779e-22 0.008361 1 0 CELSR2 1952 broad.mit.edu 37 1 109792762 109792762 + Silent SNP T T C TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:109792762T>C ENST00000271332.3 + 1 122 c.61T>C c.(61-63)Ttg>Ctg p.L21L NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 21 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) gctgctgctgttgctgctgct 0.746000 3 30 0 0 0.004672 0 0 GIMAP8 155038 broad.mit.edu 37 7 150171416 150171416 + Silent SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr7:150171416G>T ENST00000307271.3 + 4 1573 c.999G>T c.(997-999)ctG>ctT p.L333L NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 333 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) TGACACCACTGGGCTTTTACA 0.423000 29 56 5.61819e-17 8.1589e-17 0.005443 1 0 TPST2 8459 broad.mit.edu 37 22 26937184 26937184 + Missense_Mutation SNP T T A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr22:26937184T>A ENST00000338754.4 - 3 683 c.413A>T c.(412-414)cAg>cTg p.Q138L TPST2_ENST00000403880.1_Missense_Mutation_p.Q138L|TPST2_ENST00000398110.2_Missense_Mutation_p.Q138L NM_003595.3 NP_003586.3 O60704 TPST2_HUMAN tyrosylprotein sulfotransferase 2 138 peptidyl-tyrosine sulfation endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity central_nervous_system(1)|large_intestine(1)|lung(5) 7 GATGAAGGCCTGCATGGCGGC 0.657000 18 36 0 0 0.007413 0 0 ZNF91 7644 broad.mit.edu 37 19 23544446 23544446 + Missense_Mutation SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr19:23544446C>A ENST00000300619.7 - 4 1540 c.1335G>T c.(1333-1335)tgG>tgT p.W445C ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.W413C NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 445 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGCTTGAGGACCAGTTAAATG 0.338000 11 41 0.00010058 0.000108171 0.013537 1 0 CYP7B1 9420 broad.mit.edu 37 8 65528462 65528462 + Silent SNP T T G TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr8:65528462T>G ENST00000310193.3 - 3 809 c.636A>C c.(634-636)ctA>ctC p.L212L NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 212 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) AATCATCTCTTAGCTCACTAA 0.289000 17 33 0 0 0.004007 0 0 CLSPN 63967 broad.mit.edu 37 1 36214094 36214094 + Missense_Mutation SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:36214094C>A ENST00000251195.5 - 13 2480 c.2384G>T c.(2383-2385)cGt>cTt p.R795L CLSPN_ENST00000373220.3_Missense_Mutation_p.R731L|CLSPN_ENST00000520551.1_Missense_Mutation_p.R742L|CLSPN_ENST00000318121.3_Missense_Mutation_p.R795L Q9HAW4 CLSPN_HUMAN claspin 795 activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm anaphase-promoting complex binding|DNA binding NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ACTGGTCCCACGGCCTGTTTG 0.488000 29 73 1.75199e-13 2.42092e-13 0.007291 1 0 TSHZ3 57616 broad.mit.edu 37 19 31767716 31767716 + Silent SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr19:31767716G>A ENST00000240587.4 - 2 3310 c.2983C>T c.(2983-2985)Cta>Tta p.L995L NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 995 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TGTGACTCTAGGTGACTGATG 0.468000 18 59 0 0 0.007413 0 0 IGHG1 3500 broad.mit.edu 37 14 106208537 106208537 + RNA SNP C C T rs111358523 TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr14:106208537C>T ENST00000390548.2 - 0 362 GGAAGACTGACGGTCCCCCCA 0.627000 6 141 0 0 0.001168 0 0 DRD2 1813 broad.mit.edu 37 11 113288749 113288749 + Splice_Site SNP C C G TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr11:113288749C>G ENST00000362072.3 - 3 739 c.395_splice c.e3+1 p.R132_splice DRD2_ENST00000355319.2_Splice_Site_p.R132_splice|DRD2_ENST00000542968.1_Splice_Site_p.R132_splice|DRD2_ENST00000346454.3_Splice_Site_p.R132_splice|DRD2_ENST00000538967.1_Splice_Site_p.R132_splice|DRD2_ENST00000544518.1_Splice_Site_p.R131_splice|DRD2_ENST00000535984.1_5'UTR NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 132 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 p.R132K(1) 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) CTGGGCTCACCTGTCGATGCT 0.552000 10 25 0 0 0.006214 0 0 PRSS38 339501 broad.mit.edu 37 1 228033262 228033262 + Missense_Mutation SNP G G C TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:228033262G>C ENST00000366757.3 + 4 699 c.675G>C c.(673-675)atG>atC p.M225I NM_183062.2 NP_898885.1 A1L453 PRS38_HUMAN protease, serine, 38 225 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 CCTACATCATGCCCGACATGC 0.602000 11 41 0 0 0.010729 0 0 PAPOLB 56903 broad.mit.edu 37 7 4900413 4900413 + Missense_Mutation SNP T T A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr7:4900413T>A ENST00000404991.1 - 1 1212 c.1026A>T c.(1024-1026)aaA>aaT p.K342N RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron NM_020144.4 NP_064529.4 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 342 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) CAAGCCCCTGTTTAAACTCCT 0.428000 37 86 0 0 0.003755 0 0 SLC22A9 114571 broad.mit.edu 37 11 63137534 63137534 + Silent SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr11:63137534C>T ENST00000279178.3 + 1 255 c.6C>T c.(4-6)gcC>gcT p.A2A SLC22A9_ENST00000310969.4_Silent_p.A2A NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 2 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CCTCAATGGCCTTTCAGGACC 0.433000 27 81 0 0 0.004656 0 0 LCN9 392399 broad.mit.edu 37 9 138557593 138557593 + Missense_Mutation SNP A A G TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr9:138557593A>G ENST00000277526.3 + 5 470 c.470A>G c.(469-471)aAc>aGc p.N157S LCN9_ENST00000430290.2_3'UTR NM_001001676.1 NP_001001676.1 Q8WX39 LCN9_HUMAN lipocalin 9 157 extracellular region pheromone binding|transporter activity kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1) 6 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05) GACTTGACCAACAAAGGTCAG 0.607000 6 18 0 0 0.001168 0 0 ZNF521 25925 broad.mit.edu 37 18 22806842 22806842 + Missense_Mutation SNP A A G TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr18:22806842A>G ENST00000361524.3 - 4 1188 c.1040T>C c.(1039-1041)gTc>gCc p.V347A ZNF521_ENST00000538137.2_Missense_Mutation_p.V347A|ZNF521_ENST00000584787.1_Missense_Mutation_p.V127A NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 347 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GCCCACCGTGACCAGGGAAGG 0.537000 T PAX5 ALL 17 57 0 0 0.004007 0 0 TRPS1 7227 broad.mit.edu 37 8 116616327 116616327 + Silent SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr8:116616327C>T ENST00000395715.3 - 4 2446 c.1869G>A c.(1867-1869)tcG>tcA p.S623S TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000220888.5_Silent_p.S610S|TRPS1_ENST00000520276.1_Silent_p.S614S|TRPS1_ENST00000519674.1_Silent_p.S610S NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 610 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GTTTGACTCGCGAGCTTCCAG 0.478000 Langer-Giedion syndrome 16 82 0 0 0.004007 0 0 MYO7A 4647 broad.mit.edu 37 11 76872035 76872035 + Missense_Mutation SNP T T A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr11:76872035T>A ENST00000409709.3 + 12 1489 c.1217T>A c.(1216-1218)cTg>cAg p.L406Q MYO7A_ENST00000409893.1_Missense_Mutation_p.L406Q|MYO7A_ENST00000409619.2_Missense_Mutation_p.L395Q|MYO7A_ENST00000458637.2_Missense_Mutation_p.L406Q NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 406 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TACGGGCGGCTGTTCGTGTGG 0.602000 4 9 0 0 0.009096 0 0 P2RY8 286530 broad.mit.edu 37 X 1585309 1585309 + Missense_Mutation SNP A A G TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chrX:1585309A>G ENST00000381297.4 - 2 353 c.143T>C c.(142-144)cTg>cCg p.L48P NM_178129.4 NP_835230.1 Q86VZ1 P2RY8_HUMAN purinergic receptor P2Y, G-protein coupled, 8 48 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCGCCGGCACAGCACCCACAG 0.642000 T CRLF2 """B-ALL, Downs associated ALL""" 27 34 0 0 0.005443 0 0 TP53 7157 broad.mit.edu 37 17 7578461 7578461 + Missense_Mutation SNP C C A rs121912654 TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr17:7578461C>A ENST00000420246.2 - 5 601 c.469G>T c.(469-471)Gtc>Ttc p.V157F TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 157 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (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.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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) ATGGCGCGGACGCGGGTGCCG 0.617000 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) 19 26 4.35082e-09 5.30474e-09 0.010504 1 0 ZFPM2 23414 broad.mit.edu 37 8 106573688 106573688 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr8:106573688G>T ENST00000407775.2 + 4 649 c.399G>T c.(397-399)atG>atT p.M133I ZFPM2_ENST00000520492.1_Start_Codon_SNP_p.M1I|ZFPM2_ENST00000517361.1_Start_Codon_SNP_p.M1I NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 133 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CTGGGAAGATGGACTTGAATA 0.433000 7 37 2.0095e-06 2.29083e-06 0.001984 1 0 OR2AK2 391191 broad.mit.edu 37 1 248128813 248128813 + Silent SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:248128813G>T ENST00000366480.3 + 1 279 c.180G>T c.(178-180)ctG>ctT p.L60L OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ATATCATGCTGATCCACCTCA 0.458000 54 126 1.87854e-15 2.67692e-15 0.014410 1 0 CCT8L2 150160 broad.mit.edu 37 22 17072917 17072917 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr22:17072917G>T ENST00000359963.3 - 1 783 c.524C>A c.(523-525)tCc>tAc p.S175Y NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 175 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) GTCCATGGGGGACAGGGTGTG 0.612000 24 52 3.01185e-09 3.69194e-09 0.003954 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43822569 43822569 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr12:43822569G>T ENST00000389420.3 - 25 3522 c.3523C>A c.(3523-3525)Cgc>Agc p.R1175S ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R1175S|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R293S NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1175 TSP type-1 7. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CTTACATAGCGGGCTTGAGTA 0.433000 20 52 1.90627e-21 2.89753e-21 0.012319 1 0 LAD1 3898 broad.mit.edu 37 1 201354831 201354831 + Missense_Mutation SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:201354831G>A ENST00000391967.2 - 4 1430 c.1129C>T c.(1129-1131)Cgg>Tgg p.R377W LAD1_ENST00000367313.3_Missense_Mutation_p.R391W NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 377 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 GCTCTCACCCGAAAGGAGATG 0.587000 OREG0014078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 47 134 0 0 0.014410 0 0 KRTAP27-1 643812 broad.mit.edu 37 21 31709544 31709544 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr21:31709544G>T ENST00000382835.2 - 1 468 c.443C>A c.(442-444)tCt>tAt p.S148Y NM_001077711.1 NP_001071179.1 Q3LI81 KR271_HUMAN keratin associated protein 27-1 148 intermediate filament endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 GAAATTTTTAGACTTAGAAGT 0.488000 49 153 1.56793e-16 2.24835e-16 0.014410 1 0 ST5 6764 broad.mit.edu 37 11 8752646 8752646 + Missense_Mutation SNP C C A rs141444386 TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr11:8752646C>A ENST00000534127.1 - 6 576 c.191G>T c.(190-192)cGg>cTg p.R64L ST5_ENST00000357665.1_Missense_Mutation_p.R64L|ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R64L|ST5_ENST00000526757.1_Intron NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 64 Pro-rich. positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) GAGGAGCACCCGGGAGCTGGA 0.617000 18 35 2.4624e-09 3.03474e-09 0.008871 1 0 POLI 11201 broad.mit.edu 37 18 51813701 51813701 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr18:51813701G>T ENST00000579534.1 + 8 1261 c.1118G>T c.(1117-1119)cGg>cTg p.R373L POLI_ENST00000217800.5_Missense_Mutation_p.R247L|POLI_ENST00000406285.3_Missense_Mutation_p.R294L|POLI_ENST00000579434.1_Missense_Mutation_p.R270L|POLI_ENST00000582366.1_3'UTR NM_007195.2 NP_009126.2 Q9UNA4 POLI_HUMAN polymerase (DNA directed) iota 373 DNA binding. DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) ATAATCCGTCGGTATTCCTCT 0.388000 DNA polymerases (catalytic subunits) 4 10 0.00909568 0.00934151 0.009096 1 0 KCNN3 3782 broad.mit.edu 37 1 154842157 154842157 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:154842157G>T ENST00000271915.3 - 1 599 c.284C>A c.(283-285)cCc>cAc p.P95H NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 100 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) AGGGTGGACGGGCTGGCTCTG 0.677000 8 11 0.000157383 0.000166899 0.003080 1 0 NLRP1 22861 broad.mit.edu 37 17 5405149 5405149 + Silent SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr17:5405149G>A ENST00000262467.5 - 16 4686 c.4113C>T c.(4111-4113)gaC>gaT p.D1371D NM_001033053.2 NP_001028225.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 0 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) ATCTCCTGGCGTCTCTGTTGC 0.552000 29 28 0 0 0.008361 0 0 INA 9118 broad.mit.edu 37 10 105037114 105037114 + Missense_Mutation SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr10:105037114C>T ENST00000369849.4 + 1 195 c.146C>T c.(145-147)gCc>gTc p.A49V NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 49 Head. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) AGCAATGTGGCCTCCTCGGCC 0.771000 13 14 0 0 0.013537 0 0 LIX1L 128077 broad.mit.edu 37 1 145498663 145498663 + Missense_Mutation SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:145498663G>A ENST00000369308.3 + 6 973 c.899G>A c.(898-900)cGg>cAg p.R300Q RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA NM_153713.1 NP_714924.1 Q8IVB5 LIX1L_HUMAN Lix1 homolog (mouse)-like 300 large_intestine(4)|lung(6)|ovary(2)|skin(1) 13 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TCTACTGAGCGGGAGCTGGAT 0.582000 17 36 0 0 0.006122 0 0 FIGNL1 63979 broad.mit.edu 37 7 50513887 50513887 + Nonsense_Mutation SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr7:50513887C>A ENST00000419119.1 - 2 2652 c.1099G>T c.(1099-1101)Gaa>Taa p.E367* FIGNL1_ENST00000395556.2_Nonsense_Mutation_p.E367*|FIGNL1_ENST00000356889.4_Nonsense_Mutation_p.E367*|FIGNL1_ENST00000433017.1_Nonsense_Mutation_p.E367* Q6PIW4 FIGL1_HUMAN fidgetin-like 1 367 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 29 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) TGTGCTGGTTCTGTAGGTCCT 0.453000 51 114 1.86633e-21 2.85587e-21 0.014410 1 0 PLCG2 5336 broad.mit.edu 37 16 81902818 81902818 + Splice_Site SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr16:81902818G>T ENST00000359376.3 + 6 693 c.e6-1 PLCG2_ENST00000565400.1_Splice_Site NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 CTCTTTTGCAGCATCAGTCTC 0.478000 56 193 3.7469e-33 6.19053e-33 0.014410 1 0 FCN2 2220 broad.mit.edu 37 9 137779022 137779022 + Missense_Mutation SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr9:137779022C>A ENST00000350339.2 + 7 603 c.589C>A c.(589-591)Ctg>Atg p.L197M FCN2_ENST00000291744.6_Missense_Mutation_p.L235M NM_015837.2 NP_056652.1 Q15485 FCN2_HUMAN ficolin (collagen/fibrinogen domain containing lectin) 2 235 Fibrinogen C-terminal. complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 20 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) AGGAGATTCCCTGACGTTCCA 0.478000 31 97 8.16721e-17 1.17856e-16 0.010818 1 0 TSIX 9383 broad.mit.edu 37 X 73046729 73046729 + RNA SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chrX:73046729C>A ENST00000604411.1 + 0 34690 XIST_ENST00000429829.1_lincRNA NR_003255.2 GTGTCCTGTCCCAGGTCTTAA 0.502000 37 18 9.04072e-19 1.3385e-18 0.003271 1 0 ATP2B3 492 broad.mit.edu 37 X 152807814 152807814 + Missense_Mutation SNP A A T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chrX:152807814A>T ENST00000370186.1 + 5 1024 c.698A>T c.(697-699)cAg>cTg p.Q233L ATP2B3_ENST00000393842.1_Missense_Mutation_p.Q233L|ATP2B3_ENST00000370181.2_Missense_Mutation_p.Q233L|ATP2B3_ENST00000263519.4_Missense_Mutation_p.Q233L|ATP2B3_ENST00000359149.3_Missense_Mutation_p.Q233L|ATP2B3_ENST00000349466.2_Missense_Mutation_p.Q233L Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 233 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GTGCTCATCCAGGCCAATGAC 0.657000 27 17 0 0 0.005443 0 0 HAPLN1 1404 broad.mit.edu 37 5 82940257 82940257 + Missense_Mutation SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr5:82940257C>T ENST00000274341.4 - 4 1550 c.700G>A c.(700-702)Gga>Aga p.G234R NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 234 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) TTCCTGACTCCGGGCACTGTG 0.483000 26 75 0 0 0.003954 0 0 OR6C1 390321 broad.mit.edu 37 12 55715320 55715320 + Nonstop_Mutation SNP T T A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr12:55715320T>A ENST00000379668.2 + 1 975 c.937T>A c.(937-939)Tga>Aga p.*313R NM_001005182.1 NP_001005182.1 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, member 1 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 CACAAGCACATGAAATGGTAT 0.403000 24 37 0 0 0.014323 0 0 MARCH4 57574 broad.mit.edu 37 2 217234842 217234842 + Missense_Mutation SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr2:217234842C>T ENST00000273067.4 - 1 1908 c.142G>A c.(142-144)Gac>Aac p.D48N NM_020814.2 NP_065865.1 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase 48 Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) ACCTTCAGGTCATTGAAGAGC 0.652000 8 9 0 0 0.004482 0 0 SLC1A3 6507 broad.mit.edu 37 5 36680558 36680558 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr5:36680558G>T ENST00000265113.4 + 8 1632 c.1156G>T c.(1156-1158)Gtc>Ttc p.V386F SLC1A3_ENST00000381918.3_Missense_Mutation_p.V386F|CTD-2353F22.1_ENST00000510740.1_RNA NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 386 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) GGACAAGCGCGTCACCAGATT 0.512000 11 41 5.16669e-11 6.77014e-11 0.010729 1 0 MFAP3L 9848 broad.mit.edu 37 4 170912985 170912985 + Missense_Mutation SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr4:170912985C>T ENST00000361618.3 - 3 1081 c.774G>A c.(772-774)atG>atA p.M258I RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.M155I NM_021647.6 NP_067679.6 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like 258 integral to membrane|plasma membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) CAACCACCTCCATAATCTCCT 0.557000 21 74 0 0 0.008871 0 0 GDAP1 54332 broad.mit.edu 37 8 75276523 75276523 + Missense_Mutation SNP G G C TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr8:75276523G>C ENST00000220822.7 + 6 1078 c.998G>C c.(997-999)gGa>gCa p.G333A GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Missense_Mutation_p.G265A NM_001040875.2|NM_018972.2 NP_001035808.1|NP_061845.2 Q8TB36 GDAP1_HUMAN ganglioside induced differentiation associated protein 1 333 cytoplasm endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Breast(64;0.00769) Myeloproliferative disorder(644;0.0122) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234) GCAGGAGTGGGATATTTTGCT 0.458000 19 79 0 0 0.007413 0 0 DNAH3 55567 broad.mit.edu 37 16 20975684 20975684 + Silent SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr16:20975684G>A ENST00000261383.3 - 53 9521 c.9522C>T c.(9520-9522)acC>acT p.T3174T DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3174 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCCTCAAACGGGTTGTGATGT 0.453000 27 108 0 0 0.005443 0 0 TMCC1 23023 broad.mit.edu 37 3 129546826 129546826 + Missense_Mutation SNP C C G TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr3:129546826C>G ENST00000393238.3 - 3 736 c.396G>C c.(394-396)aaG>aaC p.K132N TMCC1_ENST00000426664.2_Missense_Mutation_p.K18N NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 132 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GGGGACTTCCCTTTGGGGCCT 0.552000 34 73 0 0 0.003271 0 0 MST1R 4486 broad.mit.edu 37 3 49940901 49940901 + Missense_Mutation SNP T T C TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr3:49940901T>C ENST00000296474.3 - 1 169 c.142A>G c.(142-144)Agc>Ggc p.S48G CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.S48G NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 48 Sema. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) GCGGAGAAGCTGGGCACCACG 0.642000 11 109 0 0 0.008291 0 0 OR51S1 119692 broad.mit.edu 37 11 4870013 4870013 + Silent SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr11:4870013C>A ENST00000322101.2 - 1 501 c.426G>T c.(424-426)gcG>gcT p.A142A MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGTGAGGAGCGCTGGGTAGT 0.532000 29 103 4.87955e-14 6.78377e-14 0.005443 1 0 CACNA1C 775 broad.mit.edu 37 12 2694555 2694555 + Nonsense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr12:2694555G>T ENST00000399655.1 + 17 2618 c.2353G>T c.(2353-2355)Gag>Tag p.E785* CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000347598.4_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000480911.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.E810*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.E785* NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 785 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TGCCAGCCCAGAGAAGAAACA 0.542000 6 10 3.59834e-05 3.94433e-05 0.001168 1 0 SNHG14 104472715 broad.mit.edu 37 15 25436498 25436498 + RNA SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr15:25436498G>T ENST00000424208.1 + 0 1092 SNHG14_ENST00000414175.1_RNA NR_003305.1 CTGAGCTGCGGTGAGCCTATC 0.607000 45 130 1.62957e-23 2.54481e-23 0.008740 1 0 CPA1 1357 broad.mit.edu 37 7 130021575 130021575 + Silent SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr7:130021575C>T ENST00000011292.3 + 3 402 c.252C>T c.(250-252)atC>atT p.I84I CPA1_ENST00000484324.1_5'UTR NM_001868.2 NP_001859.1 P15085 CBPA1_HUMAN carboxypeptidase A1 (pancreatic) 84 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) CCCACGGCATCAGCTATGAGA 0.637000 OREG0018314 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 59 0 0 0.010504 0 0 FAM171A1 221061 broad.mit.edu 37 10 15256525 15256525 + Missense_Mutation SNP G G C TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr10:15256525G>C ENST00000378116.4 - 8 1068 c.1062C>G c.(1060-1062)gaC>gaG p.D354E FAM171A1_ENST00000477161.1_5'UTR NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 354 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 ACGTGGACTGGTCTCTTTTGG 0.577000 15 58 0 0 0.002450 0 0 POT1 25913 broad.mit.edu 37 7 124503423 124503423 + Missense_Mutation SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr7:124503423C>A ENST00000357628.3 - 8 1125 c.527G>T c.(526-528)gGa>gTa p.G176V POT1_ENST00000393329.1_Missense_Mutation_p.G45V NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 176 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 AAATGATGCTCCGTCCACTTC 0.383000 15 64 1.3612e-06 1.56745e-06 0.003163 1 0 TTN 7273 broad.mit.edu 37 2 179605555 179605555 + Missense_Mutation SNP A A T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr2:179605555A>T ENST00000589042.1 - 48 12629 c.12405T>A c.(12403-12405)aaT>aaA p.N4135K TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N3772K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.N3964K|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N3897K|TTN_ENST00000591111.1_Missense_Mutation_p.N3818K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3818 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) GAATACTGCCATTGATGCAAA 0.453000 44 131 0 0 0.014410 0 0 ABCA10 10349 broad.mit.edu 37 17 67215886 67215886 + Nonsense_Mutation SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr17:67215886C>A ENST00000423818.2 - 5 634 c.226G>T c.(226-228)Gga>Tga p.G76* ABCA10_ENST00000432313.2_Missense_Mutation_p.E110D|ABCA10_ENST00000269081.4_Missense_Mutation_p.E110D|ABCA10_ENST00000416101.2_Missense_Mutation_p.E110D Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 0 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) ATGTCAACTCCTCCATTACAG 0.279000 16 59 4.7546e-09 5.76622e-09 0.004007 1 0 IGKV2-30 28919 broad.mit.edu 37 2 89544374 89544374 + RNA SNP G G C TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr2:89544374G>C ENST00000468494.1 - 0 279 AATCTGTCTGGGACCCCAGAG 0.498000 59 169 0 0 0.014410 0 0 PCDHA9 9752 broad.mit.edu 37 5 140230238 140230238 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr5:140230238G>T ENST00000378122.3 + 1 2882 c.2158G>T c.(2158-2160)Gtg>Ttg p.V720L PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.V720L|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGTACACTGTGCTGCGGTG 0.647000 54 98 2.01807e-28 3.28657e-28 0.014410 1 0 UCMA 221044 broad.mit.edu 37 10 13275788 13275788 + Missense_Mutation SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr10:13275788C>T ENST00000378681.3 - 2 143 c.71G>A c.(70-72)gGa>gAa p.G24E UCMA_ENST00000463405.2_Intron NM_145314.1 NP_660357.2 Q8WVF2 UCMA_HUMAN upper zone of growth plate and cartilage matrix associated 24 proteinaceous extracellular matrix breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 9 TACACTGGTTCCCTCTCTCAG 0.622000 25 63 0 0 0.002780 0 0 SF1 7536 broad.mit.edu 37 11 64535613 64535613 + Missense_Mutation SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr11:64535613G>A ENST00000377390.3 - 9 1370 c.1033C>T c.(1033-1035)Cgt>Tgt p.R345C SF1_ENST00000433274.2_Missense_Mutation_p.R319C|SF1_ENST00000377387.1_Missense_Mutation_p.R470C|SF1_ENST00000377394.3_Missense_Mutation_p.R345C|SF1_ENST00000334944.5_Missense_Mutation_p.R345C|SF1_ENST00000227503.9_Missense_Mutation_p.R345C|SF1_ENST00000422298.2_Missense_Mutation_p.R230C NM_004630.3 NP_004621.2 Q15637 SF01_HUMAN splicing factor 1 345 Pro-rich. nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 GCAGCAGGACGAGGTGCGCTG 0.622000 OREG0004010|OREG0021062 type=REGULATORY REGION|Gene=LOC476031|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 46 0 0 0.010729 0 0 SPRY1 10252 broad.mit.edu 37 4 124323066 124323066 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr4:124323066G>T ENST00000394339.2 + 2 660 c.320G>T c.(319-321)aGg>aTg p.R107M SPRY1_ENST00000339241.1_Missense_Mutation_p.R107M NM_001258039.1|NM_005841.2 NP_001244968.1|NP_005832.1 O43609 SPY1_HUMAN sprouty homolog 1, antagonist of FGF signaling (Drosophila) 107 epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytosol|lamellipodium|plasma membrane NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3) 11 AGTAATGCCAGGGGCCCCATT 0.493000 18 59 3.41278e-10 4.32286e-10 0.004990 1 0 DCDC1 341019 broad.mit.edu 37 11 30915840 30915840 + Silent SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr11:30915840C>T ENST00000597505.1 - 33 4847 c.4848G>A c.(4846-4848)caG>caA p.Q1616Q DCDC1_ENST00000406071.2_Silent_p.Q354Q P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CCTGTTGAGTCTGTTCGGTCC 0.483000 18 38 0 0 0.007413 0 0 NEB 4703 broad.mit.edu 37 2 152472617 152472617 + Missense_Mutation SNP A A T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr2:152472617A>T ENST00000427231.2 - 76 11390 c.11188T>A c.(11188-11190)Tat>Aat p.Y3730N NEB_ENST00000409198.1_Missense_Mutation_p.Y3487N|NEB_ENST00000603639.1_Missense_Mutation_p.Y3730N|NEB_ENST00000604864.1_Missense_Mutation_p.Y3730N|NEB_ENST00000172853.10_Missense_Mutation_p.Y3487N|NEB_ENST00000397345.3_Missense_Mutation_p.Y3730N NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 3730 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GCAAGTTTATAGAGTTTCTGT 0.373000 4 15 0 0 0.009096 0 0 PMP2 5375 broad.mit.edu 37 8 82357106 82357106 + Silent SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr8:82357106G>A ENST00000256103.2 - 2 328 c.192C>T c.(190-192)tcC>tcT p.S64S RP11-157I4.4_ENST00000524085.2_RNA|PMP2_ENST00000519260.1_Intron NM_002677.3 NP_002668.1 P02689 MYP2_HUMAN peripheral myelin protein 2 64 cytoplasm cholesterol binding|fatty acid binding|transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Epithelial(68;0.186) CTAGCTTGAAGGAGATTTCTG 0.393000 14 54 0 0 0.004007 0 0 SEMA6D 80031 broad.mit.edu 37 15 48063880 48063880 + Silent SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr15:48063880G>T ENST00000316364.5 + 19 3559 c.3120G>T c.(3118-3120)acG>acT p.T1040T SEMA6D_ENST00000558014.1_Silent_p.T978T|SEMA6D_ENST00000389433.2_Silent_p.T1021T|SEMA6D_ENST00000389428.3_Silent_p.T965T|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000358066.4_Silent_p.T978T|SEMA6D_ENST00000354744.4_Silent_p.T984T|SEMA6D_ENST00000389432.2_Silent_p.T997T|SEMA6D_ENST00000536845.2_Silent_p.T1040T|SEMA6D_ENST00000537942.1_Silent_p.T978T NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 1040 axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity p.T1040T(1)|p.T978T(1) biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TTCCTAGGACGGGACTAAAGA 0.502000 66 184 9.40535e-28 1.52086e-27 0.014410 1 0 ARHGAP10 79658 broad.mit.edu 37 4 148744059 148744059 + Missense_Mutation SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr4:148744059G>A ENST00000336498.3 + 3 502 c.263G>A c.(262-264)cGt>cAt p.R88H NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 88 BAR. apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) GCTTCCTTACGTGAATTTTCA 0.353000 13 42 0 0 0.001855 0 0 MEFV 4210 broad.mit.edu 37 16 3306345 3306345 + Silent SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr16:3306345C>A ENST00000219596.1 - 1 282 c.243G>T c.(241-243)ctG>ctT p.L81L MEFV_ENST00000339854.4_Silent_p.L81L|MEFV_ENST00000536379.1_Silent_p.L81L|MEFV_ENST00000541159.1_Silent_p.L81L NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 81 DAPIN. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CCTCGGCCAGCAGGCGCTGGT 0.647000 27 45 4.59853e-10 5.79262e-10 0.005443 1 0 SENP1 29843 broad.mit.edu 37 12 48490160 48490160 + Silent SNP T T A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr12:48490160T>A ENST00000339976.6 - 4 664 c.282A>T c.(280-282)acA>acT p.T94T SENP1_ENST00000448372.1_Silent_p.T62T|SENP1_ENST00000549518.1_Silent_p.T62T|SENP1_ENST00000551330.1_Silent_p.T62T|SENP1_ENST00000549595.1_Silent_p.T62T|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000004980.5_Silent_p.T62T Q9P0U3 SENP1_HUMAN SUMO1/sentrin specific peptidase 1 62 Ser-rich. activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus endopeptidase activity|SUMO-specific protease activity large_intestine(3)|lung(1)|pancreas(2)|stomach(1) 7 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) CTGCACTTCTTGTGGAACATG 0.338000 10 13 0 0 0.008291 0 0 SNRNP200 23020 broad.mit.edu 37 2 96957582 96957582 + Silent SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr2:96957582C>A ENST00000323853.5 - 17 2294 c.2217G>T c.(2215-2217)cgG>cgT p.R739R SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 739 Helicase C-terminal 1. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 GGCACATGTCCCGGATGGCCC 0.552000 16 42 2.32078e-09 2.87575e-09 0.003163 1 0 KLHL23 151230 broad.mit.edu 37 2 170591661 170591661 + Missense_Mutation SNP T T G TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr2:170591661T>G ENST00000392647.2 + 2 381 c.137T>G c.(136-138)aTa>aGa p.I46R KLHL23_ENST00000272797.4_Missense_Mutation_p.I46R|KLHL23_ENST00000602521.1_Intron NM_144711.5 NP_653312.2 Q8NBE8 KLH23_HUMAN kelch-like family member 23 46 BTB. breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 16 CCTTCAGGCATAATTTTCCAT 0.338000 13 66 0 0 0.013537 0 0 VAC14 55697 broad.mit.edu 37 16 70726775 70726775 + Missense_Mutation SNP A A C TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr16:70726775A>C ENST00000261776.5 - 18 2395 c.2135T>G c.(2134-2136)cTg>cGg p.L712R VAC14_ENST00000536184.2_Missense_Mutation_p.L144R NM_018052.3 NP_060522.3 Q08AM6 VAC14_HUMAN Vac14 homolog (S. cerevisiae) 712 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) GTGCGAGAGCAGCTGGAAGGC 0.672000 11 26 0 0 0.008291 0 0 TAF1L 138474 broad.mit.edu 37 9 32635536 32635536 + Silent SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr9:32635536G>A ENST00000242310.4 - 1 131 c.42C>T c.(40-42)acC>acT p.T14T RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 14 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CGGCAGTGACGGTAGCTGCTG 0.537000 20 82 0 0 0.010504 0 0 MSANTD3-TMEFF1 100526694 broad.mit.edu 37 9 103310116 103310116 + Nonsense_Mutation SNP A A T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr9:103310116A>T ENST00000502978.1 + 6 541 c.541A>T c.(541-543)Aga>Tga p.R181* TMEFF1_ENST00000374879.4_Silent_p.R217R|TMEFF1_ENST00000334943.6_Silent_p.R178R NM_001198812.1 NP_001185741.1 Q8IYR6 TEFF1_HUMAN 0 multicellular organismal development integral to membrane|plasma membrane GTTTTGTTCGAGAAGCATCTT 0.348000 24 59 0 0 0.003954 0 0 RLBP1 6017 broad.mit.edu 37 15 89758424 89758424 + Missense_Mutation SNP A A T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr15:89758424A>T ENST00000268125.5 - 6 831 c.392T>A c.(391-393)cTg>cAg p.L131Q NM_000326.4 NP_000317.1 P12271 RLBP1_HUMAN retinaldehyde binding protein 1 131 response to stimulus|visual perception|vitamin A metabolic process cytoplasm|soluble fraction retinol binding|transporter activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1) 18 Lung NSC(78;0.0472)|all_lung(78;0.089) Vitamin A(DB00162) CTCTGGGGACAGGCTGTCAAA 0.577000 22 83 0 0 0.012319 0 0 TNFRSF18 8784 broad.mit.edu 37 1 1139576 1139576 + Missense_Mutation SNP T T C TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:1139576T>C ENST00000379268.2 - 4 558 c.439A>G c.(439-441)Aag>Gag p.K147E TNFRSF18_ENST00000328596.6_Intron|TNFRSF18_ENST00000486728.1_Missense_Mutation_p.K75E|TNFRSF18_ENST00000379265.5_Missense_Mutation_p.K147E NM_004195.2|NM_148902.1 NP_004186.1|NP_683700.1 Q9Y5U5 TNR18_HUMAN tumor necrosis factor receptor superfamily, member 18 147 anti-apoptosis|apoptosis extracellular region|integral to plasma membrane tumor necrosis factor receptor activity lung(1) 1 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TTGTGGGTCTTGTTCCCAGGG 0.677000 4 19 0 0 0.009096 0 0 GLRA3 8001 broad.mit.edu 37 4 175598431 175598431 + Missense_Mutation SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr4:175598431C>T ENST00000274093.3 - 7 1227 c.725G>A c.(724-726)tGt>tAt p.C242Y GLRA3_ENST00000340217.5_Missense_Mutation_p.C242Y NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 242 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) CACTTCTATACACGTAAACTT 0.368000 7 30 0 0 0.001984 0 0 KCNV2 169522 broad.mit.edu 37 9 2717964 2717964 + Missense_Mutation SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr9:2717964C>A ENST00000382082.3 + 1 463 c.225C>A c.(223-225)gaC>gaA p.D75E NM_133497.3 NP_598004.1 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 75 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) CAGAAGAGGACCAGCAGGCAG 0.637000 19 51 1.56452e-12 2.11072e-12 0.007413 1 0 EPHB6 2051 broad.mit.edu 37 7 142562013 142562013 + Nonsense_Mutation SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr7:142562013G>A ENST00000392957.2 + 7 1242 c.455G>A c.(454-456)tGg>tAg p.W152* EPHB6_ENST00000442129.1_Nonsense_Mutation_p.W152*|EPHB6_ENST00000411471.2_Intron NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 152 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CTCAAACGCTGGACCAAGGTG 0.632000 6 141 0 0 0.001168 0 0 COL4A4 1286 broad.mit.edu 37 2 227915774 227915774 + Silent SNP T T C TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr2:227915774T>C ENST00000396625.3 - 33 3276 c.3069A>G c.(3067-3069)ccA>ccG p.P1023P COL4A4_ENST00000329662.7_Silent_p.P1023P NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1023 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CAGGAGGCCCTGGCTGACCTT 0.572000 39 117 0 0 0.004878 0 0 HMCN1 83872 broad.mit.edu 37 1 186099122 186099122 + Missense_Mutation SNP A A G TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:186099122A>G ENST00000271588.4 + 84 13158 c.12929A>G c.(12928-12930)cAc>cGc p.H4310R HMCN1_ENST00000367492.2_Missense_Mutation_p.H4310R NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4310 Ig-like C2-type 42. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GTGAATGGACACAGTGAACTT 0.428000 16 52 0 0 0.003163 0 0 HGSNAT 138050 broad.mit.edu 37 8 43046619 43046619 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr8:43046619G>T ENST00000458501.2 + 12 1215 c.1215G>T c.(1213-1215)gaG>gaT p.E405D HGSNAT_ENST00000521576.1_Missense_Mutation_p.E94D|HGSNAT_ENST00000379644.4_Missense_Mutation_p.E377D|HGSNAT_ENST00000297798.7_Missense_Mutation_p.E109D Q68CP4 HGNAT_HUMAN heparan-alpha-glucosaminide N-acetyltransferase 405 lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity cervix(1)|endometrium(2)|large_intestine(4)|lung(6) 13 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) CCACTCAGGAGAGGAGCTGCC 0.517000 80 216 6.8793e-45 1.14488e-44 0.014410 1 0 PCLO 27445 broad.mit.edu 37 7 82583161 82583161 + Nonsense_Mutation SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr7:82583161C>A ENST00000423517.2 - 5 7445 c.7108G>T c.(7108-7110)Gaa>Taa p.E2370* PCLO_ENST00000333891.8_Nonsense_Mutation_p.E2370* NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2301 Pro-rich. 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 GCAGGTTTTTCCTGACCAAAG 0.438000 14 26 7.93312e-07 9.22832e-07 0.002450 1 0 ANKK1 255239 broad.mit.edu 37 11 113270666 113270666 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr11:113270666G>T ENST00000303941.3 + 8 2069 c.1975G>T c.(1975-1977)Ggc>Tgc p.G659C NM_178510.1 NP_848605.1 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 659 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) AGAGCAGTCAGGCTGGACACC 0.627000 22 60 7.41877e-09 8.90334e-09 0.012319 1 0 AUP1 550 broad.mit.edu 37 2 74754375 74754375 + Splice_Site SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr2:74754375C>A ENST00000377526.3 - 10 1386 c.1077_splice c.e10+1 p.K359_splice NM_181575.3 NP_853553.1 Q9Y679 AUP1_HUMAN ancient ubiquitous protein 1 425 endoplasmic reticulum membrane|integral to membrane|nucleus protein binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 11 TGGGTCTCACCTTGGAGGCAG 0.517000 8 23 0.000157383 0.000166899 0.003080 1 0 SNHG14 104472715 broad.mit.edu 37 15 25436497 25436497 + RNA SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr15:25436497G>A ENST00000424208.1 + 0 1092 SNHG14_ENST00000414175.1_RNA NR_003305.1 ACTGAGCTGCGGTGAGCCTAT 0.607000 44 132 0 0 0.007835 0 0 SEMA3D 223117 broad.mit.edu 37 7 84628977 84628977 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr7:84628977G>T ENST00000284136.6 - 17 2156 c.2113C>A c.(2113-2115)Cta>Ata p.L705I SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 705 cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 TCAGCCAATAGATCCTTGACC 0.473000 17 81 2.35188e-11 3.11761e-11 0.006122 1 0 ZYX 7791 broad.mit.edu 37 7 143079777 143079777 + Splice_Site SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr7:143079777G>T ENST00000322764.5 + 4 845 c.501_splice c.e4+1 p.R167_splice ZYX_ENST00000449423.2_Intron|ZYX_ENST00000477373.1_Intron|ZYX_ENST00000392910.2_Splice_Site_p.R10_splice NM_001010972.1|NM_003461.4 NP_001010972.1|NP_003452.1 Q15942 ZYX_HUMAN zyxin 167 cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber protein binding|zinc ion binding breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1) 17 Melanoma(164;0.205) TTCAAAGCCCGGGTAAGGGAC 0.532000 53 121 5.57489e-27 8.95124e-27 0.014410 1 0 TARBP1 6894 broad.mit.edu 37 1 234584270 234584270 + Missense_Mutation SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:234584270C>A ENST00000040877.1 - 11 1916 c.1917G>T c.(1915-1917)atG>atT p.M639I NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 639 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) CCAGCAAGACCATCAGAGAAA 0.363000 8 31 2.74318e-10 3.57397e-10 0.006214 1 0 CAMSAP2 23271 broad.mit.edu 37 1 200816775 200816775 + Silent SNP T T C TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:200816775T>C ENST00000358823.2 + 10 1470 c.1200T>C c.(1198-1200)atT>atC p.I400I CAMSAP2_ENST00000236925.4_Silent_p.I411I|CAMSAP2_ENST00000413307.2_Silent_p.I384I NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 411 cytoplasm|microtubule protein binding AAGGAGGAATTAGAAGGTCTT 0.308000 7 70 0 0 0.003080 0 0 SLC22A10 387775 broad.mit.edu 37 11 63064845 63064845 + Missense_Mutation SNP G G T rs113851643 TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr11:63064845G>T ENST00000544661.1 + 4 540 c.112G>T c.(112-114)Gct>Tct p.A38S SLC22A10_ENST00000332793.6_Missense_Mutation_p.A193S|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000526800.1_Intron Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 193 integral to membrane transmembrane transporter activity p.A193S(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CGCTGCCTTCGCTCCCACCTT 0.428000 29 60 7.41945e-09 8.90334e-09 0.005443 1 0 ADAMTS2 9509 broad.mit.edu 37 5 178559242 178559242 + Missense_Mutation SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr5:178559242C>T ENST00000251582.7 - 15 2380 c.2279G>A c.(2278-2280)aGc>aAc p.S760N NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 760 Spacer. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CAGATGGTGGCTGGTGGCGTC 0.547000 18 40 0 0 0.007413 0 0 KCNA2 3737 broad.mit.edu 37 1 111146525 111146525 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:111146525G>T ENST00000485317.1 - 3 1553 c.880C>A c.(880-882)Cgt>Agt p.R294S KCNA2_ENST00000369770.3_Missense_Mutation_p.R294S|KCNA2_ENST00000316361.4_Missense_Mutation_p.R294S|KCNA2_ENST00000440270.1_Missense_Mutation_p.R294S P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 2 294 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity p.R294C(2) endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) CGGATGACACGGAGGATGGCC 0.537000 30 96 3.99451e-17 5.83813e-17 0.009535 1 0 OLFM2 93145 broad.mit.edu 37 19 9967504 9967504 + Missense_Mutation SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr19:9967504C>T ENST00000264833.4 - 5 851 c.666G>A c.(664-666)atG>atA p.M222I OLFM2_ENST00000590841.1_Missense_Mutation_p.M144I NM_058164.2 NP_477512.1 O95897 NOE2_HUMAN olfactomedin 2 222 Olfactomedin-like. extracellular region breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 31 CACTGGGGGCCATCGTGTCAG 0.662000 10 23 0 0 0.010729 0 0 HYOU1 10525 broad.mit.edu 37 11 118926514 118926514 + Missense_Mutation SNP T T C TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr11:118926514T>C ENST00000404233.3 - 3 257 c.133A>G c.(133-135)Atg>Gtg p.M45V HYOU1_ENST00000525859.1_Missense_Mutation_p.M45V|HYOU1_ENST00000543287.1_Intron|HYOU1_ENST00000529972.1_Missense_Mutation_p.M45V NM_001130991.1|NM_006389.3 NP_001124463.1|NP_006380.1 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 45 endoplasmic reticulum lumen ATP binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2) 33 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) GCCACCTTCATGGACTCACTG 0.552000 32 91 0 0 0.003271 0 0 XIRP2 129446 broad.mit.edu 37 2 168115451 168115451 + Missense_Mutation SNP C C G TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr2:168115451C>G ENST00000409728.1 + 11 2583 c.2494C>G c.(2494-2496)Cca>Gca p.P832A XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.P577A|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.P799A|XIRP2_ENST00000409756.2_Missense_Mutation_p.P799A|XIRP2_ENST00000420519.1_Missense_Mutation_p.P832A NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 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 TGCTCCAAAACCAAGCCTCAG 0.443000 6 18 0 0 0.001984 0 0 FAT3 120114 broad.mit.edu 37 11 92577839 92577839 + Missense_Mutation SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr11:92577839C>A ENST00000298047.6 + 18 11323 c.11306C>A c.(11305-11307)aCg>aAg p.T3769K FAT3_ENST00000533797.1_Missense_Mutation_p.T104K|FAT3_ENST00000409404.2_Missense_Mutation_p.T3769K|FAT3_ENST00000525166.1_Missense_Mutation_p.T3619K Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3769 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACCTACAGCACGGCTCGCATC 0.532000 TCGA Ovarian(4;0.039) 3 11 0.004672 0.00484189 0.004672 1 0 COL21A1 81578 broad.mit.edu 37 6 55924902 55924902 + Missense_Mutation SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr6:55924902G>A ENST00000244728.5 - 28 2919 c.2522C>T c.(2521-2523)cCc>cTc p.P841L COL21A1_ENST00000370819.1_Missense_Mutation_p.P838L|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Missense_Mutation_p.P841L|COL21A1_ENST00000370808.2_Missense_Mutation_p.P207L NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 841 Collagen-like 6. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TAATCCTCTGGGACCCTCTGG 0.512000 22 32 0 0 0.012319 0 0 DNAJB4 11080 broad.mit.edu 37 1 78479167 78479167 + Missense_Mutation SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:78479167C>T ENST00000370763.5 + 2 901 c.644C>T c.(643-645)aCt>aTt p.T215I GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR NM_007034.3 NP_008965.2 Q9UDY4 DNJB4_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 4 215 protein folding|response to heat|response to unfolded protein cytoplasm|plasma membrane heat shock protein binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 ACCAAAATTACTTTTCCAAGA 0.353000 22 51 0 0 0.002780 0 0 ITPR1 3708 broad.mit.edu 37 3 4725426 4725426 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr3:4725426G>T ENST00000302640.8 + 27 3747 c.3397G>T c.(3397-3399)Ggc>Tgc p.G1133C ITPR1_ENST00000456211.2_Missense_Mutation_p.G1124C|ITPR1_ENST00000443694.2_Missense_Mutation_p.G1133C|ITPR1_ENST00000354582.6_Missense_Mutation_p.G1148C|ITPR1_ENST00000423119.2_Missense_Mutation_p.G1139C|ITPR1_ENST00000357086.4_Missense_Mutation_p.G1139C|ITPR1_ENST00000544951.1_Intron NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 1148 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) CAAAGGGCAGGGCCCCGATGA 0.468000 17 56 3.41278e-10 4.32286e-10 0.004990 1 0 P2RY8 286530 broad.mit.edu 37 X 1585308 1585308 + Silent SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chrX:1585308C>A ENST00000381297.4 - 2 354 c.144G>T c.(142-144)ctG>ctT p.L48L NM_178129.4 NP_835230.1 Q86VZ1 P2RY8_HUMAN purinergic receptor P2Y, G-protein coupled, 8 48 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGCGCCGGCACAGCACCCACA 0.637000 T CRLF2 """B-ALL, Downs associated ALL""" 27 33 1.17739e-12 1.60746e-12 0.005443 1 0 OR11H6 122748 broad.mit.edu 37 14 20692792 20692792 + Silent SNP T T C TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr14:20692792T>C ENST00000315519.2 + 1 1002 c.924T>C c.(922-924)taT>taC p.Y308Y NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) CCCTTATCTATAGTCTTCGAA 0.413000 31 69 0 0 0.007291 0 0 TFAP2D 83741 broad.mit.edu 37 6 50712888 50712888 + Nonsense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr6:50712888G>T ENST00000008391.3 + 6 1180 c.952G>T c.(952-954)Gga>Tga p.G318* TFAP2D_ENST00000492804.1_3'UTR NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 318 H-S-H (helix-span-helix), dimerization. DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) CAAAGCAGTAGGAGAACATCT 0.463000 16 45 3.41278e-10 4.32286e-10 0.004990 1 0 BCAS1 8537 broad.mit.edu 37 20 52574006 52574006 + Missense_Mutation SNP A A G TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr20:52574006A>G ENST00000395961.3 - 10 1547 c.1381T>C c.(1381-1383)Tca>Cca p.S461P BCAS1_ENST00000371440.3_Intron|BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000434986.2_Intron NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 461 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) ATTTCTTCTGAGTGGGTGATC 0.443000 21 30 0 0 0.012319 0 0 ZNF142 7701 broad.mit.edu 37 2 219513463 219513463 + Missense_Mutation SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr2:219513463G>A ENST00000411696.2 - 5 1947 c.1168C>T c.(1168-1170)Cat>Tat p.H390Y ZNF142_ENST00000449707.1_Missense_Mutation_p.H390Y P52746 ZN142_HUMAN zinc finger protein 142 390 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TTGCCTACATGATCCTGGTAA 0.537000 OREG0015202 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 36 0 0 0.002450 0 0 ROBO2 6092 broad.mit.edu 37 3 77571938 77571938 + Silent SNP A A G TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr3:77571938A>G ENST00000461745.1 + 6 1719 c.819A>G c.(817-819)aaA>aaG p.K273K ROBO2_ENST00000487694.3_Silent_p.K289K|ROBO2_ENST00000332191.8_Silent_p.K273K NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 273 Ig-like C2-type 3. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) ATGACATCAAAGACGATTACA 0.328000 19 67 0 0 0.008871 0 0 BSN 8927 broad.mit.edu 37 3 49694806 49694806 + Missense_Mutation SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr3:49694806G>A ENST00000296452.4 + 5 7931 c.7817G>A c.(7816-7818)cGg>cAg p.R2606Q NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2606 Poly-Arg. synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CGGGCACGGCGGAGTGCTGAC 0.652000 9 36 0 0 0.008291 0 0 NUP210L 91181 broad.mit.edu 37 1 154098919 154098919 + Missense_Mutation SNP G G C TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:154098919G>C ENST00000368559.3 - 10 1277 c.1206C>G c.(1204-1206)gaC>gaG p.D402E NUP210L_ENST00000271854.3_Missense_Mutation_p.D402E NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 402 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CCTTAGGAAAGTCGTATGTAA 0.388000 26 53 0 0 0.006320 0 0 NFAM1 150372 broad.mit.edu 37 22 42807592 42807592 + Missense_Mutation SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr22:42807592C>T ENST00000329021.5 - 2 309 c.272G>A c.(271-273)aGg>aAg p.R91K NM_145912.5 NP_666017.1 Q8NET5 NFAM1_HUMAN NFAT activating protein with ITAM motif 1 91 Ig-like V-type. B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity integral to membrane|intracellular|plasma membrane transmembrane receptor activity large_intestine(1)|lung(3) 4 CTTAGGGCTCCTCTGTCCCTG 0.542000 19 62 0 0 0.008871 0 0 CLCN1 1180 broad.mit.edu 37 7 143020446 143020446 + Missense_Mutation SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr7:143020446C>A ENST00000343257.2 + 6 828 c.741C>A c.(739-741)agC>agA p.S247R CLCN1_ENST00000495612.1_Intron NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 247 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CTGTCCTCAGCAAATTCATGT 0.602000 20 63 1.2644e-06 1.46337e-06 0.010504 1 0 PCDHB16 57717 broad.mit.edu 37 5 140562501 140562501 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr5:140562501G>T ENST00000361016.2 + 1 1522 c.367G>T c.(367-369)Gtg>Ttg p.V123L NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 123 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGAACTGAGGGTGATAGATAT 0.413000 25 37 7.92952e-12 1.06349e-11 0.003954 1 0 B4GALNT2 124872 broad.mit.edu 37 17 47241448 47241448 + Splice_Site SNP A A G TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr17:47241448A>G ENST00000300404.2 + 8 1005 c.e8-1 B4GALNT2_ENST00000393354.2_Splice_Site|B4GALNT2_ENST00000504681.1_Splice_Site NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) TTTTCTGCCCAGAGAGGAAGC 0.498000 34 101 0 0 0.003271 0 0 IGKV3D-20 28874 broad.mit.edu 37 2 90078188 90078188 + RNA SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr2:90078188G>T ENST00000390270.2 + 0 322 CATCCAGCAGGGCCACTGGCA 0.567000 23 71 1.10923e-09 1.38959e-09 0.002780 1 0 ZNF831 128611 broad.mit.edu 37 20 57766579 57766579 + Nonsense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr20:57766579G>T ENST00000371030.2 + 1 505 c.505G>T c.(505-507)Gag>Tag p.E169* NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 169 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CCACACGGGTGAGAGGCCCTT 0.612000 48 85 8.72198e-27 1.39064e-26 0.014410 1 0 FBXO38 81545 broad.mit.edu 37 5 147795497 147795497 + Missense_Mutation SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr5:147795497C>T ENST00000340253.5 + 11 1439 c.1271C>T c.(1270-1272)tCa>tTa p.S424L FBXO38_ENST00000513826.1_Missense_Mutation_p.S424L|FBXO38_ENST00000394370.3_Missense_Mutation_p.S424L|FBXO38_ENST00000296701.6_Missense_Mutation_p.S424L Q6PIJ6 FBX38_HUMAN F-box protein 38 424 cytoplasm|nucleus ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAGACCACTCAAGATGGACT 0.383000 18 43 0 0 0.007413 0 0 RYR2 6262 broad.mit.edu 37 1 237965171 237965171 + Silent SNP T T C TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:237965171T>C ENST00000366574.2 + 98 14423 c.14106T>C c.(14104-14106)gaT>gaC p.D4702D RYR2_ENST00000360064.6_Silent_p.D4708D|RYR2_ENST00000542537.1_Silent_p.D4686D NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4702 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) ACTCCATTGATGTGAAGTATC 0.393000 13 20 0 0 0.003163 0 0 SMG5 23381 broad.mit.edu 37 1 156228861 156228861 + Missense_Mutation SNP A A T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:156228861A>T ENST00000361813.5 - 16 2521 c.2377T>A c.(2377-2379)Ttc>Atc p.F793I SMG5_ENST00000368267.4_Intron NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 793 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) ATGCTGACGAAGATGCCAACC 0.607000 15 50 0 0 0.002450 0 0 OR1L3 26735 broad.mit.edu 37 9 125437962 125437962 + Missense_Mutation SNP T T A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr9:125437962T>A ENST00000304820.2 + 1 648 c.554T>A c.(553-555)cTg>cAg p.L185Q NM_001005234.1 NP_001005234.1 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, member 3 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 AACCCTGTGCTGAAACTGTCC 0.443000 48 143 0 0 0.014410 0 0 CKAP5 9793 broad.mit.edu 37 11 46792440 46792440 + Missense_Mutation SNP T T G TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr11:46792440T>G ENST00000529230.1 - 25 3130 c.3084A>C c.(3082-3084)gaA>gaC p.E1028D CKAP5_ENST00000415402.1_Missense_Mutation_p.E1028D|CKAP5_ENST00000312055.5_Missense_Mutation_p.E1028D|CKAP5_ENST00000354558.3_Missense_Mutation_p.E1028D Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 1028 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 CATTTCGATCTTCTAGGCAGG 0.468000 38 86 0 0 0.006999 0 0 ZNF536 9745 broad.mit.edu 37 19 31048065 31048065 + Splice_Site SNP T T A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr19:31048065T>A ENST00000355537.3 + 5 4044 c.3895_splice c.e5-1 p.G1299_splice NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TTCTTGCAGGTAAGTGACACT 0.458000 47 127 0 0 0.014410 0 0 INADL 10207 broad.mit.edu 37 1 62231976 62231976 + Nonsense_Mutation SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:62231976C>A ENST00000371158.2 + 4 329 c.215C>A c.(214-216)tCa>tAa p.S72* INADL_ENST00000316485.6_Nonsense_Mutation_p.S72* NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 72 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 TCAGATTGTTCAGCCAACTTT 0.338000 10 57 1.58986e-06 1.82155e-06 0.008291 1 0 NRXN3 9369 broad.mit.edu 37 14 80130221 80130221 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr14:80130221G>T ENST00000281127.7 + 3 1409 c.530G>T c.(529-531)cGc>cTc p.R177L NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000557594.1_Missense_Mutation_p.R177L|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000428277.2_Missense_Mutation_p.R177L|NRXN3_ENST00000554719.1_Missense_Mutation_p.R809L|NRXN3_ENST00000335750.5_Missense_Mutation_p.R809L NM_138970.3 NP_620426.2 Q9HDB5 NRX3B_HUMAN neurexin 3 177 Laminin G-like. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CATGTGGTACGCTTCACCAGG 0.493000 15 61 1.52009e-12 2.06298e-12 0.003163 1 0 SPAG5 10615 broad.mit.edu 37 17 26918733 26918733 + Missense_Mutation SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr17:26918733C>T ENST00000321765.5 - 4 1752 c.1420G>A c.(1420-1422)Gac>Aac p.D474N NM_006461.3 NP_006452.3 Q96R06 SPAG5_HUMAN sperm associated antigen 5 474 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) TGAGATGTGTCAGTCTGTGTG 0.552000 12 121 0 0 0.001855 0 0 INHBB 3625 broad.mit.edu 37 2 121104187 121104187 + Silent SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr2:121104187C>T ENST00000295228.3 + 1 469 c.423C>T c.(421-423)tcC>tcT p.S141S NM_002193.2 NP_002184.2 P09529 INHBB_HUMAN inhibin, beta B 141 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2) 15 Prostate(154;0.122) AGCGCGTTTCCGAAATCATCA 0.726000 6 8 0 0 0.001984 0 0 XIRP2 129446 broad.mit.edu 37 2 167760015 167760015 + Missense_Mutation SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr2:167760015C>A ENST00000409195.1 + 2 112 c.23C>A c.(22-24)tCc>tAc p.S8Y XIRP2_ENST00000295237.9_Missense_Mutation_p.S8Y|XIRP2_ENST00000420519.1_Missense_Mutation_p.S8Y|XIRP2_ENST00000409728.1_Missense_Mutation_p.S8Y|XIRP2_ENST00000409756.2_Missense_Mutation_p.S8Y|XIRP2_ENST00000409043.1_Missense_Mutation_p.S8Y NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 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 CAGAAGGGCTCCCTCAACCTC 0.468000 17 50 0.00074312 0.000784405 0.006122 1 0 C5orf56 441108 broad.mit.edu 37 5 131796387 131796387 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr5:131796387G>T ENST00000337752.2 + 4 353 c.222G>T c.(220-222)tgG>tgT p.W74C C5orf56_ENST00000378953.4_Intron|C5orf56_ENST00000407797.1_Intron Q8N8D9 CE056_HUMAN chromosome 5 open reading frame 56 74 breast(1)|endometrium(1)|large_intestine(1)|lung(3) 6 caagattctggaaagaaatgt 0.493000 52 109 3.31993e-32 5.44563e-32 0.014410 1 0 DCAF11 80344 broad.mit.edu 37 14 24586552 24586552 + Nonsense_Mutation SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr14:24586552G>A ENST00000396936.1 + 3 582 c.126G>A c.(124-126)tgG>tgA p.W42* DCAF11_ENST00000559115.1_Missense_Mutation_p.G121R|DCAF11_ENST00000560171.1_Intron|DCAF11_ENST00000396941.4_Missense_Mutation_p.G95R|DCAF11_ENST00000446197.3_Missense_Mutation_p.G121R Q8TEB1 DCA11_HUMAN DDB1 and CUL4 associated factor 11 148 CUL4 RING ubiquitin ligase complex protein binding AGGGCAGCTGGGGCTTAGGCG 0.592000 15 46 0 0 0.003163 0 0 CPB1 1360 broad.mit.edu 37 3 148577614 148577614 + Missense_Mutation SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr3:148577614G>A ENST00000491148.1 + 12 1413 c.1079G>A c.(1078-1080)gGg>gAg p.G360E RP11-680B3.2_ENST00000488190.1_RNA|CPB1_ENST00000282957.4_Missense_Mutation_p.G360E|CPB1_ENST00000498639.1_3'UTR P15086 CBPB1_HUMAN carboxypeptidase B1 (tissue) 360 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) CCTGCTGCTGGGGGCTCTGAC 0.408000 20 50 0 0 0.010504 0 0 PWP2 5822 broad.mit.edu 37 21 45544509 45544509 + Silent SNP G G A rs145034831 byFrequency TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr21:45544509G>A ENST00000291576.7 + 15 1993 c.1866G>A c.(1864-1866)gcG>gcA p.A622A NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 622 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) GCATCCTGGCGGGAGGCATGT 0.587000 21 60 0 0 0.014323 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232649900 232649900 + Missense_Mutation SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:232649900C>T ENST00000366630.1 - 2 1544 c.1186G>A c.(1186-1188)Gat>Aat p.D396N SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D396N Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 396 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TCACCCTCATCGGCATCCAGG 0.547000 62 147 0 0 0.014410 0 0 CDON 50937 broad.mit.edu 37 11 125871721 125871721 + Missense_Mutation SNP G G T rs145983470 byFrequency TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr11:125871721G>T ENST00000392693.3 - 11 2178 c.2051C>A c.(2050-2052)aCc>aAc p.T684N CDON_ENST00000263577.7_Missense_Mutation_p.T684N|CDON_ENST00000531738.1_Missense_Mutation_p.T61N NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 684 cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding p.T684I(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) GGATGCCTGGGTGTTTTTTGA 0.393000 18 29 3.52763e-06 3.98168e-06 0.004990 1 0 KGFLP2 654466 broad.mit.edu 37 9 41962620 41962620 + RNA SNP G G A rs137865170 by1000genomes TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr9:41962620G>A ENST00000454645.1 - 0 884 NR_003670.1 TCCTCTTACAGGAATCCCCTT 0.363000 4 46 0 0 0.001168 0 0 TIMD4 91937 broad.mit.edu 37 5 156375476 156375476 + Silent SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr5:156375476G>A ENST00000274532.2 - 5 851 c.795C>T c.(793-795)caC>caT p.H265H TIMD4_ENST00000407087.3_Intron NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 265 Ser-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACATTGACACGTGGGATGTTG 0.378000 9 37 0 0 0.010729 0 0 AP3S1 1176 broad.mit.edu 37 5 115202398 115202398 + Missense_Mutation SNP A A T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr5:115202398A>T ENST00000316788.7 + 2 658 c.101A>T c.(100-102)gAg>gTg p.E34V NM_001284.2 NP_001275.1 Q92572 AP3S1_HUMAN adaptor-related protein complex 3, sigma 1 subunit 34 insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle protein binding|protein transporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1) 12 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05) ATCATCAGGGAGACTTTCCAT 0.303000 27 34 0 0 0.012213 0 0 CYFIP2 26999 broad.mit.edu 37 5 156766100 156766100 + Silent SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr5:156766100G>T ENST00000347377.6 + 22 2852 c.2421G>T c.(2419-2421)acG>acT p.T807T CYFIP2_ENST00000442283.2_Silent_p.T92T|CYFIP2_ENST00000435847.2_Silent_p.T506T|CYFIP2_ENST00000522463.1_Silent_p.T611T|CYFIP2_ENST00000521420.1_Silent_p.T781T|CYFIP2_ENST00000541131.1_Silent_p.T732T|CYFIP2_ENST00000377576.3_Silent_p.T807T|CYFIP2_ENST00000318218.6_Silent_p.T832T NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 832 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACCGGCTCACGCATCGGCTGC 0.537000 8 36 5.18039e-06 5.76161e-06 0.003080 1 0 DOCK2 1794 broad.mit.edu 37 5 169502961 169502961 + Missense_Mutation SNP T T C TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr5:169502961T>C ENST00000256935.8 + 47 4819 c.4739T>C c.(4738-4740)tTg>tCg p.L1580S DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.L1072S|DOCK2_ENST00000540750.1_Missense_Mutation_p.L641S NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1580 DHR-2. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATCCCCTTCTTGGGAGCTGGG 0.527000 78 139 0 0 0.014410 0 0 LIPI 149998 broad.mit.edu 37 21 15537574 15537574 + Missense_Mutation SNP A A T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr21:15537574A>T ENST00000344577.2 - 6 959 c.934T>A c.(934-936)Tgt>Agt p.C312S LIPI_ENST00000536861.1_Missense_Mutation_p.C291S NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 291 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TCCTTAAAACAGTCACAGTCC 0.313000 10 25 0 0 0.010729 0 0 SALL1 6299 broad.mit.edu 37 16 51175661 51175661 + Missense_Mutation SNP T T C rs139646526 byFrequency TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr16:51175661T>C ENST00000440970.1 - 2 612 c.181A>G c.(181-183)Agc>Ggc p.S61G SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S158G|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 158 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ccgccgctgctgctgctgctg 0.632000 4 79 0 0 0.000602 0 0 FN1 2335 broad.mit.edu 37 2 216247049 216247049 + Splice_Site SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr2:216247049C>T ENST00000354785.4 - 32 5420 c.e32-1 FN1_ENST00000356005.4_Splice_Site|FN1_ENST00000345488.5_Splice_Site|FN1_ENST00000346544.3_Splice_Site|FN1_ENST00000336916.4_Splice_Site|FN1_ENST00000446046.1_Splice_Site|FN1_ENST00000443816.1_Splice_Site|FN1_ENST00000490833.1_Splice_Site|FN1_ENST00000432072.2_Splice_Site|FN1_ENST00000421182.1_Splice_Site|FN1_ENST00000359671.1_Splice_Site|FN1_ENST00000357867.4_Splice_Site|FN1_ENST00000323926.6_Splice_Site|FN1_ENST00000357009.2_Splice_Site P02751 FINC_HUMAN fibronectin 1 acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTGTTTGATCTGCAAAGGGA 0.453000 11 36 0 0 0.008291 0 0 LRP4 4038 broad.mit.edu 37 11 46907942 46907942 + Silent SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr11:46907942G>A ENST00000378623.1 - 17 2600 c.2358C>T c.(2356-2358)caC>caT p.H786H NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 786 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) TCCAGTACACGTGGTCATCCC 0.582000 6 30 0 0 0.001168 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634687 70634687 + Silent SNP A A G TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr14:70634687A>G ENST00000381269.2 - 2 1206 c.453T>C c.(451-453)tcT>tcC p.S151S SLC8A3_ENST00000356921.2_Silent_p.S151S|SLC8A3_ENST00000528359.1_Silent_p.S151S|SLC8A3_ENST00000534137.1_Silent_p.S151S|SLC8A3_ENST00000357887.3_Silent_p.S151S NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 151 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CCTCAATTAAAGAGAGGAGTA 0.488000 16 68 0 0 0.004007 0 0 PSIP1 11168 broad.mit.edu 37 9 15506585 15506585 + Silent SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr9:15506585G>A ENST00000380733.4 - 3 466 c.123C>T c.(121-123)ccC>ccT p.P41P PSIP1_ENST00000380738.4_Silent_p.P41P|PSIP1_ENST00000380715.1_Silent_p.P41P|PSIP1_ENST00000380716.4_Silent_p.P41P|PSIP1_ENST00000397519.2_Silent_p.P41P|PSIP1_ENST00000484265.1_5'UTR O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 41 PWWP. initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1) 9 GBM - Glioblastoma multiforme(50;2.38e-06) AAAAGAAAATGGGTAGTTTGT 0.348000 11 51 0 0 0.010729 0 0 OR8U1 219417 broad.mit.edu 37 11 56143253 56143253 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr11:56143253G>T ENST00000302270.1 + 1 154 c.154G>T c.(154-156)Gat>Tat p.D52Y NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) CATTAGAGCGGATACAAGTCT 0.418000 33 151 7.11191e-15 1.00094e-14 0.013726 1 0 SPEG 10290 broad.mit.edu 37 2 220346372 220346372 + Silent SNP A A T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr2:220346372A>T ENST00000312358.7 + 28 5667 c.5535A>T c.(5533-5535)gcA>gcT p.A1845A SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1845 Protein kinase 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GACCTACCGCAGAAGAGACCC 0.448000 7 37 0 0 0.003080 0 0 USP13 8975 broad.mit.edu 37 3 179437822 179437822 + Splice_Site SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr3:179437822G>T ENST00000263966.3 + 7 1371 c.900_splice c.e7+1 p.G300_splice USP13_ENST00000496897.1_Splice_Site_p.G235_splice|USP13_ENST00000482333.1_3'UTR NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) 300 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) ATATGCATGGGGTGAGGTCTC 0.418000 12 36 5.50884e-06 6.09716e-06 0.013537 1 0 KLHL3 26249 broad.mit.edu 37 5 136974696 136974696 + Missense_Mutation SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr5:136974696C>A ENST00000508657.1 - 10 1783 c.1069G>T c.(1069-1071)Gca>Tca p.A357S KLHL3_ENST00000309755.4_Missense_Mutation_p.A389S|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000541417.1_Intron|KLHL3_ENST00000506491.1_Missense_Mutation_p.A307S NM_001257194.1 NP_001244123.1 Q9UH77 KLHL3_HUMAN kelch-like family member 3 389 cytoplasm|cytoskeleton actin binding|structural molecule activity breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1) 21 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) AGCACCGCTGCGCCCAGTGTG 0.592000 12 20 2.27111e-07 2.66914e-07 0.013537 1 0 CHTOP 26097 broad.mit.edu 37 1 153615780 153615780 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:153615780G>T ENST00000368694.3 + 5 793 c.481G>T c.(481-483)Ggt>Tgt p.G161C CHTOP_ENST00000368690.3_Intron|CHTOP_ENST00000495554.1_Intron|CHTOP_ENST00000368686.1_3'UTR|CHTOP_ENST00000368687.1_Missense_Mutation_p.G136C|CHTOP_ENST00000403433.1_Intron NM_001206612.1|NM_015607.3 NP_001193541.1|NP_056422.2 Q9Y3Y2 CHTOP_HUMAN chromatin target of PRMT1 161 Arg/Gly-rich.|Interaction with PRMT1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus protein binding|RNA binding endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6) 13 AGGTCGTGGAGGTCCTGGGAG 0.577000 56 173 4.17463e-26 6.60983e-26 0.014410 1 0 SPEF2 79925 broad.mit.edu 37 5 35776446 35776446 + Missense_Mutation SNP A A G TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr5:35776446A>G ENST00000440995.2 + 29 4151 c.4151A>G c.(4150-4152)tAt>tGt p.Y1384C SPEF2_ENST00000356031.3_Missense_Mutation_p.Y1389C|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 1389 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTTGATGTATATAAACTCATG 0.343000 25 58 0 0 0.006320 0 0 ZNF77 58492 broad.mit.edu 37 19 2933768 2933768 + Missense_Mutation SNP C C G TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr19:2933768C>G ENST00000314531.4 - 4 1449 c.1357G>C c.(1357-1359)Gag>Cag p.E453Q NM_021217.2 NP_067040.1 Q15935 ZNF77_HUMAN zinc finger protein 77 453 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1) 17 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) CGCACATGCTCTCGAAGGGAG 0.507000 24 42 0 0 0.004656 0 0 OR2A5 393046 broad.mit.edu 37 7 143748153 143748153 + Missense_Mutation SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr7:143748153G>A ENST00000408906.2 + 1 693 c.659G>A c.(658-660)cGc>cAc p.R220H NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) TCCTACTCGCGCATCCTGGCG 0.607000 48 161 0 0 0.014410 0 0 CYP4F11 57834 broad.mit.edu 37 19 16025692 16025692 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr19:16025692G>T ENST00000326742.7 - 9 1130 c.1129C>A c.(1129-1131)Cag>Aag p.Q377K CYP4F11_ENST00000402119.3_Missense_Mutation_p.Q377K|CYP4F11_ENST00000248041.7_Missense_Mutation_p.Q377K Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 377 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 AAGGGCAGCTGGGCCAGGTCG 0.537000 33 96 2.20262e-25 3.46343e-25 0.013726 1 0 S1PR1 1901 broad.mit.edu 37 1 101705375 101705375 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:101705375G>T ENST00000305352.6 + 2 1210 c.835G>T c.(835-837)Gat>Tat p.D279Y NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 279 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 GCTCCTGCTGGATGTGGGCTG 0.567000 65 175 3.79397e-19 5.72864e-19 0.014410 1 0 TNKS 8658 broad.mit.edu 37 8 9413594 9413594 + Missense_Mutation SNP A A G TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr8:9413594A>G ENST00000310430.6 + 1 171 c.145A>G c.(145-147)Acg>Gcg p.T49A TNKS_ENST00000522110.1_Missense_Mutation_p.T49A|RP11-375N15.2_ENST00000607598.1_RNA|TNKS_ENST00000520408.1_Missense_Mutation_p.T49A NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 49 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding p.T49A(3) NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) AGCCTCTCCCACGGCCAGCGG 0.776000 3 40 0 0 0.004672 0 0 DSG3 1830 broad.mit.edu 37 18 29049194 29049194 + Silent SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr18:29049194C>T ENST00000257189.4 + 12 1862 c.1779C>T c.(1777-1779)ggC>ggT p.G593G NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 593 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ACAACAGGGGCATCTGTGGAA 0.577000 5 102 0 0 0.000602 0 0 TNR 7143 broad.mit.edu 37 1 175375733 175375733 + Missense_Mutation SNP C C G TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:175375733C>G ENST00000367674.1 - 3 826 c.118G>C c.(118-120)Gtc>Ctc p.V40L TNR_ENST00000263525.2_Missense_Mutation_p.V40L NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 40 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TGTCTCTGGACCCTTTCTGTG 0.507000 53 145 0 0 0.014410 0 0 MARCH1 55016 broad.mit.edu 37 4 164534479 164534479 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr4:164534479G>T ENST00000503008.1 - 5 1205 c.229C>A c.(229-231)Cag>Aag p.Q77K MARCH1_ENST00000514618.1_Missense_Mutation_p.Q77K|MARCH1_ENST00000274056.7_Missense_Mutation_p.Q77K|MARCH1_ENST00000339875.5_Missense_Mutation_p.Q60K NM_001166373.1 NP_001159845.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 77 antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding p.Q60K(1)|p.Q77K(1) endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CAGATGTCCTGAGTGGATGGA 0.428000 23 53 2.79863e-10 3.6255e-10 0.004656 1 0 OR4D6 219983 broad.mit.edu 37 11 59224535 59224535 + Silent SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr11:59224535G>A ENST00000300127.2 + 1 125 c.102G>A c.(100-102)gtG>gtA p.V34V NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 TCTTTGCTGTGTATGTAGCAA 0.458000 44 83 0 0 0.010771 0 0 PRDM9 56979 broad.mit.edu 37 5 23522469 23522469 + Missense_Mutation SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr5:23522469C>T ENST00000296682.3 + 7 747 c.565C>T c.(565-567)Cat>Tat p.H189Y NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 189 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding 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 AAGAAAGGGTCATGCATACAA 0.463000 HNSCC(3;0.000094) 70 139 0 0 0.014410 0 0 TSIX 9383 broad.mit.edu 37 X 73046730 73046730 + RNA SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chrX:73046730C>A ENST00000604411.1 + 0 34691 XIST_ENST00000429829.1_lincRNA NR_003255.2 TGTCCTGTCCCAGGTCTTAAG 0.502000 37 20 9.04072e-19 1.3385e-18 0.003271 1 0 PIGA 5277 broad.mit.edu 37 X 15339751 15339751 + Missense_Mutation SNP C C G TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chrX:15339751C>G ENST00000333590.4 - 6 1416 c.1332G>C c.(1330-1332)tgG>tgC p.W444C PIGA_ENST00000542278.1_Missense_Mutation_p.W210C|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_Missense_Mutation_p.W129C NM_002641.3 NP_002632.1 P37287 PIGA_HUMAN phosphatidylinositol glycan anchor biosynthesis, class A 444 C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1) 10 Hepatocellular(33;0.183) CTGGAGTCATCCATCTCAAGA 0.448000 55 42 0 0 0.014410 0 0 NAA16 79612 broad.mit.edu 37 13 41933009 41933009 + Missense_Mutation SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr13:41933009G>A ENST00000379406.3 + 12 1645 c.1321G>A c.(1321-1323)Gat>Aat p.D441N NAA16_ENST00000379367.3_Missense_Mutation_p.D441N NM_024561.4 NP_078837.3 Q6N069 NAA16_HUMAN N(alpha)-acetyltransferase 16, NatA auxiliary subunit 441 N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2) 31 GGACACAGCTGATAGATTCAT 0.358000 25 71 0 0 0.002780 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 4 46 0 0 0.009096 0 0 CFHR1 3078 broad.mit.edu 37 1 196799765 196799765 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:196799765G>T ENST00000320493.5 + 5 831 c.743G>T c.(742-744)cGa>cTa p.R248L CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Missense_Mutation_p.R189L NM_002113.2 NP_002104.2 Q03591 FHR1_HUMAN complement factor H-related 1 248 Sushi 4. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 GGTAACAAGCGAATAACATGT 0.403000 8 29 5.18039e-06 5.76161e-06 0.003080 1 0 ZNF716 441234 broad.mit.edu 37 7 57510015 57510015 + Silent SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr7:57510015C>T ENST00000420713.1 + 1 133 c.21C>T c.(19-21)ccC>ccT p.P7P NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 GACCGGGACCCCCTGGAAGCC 0.567000 18 45 0 0 0.006122 0 0 AKR1B15 441282 broad.mit.edu 37 7 134261132 134261132 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr7:134261132G>T ENST00000457545.2 + 9 1035 c.775G>T c.(775-777)Gat>Tat p.D259Y AKR1B15_ENST00000423958.1_Missense_Mutation_p.D231Y NM_001080538.2 NP_001074007.2 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 259 oxidoreductase activity endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1) 18 CCTGCTGGAGGATCCCAAGAT 0.463000 14 44 2.31682e-05 2.55186e-05 0.003163 1 0 POU2F1 5451 broad.mit.edu 37 1 167367302 167367302 + Missense_Mutation SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:167367302C>T ENST00000367862.5 + 11 1403 c.1168C>T c.(1168-1170)Cgt>Tgt p.R390C POU2F1_ENST00000420254.3_Missense_Mutation_p.R378C|POU2F1_ENST00000367866.2_Missense_Mutation_p.R401C|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.R338C|POU2F1_ENST00000541643.3_Missense_Mutation_p.R378C NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 378 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 GGGCTTGAGCCGTAGGAGGAA 0.463000 8 45 0 0 0.006214 0 0 CDHR2 54825 broad.mit.edu 37 5 176011684 176011684 + Missense_Mutation SNP T T A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr5:176011684T>A ENST00000510636.1 + 19 2676 c.2402T>A c.(2401-2403)gTg>gAg p.V801E CDHR2_ENST00000261944.5_Missense_Mutation_p.V801E|CDHR2_ENST00000506348.1_Missense_Mutation_p.V801E NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 801 Cadherin 7. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 GTGAAAGACGTGAACGACAAT 0.592000 57 132 0 0 0.014410 0 0 ITPR1 3708 broad.mit.edu 37 3 4725425 4725425 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr3:4725425G>T ENST00000302640.8 + 27 3746 c.3396G>T c.(3394-3396)caG>caT p.Q1132H ITPR1_ENST00000456211.2_Missense_Mutation_p.Q1123H|ITPR1_ENST00000443694.2_Missense_Mutation_p.Q1132H|ITPR1_ENST00000354582.6_Missense_Mutation_p.Q1147H|ITPR1_ENST00000423119.2_Missense_Mutation_p.Q1138H|ITPR1_ENST00000357086.4_Missense_Mutation_p.Q1138H|ITPR1_ENST00000544951.1_Intron NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 1147 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) ACAAAGGGCAGGGCCCCGATG 0.468000 18 57 3.41278e-10 4.32286e-10 0.004990 1 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651747 84651747 + Missense_Mutation SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr15:84651747C>A ENST00000286744.5 + 21 3591 c.3367C>A c.(3367-3369)Cag>Aag p.Q1123K ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.Q1123K NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1123 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) GCTGATATATCAGCTGGTGGC 0.537000 17 65 1.15088e-07 1.36667e-07 0.004007 1 0 CNKSR2 22866 broad.mit.edu 37 X 21613104 21613104 + Missense_Mutation SNP G G C TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chrX:21613104G>C ENST00000425654.2 + 15 2233 c.1753G>C c.(1753-1755)Gaa>Caa p.E585Q CNKSR2_ENST00000279451.4_Missense_Mutation_p.E615Q|CNKSR2_ENST00000543067.1_Missense_Mutation_p.E566Q|CNKSR2_ENST00000379510.3_Missense_Mutation_p.E615Q NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 615 PH. regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 TGAAAAAGCAGAAGGATTCAT 0.353000 5 6 0 0 0.001168 0 0 ZC3H14 79882 broad.mit.edu 37 14 89044337 89044337 + Missense_Mutation SNP A A C TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr14:89044337A>C ENST00000251038.5 + 9 1357 c.1132A>C c.(1132-1134)Aaa>Caa p.K378Q ZC3H14_ENST00000393514.5_Missense_Mutation_p.K378Q|ZC3H14_ENST00000359301.3_Missense_Mutation_p.K344Q|ZC3H14_ENST00000336693.4_Missense_Mutation_p.K344Q|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000302216.8_Missense_Mutation_p.K378Q|ZC3H14_ENST00000557607.1_Missense_Mutation_p.K223Q|ZC3H14_ENST00000556945.1_Missense_Mutation_p.K378Q|ZC3H14_ENST00000555755.1_Missense_Mutation_p.K378Q NM_001160103.1|NM_001160104.1|NM_024824.4 NP_001153575.1|NP_001153576.1|NP_079100.2 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 378 cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 AGTTCCACAGAAACAGACACT 0.408000 19 70 0 0 0.008871 0 0 ZNF75D 7626 broad.mit.edu 37 X 134421119 134421119 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chrX:134421119G>T ENST00000370766.3 - 7 4192 c.1483C>A c.(1483-1485)Cac>Aac p.H495N ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.H400N NM_007131.3 NP_009062.2 P51815 ZN75D_HUMAN zinc finger protein 75D 495 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 AGTTTCTGGTGTCTAAGAAGG 0.433000 31 31 3.69857e-22 5.69779e-22 0.008361 1 0 KRTAP19-3 337970 broad.mit.edu 37 21 31864160 31864160 + Missense_Mutation SNP C C T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr21:31864160C>T ENST00000334063.4 - 1 115 c.116G>A c.(115-117)tGt>tAt p.C39Y NM_181609.3 NP_853640.1 Q7Z4W3 KR193_HUMAN keratin associated protein 19-3 39 intermediate filament large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 9 TCCATAGCCACAGCCAGAACC 0.572000 73 237 0 0 0.014410 0 0 ELF3 1999 broad.mit.edu 37 1 201981157 201981164 + Frame_Shift_Del DEL AAGTGGAG AAGTGGAG - TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:201981157_201981164delAAGTGGAG ENST00000359651.3 + 2 3428_3435 c.236_243delAAGTGGAG c.(235-243)cfs p.QVE79fs RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Frame_Shift_Del_p.QVE79fs|ELF3_ENST00000367284.5_Frame_Shift_Del_p.QVE79fs|ELF3_ENST00000495848.1_3'UTR P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 79 PNT. epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 ATCAGCTACCAAGTGGAGAAGAACAAGT 0.572 14 163 --- --- --- --- OR2T7 81458 broad.mit.edu 37 1 248604776 248604776 + Frame_Shift_Del DEL C C - TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr1:248604776delC ENST00000460972.3 + 1 269 c.269delC c.(268-270)gcfs p.A90fs olfactory receptor, family 2, subfamily T, member 7 GGATGCACTGCCCAACACTTC 0.522 8 57 --- --- --- --- RP11-608O21.1 0 broad.mit.edu 37 4 19815895 19815896 + RNA DEL AA AA - rs145239076 TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr4:19815895_19815896delAA ENST00000511431.1 + 0 288 TCTGGGCTGTaaaaaaaaaaaa 0.411 2 4 --- --- --- --- SYNCRIP 10492 broad.mit.edu 37 6 86350039 86350040 + Frame_Shift_Ins INS - - TT TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr6:86350039_86350040insTT ENST00000355238.6 - 4 480_481 c.274_275insAA c.(274-276)tgcfs p.C92fs SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.C92fs NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1 NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 92 CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) TAAAAAGGCACTTTTGTTCTGC 0.317 23 41 --- --- --- --- SLC7A13 157724 broad.mit.edu 37 8 87229978 87229978 + Frame_Shift_Del DEL A A - TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr8:87229978delA ENST00000297524.3 - 3 1003 c.900delT c.(898-900)ttfs p.F300fs SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Frame_Shift_Del_p.F291fs NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 300 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 GAAGGTTGCTAAATAATGAGG 0.373 81 84 --- --- --- --- ADCK5 203054 broad.mit.edu 37 8 145617535 145617549 + Splice_Site DEL GGGGGTGCAAGGTGA GGGGGTGCAAGGTGA - rs11270020 TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr8:145617535_145617549delGGGGGTGCAAGGTGA ENST00000308860.6 + 12 1301_1311 c.1267_splice c.e12+1 p.L419_splice NM_174922.3 NP_777582.3 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 419 Protein kinase. integral to membrane protein serine/threonine kinase activity p.?(2) endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2) 8 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA 0.730 4 6 --- --- --- --- TSKU 25987 broad.mit.edu 37 11 76506673 76506675 + In_Frame_Del DEL CTG CTG - TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr11:76506673_76506675delCTG ENST00000527881.1 + 2 1039_1041 c.13_15delCTG c.(13-15)del p.L9del TSKU_ENST00000333090.4_In_Frame_Del_p.L9del Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 9 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) GCCGTGGCCCCTGCTGCTGCTGC 0.616 7 79 --- --- --- --- MAP2K1 5604 broad.mit.edu 37 15 66729094 66729099 + In_Frame_Del DEL TGGAGA TGGAGA - TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr15:66729094_66729099delTGGAGA ENST00000307102.5 + 3 833_838 c.302_307delTGGAGA c.(301-309)ctc>c p.LEI101del NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 101 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 CTAATTCATCTGGAGATCAAACCCGC 0.447 12 43 --- --- --- --- LINC00482 284185 broad.mit.edu 37 17 79279019 79279020 + RNA INS - - C rs3215153 by1000genomes TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d92901e-34d0-4df2-8d9a-a6af8558c322 495f1a73-d117-4713-b39a-7517acf0ac19 g.chr17:79279019_79279020insC ENST00000332012.5 - 0 573_574 NR_038080.1 CCCAGGCACAGCCCCTGAGGCA 0.673 9 5 --- --- --- ---