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 RDH16 8608 broad.mit.edu 37 12 57351084 57351084 + Silent SNP G G T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr12:57351084G>T ENST00000398138.3 - 1 1019 c.163C>A c.(163-165)Cgg>Agg p.R55R RDH16_ENST00000360752.4_5'UTR NM_003708.3 NP_003699.3 O75452 RDH16_HUMAN retinol dehydrogenase 16 (all-trans) 55 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9) 16 GCCAGCACCCGCAAGCCTCGT 0.587000 10 33 1.08611e-07 2.41906e-07 0.000978 1 0 RPL10 6134 broad.mit.edu 37 X 153628946 153628946 + Missense_Mutation SNP C C G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chrX:153628946C>G ENST00000424325.2 + 6 659 c.471C>G c.(469-471)ttC>ttG p.F157L RPL10_ENST00000406022.2_Missense_Mutation_p.F106L|RPL10_ENST00000369817.2_Missense_Mutation_p.F157L NM_001256577.1|NM_001256580.1|NM_006013.3 NP_001243506.1|NP_001243509.1|NP_006004.2 P27635 RL10_HUMAN ribosomal protein L10 157 F -> L (in Ref. 8; BAD97029). endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|endoplasmic reticulum structural constituent of ribosome large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGGCCAAGTTCAAGTTTCCTG 0.562000 3 35 0 0 0.004672 0 0 ASNA1 439 broad.mit.edu 37 19 12856229 12856229 + Silent SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr19:12856229C>T ENST00000591090.1 + 4 450 c.348C>T c.(346-348)gaC>gaT p.D116D ASNA1_ENST00000357332.3_Silent_p.D116D O43681 ASNA_HUMAN arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) 116 response to arsenic-containing substance endoplasmic reticulum|nucleolus|soluble fraction arsenite-transporting ATPase activity|ATP binding|metal ion binding endometrium(1)|lung(6)|ovary(3) 10 Adenosine triphosphate(DB00171) AGCTGCCTGACGAGTTCTTCG 0.612000 8 20 0 0 0.003080 0 0 PTPN13 5783 broad.mit.edu 37 4 87692491 87692491 + Silent SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr4:87692491G>A ENST00000436978.1 + 31 5466 c.4986G>A c.(4984-4986)ggG>ggA p.G1662G PTPN13_ENST00000316707.6_Silent_p.G1466G|PTPN13_ENST00000511467.1_Silent_p.G1662G|PTPN13_ENST00000427191.2_Silent_p.G1638G|PTPN13_ENST00000411767.2_Silent_p.G1657G NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 1657 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) ACAGCAGTGGGAGTGGAGAAG 0.453000 4 4 0 0 0.000602 0 0 SORL1 6653 broad.mit.edu 37 11 121384941 121384941 + Silent SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr11:121384941C>T ENST00000260197.7 + 8 1251 c.1122C>T c.(1120-1122)atC>atT p.I374I SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 374 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) ATTTATACATCTCAGAGGCAG 0.507000 6 75 0 0 0.001984 0 0 RWDD2B 10069 broad.mit.edu 37 21 30380219 30380219 + Missense_Mutation SNP A A T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr21:30380219A>T ENST00000493196.1 - 4 688 c.588T>A c.(586-588)caT>caA p.H196Q RWDD2B_ENST00000486719.1_5'UTR NM_016940.2 NP_058636.1 P57060 RWD2B_HUMAN RWD domain containing 2B 196 endometrium(1)|kidney(1)|large_intestine(8)|lung(2) 12 TGTTATAGATATGATGGCTGT 0.458000 7 59 0 0 0.003080 0 0 NCAN 1463 broad.mit.edu 37 19 19338829 19338829 + Silent SNP G G C TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr19:19338829G>C ENST00000252575.5 + 8 2443 c.2400G>C c.(2398-2400)ggG>ggC p.G800G NCAN_ENST00000538881.1_Silent_p.G251G NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 800 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CCCCCCTGGGGAGCCCTGGAG 0.567000 11 136 0 0 0.000978 0 0 PPIH 10465 broad.mit.edu 37 1 43124905 43124905 + Missense_Mutation SNP C C G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr1:43124905C>G ENST00000304979.3 + 3 160 c.138C>G c.(136-138)ttC>ttG p.F46L PPIH_ENST00000455203.2_5'UTR|PPIH_ENST00000372549.1_Missense_Mutation_p.F20L|PPIH_ENST00000372550.1_5'UTR NM_006347.3 NP_006338.1 O43447 PPIH_HUMAN peptidylprolyl isomerase H (cyclophilin H) 46 PPIase cyclophilin-type. protein complex assembly|protein folding cytoplasm|nuclear speck|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|ribonucleoprotein binding endometrium(1)|large_intestine(1)|lung(2) 4 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) L-Proline(DB00172) TCAGGCAGTTCTGCACCGGAG 0.483000 30 120 0 0 0.002836 0 0 CNEP1R1 255919 broad.mit.edu 37 16 50063658 50063658 + Silent SNP C C G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr16:50063658C>G ENST00000458059.3 + 4 1077 c.171C>G c.(169-171)gtC>gtG p.V57V CNEP1R1_ENST00000427478.2_Silent_p.V40V|CNEP1R1_ENST00000565556.1_Silent_p.V8V|CNEP1R1_ENST00000562576.1_Silent_p.V40V NM_153261.4 NP_694993.2 Q8N9A8 TM188_HUMAN CTD nuclear envelope phosphatase 1 regulatory subunit 1 40 integral to membrane TGGTATCTGTCTGTACAGCTA 0.338000 3 35 0 0 0.000602 0 0 PIK3CB 5291 broad.mit.edu 37 3 138374244 138374244 + Missense_Mutation SNP T T A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr3:138374244T>A ENST00000477593.1 - 23 3273 c.3200A>T c.(3199-3201)gAc>gTc p.D1067V PIK3CB_ENST00000544716.1_Missense_Mutation_p.D518V|PIK3CB_ENST00000289153.2_Missense_Mutation_p.D1067V P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 1067 PI3K/PI4K. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.D1067V(1) NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 AGATCTGTAGTCTTTCCGAAC 0.408000 37 63 0 0 0.005524 0 0 SON 6651 broad.mit.edu 37 21 34923613 34923613 + Silent SNP T T A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr21:34923613T>A ENST00000356577.4 + 3 2551 c.2076T>A c.(2074-2076)ccT>ccA p.P692P SON_ENST00000381679.4_Silent_p.P692P|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Silent_p.P692P|SON_ENST00000290239.6_Silent_p.P692P NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 692 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 AGGAGCTGCCTACTACATTAG 0.512000 16 56 0 0 0.004990 0 0 TRIM42 287015 broad.mit.edu 37 3 140406956 140406956 + Missense_Mutation SNP G G T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr3:140406956G>T ENST00000286349.3 + 3 1623 c.1432G>T c.(1432-1434)Gac>Tac p.D478Y NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 478 COS. intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CGTGCCCTTGGACTTTGTTGA 0.602000 11 22 5.50884e-06 1.1997e-05 0.001368 1 0 HIRA 7290 broad.mit.edu 37 22 19393354 19393354 + Missense_Mutation SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr22:19393354C>T ENST00000263208.5 - 5 608 c.352G>A c.(352-354)Gtg>Atg p.V118M HIRA_ENST00000546308.1_Missense_Mutation_p.V74M|HIRA_ENST00000464189.1_5'UTR|HIRA_ENST00000340170.4_Missense_Mutation_p.V118M|HIRA_ENST00000541063.1_Missense_Mutation_p.V74M NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 118 chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) CACTGCTCCACATTGGCAAGC 0.602000 5 32 0 0 0.001984 0 0 SLC6A3 6531 broad.mit.edu 37 5 1422042 1422042 + Silent SNP G G C TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr5:1422042G>C ENST00000270349.9 - 5 868 c.741C>G c.(739-741)gtC>gtG p.V247V SLC6A3_ENST00000453492.2_Silent_p.V247V NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 247 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) GCAGCACGATGACCAGCACCA 0.647000 7 88 0 0 0.001984 0 0 TRIO 7204 broad.mit.edu 37 5 14508431 14508431 + Missense_Mutation SNP G G C TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr5:14508431G>C ENST00000344204.4 + 57 9218 c.9194G>C c.(9193-9195)aGa>aCa p.R3065T TRIO_ENST00000344135.5_Missense_Mutation_p.R564T|TRIO_ENST00000537187.1_Missense_Mutation_p.R2889T NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 3065 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GACACGTCCAGACTGACTTCC 0.592000 4 67 0 0 0.000248 0 0 EIF2AK2 5610 broad.mit.edu 37 2 37347201 37347201 + Silent SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr2:37347201G>A ENST00000233057.4 - 13 1471 c.1149C>T c.(1147-1149)ggC>ggT p.G383G EIF2AK2_ENST00000405334.1_Silent_p.G342G|EIF2AK2_ENST00000395127.2_Silent_p.G383G NM_001135651.2 NP_001129123.1 P19525 E2AK2_HUMAN eukaryotic translation initiation factor 2-alpha kinase 2 383 Protein kinase. evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle cytosol ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1) 22 all_hematologic(82;0.248) CTAGTTTCTCGCCTCTTCTTT 0.343000 7 33 0 0 0.001984 0 0 RFC1 5981 broad.mit.edu 37 4 39310409 39310409 + Missense_Mutation SNP C C G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr4:39310409C>G ENST00000381897.1 - 13 1865 c.1732G>C c.(1732-1734)Gaa>Caa p.E578Q RFC1_ENST00000349703.2_Missense_Mutation_p.E578Q NM_001204747.1|NM_002913.4 NP_001191676.1|NP_002904.3 P35251 RFC1_HUMAN replication factor C (activator 1) 1, 145kDa 578 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 ACTTTGTTTTCACTGCTGTCA 0.463000 26 131 0 0 0.004656 0 0 CALCB 797 broad.mit.edu 37 11 15098881 15098881 + Missense_Mutation SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr11:15098881C>T ENST00000523376.1 + 9 1569 c.307C>T c.(307-309)Cgg>Tgg p.R103W CALCB_ENST00000533448.1_Missense_Mutation_p.R92W|CALCB_ENST00000324229.6_Missense_Mutation_p.R92W P10092 CALCB_HUMAN calcitonin-related polypeptide beta 92 cellular calcium ion homeostasis|signal transduction|vasodilation extracellular region|soluble fraction neuropeptide hormone activity endometrium(1)|large_intestine(1)|lung(1)|skin(2) 5 TGTGACTCATCGGCTGGCAGG 0.567000 6 11 0 0 0.001168 0 0 TSHZ1 10194 broad.mit.edu 37 18 73000485 73000485 + Silent SNP C C T rs147097201 TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr18:73000485C>T ENST00000322038.5 + 2 3572 c.2988C>T c.(2986-2988)ctC>ctT p.L996L TSHZ1_ENST00000580243.1_Silent_p.L1041L NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 1041 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) AATGTAAGCTCTGCAACCGGA 0.527000 20 39 0 0 0.001882 0 0 HM13 81502 broad.mit.edu 37 20 30154066 30154066 + Silent SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr20:30154066G>A ENST00000335574.5 + 11 1126 c.1002G>A c.(1000-1002)gcG>gcA p.A334A HM13_ENST00000376127.3_Silent_p.A292A|HM13_ENST00000340852.5_Silent_p.A334A|HM13_ENST00000398174.3_Silent_p.A334A|HM13_ENST00000492709.1_3'UTR NM_178580.1 NP_848695.1 Q8TCT9 HM13_HUMAN histocompatibility (minor) 13 334 membrane protein proteolysis cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane aspartic-type endopeptidase activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) TCCTGGTGGCGCTGGCCAAGG 0.612000 10 107 0 0 0.008291 0 0 TP53 7157 broad.mit.edu 37 17 7578549 7578549 + Silent SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr17:7578549G>A ENST00000420246.2 - 5 513 c.381C>T c.(379-381)tcC>tcT p.S127S TP53_ENST00000413465.2_Silent_p.S127S|TP53_ENST00000445888.2_Silent_p.S127S|TP53_ENST00000359597.4_Silent_p.S127S|TP53_ENST00000455263.2_Silent_p.S127S|TP53_ENST00000269305.4_Silent_p.S127S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 127 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (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.0?(8)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.S127F(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127S(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S127fs*42(1)|p.Y126fs*18(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) TGAGGGCAGGGGAGTACTGTA 0.552000 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) 10 11 0 0 0.006214 0 0 BCOR 54880 broad.mit.edu 37 X 39937101 39937101 + Missense_Mutation SNP C C G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chrX:39937101C>G ENST00000342274.4 - 2 444 c.82G>C c.(82-84)Gac>Cac p.D28H BCOR_ENST00000378455.4_Missense_Mutation_p.D28H|BCOR_ENST00000378444.4_Missense_Mutation_p.D28H|BCOR_ENST00000397354.3_Missense_Mutation_p.D28H NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 28 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 ATTCACCTGTCTTCGCTCGCC 0.627000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 18 9 0 0 0.008871 0 0 SHCBP1L 81626 broad.mit.edu 37 1 182909570 182909570 + Missense_Mutation SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr1:182909570C>T ENST00000367547.3 - 3 900 c.664G>A c.(664-666)Gag>Aag p.E222K SHCBP1L_ENST00000423786.1_Missense_Mutation_p.E103K|SHCBP1L_ENST00000488956.1_5'UTR NM_030933.2 NP_112195.2 Q9BZQ2 SHP1L_HUMAN SHC SH2-domain binding protein 1-like 294 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2) 15 TCCAAAATCTCATCAACCAAA 0.403000 10 76 0 0 0.008291 0 0 FAM49A 81553 broad.mit.edu 37 2 16734259 16734259 + Missense_Mutation SNP G G C TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr2:16734259G>C ENST00000381323.3 - 12 1137 c.917C>G c.(916-918)aCa>aGa p.T306R FAM49A_ENST00000406434.1_Missense_Mutation_p.T306R|FAM49A_ENST00000355549.2_Missense_Mutation_p.T306R NM_030797.3 NP_110424.1 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 306 intracellular breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) CAAGTGCTTTGTAGTGAACCT 0.438000 8 44 0 0 0.008291 0 0 TCF21 6943 broad.mit.edu 37 6 134210564 134210564 + Missense_Mutation SNP A A G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr6:134210564A>G ENST00000367882.4 + 1 289 c.29A>G c.(28-30)gAg>gGg p.E10G RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.E10G NM_003206.3 NP_003197.2 O43680 TCF21_HUMAN transcription factor 21 10 branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 13 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) AGCGATGTGGAGGACCTTCAA 0.532000 6 60 0 0 0.001168 0 0 CHRNB3 1142 broad.mit.edu 37 8 42587134 42587134 + Silent SNP C C G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr8:42587134C>G ENST00000289957.2 + 5 812 c.684C>G c.(682-684)gtC>gtG p.V228V NM_000749.3 NP_000740.1 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 3 (neuronal) 228 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) ATTCCTTCGTCCTGAGACGCC 0.478000 28 57 0 0 0.005443 0 0 OR2L3 391192 broad.mit.edu 37 1 248224417 248224417 + Missense_Mutation SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr1:248224417C>T ENST00000359959.3 + 1 434 c.434C>T c.(433-435)aCa>aTa p.T145I OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CTGATGATAACAGGGTCTTGG 0.423000 11 124 0 0 0.001368 0 0 RAPSN 5913 broad.mit.edu 37 11 47464319 47464319 + Silent SNP G G C TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr11:47464319G>C ENST00000298854.2 - 3 792 c.579C>G c.(577-579)gtC>gtG p.V193V RAPSN_ENST00000529341.1_Silent_p.V193V|RAPSN_ENST00000524487.1_Intron|RAPSN_ENST00000352508.3_Silent_p.V193V NM_005055.4 NP_005046.2 Q13702 RAPSN_HUMAN receptor-associated protein of the synapse 193 synaptic transmission, cholinergic cell junction|cytoskeleton|postsynaptic membrane acetylcholine receptor binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(6)|ovary(2) 12 CATAGTTGTTGACAAGCTCTG 0.612000 13 26 0 0 0.002450 0 0 SYNPO2 171024 broad.mit.edu 37 4 119952308 119952308 + Missense_Mutation SNP C C G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr4:119952308C>G ENST00000307142.4 + 4 2574 c.2378C>G c.(2377-2379)cCc>cGc p.P793R SYNPO2_ENST00000429713.2_Missense_Mutation_p.P793R|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P793R|SYNPO2_ENST00000448416.2_Intron NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 793 Pro-rich. nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CCTGCCTTCCCCACATCCAAC 0.567000 4 61 0 0 0.000248 0 0 GPSM2 29899 broad.mit.edu 37 1 109465042 109465042 + Missense_Mutation SNP A A G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr1:109465042A>G ENST00000406462.1 + 14 2217 c.1444A>G c.(1444-1446)Atc>Gtc p.I482V AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Missense_Mutation_p.I482V P81274 GPSM2_HUMAN G-protein signaling modulator 2 482 G-protein coupled receptor protein signaling pathway cell cortex|nucleus GTPase activator activity|identical protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3) 14 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209) ATTTTAGAAAATCAGTGCAGA 0.318000 16 19 0 0 0.003163 0 0 TPTE2P2 644623 broad.mit.edu 37 13 52864001 52864001 + RNA SNP A A G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr13:52864001A>G ENST00000451298.1 - 0 168 RP11-64P12.8_ENST00000606031.1_RNA GAAAAAATAAAGCAATAGCTA 0.313000 3 22 0 0 0.004672 0 0 IGLV3-16 28799 broad.mit.edu 37 22 23090384 23090384 + RNA SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr22:23090384C>T ENST00000390311.2 + 0 361 TACTGTCTATCAGCAGACAGC 0.522000 26 41 0 0 0.003755 0 0 NAPRT1 93100 broad.mit.edu 37 8 144658293 144658293 + Silent SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr8:144658293G>A ENST00000449291.2 - 8 1356 c.1062C>T c.(1060-1062)gtC>gtT p.V354V NAPRT1_ENST00000276844.7_Silent_p.V354V|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000435154.3_Silent_p.V354V|NAPRT1_ENST00000426292.3_Silent_p.V354V|NAPRT1_ENST00000460623.1_5'UTR Q6XQN6 PNCB_HUMAN nicotinate phosphoribosyltransferase domain containing 1 354 nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process cytosol|Golgi apparatus|nucleus nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) TGTTGTTGCTGACTACGATGA 0.672000 12 40 0 0 0.001855 0 0 ROCK2 9475 broad.mit.edu 37 2 11347878 11347878 + Silent SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr2:11347878C>T ENST00000315872.6 - 20 2971 c.2523G>A c.(2521-2523)ttG>ttA p.L841L ROCK2_ENST00000401753.1_Silent_p.L598L NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 841 axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) TTTGTTTTTCCAAGTTCATTT 0.303000 5 27 0 0 0.000602 0 0 C10orf67 256815 broad.mit.edu 37 10 23633575 23633575 + Silent SNP G G T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr10:23633575G>T ENST00000323327.4 - 1 199 c.132C>A c.(130-132)acC>acA p.T44T RP11-371A19.2_ENST00000443224.1_RNA NM_153714.2 NP_714925.2 Q8IYJ2 CJ067_HUMAN chromosome 10 open reading frame 67 44 central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1) 5 CCCGCAGCTCGGTGGCCTTGG 0.597000 3 5 0.004672 0.00963907 0.004672 1 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 4 44 0 0 0.001984 0 0 OR4K17 390436 broad.mit.edu 37 14 20585923 20585923 + Missense_Mutation SNP C C G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr14:20585923C>G ENST00000315543.4 + 1 358 c.358C>G c.(358-360)Cag>Gag p.Q120E NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) GTTAAAAAAGCAGAAGGTAAT 0.413000 45 78 0 0 0.003214 0 0 RARA 5914 broad.mit.edu 37 17 38508322 38508322 + Splice_Site SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr17:38508322G>A ENST00000254066.5 + 5 1085 c.630_splice c.e5+1 p.T210_splice RARA_ENST00000425707.3_Splice_Site_p.T113_splice|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Splice_Site_p.T210_splice|RARA_ENST00000394086.3_Splice_Site_p.T226_splice|RARA_ENST00000394081.3_Splice_Site_p.T205_splice NM_000964.3 NP_000955.1 P10276 RARA_HUMAN retinoic acid receptor, alpha 210 Ligand-binding. apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus cytoplasm|nucleoplasm chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2) 16 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00143) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799) AATACACTACGGTATGGCTTT 0.632000 T """PML, ZNF145, TIF1, NUMA1, NPM1""" APL 4 4 0 0 0.000248 0 0 IGLV2-28 28812 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 4 16 0 0 0.000602 0 0 SYNPO2L 79933 broad.mit.edu 37 10 75407893 75407893 + Missense_Mutation SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr10:75407893G>A ENST00000394810.2 - 4 1666 c.1517C>T c.(1516-1518)cCa>cTa p.P506L SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P282L|SYNPO2L_ENST00000372872.4_Missense_Mutation_p.P506L NM_001114133.1 NP_001107605.1 Q9H987 SYP2L_HUMAN synaptopodin 2-like 506 Pro-rich. cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) GAAGGGGGGTGGGGCGGGGCT 0.677000 3 8 0 0 0.004672 0 0 POLK 51426 broad.mit.edu 37 5 74892047 74892047 + Splice_Site SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr5:74892047G>A ENST00000241436.4 + 13 1701 c.1528_splice c.e13-1 p.G510_splice POLK_ENST00000508526.1_Splice_Site_p.G312_splice|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000352007.5_Splice_Site_p.G312_splice|POLK_ENST00000504026.1_Intron|POLK_ENST00000380481.3_Splice_Site_p.G420_splice NM_016218.2 NP_057302.1 Q9UBT6 POLK_HUMAN polymerase (DNA directed) kappa 510 DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 27 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) TTTAATTTAGGTGTTCGGATA 0.373000 DNA polymerases (catalytic subunits) 8 12 0 0 0.006214 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 7 28 0 0 0.003080 0 0 GAPDH 2597 broad.mit.edu 37 12 6646508 6646508 + Silent SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr12:6646508C>T ENST00000229239.5 + 7 1143 c.477C>T c.(475-477)ccC>ccT p.P159P GAPDH_ENST00000396856.1_Silent_p.P84P|GAPDH_ENST00000396858.1_Silent_p.P117P|GAPDH_ENST00000396861.1_Silent_p.P159P|GAPDH_ENST00000396859.1_Silent_p.P159P NM_002046.4 NP_002037.2 P04406 G3P_HUMAN glyceraldehyde-3-phosphate dehydrogenase 159 gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization cytosol|membrane|nucleus|perinuclear region of cytoplasm glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4) 7 NADH(DB00157) GCTTAGCACCCCTGGCCAAGG 0.577000 15 39 0 0 0.006122 0 0 SOAT2 8435 broad.mit.edu 37 12 53516948 53516948 + Silent SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr12:53516948C>T ENST00000301466.3 + 13 1380 c.1320C>T c.(1318-1320)ttC>ttT p.F440F NM_003578.3 NP_003569.1 O75908 SOAT2_HUMAN sterol O-acyltransferase 2 440 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly brush border|endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 18 TCTTCTGCTTCGTCCTGGGGT 0.592000 14 37 0 0 0.002450 0 0 NDRG3 57446 broad.mit.edu 37 20 35312834 35312834 + Missense_Mutation SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr20:35312834G>A ENST00000373803.2 - 6 421 c.365C>T c.(364-366)cCt>cTt p.P122L NDRG3_ENST00000349004.1_Missense_Mutation_p.P122L|NDRG3_ENST00000373773.3_Missense_Mutation_p.P27L|NDRG3_ENST00000540765.1_Missense_Mutation_p.P18L|NDRG3_ENST00000359675.2_Missense_Mutation_p.P110L Q9UGV2 NDRG3_HUMAN NDRG family member 3 122 P -> S (in Ref. 2; AAK34944). cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Myeloproliferative disorder(115;0.00878) GGTAAGAACAGGAGGCAGCAT 0.418000 7 38 0 0 0.006214 0 0 MC2R 4158 broad.mit.edu 37 18 13885087 13885087 + Missense_Mutation SNP A A G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr18:13885087A>G ENST00000327606.3 - 2 611 c.431T>C c.(430-432)aTg>aCg p.M144T NM_000529.2 NP_000520.1 Q01718 ACTHR_HUMAN melanocortin 2 receptor (adrenocorticotropic hormone) 144 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) AGTGCGGCGCATGGTCACGAT 0.582000 20 21 0 0 0.001523 0 0 FABP2 2169 broad.mit.edu 37 4 120243207 120243207 + Silent SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr4:120243207C>T ENST00000274024.3 - 1 338 c.51G>A c.(49-51)aaG>aaA p.K17K NM_000134.3 NP_000125.2 P12104 FABPI_HUMAN fatty acid binding protein 2, intestinal 17 fatty acid binding breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1) 8 TTTCCATGAACTTGTCATAGT 0.393000 27 132 0 0 0.002096 0 0 NHLRC3 387921 broad.mit.edu 37 13 39618272 39618272 + Missense_Mutation SNP C C G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr13:39618272C>G ENST00000379600.3 + 5 954 c.632C>G c.(631-633)gCt>gGt p.A211G NHLRC3_ENST00000379599.2_Missense_Mutation_p.A144G|NHLRC3_ENST00000470258.1_Missense_Mutation_p.A14G NM_001012754.2 NP_001012772.1 Q5JS37 NHLC3_HUMAN NHL repeat containing 3 211 extracellular region breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2) 11 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128) ACAGGGCCTGCTAAGTTCAAC 0.403000 69 80 0 0 0.003610 0 0 LRPPRC 10128 broad.mit.edu 37 2 44204310 44204310 + Missense_Mutation SNP T T C TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr2:44204310T>C ENST00000260665.7 - 4 632 c.575A>G c.(574-576)aAc>aGc p.N192S LRPPRC_ENST00000409659.1_Missense_Mutation_p.N192S|LRPPRC_ENST00000409946.1_Missense_Mutation_p.N192S NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 192 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TGGTTGAATGTTTGCTTCCTC 0.289000 25 29 0 0 0.005443 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34826614 34826614 + Silent SNP C C T rs149495470 by1000genomes TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr6:34826614C>T ENST00000192788.5 + 14 2652 c.2481C>T c.(2479-2481)cgC>cgT p.R827R UHRF1BP1_ENST00000452449.2_Silent_p.R827R NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 827 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 CCCATGTCCGCGTGAGGCTTG 0.527000 29 101 0 0 0.002445 0 0 TP53 7157 broad.mit.edu 37 17 7578550 7578550 + Missense_Mutation SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr17:7578550G>A ENST00000420246.2 - 5 512 c.380C>T c.(379-381)tCc>tTc p.S127F TP53_ENST00000413465.2_Missense_Mutation_p.S127F|TP53_ENST00000445888.2_Missense_Mutation_p.S127F|TP53_ENST00000359597.4_Missense_Mutation_p.S127F|TP53_ENST00000455263.2_Missense_Mutation_p.S127F|TP53_ENST00000269305.4_Missense_Mutation_p.S127F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 127 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (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.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(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) GAGGGCAGGGGAGTACTGTAG 0.552000 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) 10 10 0 0 0.006214 0 0 TMEM187 8269 broad.mit.edu 37 X 153247560 153247560 + Missense_Mutation SNP G G C TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chrX:153247560G>C ENST00000369982.4 + 2 794 c.47G>C c.(46-48)gGt>gCt p.G16A NM_003492.2 NP_003483.1 Q14656 TM187_HUMAN transmembrane protein 187 16 integral to membrane|transport vesicle breast(1)|large_intestine(1)|lung(1)|prostate(2) 5 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCCGTGGCCGGTGGCCTCTGT 0.647000 14 10 0 0 0.002450 0 0 POLR1A 25885 broad.mit.edu 37 2 86255166 86255166 + Missense_Mutation SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr2:86255166G>A ENST00000263857.6 - 33 5282 c.4904C>T c.(4903-4905)gCg>gTg p.A1635V POLR1A_ENST00000409681.1_Missense_Mutation_p.A1574V O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 1635 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 AGGGTCGACCGCGATGCCTGT 0.542000 8 28 0 0 0.008291 0 0 AUP1 550 broad.mit.edu 37 2 74754072 74754072 + Missense_Mutation SNP T T C TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr2:74754072T>C ENST00000377526.3 - 11 1501 c.1192A>G c.(1192-1194)Aga>Gga p.R398G NM_181575.3 NP_853553.1 Q9Y679 AUP1_HUMAN ancient ubiquitous protein 1 464 CUE. endoplasmic reticulum membrane|integral to membrane|nucleus protein binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 11 CCTCACCTTCTTGCGTATTCA 0.507000 32 55 0 0 0.004289 0 0 SOBP 55084 broad.mit.edu 37 6 107956480 107956480 + Missense_Mutation SNP A A G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr6:107956480A>G ENST00000317357.5 + 6 3091 c.2432A>G c.(2431-2433)gAc>gGc p.D811G SOBP_ENST00000494935.1_3'UTR NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 811 metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) AACCCCGCGGACGAGGACCAT 0.647000 16 46 0 0 0.004990 0 0 PRKCG 5582 broad.mit.edu 37 19 54395868 54395868 + Silent SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr19:54395868G>A ENST00000263431.3 + 7 1074 c.792G>A c.(790-792)tcG>tcA p.S264S PRKCG_ENST00000536044.1_Silent_p.S264S|PRKCG_ENST00000540413.1_Silent_p.S264S|PRKCG_ENST00000542049.1_Silent_p.S151S NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 264 activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) TTGGCGTCTCGGAGCTGCTCA 0.642000 7 9 0 0 0.001984 0 0 MCM3AP 8888 broad.mit.edu 37 21 47704324 47704324 + Missense_Mutation SNP T T C TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr21:47704324T>C ENST00000397708.1 - 2 1131 c.877A>G c.(877-879)Agg>Ggg p.R293G MCM3AP_ENST00000291688.1_Missense_Mutation_p.R293G O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 293 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) TCCTCCTTCCTTTTCAGTCCT 0.572000 31 64 0 0 0.002836 0 0 RABGAP1L 9910 broad.mit.edu 37 1 174671345 174671345 + Missense_Mutation SNP A A T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr1:174671345A>T ENST00000251507.4 + 17 2294 c.2120A>T c.(2119-2121)aAg>aTg p.K707M RABGAP1L_ENST00000367687.1_Missense_Mutation_p.K33M|RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000325589.5_Missense_Mutation_p.K14M|RABGAP1L_ENST00000347255.2_Missense_Mutation_p.K34M NM_014857.4 NP_055672.3 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like 707 Rab-GAP TBC. regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2) 45 TTTACTGCCAAGTTCCCACTC 0.428000 7 52 0 0 0.001984 0 0 NEB 4703 broad.mit.edu 37 2 152426612 152426612 + Missense_Mutation SNP A A C TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr2:152426612A>C ENST00000427231.2 - 109 17615 c.17413T>G c.(17413-17415)Tac>Gac p.Y5805D NEB_ENST00000397345.3_Missense_Mutation_p.Y5805D|NEB_ENST00000172853.10_Missense_Mutation_p.Y4104D|NEB_ENST00000409198.1_Missense_Mutation_p.Y4104D|NEB_ENST00000604864.1_Missense_Mutation_p.Y5805D|NEB_ENST00000603639.1_Missense_Mutation_p.Y5805D NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 5824 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) TGCAGTTCGTAGGCCTTCTTG 0.507000 2 9 0 0 0.004672 0 0 KPRP 448834 broad.mit.edu 37 1 152732431 152732431 + Missense_Mutation SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr1:152732431G>A ENST00000368773.1 + 2 425 c.367G>A c.(367-369)Gaa>Aaa p.E123K KPRP_ENST00000606109.1_Missense_Mutation_p.E123K NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 123 Gln-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CGTGCAGTGCGAAGCGTCACA 0.493000 57 116 0 0 0.003610 0 0 IGLV2-28 28812 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 4 16 0.000602214 0.00129708 0.000602 1 0 OR11H6 122748 broad.mit.edu 37 14 20692287 20692287 + Missense_Mutation SNP G G A rs146448571 TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr14:20692287G>A ENST00000315519.2 + 1 497 c.419G>A c.(418-420)cGg>cAg p.R140Q NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R140Q(1) 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) GCTTATGATCGGTACCTGGCC 0.428000 10 81 0 0 0.008291 0 0 MUC5B 727897 broad.mit.edu 37 11 1270883 1270883 + Missense_Mutation SNP C C G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr11:1270883C>G ENST00000447027.1 + 31 12840 c.12782C>G c.(12781-12783)aCt>aGt p.T4261S MUC5B_ENST00000529681.1_Missense_Mutation_p.T4258S|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4258 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACAACAGCCACTACGACTGCA 0.677000 4 63 0 0 0.000602 0 0 XRN2 22803 broad.mit.edu 37 20 21328869 21328869 + Missense_Mutation SNP A A C TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr20:21328869A>C ENST00000377191.3 + 18 1846 c.1751A>C c.(1750-1752)gAt>gCt p.D584A XRN2_ENST00000430571.2_Missense_Mutation_p.D508A|XRN2_ENST00000539513.1_Missense_Mutation_p.D530A NM_012255.3 NP_036387.2 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 584 D -> E (in Ref. 1; AAD55138). cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5) 39 ATGCCATCTGATTTTGAGAAG 0.348000 5 49 0 0 0.001168 0 0 CHRNB3 1142 broad.mit.edu 37 8 42587173 42587173 + Silent SNP C C A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr8:42587173C>A ENST00000289957.2 + 5 851 c.723C>A c.(721-723)atC>atA p.I241I NM_000749.3 NP_000740.1 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 3 (neuronal) 241 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) TCTTTCTCATCATCCCCTGCC 0.468000 26 49 3.73988e-18 8.52345e-18 0.006320 1 0 SPATA7 55812 broad.mit.edu 37 14 88892892 88892892 + Missense_Mutation SNP C C G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr14:88892892C>G ENST00000556553.1 + 6 1152 c.593C>G c.(592-594)tCt>tGt p.S198C SPATA7_ENST00000393545.4_Missense_Mutation_p.S230C|SPATA7_ENST00000045347.7_Missense_Mutation_p.S230C|SPATA7_ENST00000356583.5_Missense_Mutation_p.S198C Q9P0W8 SPAT7_HUMAN spermatogenesis associated 7 230 response to stimulus|visual perception cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 18 GATAAACATTCTGAACTCTTT 0.428000 15 51 0 0 0.003163 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102502847 102502847 + Silent SNP C C A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr14:102502847C>A ENST00000360184.4 + 57 10940 c.10776C>A c.(10774-10776)ccC>ccA p.P3592P DYNC1H1_ENST00000556791.1_3'UTR|RP11-1017G21.4_ENST00000557551.1_RNA NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 3592 AAA 5 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TCATTGACCCCTCTGGACAGG 0.488000 13 67 0.00185496 0.00386778 0.001855 1 0 LRRN4 164312 broad.mit.edu 37 20 6031559 6031559 + Silent SNP C C T rs149005401 byFrequency TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr20:6031559C>T ENST00000378858.4 - 3 950 c.726G>A c.(724-726)acG>acA p.T242T NM_152611.4 NP_689824.2 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 242 integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 CCTCCAGGGTCGTCAGCCGAG 0.552000 10 21 0 0 0.008291 0 0 BTBD1 53339 broad.mit.edu 37 15 83710628 83710628 + Silent SNP A A G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr15:83710628A>G ENST00000261721.4 - 4 916 c.714T>C c.(712-714)agT>agC p.S238S RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000379403.2_Silent_p.S238S|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA NM_001011885.1|NM_025238.3 NP_001011885.1|NP_079514.1 Q9H0C5 BTBD1_HUMAN BTB (POZ) domain containing 1 238 cytoplasmic mRNA processing body|protein complex protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 10 all cancers(203;0.000186) CAAAAAGTCGACTTTCTCGAA 0.373000 18 39 0 0 0.008871 0 0 FAM135B 51059 broad.mit.edu 37 8 139164397 139164397 + Missense_Mutation SNP G G T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr8:139164397G>T ENST00000395297.1 - 13 2491 c.2321C>A c.(2320-2322)cCc>cAc p.P774H NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 774 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ACTGATGTGGGGAGCAGATAC 0.522000 HNSCC(54;0.14) 8 99 1.58986e-06 3.50127e-06 0.008291 1 0 AP4M1 9179 broad.mit.edu 37 7 99703604 99703604 + Nonsense_Mutation SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr7:99703604C>T ENST00000429084.1 + 12 1131 c.973C>T c.(973-975)Cga>Tga p.R325* AP4M1_ENST00000359593.4_Nonsense_Mutation_p.R318*|AP4M1_ENST00000422582.1_Nonsense_Mutation_p.R190*|AP4M1_ENST00000421755.1_Nonsense_Mutation_p.R318* O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit 318 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|coated pit|Golgi trans cisterna transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCTAAAGTTGCGATGTGACCT 0.552000 10 106 0 0 0.008291 0 0 CRTAM 56253 broad.mit.edu 37 11 122733161 122733161 + Silent SNP C C A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr11:122733161C>A ENST00000533709.1 + 1 151 c.45C>A c.(43-45)tcC>tcA p.S15S CRTAM_ENST00000227348.4_Intron O95727 CRTAM_HUMAN cytotoxic and regulatory T cell molecule 215 cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target integral to membrane|plasma membrane receptor binding breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1) 19 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) TTTGTTTTTCCCCTTTCCTAG 0.438000 20 49 1.00905e-13 2.27326e-13 0.008871 1 0 PLEKHA8 84725 broad.mit.edu 37 7 30113748 30113748 + Splice_Site SNP G G T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr7:30113748G>T ENST00000449726.1 + 13 1712 c.1362_splice c.e13+1 p.A454_splice PLEKHA8_ENST00000258679.7_Intron|PLEKHA8_ENST00000396259.1_Intron|PLEKHA8_ENST00000396257.2_Splice_Site_p.A454_splice|AC007285.7_ENST00000433088.1_RNA NM_001197027.1 NP_001183956.1 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 454 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 GGGTTTTTGCGGTAAGTGATC 0.403000 10 11 0.00136819 0.00288351 0.001368 1 0 LRP2 4036 broad.mit.edu 37 2 170099508 170099508 + Missense_Mutation SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr2:170099508C>T ENST00000263816.3 - 24 3910 c.3625G>A c.(3625-3627)Ggt>Agt p.G1209S LRP2_ENST00000443831.1_Missense_Mutation_p.G1072S NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1209 LDL-receptor class A 12. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCAAAAACACCATCACAACGA 0.398000 16 106 0 0 0.004007 0 0 ABCA9 10350 broad.mit.edu 37 17 67020425 67020425 + Silent SNP G G T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr17:67020425G>T ENST00000340001.4 - 17 2422 c.2211C>A c.(2209-2211)gcC>gcA p.A737A ABCA9_ENST00000370732.2_Silent_p.A737A|ABCA9_ENST00000453985.2_Silent_p.A737A NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 737 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) CTGTCAATTTGGCATCAGAGA 0.323000 6 15 0.00116845 0.0024893 0.001168 1 0 CDK5RAP2 55755 broad.mit.edu 37 9 123239729 123239729 + Splice_Site SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr9:123239729C>T ENST00000349780.4 - 15 1806 c.e15-1 CDK5RAP2_ENST00000360822.3_Splice_Site|CDK5RAP2_ENST00000360190.4_Splice_Site|CDK5RAP2_ENST00000359309.3_Splice_Site NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 GTTTCTTTTCCTGGAAATGAC 0.358000 OREG0019439 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 60 0 0 0.003163 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136993 40136993 + Missense_Mutation SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr11:40136993G>A ENST00000278198.2 - 2 2813 c.850C>T c.(850-852)Cat>Tat p.H284Y LRRC4C_ENST00000528697.1_Missense_Mutation_p.H284Y|LRRC4C_ENST00000530763.1_Missense_Mutation_p.H284Y|LRRC4C_ENST00000527150.1_Missense_Mutation_p.H284Y Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 284 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) AAGAGGTCATGAGGCAGTAAT 0.443000 37 58 0 0 0.006999 0 0 MAP7D2 256714 broad.mit.edu 37 X 20043130 20043130 + Missense_Mutation SNP G G T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chrX:20043130G>T ENST00000379651.3 - 9 1246 c.1228C>A c.(1228-1230)Cag>Aag p.Q410K MAP7D2_ENST00000543767.1_Missense_Mutation_p.Q295K|MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000452324.3_Missense_Mutation_p.Q358K|MAP7D2_ENST00000443379.3_Missense_Mutation_p.Q365K|MAP7D2_ENST00000379643.5_Missense_Mutation_p.Q451K NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 410 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 AGCCGGGCCTGTCTTCTCTTT 0.527000 56 44 3.40343e-31 7.8479e-31 0.003610 1 0 EPX 8288 broad.mit.edu 37 17 56280505 56280505 + Missense_Mutation SNP G G A rs149971221 byFrequency TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr17:56280505G>A ENST00000225371.5 + 11 1882 c.1772G>A c.(1771-1773)cGg>cAg p.R591Q NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 591 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 CAGCTTAGCCGGGTGCTGAAA 0.542000 49 50 0 0 0.003610 0 0 MRPL53 116540 broad.mit.edu 37 2 74699750 74699750 + Missense_Mutation SNP A A G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr2:74699750A>G ENST00000258105.7 - 1 699 c.38T>C c.(37-39)gTc>gCc p.V13A MRPL53_ENST00000409710.1_Missense_Mutation_p.V13A NM_053050.4 NP_444278.1 Q96EL3 RM53_HUMAN mitochondrial ribosomal protein L53 13 mitochondrion|ribosome central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1) 5 AACCTGTTTGACAGGCCGCAG 0.592000 6 56 0 0 0.003080 0 0 CYYR1 116159 broad.mit.edu 37 21 27840862 27840862 + Silent SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr21:27840862C>T ENST00000299340.4 - 4 766 c.423G>A c.(421-423)caG>caA p.Q141Q AP001596.6_ENST00000429340.1_RNA|AP001597.1_ENST00000357401.3_RNA|AP001597.1_ENST00000414486.1_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001596.6_ENST00000421771.1_RNA|AP001596.6_ENST00000444306.1_RNA NM_052954.2 NP_443186.1 Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 141 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 GTGGAGAACGCTGTGCTGGAC 0.532000 5 41 0 0 0.000602 0 0 SGPL1 8879 broad.mit.edu 37 10 72636950 72636950 + Splice_Site SNP A A G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr10:72636950A>G ENST00000373202.3 + 15 1766 c.e15-1 NM_003901.3 NP_003892.2 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity large_intestine(4) 4 Pyridoxal Phosphate(DB00114) TTGGATTTGTAGGGTGCCATC 0.483000 3 29 0 0 0.004672 0 0 SLC5A2 6524 broad.mit.edu 37 16 31500299 31500299 + Missense_Mutation SNP C C G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr16:31500299C>G ENST00000330498.3 + 11 1398 c.1379C>G c.(1378-1380)tCt>tGt p.S460C NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 460 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 CAGGCAGTCTCTAGCTACCTG 0.662000 10 18 0 0 0.006214 0 0 DZIP3 9666 broad.mit.edu 37 3 108355484 108355484 + Missense_Mutation SNP T T A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr3:108355484T>A ENST00000361582.3 + 11 1170 c.940T>A c.(940-942)Ttg>Atg p.L314M DZIP3_ENST00000463306.1_Missense_Mutation_p.L314M NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 314 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 GAAAAAATGTTTGAAGGAAGG 0.274000 8 111 0 0 0.008291 0 0 SUSD1 64420 broad.mit.edu 37 9 114911525 114911525 + Splice_Site SNP T T A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr9:114911525T>A ENST00000374270.3 - 3 544 c.373_splice c.e3+1 p.T124_splice SUSD1_ENST00000374264.2_Splice_Site_p.T124_splice|SUSD1_ENST00000374263.3_Splice_Site_p.T124_splice NM_022486.3 NP_071931.2 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 124 integral to membrane calcium ion binding SUSD1/ROD1(2) central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 CTTGAGTACCTGTACAAAAGG 0.458000 39 211 0 0 0.002222 0 0 POLR2H 5437 broad.mit.edu 37 3 184082973 184082998 + Frame_Shift_Del DEL GGATGATGGTGAATACAACCCCACTG GGATGATGGTGAATACAACCCCACTG - rs112012928 TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr3:184082973_184082998delGGATGATGGTGAATACAACCCCACTG ENST00000456318.1 + 4 1259_1284 c.210_235delGGATGATGGTGAATACAACCCCACTG c.(208-237)ctatfs p.LDDGEYNPTD70fs POLR2H_ENST00000429568.1_Frame_Shift_Del_p.LDDGEYNPTD70fs|POLR2H_ENST00000430783.1_Frame_Shift_Del_p.LDDGEYNPTD70fs|POLR2H_ENST00000296223.3_Frame_Shift_Del_p.LDDGEYNPTD70fs|POLR2H_ENST00000443489.1_Frame_Shift_Del_p.LDDGEYNPTD34fs|POLR2H_ENST00000438240.1_Frame_Shift_Del_p.LDDGEYNPTD34fs|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000452961.1_Frame_Shift_Del_p.LDDGEYNPTD34fs NM_001278699.1 NP_001265628.1 P52434 RPAB3_HUMAN polymerase (RNA) II (DNA directed) polypeptide H 70 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex|nucleolus DNA-directed RNA polymerase activity|protein binding|zinc ion binding p.P77P(1)|p.N76N(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ATGGTACCCTGGATGATGGTGAATACAACCCCACTGATGATAGGCC 0.407 9 141 --- --- --- --- RP11-608O21.1 0 broad.mit.edu 37 4 19815895 19815895 + RNA DEL A A - rs145239076 TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr4:19815895delA ENST00000511431.1 + 0 288 TCTGGGCTGTaaaaaaaaaaa 0.413 2 4 --- --- --- --- HLA-DRB1 3123 broad.mit.edu 37 6 32557568 32557569 + Translation_Start_Site INS - - AT rs17204758 TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr6:32557568_32557569insAT ENST00000360004.5 - 0 56_57 NM_002124.3 NP_002115.2 major histocompatibility complex, class II, DR beta 1 large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1) 10 GCAAGTCTCACTCAGGGAGAAC 0.540 Multiple Myeloma(14;0.17) 2 4 --- --- --- --- LEMD2 221496 broad.mit.edu 37 6 33744932 33744933 + Frame_Shift_Ins INS - - TC TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr6:33744932_33744933insTC ENST00000293760.5 - 7 1259_1260 c.1240_1241insGA c.(1240-1242)ggtfs p.G414fs LEMD2_ENST00000508327.1_Frame_Shift_Ins_p.G112fs|LEMD2_ENST00000502643.1_5'UTR NM_181336.3 NP_851853.1 Q8NC56 LEMD2_HUMAN LEM domain containing 2 414 integral to nuclear inner membrane central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1) 9 CTTCTTCACCATCTCATACATG 0.510 32 193 --- --- --- --- RSPH3 83861 broad.mit.edu 37 6 159403578 159403579 + Frame_Shift_Ins INS - - TC TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr6:159403578_159403579insTC ENST00000367069.2 - 5 1270_1271 c.634_635insGA c.(634-636)tagfs p.*212fs RSPH3_ENST00000297262.3_Frame_Shift_Ins_p.*258fs|RSPH3_ENST00000449822.1_Frame_Shift_Ins_p.*116fs|RSPH3_ENST00000252655.1_Frame_Shift_Ins_p.*354fs Q86UC2 RSPH3_HUMAN radial spoke 3 homolog (Chlamydomonas) 354 endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7) 23 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) ACGTTCACTATTCCGTAGTTCT 0.431 12 68 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110460576 110460576 + Frame_Shift_Del DEL T T - TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr8:110460576delT ENST00000378402.5 + 39 6085 c.5981delT c.(5980-5982)gafs p.V1994fs NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1994 IPT/TIG 12. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TCCACAGTTGTATTTGAGTAC 0.393 HNSCC(38;0.096) 8 32 --- --- --- --- FAM166B 730112 broad.mit.edu 37 9 35562439 35562439 + Frame_Shift_Del DEL G G - rs77185976 byFrequency TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr9:35562439delG ENST00000399742.2 - 5 747 c.677delC c.(676-678)cafs p.P226fs FAM166B_ENST00000492890.1_5'UTR NM_001099951.2|NM_001164310.1 NP_001093421.1|NP_001157782.1 A8MTA8 F166B_HUMAN family with sequence similarity 166, member B 226 kidney(3)|large_intestine(1)|lung(4)|ovary(1) 9 TCTGGGAAGTGGGGGGAGATG 0.582 2 4 --- --- --- --- RP11-445N18.5 0 broad.mit.edu 37 10 45672586 45672586 + RNA DEL T T - TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr10:45672586delT ENST00000422807.1 - 0 346 TCAAAGGGAATCCAAAAGTCT 0.343 2 4 --- --- --- --- CORO1B 57175 broad.mit.edu 37 11 67209168 67209168 + Frame_Shift_Del DEL G G - TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr11:67209168delG ENST00000545016.1 - 4 575 c.490delC c.(490-492)acfs p.H164fs CORO1B_ENST00000453768.2_Intron|CORO1B_ENST00000393893.1_Intron|CORO1B_ENST00000341356.5_Intron Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 0 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) AGGGGTCCGTGGGGGGGGGGA 0.657 3 5 --- --- --- --- AR 367 broad.mit.edu 37 X 66765243 66765245 + In_Frame_Del DEL GCA GCA - TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chrX:66765243_66765245delGCA ENST00000374690.3 + 1 779_781 c.255_257delGCA c.(253-258)agg>ag p.RQ85del AR_ENST00000396044.3_In_Frame_Del_p.RQ85del|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_In_Frame_Del_p.RQ85del NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 83 Gln-rich.|Modulating.|Poly-Gln. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) ctagccccaggcagcagcagcag 0.631 Androgen Insensitivity Syndrome 3 5 --- --- --- ---