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 SMC2 10592 broad.mit.edu 37 9 106876287 106876287 + Missense_Mutation SNP C C G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr9:106876287C>G ENST00000286398.7 + 12 1745 c.1457C>G c.(1456-1458)tCt>tGt p.S486C SMC2_ENST00000303219.8_Missense_Mutation_p.S486C|SMC2_ENST00000374787.3_Missense_Mutation_p.S486C|SMC2_ENST00000374793.3_Missense_Mutation_p.S486C NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 486 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 AGGCAGCTGTCTCGTGATATT 0.338000 9 109 0 0 0.047766 0 0 MYO10 4651 broad.mit.edu 37 5 16699587 16699587 + Silent SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr5:16699587C>T ENST00000513610.1 - 26 3982 c.3528G>A c.(3526-3528)ccG>ccA p.P1176P MYO10_ENST00000505695.1_Silent_p.P515P|MYO10_ENST00000427430.2_Silent_p.P533P|MYO10_ENST00000274203.9_Silent_p.P533P|MYO10_ENST00000515803.1_Silent_p.P515P NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1176 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 TGTGGAAATACGGCAGAGTGA 0.488000 12 54 0 0 0.105934 0 0 FAT3 120114 broad.mit.edu 37 11 92534203 92534203 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr11:92534203C>T ENST00000298047.6 + 9 8041 c.8024C>T c.(8023-8025)tCg>tTg p.S2675L FAT3_ENST00000525166.1_Missense_Mutation_p.S2525L|FAT3_ENST00000409404.2_Missense_Mutation_p.S2675L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2675 Cadherin 24. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACAGTGCTTTCGTTCTTTGTC 0.483000 TCGA Ovarian(4;0.039) 3 27 0 0 0.115264 0 0 CTPS2 56474 broad.mit.edu 37 X 16717205 16717205 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chrX:16717205C>T ENST00000443824.1 - 3 921 c.178G>A c.(178-180)Gtc>Atc p.V60I CTPS2_ENST00000380241.3_Missense_Mutation_p.V60I|CTPS2_ENST00000359276.4_Missense_Mutation_p.V60I NM_001144002.1 NP_001137474.1 Q9NRF8 PYRG2_HUMAN CTP synthase 2 60 glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process cytosol ATP binding|CTP synthase activity breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Hepatocellular(33;0.0997) TCATTTAAGACGAAGACTTCA 0.313000 19 76 0 0 0.055883 0 0 KBTBD6 89890 broad.mit.edu 37 13 41705374 41705374 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr13:41705374C>T ENST00000379485.1 - 1 1508 c.1274G>A c.(1273-1275)cGt>cAt p.R425H KBTBD6_ENST00000499385.2_Missense_Mutation_p.R359H NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 425 protein binding NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CATGCCCTCACGACACAGCAA 0.483000 19 118 0 0 0.175082 0 0 BFAR 51283 broad.mit.edu 37 16 14761536 14761536 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr16:14761536C>T ENST00000261658.2 + 8 1482 c.1205C>T c.(1204-1206)aCg>aTg p.T402M BFAR_ENST00000563082.1_3'UTR|BFAR_ENST00000426842.2_Missense_Mutation_p.T274M|BFAR_ENST00000563971.1_Missense_Mutation_p.T277M NM_016561.2 NP_057645.1 Q9NZS9 BFAR_HUMAN bifunctional apoptosis regulator 402 anti-apoptosis|apoptosis endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction structural molecule activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 11 AAAGTATCAACGCAGGGGCTT 0.488000 14 47 0 0 0.132662 0 0 PCDHB11 56125 broad.mit.edu 37 5 140581715 140581715 + Nonsense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr5:140581715C>T ENST00000354757.3 + 1 2368 c.2368C>T c.(2368-2370)Cga>Tga p.R790* PCDHB11_ENST00000536699.1_Nonsense_Mutation_p.R425* NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 790 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCCACCTTTCGAAATAGCTT 0.323000 3 25 0 0 0.115264 0 0 SDHA 6389 broad.mit.edu 37 5 236581 236581 + Silent SNP C C T rs144473374 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr5:236581C>T ENST00000264932.6 + 10 1414 c.1299C>T c.(1297-1299)ccC>ccT p.P433P SDHA_ENST00000510361.1_Silent_p.P385P|SDHA_ENST00000504309.1_Silent_p.P433P NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 433 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) AGATTGTGCCCGGCCTGTACG 0.602000 Familial Paragangliomas 7 23 0 0 0.069234 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70712712 70712712 + RNA SNP A A T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr14:70712712A>T ENST00000530196.1 - 0 1806 NR_003951.1 AAGACATCAGAGATATGACAT 0.383000 13 71 0 0 0.055883 0 0 PTCHD1 139411 broad.mit.edu 37 X 23412133 23412133 + Missense_Mutation SNP T T A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chrX:23412133T>A ENST00000379361.4 + 3 3358 c.2498T>A c.(2497-2499)gTc>gAc p.V833D NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 833 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 ATAGCATTTGTCACCTTCTTT 0.423000 5 71 0 0 0.014758 0 0 SLC6A2 6530 broad.mit.edu 37 16 55690765 55690765 + Silent SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr16:55690765G>A ENST00000379906.2 + 1 414 c.159G>A c.(157-159)gcG>gcA p.A53A SLC6A2_ENST00000414754.3_Silent_p.A53A|SLC6A2_ENST00000219833.8_Silent_p.A53A|SLC6A2_ENST00000561820.1_Silent_p.A53A|SLC6A2_ENST00000568943.1_Silent_p.A53A|SLC6A2_ENST00000566163.1_Silent_p.A53A NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 53 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity p.A53A(2) breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) ACGGCGACGCGCAGCCCCGGG 0.682000 15 51 0 0 0.132662 0 0 MAST2 23139 broad.mit.edu 37 1 46497165 46497165 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:46497165C>T ENST00000361297.2 + 24 3378 c.3095C>T c.(3094-3096)tCt>tTt p.S1032F MAST2_ENST00000372008.1_Intron|MAST2_ENST00000372009.2_Missense_Mutation_p.S962F NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 1032 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CGGCTGCTCTCTGGGGACTCA 0.637000 6 15 0 0 0.047766 0 0 FREM1 158326 broad.mit.edu 37 9 14848754 14848754 + Silent SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr9:14848754G>A ENST00000380881.4 - 8 1988 c.1173C>T c.(1171-1173)taC>taT p.Y391Y FREM1_ENST00000422223.2_Silent_p.Y390Y|FREM1_ENST00000380880.3_Silent_p.Y390Y Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 390 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) AGAAGAAGTCGTATACCTCCA 0.453000 21 37 0 0 0.062417 0 0 LOXL4 84171 broad.mit.edu 37 10 100013452 100013452 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr10:100013452G>A ENST00000260702.3 - 11 1843 c.1693C>T c.(1693-1695)Ctc>Ttc p.L565F RP11-34A14.3_ENST00000433374.1_RNA NM_032211.6 NP_115587.6 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 565 Lysyl-oxidase like. extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2) 26 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) GACTTGGAGAGGCAGTTCTCC 0.597000 5 29 0 0 0.014758 0 0 F13A1 2162 broad.mit.edu 37 6 6305708 6305708 + Silent SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr6:6305708G>A ENST00000264870.3 - 3 460 c.195C>T c.(193-195)caC>caT p.H65H NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 65 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TGTCAGTGTGGTGGTCCACCT 0.438000 15 38 0 0 0.132662 0 0 MMS22L 253714 broad.mit.edu 37 6 97634528 97634528 + Missense_Mutation SNP T T C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr6:97634528T>C ENST00000275053.4 - 15 2343 c.2078A>G c.(2077-2079)gAc>gGc p.D693G MMS22L_ENST00000369251.2_Missense_Mutation_p.D653G NM_198468.2 NP_940870.2 Q6ZRQ5 MMS22_HUMAN MMS22-like, DNA repair protein 693 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 50 GTCCACATTGTCCCTTTGAAG 0.373000 13 49 0 0 0.105934 0 0 DLD 1738 broad.mit.edu 37 7 107557789 107557789 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr7:107557789G>A ENST00000205402.5 + 11 1399 c.1118G>A c.(1117-1119)tGt>tAt p.C373Y DLD_ENST00000440410.1_Missense_Mutation_p.C350Y|DLD_ENST00000537148.1_Missense_Mutation_p.C274Y|DLD_ENST00000437604.2_Missense_Mutation_p.C325Y NM_000108.3 NP_000099.2 P09622 DLDH_HUMAN dihydrolipoamide dehydrogenase 373 branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle mitochondrial matrix dihydrolipoyl dehydrogenase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1) 20 NADH(DB00157) GGCATTATCTGTGTTGAAGGA 0.443000 18 44 0 0 0.043863 0 0 DSP 1832 broad.mit.edu 37 6 7583731 7583731 + Missense_Mutation SNP A A C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr6:7583731A>C ENST00000379802.3 + 24 6577 c.6236A>C c.(6235-6237)gAc>gCc p.D2079A DSP_ENST00000418664.2_Missense_Mutation_p.D1480A NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2079 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GACCTCATTGACTTCGATGAC 0.478000 12 116 0 0 0.093190 0 0 HEY1 23462 broad.mit.edu 37 8 80679298 80679298 + Silent SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr8:80679298G>A ENST00000337919.5 - 3 388 c.195C>T c.(193-195)atC>atT p.I65I HEY1_ENST00000354724.3_Silent_p.I65I NM_001040708.1 NP_001035798.1 Q9Y5J3 HEY1_HUMAN hes-related family bHLH transcription factor with YRPW motif 1 65 Helix-loop-helix motif.|Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity). angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent nucleus DNA binding|protein binding HEY1/NCOA2(10) cervix(1)|kidney(2)|large_intestine(5)|lung(14) 22 all_lung(9;5.1e-05) Epithelial(68;0.076)|all cancers(69;0.179) AACTGTTATTGATCCGGTCTC 0.438000 T NCOA2 mesenchymal chondrosarcoma 7 109 0 0 0.038147 0 0 FBN1 2200 broad.mit.edu 37 15 48791196 48791196 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr15:48791196G>A ENST00000316623.5 - 18 2608 c.2153C>T c.(2152-2154)aCg>aTg p.T718M NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 718 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GCCTGCTGACGTCATTCCTGG 0.458000 26 76 0 0 0.144211 0 0 C4B 721 broad.mit.edu 37 6 31997026 31997026 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr6:31997026C>T ENST00000435363.2 + 28 3671 c.3587C>T c.(3586-3588)aCg>aTg p.T1196M C4B_ENST00000425700.2_Missense_Mutation_p.T1196M NM_001002029.3 NP_001002029.3 P0C0L5 CO4B_HUMAN complement component 4B (Chido blood group) 1196 complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity GCTGCCATCACGGCCTATGCC 0.607000 3 22 0 0 0.115264 0 0 LINC01410 103352539 broad.mit.edu 37 9 66459813 66459813 + RNA SNP G G A rs10752517 by1000genomes TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr9:66459813G>A ENST00000424345.1 + 0 73 tccaggatttgtccccagtgc 0.343000 3 17 0 0 0.115264 0 0 GALNT3 2591 broad.mit.edu 37 2 166611208 166611208 + Missense_Mutation SNP C C G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:166611208C>G ENST00000392701.3 - 9 2330 c.1555G>C c.(1555-1557)Gat>Cat p.D519H GALNT3_ENST00000409882.1_Missense_Mutation_p.D257H NM_004482.3 NP_004473.2 Q14435 GALT3_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) 519 Ricin B-type lectin. protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1) 20 TCTCCAACATCCAGACATAGA 0.318000 4 19 0 0 0.150653 0 0 ZNF607 84775 broad.mit.edu 37 19 38190779 38190779 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr19:38190779C>T ENST00000355202.4 - 5 848 c.253G>A c.(253-255)Gaa>Aaa p.E85K CTD-2528L19.4_ENST00000586606.2_Missense_Mutation_p.E85K|ZNF607_ENST00000395835.3_Missense_Mutation_p.E84K NM_032689.4 NP_116078.4 Q96SK3 ZN607_HUMAN zinc finger protein 607 85 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) CTGATTATTTCACATCTTGAA 0.313000 3 20 0 0 0.115264 0 0 SYNE1 23345 broad.mit.edu 37 6 152718022 152718022 + Missense_Mutation SNP C C A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr6:152718022C>A ENST00000367255.5 - 50 8045 c.7444G>T c.(7444-7446)Gtc>Ttc p.V2482F SYNE1_ENST00000341594.5_Missense_Mutation_p.V2521F|SYNE1_ENST00000448038.1_Missense_Mutation_p.V2489F|SYNE1_ENST00000265368.4_Missense_Mutation_p.V2482F|SYNE1_ENST00000423061.1_Missense_Mutation_p.V2489F NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2482 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATGCTACTGACAATTTGTTTA 0.393000 HNSCC(10;0.0054) 9 58 1.12685e-05 1.22579e-05 0.047766 1 0 CYB5RL 606495 broad.mit.edu 37 1 54661235 54661235 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:54661235G>A ENST00000419823.2 - 2 279 c.55C>T c.(55-57)Cgg>Tgg p.R19W CYB5RL_ENST00000542737.1_Missense_Mutation_p.R19W|CYB5RL_ENST00000534324.1_Missense_Mutation_p.R19W|CYB5RL_ENST00000497820.1_Missense_Mutation_p.R19W|CYB5RL_ENST00000537208.1_Missense_Mutation_p.R19W|MRPL37_ENST00000487096.1_Intron|CYB5RL_ENST00000401046.3_De_novo_Start_InFrame|RP11-446E24.4_ENST00000311841.7_Missense_Mutation_p.R19W|CYB5RL_ENST00000287899.8_Missense_Mutation_p.R19W NM_001031672.2 NP_001026842.2 Q6IPT4 NB5R5_HUMAN cytochrome b5 reductase-like 19 cytochrome-b5 reductase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1) 8 TCTGTGGGCCGTAGCTGCATC 0.597000 27 71 0 0 0.144211 0 0 FBXW7 55294 broad.mit.edu 37 4 153249384 153249384 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr4:153249384C>T ENST00000281708.4 - 9 2623 c.1394G>A c.(1393-1395)cGt>cAt p.R465H FBXW7_ENST00000263981.5_Missense_Mutation_p.R385H|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289H|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465H|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347H|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465H NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 465 R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R465H(69)|p.R385H(16)|p.R226H(16)|p.R465L(4)|p.R347H(4)|p.R465Y(2)|p.?(1)|p.R385L(1)|p.R226L(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) ATGCATACAACGCACAGTGGA 0.408000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 22 144 0 0 0.076483 0 0 ALAD 210 broad.mit.edu 37 9 116151291 116151291 + Silent SNP G G C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr9:116151291G>C ENST00000409155.3 - 11 1093 c.897C>G c.(895-897)gcC>gcG p.A299A ALAD_ENST00000277315.5_Silent_p.A282A NM_000031.5 NP_000022.3 P13716 HEM2_HUMAN aminolevulinate dehydratase 299 heme biosynthetic process|protein homooligomerization cytosol identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding p.A328A(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1) 9 Aminolevulinic acid(DB00855) CCTCCAGTACGGCAGCCTTGA 0.602000 3 13 0 0 0.150653 0 0 NEIL3 55247 broad.mit.edu 37 4 178260967 178260967 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr4:178260967C>T ENST00000264596.3 + 5 776 c.658C>T c.(658-660)Cac>Tac p.H220Y NM_018248.2 NP_060718.2 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 (E. coli) 220 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) ACAGATCCATCACCTCATGAA 0.353000 Base excision repair (BER), DNA glycosylases 4 28 0 0 0.014758 0 0 CDH10 1008 broad.mit.edu 37 5 24593560 24593560 + Missense_Mutation SNP C C G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr5:24593560C>G ENST00000264463.4 - 2 547 c.40G>C c.(40-42)Gta>Cta p.V14L RP11-116O11.1_ENST00000510391.1_RNA NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 14 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GGCAGGCATACCCAGAATAGA 0.413000 HNSCC(23;0.051) 10 62 0 0 0.069234 0 0 ZNF260 339324 broad.mit.edu 37 19 37005579 37005579 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr19:37005579C>T ENST00000523638.1 - 3 1683 c.562G>A c.(562-564)Gga>Aga p.G188R ZNF260_ENST00000588993.1_Missense_Mutation_p.G188R|ZNF260_ENST00000592282.1_Missense_Mutation_p.G188R|ZNF260_ENST00000593142.1_Missense_Mutation_p.G188R NM_001166036.1|NM_001166037.1|NM_001166038.1 NP_001159508.1|NP_001159509.1|NP_001159510.1 Q3ZCT1 ZN260_HUMAN zinc finger protein 260 188 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8) 15 Esophageal squamous(110;0.162) GGCTTCTTTCCAGTATGGATG 0.378000 23 46 0 0 0.076483 0 0 PTPRE 5791 broad.mit.edu 37 10 129861400 129861400 + Missense_Mutation SNP T T C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr10:129861400T>C ENST00000254667.3 + 10 958 c.679T>C c.(679-681)Tct>Cct p.S227P PTPRE_ENST00000419012.2_Missense_Mutation_p.S227P|PTPRE_ENST00000306042.5_Missense_Mutation_p.S169P|PTPRE_ENST00000430713.2_3'UTR NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 227 Tyrosine-protein phosphatase 1. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) GGAGCAAAAGTCTGCGACCAT 0.498000 13 39 0 0 0.105934 0 0 CARD6 84674 broad.mit.edu 37 5 40853691 40853691 + Missense_Mutation SNP A A T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr5:40853691A>T ENST00000254691.5 + 3 2456 c.2257A>T c.(2257-2259)Atg>Ttg p.M753L CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 753 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 CTCCTGGGTTATGGGCCGCCC 0.507000 36 238 0 0 0.086207 0 0 LDLRAP1 26119 broad.mit.edu 37 1 25881403 25881403 + Missense_Mutation SNP G G A rs139877665 byFrequency TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:25881403G>A ENST00000374338.4 + 3 403 c.284G>A c.(283-285)cGg>cAg p.R95Q LDLRAP1_ENST00000488127.1_3'UTR NM_015627.2 NP_056442.2 Q5SW96 ARH_HUMAN low density lipoprotein receptor adaptor protein 1 95 PID. amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1) 9 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649) GTGTCGCCACGGGGAATTATC 0.552000 4 15 0 0 0.150653 0 0 LRP1 4035 broad.mit.edu 37 12 57593171 57593171 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr12:57593171C>T ENST00000243077.3 + 61 10319 c.9853C>T c.(9853-9855)Cgc>Tgc p.R3285C NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3285 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCATGCCCTGCGCCAGCCAGA 0.617000 8 43 0 0 0.093190 0 0 ZNF510 22869 broad.mit.edu 37 9 99522314 99522314 + Missense_Mutation SNP C C A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr9:99522314C>A ENST00000375231.1 - 6 1448 c.798G>T c.(796-798)aaG>aaT p.K266N ZNF510_ENST00000223428.4_Missense_Mutation_p.K266N Q9Y2H8 ZN510_HUMAN zinc finger protein 510 266 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 21 Acute lymphoblastic leukemia(62;0.0527) CACAGTTAGCCTTATCATTAA 0.323000 5 20 0.014758 0.0153071 0.014758 1 0 CD226 10666 broad.mit.edu 37 18 67614224 67614224 + Missense_Mutation SNP C C G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr18:67614224C>G ENST00000280200.4 - 3 396 c.128G>C c.(127-129)gGc>gCc p.G43A CD226_ENST00000577287.1_Intron|CD226_ENST00000581982.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.G43A NM_006566.2 NP_006557.2 Q15762 CD226_HUMAN CD226 molecule 43 Ig-like C2-type 1. cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 24 Esophageal squamous(42;0.129) TGTTAAGATGCCCATTGATGG 0.463000 13 41 0 0 0.093190 0 0 SERTAD4 56256 broad.mit.edu 37 1 210415316 210415316 + Silent SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:210415316G>A ENST00000367012.3 + 4 935 c.705G>A c.(703-705)ttG>ttA p.L235L SERTAD4_ENST00000490620.1_3'UTR NM_019605.3 NP_062551.1 Q9NUC0 SRTD4_HUMAN SERTA domain containing 4 235 Ser-rich. protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) ctccccctTTGCCTTTACCGA 0.493000 4 59 0 0 0.150653 0 0 TRIM3 10612 broad.mit.edu 37 11 6477334 6477334 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr11:6477334C>T ENST00000525074.1 - 7 1895 c.1501G>A c.(1501-1503)Gtg>Atg p.V501M TRIM3_ENST00000537602.1_Missense_Mutation_p.V423M|TRIM3_ENST00000536344.1_Missense_Mutation_p.V382M|TRIM3_ENST00000359518.3_Missense_Mutation_p.V501M|TRIM3_ENST00000345851.3_Missense_Mutation_p.V501M NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 501 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTGCTACCACGATGCGGCCG 0.502000 8 48 0 0 0.080935 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135772779 135772779 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chrX:135772779C>T ENST00000250617.6 - 10 2380 c.1175G>A c.(1174-1176)cGg>cAg p.R392Q ARHGEF6_ENST00000370620.1_Missense_Mutation_p.R238Q|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.R238Q|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.R265Q NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 392 DH. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) CTCCATATGCCGTTCTAACTC 0.473000 11 47 0 0 0.080935 0 0 LOC644669 644669 broad.mit.edu 37 18 15323276 15323276 + RNA SNP A A T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr18:15323276A>T ENST00000455308.2 - 0 572 NR_027417.1 ATCAACTGCAATTGCATTTGC 0.308000 4 5 0 0 0.014758 0 0 FRMPD1 22844 broad.mit.edu 37 9 37746019 37746019 + Silent SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr9:37746019G>A ENST00000539465.1 + 16 4583 c.3990G>A c.(3988-3990)ggG>ggA p.G1330G FRMPD1_ENST00000377765.3_Silent_p.G1330G|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1330 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) CCAGGATAGGGATGGACCAGT 0.567000 43 100 0 0 0.131918 0 0 PIGL 9487 broad.mit.edu 37 17 16203255 16203255 + Missense_Mutation SNP T T G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr17:16203255T>G ENST00000225609.5 + 3 406 c.389T>G c.(388-390)gTc>gGc p.V130G PIGL_ENST00000395844.3_Missense_Mutation_p.V130G|PIGL_ENST00000498772.2_Missense_Mutation_p.V130G|PIGL_ENST00000581006.1_Missense_Mutation_p.V130G NM_004278.3 NP_004269.1 Q9Y2B2 PIGL_HUMAN phosphatidylinositol glycan anchor biosynthesis, class L 130 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane N-acetylglucosaminylphosphatidylinositol deacetylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 11 UCEC - Uterine corpus endometrioid carcinoma (92;0.0934) GTGGCCAGAGTCCTCCTTCAG 0.507000 20 43 0 0 0.043863 0 0 OR52B2 255725 broad.mit.edu 37 11 6191530 6191530 + Silent SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr11:6191530G>A ENST00000530810.1 - 1 108 c.27C>T c.(25-27)ttC>ttT p.F9F RP11-290F24.3_ENST00000529961.1_RNA NM_001004052.1 NP_001004052.1 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, member 2 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGCAGGATGGAAGATGGTAA 0.438000 12 119 0 0 0.105934 0 0 DEFB119 245932 broad.mit.edu 37 20 29965049 29965049 + Nonstop_Mutation SNP T T C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr20:29965049T>C ENST00000376321.3 - 2 374 c.255A>G c.(253-255)tgA>tgG p.*85W DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000339144.3_3'UTR NM_153289.2 NP_695021.2 Q8N690 DB119_HUMAN defensin, beta 119 0 defense response to bacterium extracellular region large_intestine(2)|lung(1)|prostate(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TCACCAGCACTCAAGGTAGTC 0.493000 6 144 0 0 0.021553 0 0 CDC37 11140 broad.mit.edu 37 19 10504047 10504047 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr19:10504047C>T ENST00000222005.2 - 6 850 c.797G>A c.(796-798)cGt>cAt p.R266H NM_007065.3 NP_008996.1 Q16543 CDC37_HUMAN cell division cycle 37 266 protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway unfolded protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06) GBM - Glioblastoma multiforme(1328;0.0318) CAGCTTGGCACGGCCCCGCAC 0.652000 13 80 0 0 0.105934 0 0 PDCD2 5134 broad.mit.edu 37 6 170892657 170892657 + Nonsense_Mutation SNP G G T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr6:170892657G>T ENST00000541970.1 - 2 540 c.462C>A c.(460-462)taC>taA p.Y154* PDCD2_ENST00000443345.2_Nonsense_Mutation_p.Y121*|PDCD2_ENST00000542896.1_Nonsense_Mutation_p.Y154*|PDCD2_ENST00000392090.2_Nonsense_Mutation_p.Y121*|PDCD2_ENST00000537445.1_Nonsense_Mutation_p.Y121*|PDCD2_ENST00000453163.2_Nonsense_Mutation_p.Y154* NM_001199462.1|NM_002598.3 NP_001186391.1|NP_002589.2 Q16342 PDCD2_HUMAN programmed cell death 2 154 apoptosis cytoplasm|nucleus DNA binding|protein binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(1)|lung(5) 9 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142) CCTTGCTGCAGTAATATGCTT 0.478000 10 45 2.17888e-05 2.35869e-05 0.058154 1 0 KIAA0922 23240 broad.mit.edu 37 4 154519861 154519861 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr4:154519861C>T ENST00000409959.3 + 21 2292 c.2243C>T c.(2242-2244)tCc>tTc p.S748F KIAA0922_ENST00000440693.1_Missense_Mutation_p.S664F|KIAA0922_ENST00000409663.3_Missense_Mutation_p.S747F NM_001131007.1 NP_001124479.1 A2VDJ0 T131L_HUMAN KIAA0922 747 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) GTGCCCGAGTCCACGCTGATG 0.483000 5 15 0 0 0.014758 0 0 RXFP3 51289 broad.mit.edu 37 5 33937262 33937262 + Silent SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr5:33937262G>A ENST00000330120.3 + 1 772 c.417G>A c.(415-417)gcG>gcA p.A139A NM_016568.3 NP_057652.1 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 139 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 CCTTCTGGGCGGTGGAGAACG 0.557000 7 36 0 0 0.029380 0 0 DAPK1 1612 broad.mit.edu 37 9 90321154 90321154 + Silent SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr9:90321154G>A ENST00000469640.2 + 27 3618 c.3243G>A c.(3241-3243)gcG>gcA p.A1081A DAPK1_ENST00000408954.3_Silent_p.A1056A|DAPK1_ENST00000358077.5_Silent_p.A1056A|DAPK1_ENST00000472284.1_Silent_p.A1056A|DAPK1_ENST00000491893.1_Silent_p.A990A P53355 DAPK1_HUMAN death-associated protein kinase 1 1056 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 CCCCACGGGCGCTGCACCACT 0.637000 Chronic Lymphocytic Leukemia, Familial Clustering of 4 14 0 0 0.150653 0 0 CCDC39 339829 broad.mit.edu 37 3 180377345 180377345 + Missense_Mutation SNP T T G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr3:180377345T>G ENST00000273654.4 - 12 1504 c.885A>C c.(883-885)caA>caC p.Q295H CCDC39_ENST00000442201.2_Missense_Mutation_p.Q211H Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 211 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TACGAAAATCTTGTGCTGCTT 0.338000 14 58 0 0 0.160694 0 0 CT47B1 643311 broad.mit.edu 37 X 120009284 120009284 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chrX:120009284C>T ENST00000371311.3 - 1 495 c.241G>A c.(241-243)Gcc>Acc p.A81T NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 81 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 TCCTCCTCGGCGCTCCCGCCC 0.721000 4 12 0 0 0.021553 0 0 PTPRC 5788 broad.mit.edu 37 1 198668831 198668831 + Nonsense_Mutation SNP C C A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:198668831C>A ENST00000367376.2 + 5 602 c.431C>A c.(430-432)tCa>tAa p.S144* PTPRC_ENST00000352140.3_Nonsense_Mutation_p.S144*|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000442510.2_Nonsense_Mutation_p.S146* NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 144 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 AATGCTATCTCAGGTTTGCGG 0.488000 OREG0014061 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 154 3.80469e-20 4.35101e-20 0.144211 1 0 LINGO4 339398 broad.mit.edu 37 1 151774060 151774060 + Missense_Mutation SNP C C T rs143135535 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:151774060C>T ENST00000368820.3 - 2 2058 c.1121G>A c.(1120-1122)cGc>cAc p.R374H NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 374 LRRCT. integral to membrane p.R374H(1) breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GTCCAGGTGGCGGCGGAGCCG 0.617000 5 13 0 0 0.093190 0 0 C3orf27 23434 broad.mit.edu 37 3 128292393 128292393 + Silent SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr3:128292393G>A ENST00000356020.2 - 3 1146 c.180C>T c.(178-180)ctC>ctT p.L60L NM_007354.2 NP_031380.1 O15544 GR6_HUMAN chromosome 3 open reading frame 27 60 large_intestine(2)|lung(5)|prostate(1) 8 GBM - Glioblastoma multiforme(114;0.176) CCAGACCCCCGAGTGTCTCTG 0.622000 9 53 0 0 0.058154 0 0 FAM111A 63901 broad.mit.edu 37 11 58919346 58919346 + Missense_Mutation SNP G G C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr11:58919346G>C ENST00000528737.1 + 5 3023 c.205G>C c.(205-207)Gac>Cac p.D69H FAM111A_ENST00000361723.3_Missense_Mutation_p.D69H|FAM111A_ENST00000531147.1_Missense_Mutation_p.D69H|FAM111A_ENST00000533703.1_Missense_Mutation_p.D69H|FAM111A_ENST00000420244.1_Missense_Mutation_p.D69H Q96PZ2 F111A_HUMAN family with sequence similarity 111, member A 69 proteolysis serine-type endopeptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_epithelial(135;0.139) AAATCCAGAAGACCAGACCAT 0.413000 3 112 0 0 0.150653 0 0 MAMLD1 10046 broad.mit.edu 37 X 149638793 149638793 + Silent SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chrX:149638793G>A ENST00000370401.2 + 4 1258 c.948G>A c.(946-948)ggG>ggA p.G316G MAMLD1_ENST00000426613.2_Silent_p.G291G|MAMLD1_ENST00000432680.2_Silent_p.G291G|MAMLD1_ENST00000262858.5_Silent_p.G316G Q13495 MAMD1_HUMAN mastermind-like domain containing 1 316 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) GCAAGCAGGGGTCTGCTACAA 0.647000 11 79 0 0 0.132662 0 0 A2ML1 144568 broad.mit.edu 37 12 9020881 9020881 + Missense_Mutation SNP G G C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr12:9020881G>C ENST00000299698.7 + 31 4169 c.3989G>C c.(3988-3990)aGt>aCt p.S1330T A2ML1_ENST00000539547.1_Missense_Mutation_p.S839T NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 1174 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 TTTAGTCTTAGTGTGGAAATA 0.448000 5 182 0 0 0.014758 0 0 KIAA1755 85449 broad.mit.edu 37 20 36867983 36867983 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr20:36867983C>T ENST00000279024.4 - 4 1965 c.1694G>A c.(1693-1695)aGg>aAg p.R565K NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 565 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) AGCCCCAATCCTGGGCTCAGG 0.632000 6 189 0 0 0.021553 0 0 DNAH11 8701 broad.mit.edu 37 7 21737769 21737769 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr7:21737769C>T ENST00000328843.6 + 37 6170 c.6139C>T c.(6139-6141)Cgt>Tgt p.R2047C DNAH11_ENST00000409508.3_Missense_Mutation_p.R2040C Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2047 AAA 1 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TGTGGATGCGCGTGCATTAGC 0.418000 Kartagener syndrome 7 29 0 0 0.029380 0 0 ATP5A1 498 broad.mit.edu 37 18 43666458 43666458 + Silent SNP G G T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr18:43666458G>T ENST00000593152.2 - 9 1568 c.1029C>A c.(1027-1029)atC>atA p.I343I ATP5A1_ENST00000590665.1_Silent_p.I371I|ATP5A1_ENST00000398752.6_Silent_p.I393I|ATP5A1_ENST00000282050.2_Silent_p.I393I NM_001257335.1 NP_001244264.1 P25705 ATPA_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle 393 ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain mitochondrial matrix|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1) 22 TTTCCAAGAAGATCTATAATG 0.403000 4 15 0.0215528 0.0222512 0.021553 1 0 MYOF 26509 broad.mit.edu 37 10 95162103 95162103 + Splice_Site SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr10:95162103G>A ENST00000371501.4 - 11 998 c.874_splice c.e11-1 p.G292_splice MYOF_ENST00000358334.5_Splice_Site_p.G292_splice|MYOF_ENST00000371489.1_Splice_Site_p.G292_splice|MYOF_ENST00000371502.4_Splice_Site_p.G292_splice|MYOF_ENST00000359263.4_Splice_Site_p.G292_splice Q9NZM1 MYOF_HUMAN myoferlin 292 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TGACAGCATGGCCTAAAATAG 0.418000 11 47 0 0 0.119110 0 0 ABCC8 6833 broad.mit.edu 37 11 17464266 17464266 + Splice_Site SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr11:17464266C>T ENST00000302539.4 - 10 1756 c.e10+1 ABCC8_ENST00000528202.1_Splice_Site|ABCC8_ENST00000389817.3_Splice_Site NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GGTGAACTCACTGGAGATGGA 0.612000 12 50 0 0 0.119110 0 0 AIM2 9447 broad.mit.edu 37 1 159035745 159035745 + Silent SNP A A G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:159035745A>G ENST00000368130.4 - 4 1059 c.771T>C c.(769-771)acT>acC p.T257T AIM2_ENST00000481829.1_5'UTR NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 257 HIN-200. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) CAAGGGGCTGAGTTTGAAGCG 0.393000 13 66 0 0 0.119110 0 0 AK7 122481 broad.mit.edu 37 14 96917885 96917885 + Missense_Mutation SNP A A G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr14:96917885A>G ENST00000267584.4 + 10 1120 c.1076A>G c.(1075-1077)tAc>tGc p.Y359C NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 359 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) CTCAAGGAGTACAAGCAAAGC 0.393000 4 26 0 0 0.014758 0 0 SCN8A 6334 broad.mit.edu 37 12 52201020 52201020 + Missense_Mutation SNP G G T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr12:52201020G>T ENST00000354534.5 + 27 5928 c.5750G>T c.(5749-5751)tGc>tTc p.C1917F SCN8A_ENST00000545061.1_Missense_Mutation_p.C1876F NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1917 IQ. axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) GGCTTCATCTGCAAAAAGACA 0.547000 17 83 1.99824e-07 2.22803e-07 0.160694 1 0 CHRM2 1129 broad.mit.edu 37 7 136700368 136700368 + Silent SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr7:136700368C>T ENST00000445907.2 + 3 1284 c.756C>T c.(754-756)gaC>gaT p.D252D CHRM2_ENST00000397608.3_Silent_p.D252D|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Silent_p.D252D|CHRM2_ENST00000401861.1_Silent_p.D252D|CHRM2_ENST00000320658.5_Silent_p.D252D|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Silent_p.D252D|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000598184.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 252 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CCAGCAGTGACGATGGCCTGG 0.507000 6 24 0 0 0.029380 0 0 KRT6C 286887 broad.mit.edu 37 12 52865969 52865969 + Silent SNP C C T rs147574610 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr12:52865969C>T ENST00000252250.6 - 2 683 c.636G>A c.(634-636)ccG>ccA p.P212P NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 212 Linker 1.|Rod. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) GCTCGAACAACGGCTCCAGGT 0.602000 11 42 0 0 0.146539 0 0 NOTCH2 4853 broad.mit.edu 37 1 120539849 120539849 + Silent SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:120539849G>A ENST00000256646.2 - 4 741 c.522C>T c.(520-522)ttC>ttT p.F174F NOTCH2_ENST00000602566.1_Silent_p.F135F NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 174 EGF-like 4. anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TCTGCCCTGTGAAGCCTGTGA 0.547000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 36 65 0 0 0.074837 0 0 KRT34 3885 broad.mit.edu 37 17 39535236 39535236 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr17:39535236G>A ENST00000394001.1 - 6 1225 c.1195C>T c.(1195-1197)Cgg>Tgg p.R399W NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 399 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) AGGAGGCTCCGGTACGTGTTG 0.562000 86 148 0 0 0.139131 0 0 BNIP3P1 319138 broad.mit.edu 37 14 28734125 28734125 + RNA SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr14:28734125C>T ENST00000550043.1 + 0 530 TTGGTCAAGTCGGCCGGAAAA 0.478000 10 33 0 0 0.069234 0 0 GART 2618 broad.mit.edu 37 21 34903822 34903822 + Missense_Mutation SNP T T G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr21:34903822T>G ENST00000381831.3 - 6 833 c.570A>C c.(568-570)gaA>gaC p.E190D GART_ENST00000381839.3_Missense_Mutation_p.E190D|GART_ENST00000361093.5_Missense_Mutation_p.E190D|GART_ENST00000497313.1_5'UTR|GART_ENST00000381815.4_Missense_Mutation_p.E190D NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 190 ATP-grasp. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) CAAGAAGTTCTTCAATGACAA 0.358000 6 72 0 0 0.047766 0 0 CCDC125 202243 broad.mit.edu 37 5 68578628 68578628 + Silent SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr5:68578628C>T ENST00000396496.2 - 12 1571 c.1464G>A c.(1462-1464)caG>caA p.Q488Q CCDC125_ENST00000511257.1_Silent_p.Q363Q|CCDC125_ENST00000383374.2_3'UTR|CCDC125_ENST00000396499.1_Silent_p.Q488Q|CCDC125_ENST00000460090.1_5'UTR Q86Z20 CC125_HUMAN coiled-coil domain containing 125 488 cytoplasm breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1) 19 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) TTTGAGAGTGCTGGATTGAAC 0.378000 3 51 0 0 0.115264 0 0 UMODL1 89766 broad.mit.edu 37 21 43519072 43519072 + Missense_Mutation SNP T T A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr21:43519072T>A ENST00000400427.1 + 7 1148 c.752T>A c.(751-753)gTc>gAc p.V251D UMODL1_ENST00000408989.2_Missense_Mutation_p.V323D|UMODL1_ENST00000400424.1_Missense_Mutation_p.V251D|UMODL1_ENST00000408910.2_Missense_Mutation_p.V323D NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 323 cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 GTCCTCAACGTCACCAGTGAC 0.507000 10 108 0 0 0.069234 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28338433 28338433 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr21:28338433G>A ENST00000284987.5 - 1 399 c.278C>T c.(277-279)gCg>gTg p.A93V NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 93 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 CCGGCCGCCCGCGTAGACGAG 0.701000 12 27 0 0 0.146539 0 0 OR4C15 81309 broad.mit.edu 37 11 55322168 55322168 + Missense_Mutation SNP T T C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr11:55322168T>C ENST00000314644.2 + 1 386 c.386T>C c.(385-387)gTc>gCc p.V129A NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TTCTCATCTGTCATCACCCCA 0.468000 HNSCC(20;0.049) 10 190 0 0 0.080935 0 0 OR2T27 403239 broad.mit.edu 37 1 248813367 248813367 + Silent SNP A A G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:248813367A>G ENST00000344889.3 - 1 818 c.819T>C c.(817-819)gcT>gcC p.A273A NM_001001824.1 NP_001001824.1 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, member 27 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGGCAGATACAGCTTTGTCCT 0.522000 12 45 0 0 0.105934 0 0 CPO 130749 broad.mit.edu 37 2 207814376 207814376 + Missense_Mutation SNP A A C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:207814376A>C ENST00000272852.3 + 2 150 c.104A>C c.(103-105)aAg>aCg p.K35T NM_173077.2 NP_775100.1 Q8IVL8 CBPO_HUMAN carboxypeptidase O 35 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142) ATTGTGGACAAGTCAGTGAGT 0.502000 13 67 0 0 0.119110 0 0 OR51I2 390064 broad.mit.edu 37 11 5475386 5475386 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr11:5475386G>A ENST00000341449.2 + 1 749 c.668G>A c.(667-669)cGt>cAt p.R223H HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R223H(1) endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCATTCTGCGTTCTGTCATG 0.448000 17 103 0 0 0.049695 0 0 CNR1 1268 broad.mit.edu 37 6 88853987 88853987 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr6:88853987C>T ENST00000537554.1 - 2 4569 c.1007G>A c.(1006-1008)cGc>cAc p.R336H CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.R336H|CNR1_ENST00000468898.1_Missense_Mutation_p.R303H|CNR1_ENST00000369501.2_Missense_Mutation_p.R336H|CNR1_ENST00000549716.1_Missense_Mutation_p.R275H|CNR1_ENST00000369499.2_Missense_Mutation_p.R336H|CNR1_ENST00000549890.1_Missense_Mutation_p.R336H|CNR1_ENST00000535130.1_Missense_Mutation_p.R336H NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 336 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding p.R336H(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) AATGTCCATGCGGGCTTGGTC 0.567000 3 77 0 0 0.115264 0 0 FAT2 2196 broad.mit.edu 37 5 150905367 150905367 + Missense_Mutation SNP T T C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr5:150905367T>C ENST00000261800.5 - 17 10480 c.10468A>G c.(10468-10470)Agc>Ggc p.S3490G NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3490 Cadherin 31. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCCCTCCTGCTTAGGCCCTCA 0.572000 6 49 0 0 0.021553 0 0 FAM71E1 112703 broad.mit.edu 37 19 50979509 50979509 + Missense_Mutation SNP G G T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr19:50979509G>T ENST00000600100.1 - 1 501 c.137C>A c.(136-138)cCt>cAt p.P46H FAM71E1_ENST00000595790.1_Missense_Mutation_p.P46H Q6IPT2 F71E1_HUMAN family with sequence similarity 71, member E1 46 breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026) GAGAAAGCGAGGGGGCGGGAC 0.657000 3 7 0.00909568 0.00956763 0.150653 1 0 FDFT1 2222 broad.mit.edu 37 8 11667355 11667355 + Missense_Mutation SNP C C A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr8:11667355C>A ENST00000220584.4 + 3 599 c.377C>A c.(376-378)cCa>cAa p.P126Q FDFT1_ENST00000528643.1_Missense_Mutation_p.P41Q|FDFT1_ENST00000538689.1_Missense_Mutation_p.P15Q|FDFT1_ENST00000525900.1_Missense_Mutation_p.P119Q|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000530664.1_Missense_Mutation_p.P62Q|FDFT1_ENST00000528812.1_Missense_Mutation_p.P62Q|FDFT1_ENST00000525777.1_Missense_Mutation_p.P41Q|FDFT1_ENST00000443614.2_Missense_Mutation_p.P126Q NM_004462.3 NP_004453.3 P37268 FDFT_HUMAN farnesyl-diphosphate farnesyltransferase 1 126 cholesterol biosynthetic process|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2) 12 all_epithelial(15;0.234) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.18) GAGGACTTCCCAACGGTGAGT 0.498000 3 13 0.004672 0.00496122 0.115264 1 0 TRIP12 9320 broad.mit.edu 37 2 230724133 230724133 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:230724133G>A ENST00000283943.5 - 3 434 c.256C>T c.(256-258)Cct>Tct p.P86S TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.P128S|TRIP12_ENST00000409677.1_Missense_Mutation_p.P128S|TRIP12_ENST00000543084.1_Missense_Mutation_p.P128S NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 86 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) GCAGAGCTAGGAGAATTGGTC 0.428000 25 88 0 0 0.076483 0 0 MT-CO3 4514 broad.mit.edu 37 MT 9575 9575 + Missense_Mutation SNP G G C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chrM:9575G>C ENST00000362079.2 + 1 369 c.369G>C c.(367-369)ccG>ccC p.123_123insP mitochondrially encoded cytochrome c oxidase III breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1) 27 GGCATCACCCCGCTAAATCCC 0.498000 105 218 0 0 0.139131 0 0 KAT2A 2648 broad.mit.edu 37 17 40269436 40269436 + Missense_Mutation SNP T T A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr17:40269436T>A ENST00000225916.5 - 10 1660 c.1607A>T c.(1606-1608)aAg>aTg p.K536M NM_021078.2 NP_066564.2 Q92830 KAT2A_HUMAN K(lysine) acetyltransferase 2A 536 N-acetyltransferase. chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GATATACTCCTTAGGCATGCG 0.642000 3 20 0 0 0.115264 0 0 CCDC170 80129 broad.mit.edu 37 6 151859418 151859418 + Missense_Mutation SNP A A G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr6:151859418A>G ENST00000367290.5 + 3 514 c.425A>G c.(424-426)gAg>gGg p.E142G CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000239374.7_Missense_Mutation_p.E142G Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 142 AAAGTTGTAGAGTTAAATGAA 0.343000 4 62 0 0 0.014758 0 0 TSHZ1 10194 broad.mit.edu 37 18 73000513 73000513 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr18:73000513G>A ENST00000322038.5 + 2 3600 c.3016G>A c.(3016-3018)Gca>Aca p.A1006T TSHZ1_ENST00000580243.1_Missense_Mutation_p.A1051T NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 1051 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) GAGCAAGCACGCAGTCAAACT 0.542000 10 42 0 0 0.080935 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113634553 113634553 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr3:113634553G>A ENST00000358160.4 + 10 1450 c.958G>A c.(958-960)Gtt>Att p.V320I GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.V153I|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.V115I|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.V49I NM_017577.4 NP_060047.3 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 320 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 TCCAGAAAATGTTCCTGAGAA 0.328000 3 18 0 0 0.150653 0 0 SLC8A1 6546 broad.mit.edu 37 2 40655812 40655812 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:40655812C>T ENST00000406785.1 - 2 1798 c.1609G>A c.(1609-1611)Gca>Aca p.A537T SLC8A1_ENST00000405901.3_Missense_Mutation_p.A537T|SLC8A1_ENST00000408028.2_Missense_Mutation_p.A537T|SLC8A1_ENST00000406391.2_Missense_Mutation_p.A537T|SLC8A1_ENST00000405269.1_Missense_Mutation_p.A537T|SLC8A1_ENST00000332839.4_Missense_Mutation_p.A537T|SLC8A1_ENST00000542756.1_Missense_Mutation_p.A537T|SLC8A1_ENST00000403092.1_Missense_Mutation_p.A537T|SLC8A1_ENST00000542024.1_Missense_Mutation_p.A537T|SLC8A1_ENST00000402441.1_Missense_Mutation_p.A537T P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 537 Calx-beta 2. cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding p.A537T(1) NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AAAATGCCTGCGTGGTCATCA 0.453000 9 58 0 0 0.058154 0 0 FRG1B 284802 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr20:29625934C>T ENST00000278882.3 + 5 558 c.178C>T c.(178-180)Cat>Tat p.H60Y FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTTGTTGGGCATTCAGATGC 0.338000 4 82 0 0 0.029380 0 0 OXR1 55074 broad.mit.edu 37 8 107763109 107763109 + Silent SNP T T C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr8:107763109T>C ENST00000445937.1 + 16 2742 c.2481T>C c.(2479-2481)cgT>cgC p.R827R OXR1_ENST00000517566.2_Silent_p.R854R|OXR1_ENST00000449762.2_Silent_p.R197R|OXR1_ENST00000297447.6_Silent_p.R224R|OXR1_ENST00000531443.1_Silent_p.R827R|OXR1_ENST00000312046.6_Silent_p.R820R|OXR1_ENST00000521592.1_Silent_p.R100R|OXR1_ENST00000442977.2_Silent_p.R855R|OXR1_ENST00000452423.2_Silent_p.R275R NM_018002.3 NP_060472.2 Q8N573 OXR1_HUMAN oxidation resistance 1 855 TLD. cell wall macromolecule catabolic process|response to oxidative stress mitochondrion NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) TTGGGAATCGTACACTTTCTA 0.373000 9 47 0 0 0.058154 0 0 BRIX1 55299 broad.mit.edu 37 5 34924964 34924964 + Missense_Mutation SNP G G C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr5:34924964G>C ENST00000336767.5 + 9 1039 c.676G>C c.(676-678)Gat>Cat p.D226H BRIX1_ENST00000506023.1_3'UTR NM_018321.3 NP_060791.3 Q8TDN6 BRX1_HUMAN BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) 226 Brix. ribosome biogenesis|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(1)|large_intestine(2)|lung(1) 4 CATAGAAGAAGATGCTGCTCT 0.338000 4 29 0 0 0.014758 0 0 CELSR2 1952 broad.mit.edu 37 1 109807587 109807587 + Silent SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:109807587C>T ENST00000271332.3 + 12 5623 c.5562C>T c.(5560-5562)acC>acT p.T1854T NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1854 EGF-like 6; calcium-binding. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) ATGGCTATACCTGCGAGTGTC 0.562000 19 87 0 0 0.062417 0 0 WNK1 65125 broad.mit.edu 37 12 977239 977239 + Missense_Mutation SNP A A G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr12:977239A>G ENST00000537687.1 + 9 2990 c.2347A>G c.(2347-2349)Agt>Ggt p.S783G WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.S868G|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.S82G|WNK1_ENST00000340908.4_Intron NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 0 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TGTTGGCCAAAGTCTTCTTCC 0.542000 11 550 0 0 0.105934 0 0 NEK11 79858 broad.mit.edu 37 3 131068579 131068579 + Nonstop_Mutation SNP A A T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr3:131068579A>T ENST00000510688.1 + 16 2024 c.1800A>T c.(1798-1800)tgA>tgT p.*600C NEK11_ENST00000412440.2_Missense_Mutation_p.I449F|NEK11_ENST00000383366.4_Missense_Mutation_p.I633F|RP11-933H2.4_ENST00000513905.1_RNA|NEK11_ENST00000508196.1_Missense_Mutation_p.I633F|NEK11_ENST00000429253.2_Missense_Mutation_p.I633F|NEK11_ENST00000510769.1_Missense_Mutation_p.I528F|RP11-933H2.4_ENST00000502521.1_RNA NM_001146003.1 NP_001139475.1 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 0 cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 GCAGTTGCTGATCACGATGGG 0.433000 9 83 0 0 0.047766 0 0 GEMIN8 54960 broad.mit.edu 37 X 14038377 14038377 + Missense_Mutation SNP G G T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chrX:14038377G>T ENST00000380523.4 - 4 610 c.292C>A c.(292-294)Cag>Aag p.Q98K GEMIN8_ENST00000460203.1_5'UTR|GEMIN8_ENST00000398355.3_Missense_Mutation_p.Q98K NM_017856.2 NP_060326.1 Q9NWZ8 GEMI8_HUMAN gem (nuclear organelle) associated protein 8 98 spliceosomal snRNP assembly Cajal body|cytoplasm|SMN complex|spliceosomal complex protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 9 CGTGGATGCTGCCCAGATCTT 0.493000 26 105 3.73988e-18 4.25507e-18 0.116897 1 0 PTPRN 5798 broad.mit.edu 37 2 220166981 220166981 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:220166981G>A ENST00000295718.2 - 6 1112 c.872C>T c.(871-873)gCc>gTc p.A291V PTPRN_ENST00000409251.3_Missense_Mutation_p.A291V|PTPRN_ENST00000423636.2_Missense_Mutation_p.A201V|AC114803.3_ENST00000417355.1_RNA NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 291 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) TGGCACCCTGGCCCTGCTGGG 0.632000 21 33 0 0 0.049695 0 0 IKZF5 64376 broad.mit.edu 37 10 124753876 124753876 + Missense_Mutation SNP T T C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr10:124753876T>C ENST00000368886.5 - 5 1000 c.680A>G c.(679-681)tAt>tGt p.Y227C PSTK_ENST00000497219.1_Intron NM_001271840.1 NP_001258769.1 Q9H5V7 IKZF5_HUMAN IKAROS family zinc finger 5 (Pegasus) 227 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|lung(3)|prostate(1) 6 all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222) Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754) CATACTTTCATAGGAGTCAGT 0.463000 23 109 0 0 0.069288 0 0 ABCG1 9619 broad.mit.edu 37 21 43708163 43708163 + Nonsense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr21:43708163C>T ENST00000398437.1 + 10 1724 c.1576C>T c.(1576-1578)Cga>Tga p.R526* ABCG1_ENST00000347800.2_Intron|ABCG1_ENST00000462050.1_Intron|ABCG1_ENST00000340588.4_Nonsense_Mutation_p.R488*|ABCG1_ENST00000398449.3_Intron|ABCG1_ENST00000398457.2_Intron|ABCG1_ENST00000343687.3_Intron|ABCG1_ENST00000361802.2_Nonsense_Mutation_p.R380* P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 380 ABC transmembrane type-2. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) GCAGACAAAACGATTAAAGGG 0.562000 39 179 0 0 0.092188 0 0 TPR 7175 broad.mit.edu 37 1 186307308 186307308 + Nonsense_Mutation SNP T T A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:186307308T>A ENST00000367478.3 - 31 4515 c.4219A>T c.(4219-4221)Aga>Tga p.R1407* NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 1407 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TTTTCAGTTCTTACTTTATTT 0.308000 T NTRK1 papillary thyroid 3 22 0 0 0.150653 0 0 TTK 7272 broad.mit.edu 37 6 80750407 80750407 + Missense_Mutation SNP T T G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr6:80750407T>G ENST00000509894.1 + 21 3303 c.2474T>G c.(2473-2475)tTg>tGg p.L825W TTK_ENST00000230510.3_Missense_Mutation_p.L825W|TTK_ENST00000369798.2_Missense_Mutation_p.L826W P33981 TTK_HUMAN TTK protein kinase 826 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) AACTCCATTTTGAAAGCTGCT 0.323000 10 40 0 0 0.080935 0 0 WNK3 65267 broad.mit.edu 37 X 54335697 54335697 + Nonsense_Mutation SNP G G T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chrX:54335697G>T ENST00000354646.2 - 4 1200 c.762C>A c.(760-762)tgC>tgA p.C254* WNK3_ENST00000375159.2_Nonsense_Mutation_p.C254*|WNK3_ENST00000375169.3_Nonsense_Mutation_p.C254* NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 254 Protein kinase. intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 AAATTTGCCTGCACCAGCTCC 0.393000 17 28 1.5739e-10 1.77262e-10 0.146539 1 0 GRIA2 2891 broad.mit.edu 37 4 158282246 158282246 + Silent SNP A A G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr4:158282246A>G ENST00000264426.9 + 14 2655 c.2376A>G c.(2374-2376)ggA>ggG p.G792G GRIA2_ENST00000296526.7_Intron|GRIA2_ENST00000449365.1_Intron|GRIA2_ENST00000507898.1_Intron|GRIA2_ENST00000393815.2_Intron NM_001083619.1 NP_001077088.1 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 792 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) ACGACAAAGGAGAGTGCGGCA 0.448000 7 33 0 0 0.038147 0 0 SIM1 6492 broad.mit.edu 37 6 100841682 100841682 + Silent SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr6:100841682C>T ENST00000369208.3 - 11 2033 c.1251G>A c.(1249-1251)ccG>ccA p.P417P SIM1_ENST00000262901.4_Silent_p.P417P P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 417 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CCAGAAGCTGCGGAGAGGCCG 0.592000 20 25 0 0 0.062417 0 0 SLITRK6 84189 broad.mit.edu 37 13 86370440 86370440 + Missense_Mutation SNP T T A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr13:86370440T>A ENST00000400286.2 - 2 802 c.204A>T c.(202-204)caA>caT p.Q68H NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 68 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) ATAAGCTTAGTTGGAAAGGTC 0.373000 12 82 0 0 0.132662 0 0 LZTR1 8216 broad.mit.edu 37 22 21344731 21344731 + Silent SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr22:21344731C>T ENST00000215739.8 + 8 1067 c.708C>T c.(706-708)tgC>tgT p.C236C LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Silent_p.C217C NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 236 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TGGCTGTGTGCCGGGACAAGA 0.582000 3 28 0 0 0.115264 0 0 SLFN11 91607 broad.mit.edu 37 17 33687335 33687335 + Silent SNP A A G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr17:33687335A>G ENST00000394566.1 - 5 1397 c.1125T>C c.(1123-1125)ccT>ccC p.P375P SLFN11_ENST00000308377.4_Silent_p.P375P NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 375 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGCTAAGGGGAGGCCCACTAG 0.388000 9 47 0 0 0.058154 0 0 ZFP82 284406 broad.mit.edu 37 19 36884572 36884572 + Nonsense_Mutation SNP T T A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr19:36884572T>A ENST00000392161.3 - 5 912 c.670A>T c.(670-672)Aaa>Taa p.K224* ZFP82_ENST00000392171.1_Nonsense_Mutation_p.K224* NM_133466.2 NP_597723.1 Q8N141 ZFP82_HUMAN ZFP82 zinc finger protein 224 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TCATAGAGTTTTTCACCAGAA 0.403000 16 61 0 0 0.160694 0 0 PRICKLE3 4007 broad.mit.edu 37 X 49032614 49032614 + Splice_Site SNP G G T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chrX:49032614G>T ENST00000376317.3 - 9 1350 c.1255_splice c.e9-1 p.A419_splice PRICKLE3_ENST00000538114.1_Intron|PRICKLE3_ENST00000536904.1_Splice_Site_p.A338_splice|PRICKLE3_ENST00000540849.1_Splice_Site_p.A351_splice NM_006150.3 NP_006141.2 O43900 PRIC3_HUMAN prickle homolog 3 (Drosophila) 419 Missing (in Ref. 5; AAB92357). protein binding|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2) 22 AGGGCCTGTAGCTGTTAAGGG 0.647000 3 10 0.004672 0.00496122 0.115264 1 0 USH2A 7399 broad.mit.edu 37 1 216108090 216108090 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:216108090C>T ENST00000366943.2 - 38 7554 c.7168G>A c.(7168-7170)Gga>Aga p.G2390R USH2A_ENST00000307340.3_Missense_Mutation_p.G2390R O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2390 Fibronectin type-III 10. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.G2390R(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTCTCTTCTCCGCTGTACATG 0.343000 HNSCC(13;0.011) 17 24 0 0 0.043863 0 0 CPXM2 119587 broad.mit.edu 37 10 125539747 125539747 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr10:125539747C>T ENST00000241305.3 - 7 1068 c.914G>A c.(913-915)cGg>cAg p.R305Q CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 305 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding p.R305L(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CATCTCGTTCCGGCGGTGATA 0.443000 19 51 0 0 0.049695 0 0 PMS2CL 441194 broad.mit.edu 37 7 6777427 6777427 + RNA SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr7:6777427G>A ENST00000486256.1 + 0 1554 NR_002217.1 GAACTTTTCTGAGTTCTTTAG 0.393000 5 19 0 0 0.029380 0 0 ZNF157 7712 broad.mit.edu 37 X 47272631 47272631 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chrX:47272631G>A ENST00000377073.3 + 4 1245 c.1159G>A c.(1159-1161)Gaa>Aaa p.E387K NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 387 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 GAAACCTTACGAATGTAATGA 0.428000 7 71 0 0 0.047766 0 0 MTHFD1L 25902 broad.mit.edu 37 6 151209072 151209072 + Silent SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr6:151209072C>T ENST00000367321.3 + 7 1009 c.735C>T c.(733-735)tcC>tcT p.S245S MTHFD1L_ENST00000367307.4_Silent_p.S245S NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 245 Methylenetetrahydrofolate dehydrogenase and cyclohydrolase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) GAAAAGGGTCCATGACAATGA 0.438000 11 33 0 0 0.080935 0 0 DNAJC25 548645 broad.mit.edu 37 9 114411887 114411887 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr9:114411887G>A ENST00000313525.3 + 3 700 c.644G>A c.(643-645)cGt>cAt p.R215H DNAJC25-GNG10_ENST00000374294.3_Intron|DNAJC25_ENST00000556107.1_Intron NM_001015882.2 NP_001015882.2 Q9H1X3 DJC25_HUMAN DnaJ (Hsp40) homolog, subfamily C , member 25 215 protein folding integral to membrane heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(2)|lung(1)|skin(4) 8 GAAGAAATTCGTGACGAGGAG 0.393000 3 40 0 0 0.115264 0 0 SEMA3A 10371 broad.mit.edu 37 7 83640399 83640399 + Missense_Mutation SNP A A G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr7:83640399A>G ENST00000265362.3 - 9 1248 c.934T>C c.(934-936)Ttc>Ctc p.F312L SEMA3A_ENST00000436949.1_Missense_Mutation_p.F312L NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 312 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 TTCATTAGGAATACATCCTCT 0.303000 5 28 0 0 0.014758 0 0 LOC645166 645166 broad.mit.edu 37 1 148932789 148932789 + RNA SNP G G T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:148932789G>T ENST00000539543.1 + 0 45 NR_027355.1 TCTGCAGACTGCTGGCCAGAC 0.582000 4 99 0.014758 0.0153071 0.014758 1 0 MDN1 23195 broad.mit.edu 37 6 90455080 90455080 + Missense_Mutation SNP C C T rs114853466 by1000genomes TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr6:90455080C>T ENST00000369393.3 - 29 4205 c.4090G>A c.(4090-4092)Gtg>Atg p.V1364M MDN1_ENST00000428876.1_Missense_Mutation_p.V1364M Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1364 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TCAGTCCACACGATATGGCCA 0.433000 9 52 0 0 0.047766 0 0 OR2G6 391211 broad.mit.edu 37 1 248685778 248685778 + Missense_Mutation SNP C C G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:248685778C>G ENST00000343414.4 + 1 863 c.831C>G c.(829-831)ttC>ttG p.F277L NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTTCTCTTTTCTATACCATAG 0.438000 5 92 0 0 0.014758 0 0 PCLO 27445 broad.mit.edu 37 7 82582407 82582407 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr7:82582407G>A ENST00000423517.2 - 5 8199 c.7862C>T c.(7861-7863)tCt>tTt p.S2621F PCLO_ENST00000333891.8_Missense_Mutation_p.S2621F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2552 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AGGAACTACAGAAAACACAGG 0.453000 20 109 0 0 0.049695 0 0 CENPC 1060 broad.mit.edu 37 4 68374581 68374581 + Nonsense_Mutation SNP C C A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr4:68374581C>A ENST00000273853.6 - 10 2105 c.1855G>T c.(1855-1857)Gaa>Taa p.E619* NM_001812.2 NP_001803.2 centromere protein C TCATCACTTTCCAATGGCTCA 0.368000 18 99 2.35188e-11 2.66228e-11 0.175082 1 0 CTDSPL 10217 broad.mit.edu 37 3 38022323 38022323 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr3:38022323G>A ENST00000443503.2 + 7 1003 c.763G>A c.(763-765)Gtg>Atg p.V255M CTDSPL_ENST00000273179.5_Missense_Mutation_p.V266M|CTDSPL_ENST00000310189.3_3'UTR NM_005808.2 NP_005799.2 O15194 CTDSL_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like 266 FCP1 homology. nucleus metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|large_intestine(4)|skin(1) 8 Melanoma(1037;0.0122) KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902) GGAGGACGACGTGTACAGCAT 0.617000 6 9 0 0 0.047766 0 0 THSD7B 80731 broad.mit.edu 37 2 137988705 137988705 + Silent SNP C C T rs143921844 by1000genomes TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:137988705C>T ENST00000409968.1 + 8 1993 c.1815C>T c.(1813-1815)agC>agT p.S605S THSD7B_ENST00000413152.2_Silent_p.S574S|THSD7B_ENST00000272643.3_Silent_p.S605S|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GTGTGCTGAGCGAGTGGACGG 0.512000 16 45 0 0 0.146539 0 0 PMS2CL 441194 broad.mit.edu 37 7 6777402 6777402 + RNA SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr7:6777402G>A ENST00000486256.1 + 0 1529 NR_002217.1 AAATTAATAAGAAAGTTGTGC 0.368000 5 16 0 0 0.038147 0 0 PREX2 80243 broad.mit.edu 37 8 69129863 69129863 + Silent SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr8:69129863C>T ENST00000288368.4 + 38 4894 c.4617C>T c.(4615-4617)agC>agT p.S1539S NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1539 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GCACCCTGAGCGTGACGCTGG 0.527000 5 24 0 0 0.021553 0 0 SMG1 23049 broad.mit.edu 37 16 18896866 18896866 + Silent SNP A A G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr16:18896866A>G ENST00000446231.2 - 7 1357 c.945T>C c.(943-945)ttT>ttC p.F315F SMG1_ENST00000565224.1_Silent_p.F289F|SMG1_ENST00000389467.3_Silent_p.F315F Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 315 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 AACTCACCCTAAAATTAGTGC 0.428000 26 88 0 0 0.116897 0 0 RAB6B 51560 broad.mit.edu 37 3 133558368 133558368 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr3:133558368G>A ENST00000285208.4 - 5 732 c.383C>T c.(382-384)aCg>aTg p.T128M RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000543906.1_Missense_Mutation_p.T128M|RAB6B_ENST00000486858.1_Missense_Mutation_p.T115M NM_016577.3 NP_057661.3 Q9NRW1 RAB6B_HUMAN RAB6B, member RAS oncogene family 128 protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|Golgi membrane GTP binding|GTPase activity|protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 11 AGCCAGGTCCGTCTTGTTGCC 0.562000 13 45 0 0 0.119110 0 0 NMUR2 56923 broad.mit.edu 37 5 151784112 151784112 + Missense_Mutation SNP T T A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr5:151784112T>A ENST00000255262.3 - 1 728 c.563A>T c.(562-564)aAg>aTg p.K188M NMUR2_ENST00000518933.1_Intron NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 188 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) GTAGTGGAACTTGATGCCATG 0.592000 19 69 0 0 0.062417 0 0 KRT38 8687 broad.mit.edu 37 17 39594546 39594546 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr17:39594546G>A ENST00000246646.3 - 6 1039 c.1040C>T c.(1039-1041)tCc>tTc p.S347F NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 347 Coil 2.|Rod. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) TTCACACAGGGAGTTCTGCAG 0.537000 4 31 0 0 0.115264 0 0 ROCK2 9475 broad.mit.edu 37 2 11351926 11351926 + Missense_Mutation SNP T T C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:11351926T>C ENST00000315872.6 - 18 2532 c.2084A>G c.(2083-2085)aAa>aGa p.K695R ROCK2_ENST00000401753.1_Missense_Mutation_p.K452R NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 695 Interaction with PPP1R12A. 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) CTGTATAACTTTTAGTTGGTA 0.348000 3 54 0 0 0.115264 0 0 DNAH11 8701 broad.mit.edu 37 7 21882362 21882362 + Missense_Mutation SNP T T G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr7:21882362T>G ENST00000328843.6 + 67 10944 c.10913T>G c.(10912-10914)cTt>cGt p.L3638R DNAH11_ENST00000409508.3_Missense_Mutation_p.L3631R Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3638 AAA 5 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TTGGAGAAACTTAAGGTAAAA 0.433000 Kartagener syndrome 3 15 0 0 0.115264 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30863357 30863357 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr12:30863357C>T ENST00000251071.5 - 18 3613 c.2863G>A c.(2863-2865)Gaa>Aaa p.E955K CAPRIN2_ENST00000395805.2_3'UTR|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.E621K|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.E905K|CAPRIN2_ENST00000417045.1_3'UTR NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 955 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TTAAAGGTTTCGTTGTCTCTT 0.478000 50 213 0 0 0.139131 0 0 TRAPPC12 51112 broad.mit.edu 37 2 3428399 3428399 + Missense_Mutation SNP A A C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:3428399A>C ENST00000324266.5 + 5 1577 c.1382A>C c.(1381-1383)tAc>tCc p.Y461S TRAPPC12_ENST00000469147.1_3'UTR|TRAPPC12_ENST00000382110.2_Missense_Mutation_p.Y461S NM_016030.5 NP_057114.5 Q8WVT3 TTC15_HUMAN trafficking protein particle complex 12 461 binding GATCTTTATTACGAGTACTAC 0.453000 9 29 0 0 0.069234 0 0 DSCAM 1826 broad.mit.edu 37 21 41711173 41711173 + Silent SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr21:41711173C>T ENST00000400454.1 - 7 1857 c.1380G>A c.(1378-1380)acG>acA p.T460T NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 460 Ig-like C2-type 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TCCCCTCCGACGTGATCATCT 0.612000 10 40 0 0 0.080935 0 0 FANCG 2189 broad.mit.edu 37 9 35076825 35076825 + Nonsense_Mutation SNP T T A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr9:35076825T>A ENST00000378643.3 - 7 1311 c.820A>T c.(820-822)Aaa>Taa p.K274* NM_004629.1 NP_004620.1 O15287 FANCG_HUMAN Fanconi anemia, complementation group G 274 cell cycle checkpoint|DNA repair|mitochondrion organization mitochondrion|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1) 28 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GATCCCTCTTTCAGGGCTGCA 0.532000 """Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks 7 78 0 0 0.029380 0 0 DNAH5 1767 broad.mit.edu 37 5 13759048 13759048 + Silent SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr5:13759048C>T ENST00000265104.4 - 61 10430 c.10326G>A c.(10324-10326)caG>caA p.Q3442Q NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3442 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCTGCAGATCCTGCATGGCCA 0.547000 Kartagener syndrome 5 150 0 0 0.014758 0 0 ANO5 203859 broad.mit.edu 37 11 22248895 22248895 + Missense_Mutation SNP G G C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr11:22248895G>C ENST00000324559.8 + 7 728 c.411G>C c.(409-411)tgG>tgC p.W137C NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 137 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ATGCCCCTTGGGAGGTATTAG 0.408000 10 122 0 0 0.093190 0 0 ZNF774 342132 broad.mit.edu 37 15 90904004 90904004 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr15:90904004C>T ENST00000354377.3 + 4 1127 c.941C>T c.(940-942)aCg>aTg p.T314M ZNF774_ENST00000379090.5_Intron NM_001004309.2 NP_001004309.2 Q6NX45 ZN774_HUMAN zinc finger protein 774 314 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1) 14 Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331) BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) CGAACCCACACGGGAGAACGG 0.527000 21 211 0 0 0.062417 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C G rs121913529 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr12:25398284C>G ENST00000311936.3 - 2 226 c.35G>C c.(34-36)gGt>gCt p.G12A KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 3 9 0 0 0.014758 0 0 OR2M7 391196 broad.mit.edu 37 1 248487030 248487030 + Missense_Mutation SNP C C T rs143090101 byFrequency TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:248487030C>T ENST00000317965.2 - 1 869 c.841G>A c.(841-843)Gtc>Atc p.V281I NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V281I(1) breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATGGGAGTGACGATGGTGTAG 0.453000 12 54 0 0 0.080935 0 0 DLX5 1749 broad.mit.edu 37 7 96653608 96653608 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr7:96653608G>A ENST00000222598.4 - 1 801 c.328C>T c.(328-330)Cgc>Tgc p.R110C DLX5_ENST00000486603.2_Missense_Mutation_p.R110C|DLX5_ENST00000493764.1_5'UTR NM_005221.5 NP_005212.1 P56178 DLX5_HUMAN distal-less homeobox 5 110 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1) 20 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) CTTGGGACGCGGTTGTAGGCG 0.637000 3 14 0 0 0.014758 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77327081 77327081 + Silent SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr16:77327081G>A ENST00000282849.5 - 20 3499 c.3081C>T c.(3079-3081)ccC>ccT p.P1027P NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 1027 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 ACTGGCTCTCGGGGAGGGTTT 0.567000 17 44 0 0 0.175082 0 0 SH2D2A 9047 broad.mit.edu 37 1 156779567 156779567 + Silent SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:156779567G>A ENST00000392306.2 - 6 769 c.630C>T c.(628-630)acC>acT p.T210T SH2D2A_ENST00000368199.3_Silent_p.T200T|SH2D2A_ENST00000368198.3_Silent_p.T182T NM_001161441.1 NP_001154913.1 Q9NP31 SH22A_HUMAN SH2 domain containing 2A 200 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|large_intestine(2)|lung(15) 18 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TTGATTCTTCGGTCCTCAGGG 0.582000 150 338 0 0 0.139131 0 0 NAALAD2 10003 broad.mit.edu 37 11 89896721 89896721 + Missense_Mutation SNP C C A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr11:89896721C>A ENST00000534061.1 + 11 1444 c.1214C>A c.(1213-1215)aCt>aAt p.T405N NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.T372N|NAALAD2_ENST00000525171.1_Missense_Mutation_p.T312N NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 405 NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) CCTAGAAGAACTATCATTTTT 0.368000 7 33 1.12685e-05 1.22579e-05 0.047766 1 0 DAW1 164781 broad.mit.edu 37 2 228758628 228758628 + Silent SNP T T G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:228758628T>G ENST00000373666.2 + 5 1071 c.435T>G c.(433-435)ccT>ccG p.P145P DAW1_ENST00000309931.2_Silent_p.P145P|DAW1_ENST00000472604.1_3'UTR|DAW1_ENST00000545118.1_Silent_p.P130P dynein assembly factor with WDR repeat domains 1 TCAACAATCCTTACGGGTGTG 0.458000 3 8 0 0 0.115264 0 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 4 48 0 0 0.150653 0 0 LINC00969 440993 broad.mit.edu 37 3 195410627 195410627 + RNA SNP A A G rs6583272 by1000genomes TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr3:195410627A>G ENST00000445430.1 + 0 1824 CCTCAGGTGCAGATTGATGAG 0.473000 4 31 0 0 0.021553 0 0 TTN 7273 broad.mit.edu 37 2 179449471 179449471 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:179449471G>A ENST00000589042.1 - 310 65121 c.64897C>T c.(64897-64899)Cgg>Tgg p.R21633W TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19992W|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19065W|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12760W|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R12568W|TTN_ENST00000359218.5_Missense_Mutation_p.R12693W NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19992 Fibronectin type-III 57. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCACGGACCCGGAAGATGTAC 0.493000 5 207 0 0 0.029380 0 0 MFAP3L 9848 broad.mit.edu 37 4 170913056 170913056 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr4:170913056C>T ENST00000361618.3 - 3 1010 c.703G>A c.(703-705)Gaa>Aaa p.E235K RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.E132K NM_021647.6 NP_067679.6 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like 235 integral to membrane|plasma membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) GCAAGCTCTTCGATGTAGCGG 0.547000 3 34 0 0 0.047766 0 0 PNMAL1 55228 broad.mit.edu 37 19 46973245 46973245 + Missense_Mutation SNP C C T rs144904720 byFrequency TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr19:46973245C>T ENST00000313683.10 - 2 1353 c.1048G>A c.(1048-1050)Gtg>Atg p.V350M PNMAL1_ENST00000438932.2_Missense_Mutation_p.V350M|PNMAL1_ENST00000602246.1_Intron NM_001103149.1|NM_018215.3 NP_001096619.1|NP_060685.2 Q86V59 PNML1_HUMAN paraneoplastic Ma antigen family-like 1 350 cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) ACCCAGGCCACGGCCTTCTTC 0.597000 50 143 0 0 0.139131 0 0 POLR3E 55718 broad.mit.edu 37 16 22334242 22334242 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr16:22334242G>A ENST00000299853.5 + 14 1225 c.1058G>A c.(1057-1059)cGa>cAa p.R353Q POLR3E_ENST00000564209.1_Missense_Mutation_p.R353Q|POLR3E_ENST00000359210.4_Missense_Mutation_p.R353Q|POLR3E_ENST00000418581.2_Missense_Mutation_p.R317Q NM_001258033.1|NM_001258035.1|NM_018119.3 NP_001244962.1|NP_001244964.1|NP_060589.1 Q9NVU0 RPC5_HUMAN polymerase (RNA) III (DNA directed) polypeptide E (80kD) 353 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.012) TGCAGGGGCCGAGACTTCGTT 0.637000 3 9 0 0 0.115264 0 0 NLRP5 126206 broad.mit.edu 37 19 56538691 56538691 + Silent SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr19:56538691C>T ENST00000390649.3 + 7 1092 c.1092C>T c.(1090-1092)ttC>ttT p.F364F NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 364 NACHT. mitochondrion|nucleolus ATP binding p.F364F(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TTGACGGTTTCGATGACCTGG 0.552000 5 21 0 0 0.014758 0 0 CP 1356 broad.mit.edu 37 3 148925350 148925350 + Missense_Mutation SNP T T A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr3:148925350T>A ENST00000264613.6 - 5 1098 c.836A>T c.(835-837)gAc>gTc p.D279V NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 279 F5/8 type A 1.|Plastocyanin-like 2. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) TTTTACTCTGTCTTCAGCACA 0.433000 13 72 0 0 0.105934 0 0 UNC79 57578 broad.mit.edu 37 14 94044289 94044289 + Silent SNP G G A rs149686132 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr14:94044289G>A ENST00000553484.1 + 18 2467 c.2313G>A c.(2311-2313)ccG>ccA p.P771P UNC79_ENST00000393151.2_Silent_p.P771P|UNC79_ENST00000555664.1_Silent_p.P771P|UNC79_ENST00000256339.4_Silent_p.P594P Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 771 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TGCGTAGTCCGTTTCGTAGCC 0.438000 14 127 0 0 0.132662 0 0 KRT38 8687 broad.mit.edu 37 17 39594556 39594556 + Silent SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr17:39594556G>A ENST00000246646.3 - 6 1029 c.1030C>T c.(1030-1032)Ctg>Ttg p.L344L NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 344 Coil 2.|Rod. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) GAGTTCTGCAGACAGTCCTTC 0.527000 5 35 0 0 0.150653 0 0 PRSS35 167681 broad.mit.edu 37 6 84233872 84233872 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr6:84233872C>T ENST00000536636.1 + 3 1057 c.712C>T c.(712-714)Cgg>Tgg p.R238W PRSS35_ENST00000369700.3_Missense_Mutation_p.R238W NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 238 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.R238W(1) breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) AAAATCTGGCCGGGGTCAGAG 0.587000 16 32 0 0 0.043863 0 0 LPHN2 23266 broad.mit.edu 37 1 82408983 82408983 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:82408983C>T ENST00000370728.1 + 8 1373 c.728C>T c.(727-729)gCc>gTc p.A243V LPHN2_ENST00000370723.1_Missense_Mutation_p.A243V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.A243V|LPHN2_ENST00000271029.4_Missense_Mutation_p.A243V|LPHN2_ENST00000370721.1_Missense_Mutation_p.A247V|LPHN2_ENST00000394879.1_Missense_Mutation_p.A243V|LPHN2_ENST00000370713.1_Missense_Mutation_p.A243V|LPHN2_ENST00000319517.6_Missense_Mutation_p.A243V|LPHN2_ENST00000370715.1_Missense_Mutation_p.A243V|LPHN2_ENST00000370725.1_Missense_Mutation_p.A243V|LPHN2_ENST00000335786.5_Missense_Mutation_p.A243V|LPHN2_ENST00000370717.2_Missense_Mutation_p.A243V|LPHN2_ENST00000359929.3_Missense_Mutation_p.A243V|LPHN2_ENST00000370727.1_Missense_Mutation_p.A243V O95490 LPHN2_HUMAN latrophilin 2 243 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AGTGGCGAGGCCATAATTAAC 0.398000 10 49 0 0 0.058154 0 0 NETO1 81832 broad.mit.edu 37 18 70526282 70526282 + Missense_Mutation SNP T T G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr18:70526282T>G ENST00000327305.6 - 4 905 c.248A>C c.(247-249)tAc>tCc p.Y83S NETO1_ENST00000397929.1_Missense_Mutation_p.Y82S|NETO1_ENST00000583169.1_Missense_Mutation_p.Y83S|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000299430.2_Missense_Mutation_p.Y82S NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 83 CUB 1. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) TTCATCAAAGTAAAGTTCAAT 0.378000 11 27 0 0 0.093190 0 0 PRDM2 7799 broad.mit.edu 37 1 14105149 14105149 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:14105149G>A ENST00000235372.7 + 8 1715 c.859G>A c.(859-861)Gat>Aat p.D287N PRDM2_ENST00000413440.1_Missense_Mutation_p.D86N|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.D287N|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.D86N|PRDM2_ENST00000376048.5_Intron NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 287 Asp/Glu-rich (acidic). EDEEEEEDDDDDELEDEG -> VGGGGGVVVVVSWKARGE (in Ref. 4; AAA87023). Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) tgatgatgatgatgagttgga 0.463000 24 58 0 0 0.076483 0 0 CBLB 868 broad.mit.edu 37 3 105456067 105456067 + Missense_Mutation SNP T T C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr3:105456067T>C ENST00000264122.4 - 8 1340 c.1019A>G c.(1018-1020)gAt>gGt p.D340G CBLB_ENST00000405772.1_Missense_Mutation_p.D340G|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000394027.3_Missense_Mutation_p.D362G|CBLB_ENST00000403724.1_Missense_Mutation_p.D340G NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 340 Cbl-PTB.|SH2-like. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 TCCAGTTAAATCAGGATTATA 0.279000 Mis S AML 6 10 0 0 0.029380 0 0 TP53 7157 broad.mit.edu 37 17 7577097 7577097 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr17:7577097C>T ENST00000420246.2 - 8 973 c.841G>A c.(841-843)Gac>Aac p.D281N TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.D281N|TP53_ENST00000269305.4_Missense_Mutation_p.D281N|TP53_ENST00000359597.4_Missense_Mutation_p.D281N|TP53_ENST00000445888.2_Missense_Mutation_p.D281N NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 281 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) GTGCGCCGGTCTCTCCCAGGA 0.547000 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) 11 22 0 0 0.069234 0 0 FCRL3 115352 broad.mit.edu 37 1 157650553 157650553 + Silent SNP A A G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:157650553A>G ENST00000368184.3 - 13 2256 c.1965T>C c.(1963-1965)ccT>ccC p.P655P FCRL3_ENST00000368186.5_Silent_p.P655P|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 655 integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) TGCTATCTCCAGGATTTACTG 0.418000 11 81 0 0 0.080935 0 0 CACNA1S 779 broad.mit.edu 37 1 201038623 201038623 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:201038623G>A ENST00000362061.3 - 18 2693 c.2467C>T c.(2467-2469)Cgg>Tgg p.R823W CACNA1S_ENST00000367338.3_Missense_Mutation_p.R823W NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 823 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GAATCAGCCCGGATGGGGTCT 0.597000 10 8 0 0 0.080935 0 0 PSD 5662 broad.mit.edu 37 10 104173681 104173681 + Silent SNP C C T rs140240917 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr10:104173681C>T ENST00000020673.5 - 5 1924 c.1398G>A c.(1396-1398)ccG>ccA p.P466P PSD_ENST00000406432.1_Silent_p.P466P NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 466 Pro-rich. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) TACCAGAATCCGGTTCAAGAG 0.672000 3 20 0 0 0.115264 0 0 KIAA1109 84162 broad.mit.edu 37 4 123192465 123192465 + Nonsense_Mutation SNP A A T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr4:123192465A>T ENST00000264501.4 + 47 8159 c.7786A>T c.(7786-7788)Aga>Tga p.R2596* KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.R2596*|KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.R2596* Q2LD37 K1109_HUMAN KIAA1109 2596 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TAAACTTAGCAGATATACAGC 0.413000 6 68 0 0 0.021553 0 0 CPPED1 55313 broad.mit.edu 37 16 12758835 12758835 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr16:12758835C>T ENST00000381774.4 - 4 1093 c.853G>A c.(853-855)Gcc>Acc p.A285T CPPED1_ENST00000261660.4_Missense_Mutation_p.R111H|CPPED1_ENST00000433677.2_Missense_Mutation_p.A143T NM_018340.2 NP_060810.2 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain containing 1 285 hydrolase activity|metal ion binding p.A285T(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1) 18 ATTTTCTCGGCGGTGACCACC 0.522000 6 14 0 0 0.029380 0 0 MAGI1 9223 broad.mit.edu 37 3 65415696 65415696 + Missense_Mutation SNP A A C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr3:65415696A>C ENST00000330909.8 - 12 1665 c.1666T>G c.(1666-1668)Tat>Gat p.Y556D MAGI1_ENST00000483466.1_Missense_Mutation_p.Y556D|MAGI1_ENST00000497477.2_Missense_Mutation_p.Y556D|MAGI1_ENST00000402939.2_Missense_Mutation_p.Y556D NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 556 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GGCAATGGATAACCTCGGCAG 0.463000 7 42 0 0 0.029380 0 0 TBX15 6913 broad.mit.edu 37 1 119467377 119467377 + Missense_Mutation SNP T T A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:119467377T>A ENST00000369429.3 - 4 594 c.585A>T c.(583-585)agA>agT p.R195S TBX15_ENST00000207157.3_Missense_Mutation_p.R89S Q96SF7 TBX15_HUMAN T-box 15 195 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) GTATATAAACTCTTGGGGGCA 0.453000 48 202 0 0 0.139131 0 0 C2orf71 388939 broad.mit.edu 37 2 29296670 29296670 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:29296670G>A ENST00000331664.5 - 1 457 c.458C>T c.(457-459)aCg>aTg p.T153M NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 153 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 TGTGCTTGACGTGTGACATTT 0.517000 13 35 0 0 0.093190 0 0 PEX11B 8799 broad.mit.edu 37 1 145522602 145522602 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:145522602C>T ENST00000369306.3 + 4 612 c.463C>T c.(463-465)Cgg>Tgg p.R155W PEX11B_ENST00000537888.1_Missense_Mutation_p.R141W NM_003846.2 NP_003837.1 O96011 PX11B_HUMAN peroxisomal biogenesis factor 11 beta 155 peroxisome fission|signal transduction integral to peroxisomal membrane protein binding breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGCTTGTAGCCGGCGACTGAA 0.527000 47 62 0 0 0.139131 0 0 PPT2 9374 broad.mit.edu 37 6 32130686 32130686 + Missense_Mutation SNP C C T rs144778647 by1000genomes TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr6:32130686C>T ENST00000324816.6 + 9 1436 c.868C>T c.(868-870)Cgt>Tgt p.R290C PPT2_ENST00000361568.2_Missense_Mutation_p.R296C|PPT2_ENST00000395523.1_Missense_Mutation_p.R290C|PPT2-EGFL8_ENST00000422437.1_Intron|PPT2_ENST00000375137.2_Missense_Mutation_p.R290C|PPT2_ENST00000445576.2_Intron|PPT2-EGFL8_ENST00000453656.2_Intron|PPT2_ENST00000375143.2_Missense_Mutation_p.R290C|PPT2_ENST00000437001.2_Intron Q9UMR5 PPT2_HUMAN palmitoyl-protein thioesterase 2 290 protein modification process lysosome palmitoyl-(protein) hydrolase activity NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1) 17 GCACTCCAACCGTACCCTTTA 0.552000 31 155 0 0 0.183431 0 0 MYO1F 4542 broad.mit.edu 37 19 8587292 8587292 + Silent SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr19:8587292G>A ENST00000338257.8 - 27 3456 c.3189C>T c.(3187-3189)aaC>aaT p.N1063N NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 1063 SH3. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CCTCGTTCACGTTGAAGCTCA 0.622000 3 25 0 0 0.150653 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104961395 104961395 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chrX:104961395G>A ENST00000372582.1 + 7 1564 c.808G>A c.(808-810)Gga>Aga p.G270R IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G270R NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 270 Ig-like C2-type 3. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 AGCATTCTTCGGATTCAGTGG 0.438000 39 81 0 0 0.092188 0 0 CFHR3 10878 broad.mit.edu 37 1 196759231 196759231 + Missense_Mutation SNP T T A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:196759231T>A ENST00000367425.4 + 5 762 c.670T>A c.(670-672)Ttt>Att p.F224I CFHR3_ENST00000391985.3_Missense_Mutation_p.F163I NM_021023.5 NP_066303.2 complement factor H-related 3 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 TACCACCTCCTTTCTACTAAA 0.388000 14 41 0 0 0.108266 0 0 CMYA5 202333 broad.mit.edu 37 5 79086882 79086882 + Missense_Mutation SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr5:79086882C>T ENST00000446378.2 + 11 11810 c.11779C>T c.(11779-11781)Cgg>Tgg p.R3927W CTC-431G16.2_ENST00000421252.2_RNA NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3927 B30.2/SPRY. R -> Q (in dbSNP:rs1129770). perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TGAGAGGAGACGGCTGACGGA 0.517000 3 21 0 0 0.115264 0 0 MXRA5 25878 broad.mit.edu 37 X 3241359 3241359 + Missense_Mutation SNP T T G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chrX:3241359T>G ENST00000217939.6 - 5 2521 c.2367A>C c.(2365-2367)aaA>aaC p.K789N NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 789 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TCCCACGGACTTTGGCTAAAA 0.458000 10 131 0 0 0.069234 0 0 LINC01410 103352539 broad.mit.edu 37 9 66459873 66459873 + RNA SNP C C T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr9:66459873C>T ENST00000424345.1 + 0 133 ggtgttgatgctagtagatgt 0.373000 3 38 0 0 0.150653 0 0 SCMH1 22955 broad.mit.edu 37 1 41579129 41579129 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:41579129G>A ENST00000402904.2 - 8 909 c.541C>T c.(541-543)Cct>Tct p.P181S SCMH1_ENST00000397171.2_Missense_Mutation_p.P120S|SCMH1_ENST00000361191.5_Missense_Mutation_p.P120S|SCMH1_ENST00000397174.2_Missense_Mutation_p.P161S|SCMH1_ENST00000361705.3_Missense_Mutation_p.P134S|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000372597.1_Missense_Mutation_p.P134S|SCMH1_ENST00000372595.1_Missense_Mutation_p.P120S|SCMH1_ENST00000372596.1_Missense_Mutation_p.P120S|SCMH1_ENST00000337495.5_Missense_Mutation_p.P191S|SCMH1_ENST00000326197.7_Missense_Mutation_p.P181S NM_001031694.2 NP_001026864.1 Q96GD3 SCMH1_HUMAN sex comb on midleg homolog 1 (Drosophila) 181 anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) ATGAAATGAGGGTTCTTCCTG 0.512000 11 29 0 0 0.069234 0 0 ERCC6L 54821 broad.mit.edu 37 X 71425005 71425005 + Silent SNP T T C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chrX:71425005T>C ENST00000373657.1 - 3 3845 c.3243A>G c.(3241-3243)gtA>gtG p.V1081V PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Silent_p.V1204V Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 1204 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) TTCCACGCTTTACAAGAGTCT 0.463000 11 62 0 0 0.069234 0 0 KCNT2 343450 broad.mit.edu 37 1 196227504 196227504 + Missense_Mutation SNP G G A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:196227504G>A ENST00000367433.5 - 25 3060 c.2959C>T c.(2959-2961)Cgg>Tgg p.R987W KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.R1011W|KCNT2_ENST00000367431.4_Missense_Mutation_p.R945W Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 1011 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 CTTTTTCTCCGCAGCAAGGGA 0.512000 7 28 0 0 0.038147 0 0 LOC284632 284632 broad.mit.edu 37 1 24533206 24533206 + RNA DEL G G - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:24533206delG ENST00000439059.2 + 0 288 NR_027087.2 CTAGAGGCCAGGGCAGAAAGC 0.587 2 4 --- --- --- --- SLC16A1-AS1 100506392 broad.mit.edu 37 1 113520589 113520589 + RNA DEL A A - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:113520589delA ENST00000435800.2 + 0 627 acttcgtctcaaaaaaaaaaa 0.552 2 4 --- --- --- --- RP11-640M9.2 0 broad.mit.edu 37 1 144595647 144595647 + RNA DEL T T - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:144595647delT ENST00000419820.1 + 0 439 aatctttttatccagttttca 0.308 2 4 --- --- --- --- RP11-640M9.2 0 broad.mit.edu 37 1 144597983 144597991 + RNA DEL CAGATAGAC CAGATAGAC - rs111294330 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:144597983_144597991delCAGATAGAC ENST00000419820.1 + 0 439 TATACGTGTACAGATAGACCAGATAGACC 0.402 4 4 --- --- --- --- PDE4DIP 9659 broad.mit.edu 37 1 145014186 145014187 + Frame_Shift_Ins INS - - A rs142142861 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:145014186_145014187insA ENST00000493130.2 - 4 516_517 c.355_356insT c.(355-357)accfs p.T119fs PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000530740.1_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCCAAAAGGTGAAAAAAAAAAA 0.510 T PDGFRB MPD 2 4 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145107771 145107774 + RNA DEL AAAT AAAT - rs3977178 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:145107771_145107774delAAAT ENST00000453618.1 + 0 512 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding agcaaaaaacaaataaccccattt 0.309 4 6 --- --- --- --- LOC101928565 101928565 broad.mit.edu 37 1 168435505 168435506 + RNA INS - - T rs55921453 by1000genomes TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:168435505_168435506insT ENST00000422253.1 - 0 359 AGGAAGGGGAATGCTTTTCATT 0.441 4 4 --- --- --- --- RP11-323I1.1 0 broad.mit.edu 37 1 213923251 213923252 + RNA INS - - G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr1:213923251_213923252insG ENST00000456240.1 + 0 143 CAGGAAGGTTAGCGGGGAACAT 0.455 2 4 --- --- --- --- AC105393.1 0 broad.mit.edu 37 2 409412 409412 + RNA DEL A A - rs11328094 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:409412delA ENST00000431911.1 + 0 186 aaacaacaacaaaaaaaaCCA 0.512 5 2 --- --- --- --- LINC01115 339822 broad.mit.edu 37 2 808217 808217 + RNA DEL T T - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:808217delT ENST00000414556.1 - 0 548 NR_033880.1 tttcttgaccttgtgatctgc 0.448 2 4 --- --- --- --- LOC100506457 100506457 broad.mit.edu 37 2 12208946 12208947 + RNA INS - - A rs34909473 by1000genomes TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:12208946_12208947insA ENST00000412294.1 + 0 197 tccccgaacttaaaaaaaaaag 0.431 6 1 --- --- --- --- LOC100506457 100506457 broad.mit.edu 37 2 12439880 12439881 + RNA DEL AG AG - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:12439880_12439881delAG ENST00000412294.1 + 0 315 gaggtgagacagagagagagag 0.436 3 4 --- --- --- --- AC068490.2 0 broad.mit.edu 37 2 22727578 22727579 + RNA INS - - AGAG TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:22727578_22727579insAGAG ENST00000450551.1 - 0 70 gacagtgagtcagagagagaca 0.366 2 4 --- --- --- --- LOC100505774 100505774 broad.mit.edu 37 2 28951499 28951501 + RNA DEL AAC AAC - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:28951499_28951501delAAC ENST00000452212.1 - 0 179 AC097724.3_ENST00000444501.1_RNA|AC097724.3_ENST00000428036.1_RNA tgtctcgaaaaacaacaacaaca 0.438 4 4 --- --- --- --- AC009229.5 0 broad.mit.edu 37 2 38443256 38443261 + RNA DEL TGTTTG TGTTTG - rs74869664 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:38443256_38443261delTGTTTG ENST00000450854.1 - 0 533 ggtgtttttttgtttgtgtttgtgtt 0.374 2 4 --- --- --- --- LOC730100 730100 broad.mit.edu 37 2 51425495 51425495 + RNA DEL A A - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:51425495delA ENST00000440698.1 + 0 514 AGCAGGTATCAAGCACAACAT 0.428 2 4 --- --- --- --- LOC730100 730100 broad.mit.edu 37 2 51641525 51641526 + RNA INS - - GT TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:51641525_51641526insGT ENST00000440698.1 + 0 694 AATATGCTAAAGTGTGTGTGTG 0.347 2 4 --- --- --- --- LOC730100 730100 broad.mit.edu 37 2 51644170 51644171 + RNA INS - - C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:51644170_51644171insC ENST00000440698.1 + 0 694 gtcataagacaccccccattcc 0.406 2 4 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 59656451 59656451 + RNA DEL T T - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:59656451delT ENST00000606382.1 - 0 433 acgatctgaattttttttttt 0.423 3 5 --- --- --- --- AC084193.1 0 broad.mit.edu 37 2 80946485 80946485 + RNA DEL A A - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:80946485delA ENST00000450290.1 - 0 468 tagtggttctaaccatcccca 0.478 2 4 --- --- --- --- LINC00152 112597 broad.mit.edu 37 2 87754980 87754981 + RNA INS - - T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:87754980_87754981insT ENST00000409054.1 + 0 94_95 NR_015395.1 AGGTGTGCGCCTTTTTTTTTTT 0.431 2 4 --- --- --- --- AC092684.1 0 broad.mit.edu 37 2 164876099 164876099 + RNA DEL C C - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:164876099delC ENST00000429636.1 - 0 196 ttattcctcacccccctccca 0.428 3 3 --- --- --- --- SCN9A 6335 broad.mit.edu 37 2 167168127 167168127 + Frame_Shift_Del DEL G G - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:167168127delG ENST00000375387.4 - 2 480 c.140delC c.(139-141)cafs p.P47fs SCN9A_ENST00000409672.1_Frame_Shift_Del_p.P47fs|SCN9A_ENST00000303354.6_Frame_Shift_Del_p.P47fs|SCN9A_ENST00000409435.1_Frame_Shift_Del_p.P47fs Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 47 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) GCTTGGCTTTGGGGCTTCTTC 0.488 27 120 --- --- --- --- FSIP2 401024 broad.mit.edu 37 2 186665039 186665039 + Frame_Shift_Del DEL A A - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:186665039delA ENST00000343098.5 + 17 11273 c.11273delA c.(11272-11274)cafs p.Q3758fs FSIP2_ENST00000424728.1_Frame_Shift_Del_p.Q3669fs NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CAACTTTTTCAAAAAAATAAG 0.323 2 4 --- --- --- --- AC018717.1 0 broad.mit.edu 37 2 199885954 199885955 + RNA INS - - GT rs77536519 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:199885954_199885955insGT ENST00000456031.1 - 0 114 tgtgtgtgtgcgtgtgtgtgtg 0.450 2 4 --- --- --- --- AC007563.5 0 broad.mit.edu 37 2 217816106 217816107 + RNA INS - - A rs143950283 by1000genomes TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr2:217816106_217816107insA ENST00000447289.1 + 0 510 AC007563.5_ENST00000607591.1_RNA cattctttttttggctgcatag 0.351 5 3 --- --- --- --- SATB1-AS1 101927777 broad.mit.edu 37 3 18933610 18933611 + RNA DEL CT CT - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr3:18933610_18933611delCT ENST00000425799.2 + 0 463 ctctccctcgctctctctctct 0.465 2 4 --- --- --- --- AC018359.1 0 broad.mit.edu 37 3 34295726 34295737 + RNA DEL AAAAAAAAAAAA AAAAAAAAAAAA - rs68057677 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr3:34295726_34295737delAAAAAAAAAAAA ENST00000424786.1 + 0 159 AC123023.1_ENST00000455974.1_lincRNA aaactcctttaaaaaaaaaaaaaaaaaaaaaa 0.401 2 4 --- --- --- --- RP11-719N22.2 0 broad.mit.edu 37 3 59458472 59458472 + RNA DEL G G - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr3:59458472delG ENST00000486137.1 - 0 287 TTCATTCACTGGGGGAAGAAA 0.423 2 4 --- --- --- --- AC136289.1 0 broad.mit.edu 37 3 63779849 63779850 + RNA DEL AC AC - rs34728435 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr3:63779849_63779850delAC ENST00000443346.1 - 0 622 acacacacatacacacacacac 0.455 2 4 --- --- --- --- SUCLG2-AS1 101927111 broad.mit.edu 37 3 67991797 67991798 + RNA INS - - C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr3:67991797_67991798insC ENST00000482677.1 + 0 1653 ttcttctgcctcccccccttct 0.465 3 5 --- --- --- --- RP11-190P13.2 0 broad.mit.edu 37 3 114974578 114974578 + RNA DEL A A - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr3:114974578delA ENST00000459855.1 + 0 115 cggaaaacccaaaaggccaga 0.483 2 4 --- --- --- --- LOC101927123 101927123 broad.mit.edu 37 3 127101867 127101867 + RNA DEL G G - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr3:127101867delG ENST00000488425.1 - 0 225 cctaaggcaaggggtgctatt 0.527 2 4 --- --- --- --- CTBP1-AS2 92070 broad.mit.edu 37 4 1262349 1262350 + RNA INS - - TG rs141580004 by1000genomes TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr4:1262349_1262350insTG ENST00000578730.1 + 0 2372 gatgttagctctgtgtgtgtgt 0.490 5 2 --- --- --- --- LOC101929095 101929095 broad.mit.edu 37 4 15184306 15184307 + RNA INS - - G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr4:15184306_15184307insG ENST00000502344.1 - 0 154 RP11-665G4.1_ENST00000513384.1_RNA aaacccagggtggggggcacag 0.505 2 4 --- --- --- --- RP11-227F19.1 0 broad.mit.edu 37 4 41825720 41825720 + RNA DEL A A - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr4:41825720delA ENST00000508038.1 + 0 671 actctgtctcaaaaaaaaaaa 0.403 2 4 --- --- --- --- IGFBP7-AS1 255130 broad.mit.edu 37 4 58053425 58053426 + RNA INS - - AC rs112034412 by1000genomes TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr4:58053425_58053426insAC ENST00000499667.2 + 0 209 RP11-12A1.1_ENST00000508328.1_RNA|RP11-12A1.1_ENST00000515865.1_RNA NR_034081.1 aagaattcagaacacacacaca 0.366 3 4 --- --- --- --- RP11-506N2.1 0 broad.mit.edu 37 4 59812179 59812180 + RNA INS - - T rs111536593 by1000genomes TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr4:59812179_59812180insT ENST00000513551.1 - 0 236 caaattcattgtttttttttta 0.337 2 4 --- --- --- --- RPL34-AS1 285456 broad.mit.edu 37 4 109467732 109467733 + RNA INS - - G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr4:109467732_109467733insG ENST00000507248.1 - 0 890 NR_026968.1 TTGAACAGCTTGGGGGTTGCTG 0.446 2 4 --- --- --- --- LINC01378 103689918 broad.mit.edu 37 4 118583625 118583626 + RNA INS - - A rs138494530 by1000genomes TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr4:118583625_118583626insA ENST00000422145.3 + 0 263 ccatcattcccaaaaaaacatg 0.322 3 4 --- --- --- --- RP11-427M20.1 0 broad.mit.edu 37 4 134818162 134818163 + RNA INS - - A rs10717687 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr4:134818162_134818163insA ENST00000507844.1 - 0 223 ggagagaagagaaaaaaaaaaa 0.381 2 4 --- --- --- --- DCHS2 54798 broad.mit.edu 37 4 155244402 155244405 + Frame_Shift_Del DEL TTTG TTTG - rs112727159 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr4:155244402_155244405delTTTG ENST00000339452.1 - 8 4455_4458 c.4095_4098delCAAA c.(4093-4098)aafs p.NK1365fs DCHS2_ENST00000357232.3_Intron NM_001142552.1 NP_001136024.1 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1234 Cadherin 11. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) aggtCAGGATtttgtttgtttgtt 0.377 3 4 --- --- --- --- GUSBP1 728411 broad.mit.edu 37 5 21544716 21544717 + RNA DEL AT AT - rs145084669 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr5:21544716_21544717delAT ENST00000607545.1 + 0 314 NR_027026.1 GACCAGAACAATATAGTACAAT 0.366 3 3 --- --- --- --- RP11-184E9.1 0 broad.mit.edu 37 5 25214763 25214764 + RNA DEL AC AC - rs3857316 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr5:25214763_25214764delAC ENST00000502100.2 + 0 352 gcttgcagatacacacacacac 0.401 2 4 --- --- --- --- CTD-2023N9.1 0 broad.mit.edu 37 5 56737960 56737961 + RNA DEL TG TG - rs10586343 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr5:56737960_56737961delTG ENST00000506106.1 + 0 119 TTTGCtgtgctgtgtgtgtgtg 0.406 2 4 --- --- --- --- LINC01331 104310351 broad.mit.edu 37 5 73719218 73719221 + RNA DEL AAAG AAAG - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr5:73719218_73719221delAAAG ENST00000507781.1 - 0 422 AAAGAAAGACaaagaaagaaagaa 0.412 3 3 --- --- --- --- CTC-498M16.4 0 broad.mit.edu 37 5 87787803 87787803 + RNA DEL A A - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr5:87787803delA ENST00000504034.2 - 0 25 TTCCCTCTGGAAAAAAAAAAA 0.348 2 4 --- --- --- --- CTD-2007H13.3 0 broad.mit.edu 37 5 98290528 98290528 + RNA DEL C C - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr5:98290528delC ENST00000513175.1 + 0 141 GTCTGTCCTTCATTGACTGCC 0.517 2 4 --- --- --- --- APC 324 broad.mit.edu 37 5 112175752 112175752 + Frame_Shift_Del DEL T T - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr5:112175752delT ENST00000457016.1 + 16 4841 c.4461delT c.(4459-4461)acfs p.T1487fs APC_ENST00000257430.4_Frame_Shift_Del_p.T1487fs|APC_ENST00000508376.2_Frame_Shift_Del_p.T1487fs|CTC-554D6.1_ENST00000520401.1_Intron P25054 APC_HUMAN adenomatous polyposis coli 1487 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.T1487fs*17(10)|p.L1488fs*19(7)|p.L1488fs*26(5)|p.L1488fs*18(1)|p.?(1)|p.K1454fs*3(1)|p.T1487fs*25(1)|p.T1487T(1)|p.K1192fs*3(1)|p.T1487fs*23(1)|p.L1488fs*20(1)|p.L1488fs*21(1)|p.L1488fs*23(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) ATGCTGATACTTTATTACATT 0.443 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 14 48 --- --- --- --- LOC102546294 102546294 broad.mit.edu 37 5 147685319 147685320 + RNA DEL TG TG - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr5:147685319_147685320delTG ENST00000501695.3 - 0 591 AGCTGGGAGCtgtgtgtgtgtg 0.455 2 4 --- --- --- --- LINC01411 101928176 broad.mit.edu 37 5 173830194 173830194 + RNA DEL T T - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr5:173830194delT ENST00000510234.1 + 0 82 Ttttcttttcttttttttttt 0.468 3 3 --- --- --- --- LY86-AS1 285780 broad.mit.edu 37 6 6507756 6507759 + RNA DEL AAGG AAGG - rs71732744 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr6:6507756_6507759delAAGG ENST00000435641.1 - 0 482 LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000447858.1_RNA aggagagagaaaggaaggaaggaa 0.348 3 5 --- --- --- --- RP11-716O23.2 0 broad.mit.edu 37 6 11491237 11491238 + RNA DEL TA TA - rs59042046 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr6:11491237_11491238delTA ENST00000423149.1 + 0 417 tgtgtgtgtctatgtgcgtgca 0.485 5 5 --- --- --- --- TDRG1 732253 broad.mit.edu 37 6 40314879 40314879 + RNA DEL C C - rs66692453 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr6:40314879delC ENST00000451810.1 + 0 313 TDRG1_ENST00000448559.1_RNA TAGACCTGATCCCCCACATGA 0.527 9 3 --- --- --- --- LOC101927082 101927082 broad.mit.edu 37 6 51476169 51476170 + RNA INS - - A rs140463758 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr6:51476169_51476170insA ENST00000589278.1 + 0 731 RP3-335N17.2_ENST00000454361.1_RNA aagacttggtcaaaaaaaaaaa 0.540 4 3 --- --- --- --- LOC101928307 101928307 broad.mit.edu 37 6 69344215 69344221 + RNA DEL CCTTTTT CCTTTTT - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr6:69344215_69344221delCCTTTTT ENST00000604392.1 - 0 698_704 RP3-525N10.2_ENST00000603261.1_RNA|RP3-525N10.2_ENST00000419979.1_RNA ATCCCTTTTCCCTTTTTCCTTTCTATA 0.406 4 4 --- --- --- --- RP11-351A11.1 0 broad.mit.edu 37 6 119268430 119268432 + RNA DEL ATC ATC - rs77458334 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr6:119268430_119268432delATC ENST00000518570.1 + 0 206 gacaaaacttatcaaaacctctg 0.340 2 4 --- --- --- --- RP11-138M12.1 0 broad.mit.edu 37 6 125758765 125758765 + RNA DEL G G - rs34044752 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr6:125758765delG ENST00000430672.1 - 0 162 aaaaaaaaaagattagatgag 0.413 4 2 --- --- --- --- LOC100507406 100507406 broad.mit.edu 37 6 138054863 138054864 + RNA INS - - T rs113843461 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr6:138054863_138054864insT ENST00000411615.1 - 0 275 AACCTTGACACttttttttttt 0.455 3 6 --- --- --- --- RP11-503C24.1 0 broad.mit.edu 37 6 168604993 168604994 + RNA INS - - G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr6:168604993_168604994insG ENST00000457340.1 + 0 331 tacagggggatgggggGCCCTA 0.520 3 4 --- --- --- --- FAM126A 84668 broad.mit.edu 37 7 22936607 22936607 + RNA DEL G G - rs57885287 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr7:22936607delG ENST00000421730.1 - 0 137 aagtgtaagagggaggcaaag 0.483 4 2 --- --- --- --- AC073325.1 0 broad.mit.edu 37 7 45542534 45542534 + RNA DEL A A - rs112431031 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr7:45542534delA ENST00000443714.1 + 0 259 ggcaaaaaggaaaaaaaaaaa 0.468 2 4 --- --- --- --- RP11-467H10.2 0 broad.mit.edu 37 7 76679379 76679380 + RNA INS - - CT rs113718280 by1000genomes TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr7:76679379_76679380insCT ENST00000459742.1 + 0 58 acagagcaagactgtctccaaa 0.416 2 4 --- --- --- --- DLX6-AS1 285987 broad.mit.edu 37 7 96608206 96608207 + RNA INS - - T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr7:96608206_96608207insT ENST00000430027.2 - 0 837_838 DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA NR_015448.1 CTTCCTCTTCATTTTCCTTACT 0.371 2 4 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100373941 100373948 + RNA DEL AGGGAGGG AGGGAGGG - rs3991185 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr7:100373941_100373948delAGGGAGGG ENST00000542585.1 + 0 6337 ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) actTGAaggaagggagggagggagggag 0.553 4 6 --- --- --- --- LINC-PINT 378805 broad.mit.edu 37 7 130693477 130693477 + RNA DEL A A - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr7:130693477delA ENST00000451786.1 - 0 1655 AAGAAATTCCAAAGCACTATT 0.333 2 4 --- --- --- --- RP11-728K20.2 0 broad.mit.edu 37 7 149700258 149700259 + RNA INS - - TT TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr7:149700258_149700259insTT ENST00000565102.1 + 0 2327 gtgtgtgtgtgtgtggtgtgta 0.475 3 4 --- --- --- --- RP11-941H19.3 0 broad.mit.edu 37 8 81192735 81192736 + RNA INS - - A rs144312229 by1000genomes TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr8:81192735_81192736insA ENST00000522044.1 + 0 218 tcgtgtgtgggaagcctttggg 0.396 6 5 --- --- --- --- CNBD1 168975 broad.mit.edu 37 8 88571817 88571820 + RNA DEL AGAA AGAA - rs3082607 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr8:88571817_88571820delAGAA ENST00000440763.2 - 0 205 agacacagagagaaagaaagaaag 0.353 3 4 --- --- --- --- CASC8 727677 broad.mit.edu 37 8 128466629 128466644 + RNA DEL TTAACCCATTCTATTA TTAACCCATTCTATTA - rs56994994 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr8:128466629_128466644delTTAACCCATTCTATTA ENST00000502082.1 - 0 1041 CASC8_ENST00000502056.1_RNA TGTTATGGCCTTAACCCATTCTATTATGCCTCCAAG 0.407 3 3 --- --- --- --- CCDC26 137196 broad.mit.edu 37 8 130413859 130413860 + RNA INS - - A rs147516046 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr8:130413859_130413860insA ENST00000446592.3 - 0 360 attaaaaagttaaaaaaaaaaa 0.322 2 4 --- --- --- --- CTD-2588J1.1 0 broad.mit.edu 37 8 134801142 134801143 + RNA DEL TC TC - rs5895207 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr8:134801142_134801143delTC ENST00000517695.1 + 0 154 AAAATGGAGAtctctctctctc 0.376 3 4 --- --- --- --- RP11-149P24.1 0 broad.mit.edu 37 8 137118147 137118147 + RNA DEL T T - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr8:137118147delT ENST00000523150.1 + 0 330 CAGGGCAGAATCCATCAGATG 0.458 2 4 --- --- --- --- LOC101930053 101930053 broad.mit.edu 37 9 2525942 2525943 + RNA INS - - TCTC rs140398159 by1000genomes TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr9:2525942_2525943insTCTC ENST00000416826.2 - 0 434 ctttctctctttctctctctct 0.446 3 2 --- --- --- --- VLDLR-AS1 401491 broad.mit.edu 37 9 2584752 2584753 + RNA INS - - G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr9:2584752_2584753insG ENST00000416826.2 - 0 185 RP11-125B21.2_ENST00000453601.1_RNA aaaacatatttgggggaataat 0.386 2 4 --- --- --- --- MIR31HG 554202 broad.mit.edu 37 9 21513701 21513705 + RNA DEL AGGCT AGGCT - rs56812146 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr9:21513701_21513705delAGGCT ENST00000304425.3 - 0 181 NR_027054.1 TCTTGTCCTGAGGCTAGGTAACTTG 0.395 5 7 --- --- --- --- RP11-764K9.1 0 broad.mit.edu 37 9 68406993 68406994 + RNA INS - - AA rs142369550 by1000genomes TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr9:68406993_68406994insAA ENST00000417843.2 - 0 224 taagggtagggaaagagtctgt 0.446 3 6 --- --- --- --- LINC00709 100507163 broad.mit.edu 37 10 9323424 9323424 + RNA DEL T T - rs146309697 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr10:9323424delT ENST00000458168.1 + 0 28 TGCCTTCTGCttttttttttt 0.393 3 5 --- --- --- --- RP11-135D11.2 0 broad.mit.edu 37 10 61365215 61365216 + RNA INS - - CTAAA rs148496396 by1000genomes TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr10:61365215_61365216insCTAAA ENST00000450677.1 + 0 419 tgAAAAGAAAGCTAAATTTCAT 0.351 2 4 --- --- --- --- LOC102724589 102724589 broad.mit.edu 37 10 116754571 116754572 + RNA INS - - C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr10:116754571_116754572insC ENST00000433085.1 + 0 129 CTAGGCTGTAACCCCCACCATC 0.550 2 4 --- --- --- --- TCERG1L 256536 broad.mit.edu 37 10 132891433 132891433 + Frame_Shift_Del DEL T T - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr10:132891433delT ENST00000368642.4 - 12 1838 c.1753delA c.(1753-1755)tgfs p.M585fs NM_174937.3 NP_777597.2 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 585 cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) ACTCATCTCATTTTCCGCAGC 0.517 10 35 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14102302 14102302 + RNA DEL T T - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr11:14102302delT ENST00000310358.7 + 0 1211 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) TCAGCATGCCTTTTTTTTACT 0.478 2 4 --- --- --- --- RP1-65P5.1 0 broad.mit.edu 37 11 32268692 32268693 + RNA DEL GG GG - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr11:32268692_32268693delGG ENST00000525689.1 - 0 122 aaggtcttcaggggcaataatc 0.460 2 4 --- --- --- --- RP11-718B12.2 0 broad.mit.edu 37 11 82504288 82504289 + RNA DEL AC AC - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr11:82504288_82504289delAC ENST00000526305.1 + 0 63 acacacataaacacacacacac 0.480 2 4 --- --- --- --- LOC283440 283440 broad.mit.edu 37 12 2877533 2877533 + RNA DEL C C - rs74199312 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr12:2877533delC ENST00000536497.1 - 0 147 RP11-885B4.1_ENST00000540093.1_lincRNA NR_033958.1 gtgaacccctcaaagccaggt 0.522 9 86 --- --- --- --- LOC283440 283440 broad.mit.edu 37 12 2877627 2877627 + RNA DEL C C - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr12:2877627delC ENST00000536497.1 - 0 147 RP11-885B4.1_ENST00000540093.1_lincRNA NR_033958.1 gtgaacccctcaaagccaggT 0.542 14 148 --- --- --- --- LOC101930452 101930452 broad.mit.edu 37 12 9548694 9548695 + RNA INS - - TG rs71929516 by1000genomes TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr12:9548694_9548695insTG ENST00000567749.1 + 0 2869_2870 acattcgcgcctgtgtgtgtgt 0.495 2 4 --- --- --- --- RP11-4N23.1 0 broad.mit.edu 37 12 13681415 13681415 + RNA DEL A A - rs112849187 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr12:13681415delA ENST00000535528.1 + 0 94 TCTAACCTATAAAATGGGAGT 0.323 5 3 --- --- --- --- RP11-90C1.1 0 broad.mit.edu 37 12 78835362 78835362 + RNA DEL T T - rs71941566 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr12:78835362delT ENST00000547569.1 - 0 812 RP11-754N21.1_ENST00000548963.1_lincRNA AAAGATAATCTTTTTTTTTTT 0.343 2 4 --- --- --- --- LOC643339 643339 broad.mit.edu 37 12 93747318 93747318 + RNA DEL A A - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr12:93747318delA ENST00000552835.1 - 0 280 RP11-486A14.2_ENST00000549806.1_RNA|RP11-486A14.2_ENST00000548890.1_RNA CAACCACTAGAAAAAAAAAtt 0.453 2 4 --- --- --- --- EEF1DP3 196549 broad.mit.edu 37 13 32519869 32519869 + RNA DEL T T - rs139284204 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr13:32519869delT ENST00000428783.1 + 0 158 CAACTGATGGTTTTTTTTTTT 0.403 4 3 --- --- --- --- RP11-114G1.2 0 broad.mit.edu 37 13 90139450 90139451 + RNA DEL AC AC - rs62683560 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr13:90139450_90139451delAC ENST00000425048.1 - 0 136 CCTTCTCTCAacacacacacac 0.366 3 5 --- --- --- --- LINC00410 144776 broad.mit.edu 37 13 91568280 91568280 + RNA DEL T T - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr13:91568280delT ENST00000419272.1 - 0 117 NR_027039.1 ATGGAAGCTCTTTTTTTTGCA 0.388 2 4 --- --- --- --- LINC00871 100506412 broad.mit.edu 37 14 46964691 46964692 + RNA INS - - T TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr14:46964691_46964692insT ENST00000556886.1 + 0 349 NR_102701.1 AGTCTTGGTCCTTTTTTTCAGT 0.391 2 4 --- --- --- --- RP11-2G1.1 0 broad.mit.edu 37 14 48904559 48904560 + RNA DEL TC TC - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr14:48904559_48904560delTC ENST00000555693.1 - 0 123 acttcctccttctctctctctc 0.525 4 2 --- --- --- --- LOC100128233 100128233 broad.mit.edu 37 14 65683107 65683108 + RNA INS - - G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr14:65683107_65683108insG ENST00000531609.1 - 0 408 NR_103769.1 TCAGACTATCTGGGGGGAAAAG 0.431 2 4 --- --- --- --- RP11-789A21.1 0 broad.mit.edu 37 14 85689390 85689391 + RNA INS - - A TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr14:85689390_85689391insA ENST00000556016.1 - 0 209 CTGCAACTTTTAAAAATCACTG 0.416 2 4 --- --- --- --- GPR65 8477 broad.mit.edu 37 14 88478143 88478143 + Frame_Shift_Del DEL C C - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr14:88478143delC ENST00000267549.3 + 2 1510 c.952delC c.(952-954)aafs p.Q318fs RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 318 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 ATCACAAAGACAAAGAAAACG 0.358 11 43 --- --- --- --- RP11-403B2.7 0 broad.mit.edu 37 15 20941993 20941993 + RNA DEL A A - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr15:20941993delA ENST00000564214.1 - 0 254 ttctgaaaagaaaaaaaaaaa 0.348 3 5 --- --- --- --- DPH6-AS1 100507466 broad.mit.edu 37 15 36016208 36016209 + RNA DEL AG AG - rs113843236 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr15:36016208_36016209delAG ENST00000501169.2 + 0 462 NR_038251.1 agagcgagaaagagagcgaaag 0.361 3 3 --- --- --- --- RP11-507B12.2 0 broad.mit.edu 37 15 61825595 61825595 + RNA DEL A A - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr15:61825595delA ENST00000559783.1 - 0 123 TAGATGAGAGAAAAGGCCTCA 0.448 2 4 --- --- --- --- RP11-507B12.2 0 broad.mit.edu 37 15 61851993 61851994 + RNA DEL TT TT - rs56156446 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr15:61851993_61851994delTT ENST00000559783.1 - 0 123 cttctatctcttttccacctct 0.455 3 5 --- --- --- --- RP11-798K3.2 0 broad.mit.edu 37 15 67349063 67349064 + RNA INS - - T rs112364779 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr15:67349063_67349064insT ENST00000558071.1 - 0 114 tcttctctctcttttttttttt 0.455 2 4 --- --- --- --- RP11-1006G14.1 0 broad.mit.edu 37 15 72909977 72909978 + RNA INS - - G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr15:72909977_72909978insG ENST00000563464.1 + 0 1827_1828 RP11-1006G14.2_ENST00000565305.1_lincRNA tgtgcttctgtggggggaaGCC 0.465 2 4 --- --- --- --- RP11-382A20.4 0 broad.mit.edu 37 15 84099378 84099379 + RNA INS - - C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr15:84099378_84099379insC ENST00000565495.1 + 0 264 TTCCAATCCCACCCCCCCCTTA 0.490 2 4 --- --- --- --- RP11-142A12.1 0 broad.mit.edu 37 16 26740279 26740280 + RNA DEL TC TC - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr16:26740279_26740280delTC ENST00000562900.1 + 0 549_550 TCGCTTGCTTTCTCTCTCTCTC 0.431 2 4 --- --- --- --- RRN3P2 653390 broad.mit.edu 37 16 29113498 29113498 + RNA DEL T T - rs11366120 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr16:29113498delT ENST00000564580.1 + 0 1360 AGGAGGTGGAttttttttttc 0.542 3 5 --- --- --- --- CCDC144NL-AS1 440416 broad.mit.edu 37 17 20870101 20870101 + RNA DEL C C - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr17:20870101delC ENST00000582583.1 + 0 799 RP11-344E13.3_ENST00000581958.1_RNA|RP11-344E13.3_ENST00000583481.1_RNA|RP11-344E13.3_ENST00000580056.1_RNA|RP11-344E13.3_ENST00000423473.2_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-381P6.1_ENST00000581673.1_RNA GGGGAAATTTCCATCTCTAAT 0.433 2 4 --- --- --- --- LOC339192 339192 broad.mit.edu 37 17 43276430 43276430 + RNA DEL T T - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr17:43276430delT ENST00000586376.1 - 0 604 cctcttctcctttttttttga 0.423 2 4 --- --- --- --- LOC100288866 100288866 broad.mit.edu 37 17 47593808 47593809 + RNA DEL AG AG - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr17:47593808_47593809delAG ENST00000514506.1 - 0 246 NR_103773.1 cccagagcccagagagtgagta 0.619 2 4 --- --- --- --- LINC01476 101927728 broad.mit.edu 37 17 57511677 57511678 + RNA INS - - G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr17:57511677_57511678insG ENST00000584262.1 - 0 583 ctcacagttcaggggggacata 0.455 2 4 --- --- --- --- ROCK1P1 727758 broad.mit.edu 37 18 112369 112370 + RNA INS - - G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr18:112369_112370insG ENST00000576266.1 + 0 3_4 AGCCAGGTGTTCCCCGCGAAAG 0.688 2 4 --- --- --- --- RP11-449D8.5 0 broad.mit.edu 37 18 22326225 22326226 + RNA DEL AC AC - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr18:22326225_22326226delAC ENST00000582650.1 + 0 235 Gcacacacagacacacacacac 0.485 2 4 --- --- --- --- RP11-449D8.5 0 broad.mit.edu 37 18 22495117 22495119 + RNA DEL AGG AGG - rs72351746 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr18:22495117_22495119delAGG ENST00000582650.1 + 0 235 ATTTAGAAACaggaggaggagga 0.493 5 1 --- --- --- --- KC6 641516 broad.mit.edu 37 18 39060522 39060523 + RNA INS - - G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr18:39060522_39060523insG ENST00000592302.1 - 0 1424_1425 NR_002838.1 CATACAAAACTGGGGGGCACAA 0.426 2 4 --- --- --- --- C3 718 broad.mit.edu 37 19 6697480 6697481 + Frame_Shift_Ins INS - - G rs137956083 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr19:6697480_6697481insG ENST00000245907.6 - 21 2762_2763 c.2670_2671insC c.(2668-2673)ccagtcfs p.V891fs NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 891 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) AACGAGGACTTGGGGGGGATGG 0.574 7 68 --- --- --- --- ZIM2-AS1 101929059 broad.mit.edu 37 19 57219135 57219136 + RNA INS - - T rs72530679 by1000genomes TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr19:57219135_57219136insT ENST00000594400.1 + 0 208 AC006115.3_ENST00000600093.1_RNA|AC006115.3_ENST00000597822.1_RNA CTACCCTGACATTATTGAAAAT 0.396 3 3 --- --- --- --- ZNF551 90233 broad.mit.edu 37 19 58204033 58204033 + Frame_Shift_Del DEL A A - rs76200340 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr19:58204033delA ENST00000597520.1 - 1 95 c.96delT c.(94-96)ttfs p.F32fs AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron actccgtctcaaaaaaaaaaa 0.512 3 4 --- --- --- --- KIZ-AS1 101929591 broad.mit.edu 37 20 21159850 21159850 + RNA DEL T T - rs149456856 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr20:21159850delT ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA ggtttttttgttttttttttt 0.313 5 2 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29589550 29589550 + RNA DEL T T - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr20:29589550delT ENST00000432067.1 - 0 152 tgacctaagatttgatctatc 0.323 2 4 --- --- --- --- RP11-445H22.4 0 broad.mit.edu 37 20 43326138 43326139 + RNA DEL CT CT - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr20:43326138_43326139delCT ENST00000427598.1 - 0 246 RP11-445H22.4_ENST00000445420.1_RNA gcagatattcctctctCTCTCT 0.396 3 3 --- --- --- --- LINC00494 284749 broad.mit.edu 37 20 46994261 46994262 + RNA INS - - C TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr20:46994261_46994262insC ENST00000416742.1 + 0 510 NR_026958.1 gcagcacacagccccccagaag 0.475 2 4 --- --- --- --- MIR646HG 284757 broad.mit.edu 37 20 58889846 58889846 + RNA DEL C C - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr20:58889846delC ENST00000432910.1 + 0 332 NR_046099.1 atcctcccatccatccatcca 0.547 3 3 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11072388 11072389 + RNA INS - - T rs139874484 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr21:11072388_11072389insT ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) tggttcacgccgtgattccagc 0.505 5 6 --- --- --- --- AP000282.2 0 broad.mit.edu 37 21 34350174 34350181 + RNA DEL GTGTGTGC GTGTGTGC - rs138491450 by1000genomes TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr21:34350174_34350181delGTGTGTGC ENST00000420356.1 - 0 201 AP000282.2_ENST00000454622.1_RNA gtgtgtgcatgtgtgtgcgtgtgtgtgt 0.495 3 4 --- --- --- --- LOC101928233 101928233 broad.mit.edu 37 21 44030057 44030060 + RNA DEL CGCA CGCA - rs67305845 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr21:44030057_44030060delCGCA ENST00000419628.1 - 0 206 gccatgtgaccgcacccaaccaca 0.529 2 4 --- --- --- --- CTA-833B7.2 0 broad.mit.edu 37 22 37250509 37250509 + RNA DEL A A - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chr22:37250509delA ENST00000330602.2 - 0 349 actggaaaacaaaaaaaaaac 0.323 2 4 --- --- --- --- LOC101928495 101928495 broad.mit.edu 37 X 125243955 125243956 + RNA INS - - GGCTCG rs71940569 TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chrX:125243955_125243956insGGCTCG ENST00000438994.1 + 0 102_103 caccctgcttccacacggtgcg 0.564 2 4 --- --- --- --- FIRRE 286467 broad.mit.edu 37 X 130838851 130838851 + RNA DEL T T - TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx bffe237d-31b0-4950-a7ab-4ac7047aa3c0 a403da0b-0d52-4223-89d6-043a49fe666f g.chrX:130838851delT ENST00000427391.1 - 0 2059 NR_026975.1 AACAACGTTCTTCCAGGGGAG 0.458 OREG0019926 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- ---