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 MAP3K9 4293 broad.mit.edu 37 14 71215544 71215544 + Splice_Site SNP A A T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr14:71215544A>T ENST00000554752.2 - 5 1326 c.e5+1 MAP3K9_ENST00000553414.1_Splice_Site|MAP3K9_ENST00000554146.1_Splice_Site|MAP3K9_ENST00000381250.4_Splice_Site|MAP3K9_ENST00000555993.2_Splice_Site P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) tgttttgtttaccttttcttt 0.438000 5 184 0 0 0.000602214 0 0 ROCK1 6093 broad.mit.edu 37 18 18586746 18586746 + Missense_Mutation SNP T T A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr18:18586746T>A ENST00000399799.1 - 15 2492 c.1552A>T c.(1552-1554)Aca>Tca p.T518S NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 518 Interaction with FHOD1. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity p.T518S(1) NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) TCCTTTAATGTAGAAACTAGA 0.308000 6 280 0 0 0.00116845 0 0 MRPL1 65008 broad.mit.edu 37 4 78784032 78784032 + Splice_Site SNP A A C TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr4:78784032A>C ENST00000315567.8 + 1 359 c.31_splice c.e1+1 p.R10_splice NM_020236.3 NP_064621.3 Q9BYD6 RM01_HUMAN mitochondrial ribosomal protein L1 10 RNA binding p.R10S(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1) 17 GCATGGGTAGAGGTAAGGCGA 0.537000 6 169 0 0 0.00198382 0 0 MAL 4118 broad.mit.edu 37 2 95713710 95713710 + Missense_Mutation SNP G G A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr2:95713710G>A ENST00000309988.4 + 2 209 c.100G>A c.(100-102)Ggg>Agg p.G34R MAL_ENST00000353004.3_Missense_Mutation_p.G34R|MAL_ENST00000349807.3_Intron|MAL_ENST00000354078.3_Intron NM_002371.3 NP_002362.1 P21145 MAL_HUMAN mal, T-cell differentiation protein 34 MARVEL. apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath p.G34R(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2) 10 STAD - Stomach adenocarcinoma(1183;0.18) GCAGATCTTCGGGGGCCTGGT 0.667000 26 60 0 0 0.001512 0 0 RCL1 10171 broad.mit.edu 37 9 4841318 4841318 + Missense_Mutation SNP A A G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr9:4841318A>G ENST00000381750.4 + 6 894 c.671A>G c.(670-672)tAt>tGt p.Y224C RCL1_ENST00000381730.1_Missense_Mutation_p.Y38C|RCL1_ENST00000448872.2_Missense_Mutation_p.Y38C|RCL1_ENST00000381728.1_Missense_Mutation_p.Y38C NM_005772.3 NP_005763.3 Q9Y2P8 RCL1_HUMAN RNA terminal phosphate cyclase-like 1 224 ribosome biogenesis|RNA processing nucleolus RNA-3'-phosphate cyclase activity breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0244) CCTGATATCTATATTTACACA 0.438000 4 287 0 0 0.00024832 0 0 TCF20 6942 broad.mit.edu 37 22 42610895 42610895 + Silent SNP A A G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr22:42610895A>G ENST00000359486.3 - 1 553 c.417T>C c.(415-417)ttT>ttC p.F139F TCF20_ENST00000335626.4_Silent_p.F139F NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding p.F139F(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GCTGTGCTTGAAACTGGCCCA 0.577000 56 162 0 0 0.00361006 0 0 ZNF778 197320 broad.mit.edu 37 16 89294346 89294346 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr16:89294346G>T ENST00000433976.2 + 6 1898 c.1566G>T c.(1564-1566)gaG>gaT p.E522D ZNF778_ENST00000306502.6_Missense_Mutation_p.E480D|RP11-46C24.6_ENST00000563182.1_RNA NM_001201407.1|NM_182531.3 NP_001188336.1|NP_872337.2 Q96MU6 ZN778_HUMAN zinc finger protein 778 522 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E522D(1) endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(80;0.0269) TACTGAATGAGCATGTGAAAA 0.458000 7 108 0.00198382 0.00529018 0.00198382 1 0 FCRL4 83417 broad.mit.edu 37 1 157558993 157558993 + Splice_Site SNP C C G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:157558993C>G ENST00000271532.1 - 3 443 c.e3+1 FCRL4_ENST00000448509.2_Splice_Site NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 integral to membrane|plasma membrane receptor activity p.?(1) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) TTCTTTCTCACCTGAAGAAAA 0.493000 18 146 0 0 0.000958276 0 0 FAM105B 90268 broad.mit.edu 37 5 14687628 14687628 + Splice_Site SNP A A T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr5:14687628A>T ENST00000284274.4 + 5 546 c.e5-1 NM_138348.4 NP_612357.4 Q96BN8 F105B_HUMAN family with sequence similarity 105, member B breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 14 Lung NSC(4;0.00696) TCGATGTTGTAGTTACCAGAA 0.348000 5 192 0 0 0.000602214 0 0 ARAP2 116984 broad.mit.edu 37 4 36130284 36130284 + Silent SNP T T G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr4:36130284T>G ENST00000303965.4 - 21 4000 c.3511A>C c.(3511-3513)Aga>Cga p.R1171R NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1171 Rho-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding p.R1171R(1) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TTAAAGCTTCTTGCATCCTTT 0.358000 11 175 0 0 0.00185496 0 0 GRM3 0 broad.mit.edu 37 7 86468360 86468360 + Silent SNP C C T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr7:86468360C>T ENST00000361669.2 + 4 2629 c.1530C>T c.(1528-1530)agC>agT p.S510S GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Silent_p.S102S|GRM3_ENST00000536043.1_Silent_p.S382S|GRM3_ENST00000439827.1_Intron NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 510 synaptic transmission integral to plasma membrane p.S510S(1) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CCCAGTGCAGCGACCCCTGTG 0.512000 35 134 0 0 0.0024448 0 0 UAP1L1 91373 broad.mit.edu 37 9 139975242 139975242 + Missense_Mutation SNP T T A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr9:139975242T>A ENST00000409858.3 + 7 1312 c.1280T>A c.(1279-1281)cTg>cAg p.L427Q UAP1L1_ENST00000360271.3_Missense_Mutation_p.L304Q NM_207309.2 NP_997192.2 Q3KQV9 UAP1L_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 427 nucleotidyltransferase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) CGCCAGGCCCTGCTCACCCAG 0.677000 4 92 0 0 0.000602214 0 0 AHSG 197 broad.mit.edu 37 3 186331026 186331026 + Silent SNP C C T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr3:186331026C>T ENST00000411641.2 + 1 315 c.96C>T c.(94-96)tgC>tgT p.C32C AHSG_ENST00000273784.5_Silent_p.C32C P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 32 Cystatin fetuin-A-type 1. acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding p.C32C(1) central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1) 22 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) AACCGAACTGCGATGATCCAG 0.512000 5 108 0 0 0.000602214 0 0 CCDC13 152206 broad.mit.edu 37 3 42784452 42784452 + Missense_Mutation SNP G G A rs143310118 by1000genomes TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr3:42784452G>A ENST00000310232.6 - 8 1006 c.923C>T c.(922-924)tCg>tTg p.S308L CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 308 p.S308L(1) endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 CTCCTGTGCCGACAGCTTCCT 0.572000 10 276 0 0 0.000978159 0 0 HIPK1 204851 broad.mit.edu 37 1 114510461 114510461 + Silent SNP T T C TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:114510461T>C ENST00000369558.1 + 12 2687 c.2455T>C c.(2455-2457)Ttg>Ctg p.L819L HIPK1_ENST00000369553.1_Silent_p.L425L|HIPK1_ENST00000369554.2_Silent_p.L774L|HIPK1_ENST00000369555.2_Silent_p.L774L|HIPK1_ENST00000369559.4_Silent_p.L819L|HIPK1_ENST00000369561.4_Silent_p.L785L|HIPK1_ENST00000426820.2_Silent_p.L819L|HIPK1_ENST00000340480.4_Silent_p.L445L|HIPK1_ENST00000406344.1_Silent_p.L425L Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 819 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.L819L(3) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCATGTGACATTGGCCACTGC 0.488000 7 210 0 0 0.00198382 0 0 LRFN3 79414 broad.mit.edu 37 19 36431059 36431059 + Silent SNP G G A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr19:36431059G>A ENST00000588831.1 + 3 1786 c.732G>A c.(730-732)ctG>ctA p.L244L LRFN3_ENST00000246529.3_Silent_p.L244L Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III domain containing 3 244 cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CCCTGGTGCTGGCCTTTGGCG 0.721000 3 42 0 0 0.000602214 0 0 ADRB2 154 broad.mit.edu 37 5 148207351 148207351 + Silent SNP T T G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr5:148207351T>G ENST00000305988.4 + 1 1196 c.957T>G c.(955-957)tcT>tcG p.S319S NM_000024.5 NP_000015.1 P07550 ADRB2_HUMAN adrenoceptor beta 2, surface 319 activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity p.S319S(1) endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) ATGTCAATTCTGGTTTCAATC 0.478000 15 142 0 0 0.00244969 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136313725 136313725 + Missense_Mutation SNP A A C TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr9:136313725A>C ENST00000371929.3 + 22 3181 c.2737A>C c.(2737-2739)Atg>Ctg p.M913L ADAMTS13_ENST00000356589.2_Missense_Mutation_p.M882L|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.M913L|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 913 TSP type-1 5. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding p.M913L(2) central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CGCAGGTCTGATGGAGCTGCG 0.632000 8 345 0 0 0.000442599 0 0 MYL6 4637 broad.mit.edu 37 12 56554423 56554423 + Missense_Mutation SNP T T A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr12:56554423T>A ENST00000550697.1 + 6 682 c.441T>A c.(439-441)caT>caA p.H147Q MYL6_ENST00000348108.4_Missense_Mutation_p.H148Q|MYL6_ENST00000536128.1_3'UTR|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000549566.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000548400.1_Missense_Mutation_p.H111Q|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000548293.1_Missense_Mutation_p.H147Q NM_021019.4 NP_066299.2 P60660 MYL6_HUMAN myosin, light chain 6, alkali, smooth muscle and non-muscle 147 EF-hand 3. axon guidance|muscle filament sliding|skeletal muscle tissue development cytosol|unconventional myosin complex actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle p.H147Q(1) large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(18;0.0979) TTGTGAGGCATATCCTGTCGG 0.547000 14 351 0 0 0.00327116 0 0 ABCA4 24 broad.mit.edu 37 1 94508397 94508397 + Missense_Mutation SNP A A G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:94508397A>G ENST00000370225.3 - 22 3334 c.3248T>C c.(3247-3249)gTg>gCg p.V1083A NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1083 ABC transporter 1. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances p.V1083A(1) NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GTCCAGAATCACCACCTTGGC 0.567000 9 144 0 0 0.000442599 0 0 ZNF276 92822 broad.mit.edu 37 16 89789105 89789105 + Silent SNP T T A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr16:89789105T>A ENST00000289816.5 + 2 459 c.147T>A c.(145-147)gcT>gcA p.A49A ZNF276_ENST00000568064.1_Silent_p.A49A|ZNF276_ENST00000443381.2_Silent_p.A124A|ZNF276_ENST00000446326.2_5'UTR NM_152287.3 NP_689500.2 Q8N554 ZN276_HUMAN zinc finger protein 276 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) TTGGTGTGGCTGTCCGCCAGG 0.637000 4 106 0 0 0.00024832 0 0 TRIM31 11074 broad.mit.edu 37 6 30080405 30080405 + Missense_Mutation SNP C C T rs143020056 byFrequency TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr6:30080405C>T ENST00000376734.3 - 2 303 c.178G>A c.(178-180)Gta>Ata p.V60I TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Missense_Mutation_p.V60I NM_007028.3 NP_008959.3 Q9BZY9 TRI31_HUMAN tripartite motif containing 31 60 mitochondrion ligase activity|zinc ion binding p.V60I(1) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2) 15 TTCTTCCTTACGGAAGTTTTG 0.473000 13 228 0 0 0.00136819 0 0 MFNG 4242 broad.mit.edu 37 22 37875495 37875495 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr22:37875495C>A ENST00000356998.3 - 4 672 c.449G>T c.(448-450)aGg>aTg p.R150M MFNG_ENST00000416983.3_Missense_Mutation_p.R136M NM_002405.3 NP_002396.2 O00587 MFNG_HUMAN MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 150 pattern specification process extracellular space|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity large_intestine(2)|lung(2)|skin(1) 5 Melanoma(58;0.0574) CAGCAGCGCCCTTGGGTTCAC 0.617000 4 80 1.23904e-05 3.53042e-05 0.000602214 1 0 GRIK4 2900 broad.mit.edu 37 11 120833172 120833172 + Missense_Mutation SNP G G A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr11:120833172G>A ENST00000527524.2 + 18 2335 c.2048G>A c.(2047-2049)cGc>cAc p.R683H GRIK4_ENST00000438375.2_Missense_Mutation_p.R683H Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 683 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.R683H(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) CAGAATTCCCGCTACCAGACC 0.483000 5 42 0 0 0.000602214 0 0 LARP1 23367 broad.mit.edu 37 5 154181820 154181820 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr5:154181820C>A ENST00000336314.4 + 11 1763 c.1739C>A c.(1738-1740)cCa>cAa p.P580Q NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 657 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CGCCGGCACCCAGGGGGGGAC 0.547000 6 196 0.00116845 0.00315632 0.00116845 1 0 LRRFIP2 9209 broad.mit.edu 37 3 37125219 37125219 + Silent SNP A A G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr3:37125219A>G ENST00000421307.1 - 20 1608 c.1186T>C c.(1186-1188)Ttg>Ctg p.L396L LRRFIP2_ENST00000336686.4_Silent_p.L396L|LRRFIP2_ENST00000440230.1_Silent_p.L164L|LRRFIP2_ENST00000421276.2_Silent_p.L164L|LRRFIP2_ENST00000354379.4_Silent_p.L140L|LRRFIP2_ENST00000396428.2_Silent_p.L212L NM_006309.2 NP_006300.1 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting protein 2 396 Wnt receptor signaling pathway LRR domain binding p.L396L(1)|p.0?(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 TGGTAGATCAAATTGTTCTTC 0.353000 58 207 0 0 0.00361006 0 0 KDR 3791 broad.mit.edu 37 4 55956221 55956221 + Nonsense_Mutation SNP G G A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr4:55956221G>A ENST00000263923.4 - 23 3389 c.3094C>T c.(3094-3096)Cga>Tga p.R1032* RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1032 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity p.R1032*(1) NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AGGATATTTCGTGCCGCCAGG 0.448000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 7 210 0 0 0.00307968 0 0 SLC2A6 11182 broad.mit.edu 37 9 136340607 136340607 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr9:136340607G>T ENST00000371899.4 - 5 766 c.689C>A c.(688-690)gCc>gAc p.A230D SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.A230D NM_017585.3 NP_060055.2 Q9UGQ3 GTR6_HUMAN solute carrier family 2 (facilitated glucose transporter), member 6 230 integral to membrane|plasma membrane D-glucose transmembrane transporter activity p.A230D(3) cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05) CGCCCGCAGGGCCTCTTCGTC 0.667000 4 38 1.76689e-08 5.10436e-08 0.000442599 1 0 DEPDC5 9681 broad.mit.edu 37 22 32229973 32229973 + Missense_Mutation SNP G G A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr22:32229973G>A ENST00000536766.1 + 22 2030 c.1859G>A c.(1858-1860)aGg>aAg p.R620K DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000382112.3_Intron|DEPDC5_ENST00000382111.2_Intron|DEPDC5_ENST00000266091.3_Intron|DEPDC5_ENST00000400249.2_Intron|DEPDC5_ENST00000400248.1_Intron|DEPDC5_ENST00000400246.1_Intron O75140 DEPD5_HUMAN DEP domain containing 5 0 intracellular signal transduction p.?(1) breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CCAAGTAAGAGGGGGCAGCTG 0.502000 23 452 0 0 0.00188189 0 0 SPATA6 54558 broad.mit.edu 37 1 48865161 48865161 + Silent SNP T T C TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:48865161T>C ENST00000371847.3 - 7 806 c.642A>G c.(640-642)aaA>aaG p.K214K SPATA6_ENST00000396199.3_Silent_p.K142K|SPATA6_ENST00000371843.3_Silent_p.K214K|SPATA6_ENST00000463938.1_5'UTR NM_019073.2 NP_061946.1 Q9NWH7 SPAT6_HUMAN spermatogenesis associated 6 214 cell differentiation|multicellular organismal development|spermatogenesis extracellular region p.K214K(1) breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 21 GAGAGTGTGATTTTGAAGAAA 0.413000 9 505 0 0 0.00448238 0 0 KRT14 3861 broad.mit.edu 37 17 39741238 39741238 + Missense_Mutation SNP G G C TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr17:39741238G>C ENST00000167586.6 - 2 683 c.597C>G c.(595-597)gaC>gaG p.D199E NM_000526.4 NP_000517.2 P02533 K1C14_HUMAN keratin 14 199 Coil 1B.|Rod. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton p.D199E(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) TGGTGCGGAAGTCATCCGCGG 0.502000 4 96 0 0 0.000602214 0 0 IFT80 57560 broad.mit.edu 37 3 160037613 160037613 + Missense_Mutation SNP C C T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr3:160037613C>T ENST00000326448.7 - 9 1324 c.892G>A c.(892-894)Gtg>Atg p.V298M IFT80_ENST00000496589.1_Missense_Mutation_p.V161M|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.V469M|IFT80_ENST00000483465.1_Missense_Mutation_p.V161M NM_020800.2 NP_065851.1 Q9P2H3 IFT80_HUMAN intraflagellar transport 80 homolog (Chlamydomonas) 298 cilium axoneme|microtubule basal body p.V298M(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TGTTCCACCACATGTGCAAAA 0.398000 8 219 0 0 0.00307968 0 0 WDR81 124997 broad.mit.edu 37 17 1633695 1633695 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr17:1633695G>T ENST00000409644.1 + 2 3689 c.3689G>T c.(3688-3690)cGc>cTc p.R1230L WDR81_ENST00000437219.2_Missense_Mutation_p.R27L|WDR81_ENST00000309182.5_Missense_Mutation_p.R179L|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000419248.1_Missense_Mutation_p.R3L|RP11-961A15.1_ENST00000576540.1_RNA NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 3 p.R179L(2)|p.R27L(2)|p.R1230L(1) cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AAGATGGTCCGCTGGCTGTCT 0.657000 3 39 6.4e-05 0.000177493 6.4e-05 1 0 PLA2G2A 5320 broad.mit.edu 37 1 20304968 20304968 + Missense_Mutation SNP C C G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:20304968C>G ENST00000375111.3 - 4 361 c.90G>C c.(88-90)aaG>aaC p.K30N PLA2G2A_ENST00000400520.3_Missense_Mutation_p.K30N|PLA2G2A_ENST00000496748.1_5'UTR NM_000300.3|NM_001161727.1 NP_000291.1|NP_001155199.1 P14555 PA2GA_HUMAN phospholipase A2, group IIA (platelets, synovial fluid) 30 defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation endoplasmic reticulum|extracellular space|membrane calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding p.K30N(1) central_nervous_system(1)|lung(6)|prostate(1)|stomach(1) 9 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CTGTCGTCAACTTGATCATTC 0.557000 12 61 0 0 0.00136819 0 0 KIF21B 23046 broad.mit.edu 37 1 200978472 200978472 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:200978472C>A ENST00000332129.2 - 2 502 c.186G>T c.(184-186)caG>caT p.Q62H KIF21B_ENST00000422435.2_Missense_Mutation_p.Q62H|KIF21B_ENST00000461742.2_Missense_Mutation_p.Q62H|KIF21B_ENST00000360529.5_Missense_Mutation_p.Q62H NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 62 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.Q62H(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TGGAATAGATCTGTTCTTGCC 0.572000 11 99 3.86212e-05 0.000108557 0.000673444 1 0 SLC22A7 10864 broad.mit.edu 37 6 43270068 43270068 + Missense_Mutation SNP C C T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr6:43270068C>T ENST00000372585.5 + 8 1287 c.1192C>T c.(1192-1194)Cgc>Tgc p.R398C SLC22A7_ENST00000372574.3_Missense_Mutation_p.R396C|SLC22A7_ENST00000372589.3_Missense_Mutation_p.R396C NM_153320.2 NP_696961.2 Q9Y694 S22A7_HUMAN solute carrier family 22 (organic anion transporter), member 7 398 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity p.R398C(1) NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) CTTGTCGGTGCGCTACGCAGG 0.637000 14 35 0 0 0.00316338 0 0 MYL6 4637 broad.mit.edu 37 12 56554425 56554425 + Missense_Mutation SNP T T G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr12:56554425T>G ENST00000550697.1 + 6 684 c.443T>G c.(442-444)aTc>aGc p.I148S MYL6_ENST00000348108.4_Missense_Mutation_p.I149S|MYL6_ENST00000536128.1_3'UTR|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000549566.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000548400.1_Missense_Mutation_p.I112S|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000548293.1_Missense_Mutation_p.I148S NM_021019.4 NP_066299.2 P60660 MYL6_HUMAN myosin, light chain 6, alkali, smooth muscle and non-muscle 148 EF-hand 3. axon guidance|muscle filament sliding|skeletal muscle tissue development cytosol|unconventional myosin complex actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle p.I148S(1) large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(18;0.0979) GTGAGGCATATCCTGTCGGGG 0.547000 14 342 0 0 0.00283554 0 0 SPG20 23111 broad.mit.edu 37 13 36886567 36886567 + Missense_Mutation SNP G G A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr13:36886567G>A ENST00000451493.1 - 7 1748 c.1531C>T c.(1531-1533)Cca>Tca p.P511S SPG20_ENST00000438666.2_Missense_Mutation_p.P511S|SPG20_ENST00000494062.2_Missense_Mutation_p.P511S|SPG20_ENST00000355182.4_Missense_Mutation_p.P511S NM_001142295.1 NP_001135767.1 Q8N0X7 SPG20_HUMAN spastic paraplegia 20 (Troyer syndrome) 511 cell death cytoplasm ubiquitin protein ligase binding p.P511S(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 27 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) TTGACATGTGGAGCTAGTTCT 0.368000 42 283 0 0 0.00195071 0 0 HAVCR1 26762 broad.mit.edu 37 5 156479438 156479438 + Missense_Mutation SNP G G A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr5:156479438G>A ENST00000339252.3 - 3 1139 c.607C>T c.(607-609)Cca>Tca p.P203S HAVCR1_ENST00000523175.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000522693.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000425854.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000544197.1_Missense_Mutation_p.P203S NM_012206.2 NP_036338.2 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 198 Thr-rich. interspecies interaction between organisms integral to membrane receptor activity p.P203S(1) endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTTGTCACTGGAACACTTGTT 0.468000 67 448 0 0 0.00361006 0 0 XIRP2 129446 broad.mit.edu 37 2 168099282 168099282 + Silent SNP T T G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr2:168099282T>G ENST00000409195.1 + 9 1469 c.1380T>G c.(1378-1380)ctT>ctG p.L460L XIRP2_ENST00000409273.1_Silent_p.L238L|XIRP2_ENST00000295237.9_Silent_p.L460L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 285 actin cytoskeleton organization cell junction actin binding p.L460L(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CTGACGTACTTCAAACTTCAG 0.448000 24 188 0 0 0.00395357 0 0 MT-ND4 4538 broad.mit.edu 37 MT 10869 10869 + Missense_Mutation SNP T T C TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chrM:10869T>C ENST00000361381.2 + 1 110 c.110T>C c.(109-111)aTc>aCc p.37_37insT mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 TATTAGCATCATCCCCCTACT 0.398000 2 3 0 0 6.4e-05 0 0 SLC6A15 55117 broad.mit.edu 37 12 85270374 85270374 + Missense_Mutation SNP T T A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr12:85270374T>A ENST00000266682.5 - 6 1310 c.769A>T c.(769-771)Agt>Tgt p.S257C SLC6A15_ENST00000552192.1_Missense_Mutation_p.S150C|SLC6A15_ENST00000551388.1_5'UTR NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 257 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.S257C(1) kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 AACAGAGAACTAAAATATATG 0.303000 5 141 0 0 0.000602214 0 0 GALNT8 26290 broad.mit.edu 37 12 4874640 4874640 + Silent SNP G G A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr12:4874640G>A ENST00000252318.2 + 10 2026 c.1689G>A c.(1687-1689)gcG>gcA p.A563A NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 563 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.A563A(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 CTGGCAAGGCGGAGAAGCCCA 0.463000 5 98 0 0 0.000602214 0 0 DPY19L2 283417 broad.mit.edu 37 12 63976243 63976243 + Silent SNP T T C TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr12:63976243T>C ENST00000324472.4 - 18 1851 c.1668A>G c.(1666-1668)ctA>ctG p.L556L DPY19L2_ENST00000413230.2_Silent_p.L3L NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 556 multicellular organismal development|spermatid development integral to membrane p.L556L(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) AAAACATCTTTAGCCTCATAA 0.343000 23 82 0 0 0.00465635 0 0 TP53TG5 27296 broad.mit.edu 37 20 44004137 44004137 + Missense_Mutation SNP C C T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr20:44004137C>T ENST00000372726.3 - 4 466 c.310G>A c.(310-312)Ggg>Agg p.G104R SYS1_ENST00000426004.1_3'UTR|TP53TG5_ENST00000537995.1_Missense_Mutation_p.G88R|SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000494455.1_5'UTR|SYS1-DBNDD2_ENST00000475242.1_Intron NM_014477.2 NP_055292.1 Q9Y2B4 T53G5_HUMAN TP53 target 5 104 intracellular signal transduction|negative regulation of cell growth cytoplasm|nucleus p.G104R(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1) 12 TCGGAGCACCCGATCTCCTGG 0.502000 43 326 0 0 0.00195071 0 0 LRGUK 136332 broad.mit.edu 37 7 133859312 133859312 + Missense_Mutation SNP C C T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr7:133859312C>T ENST00000285928.2 + 8 1013 c.944C>T c.(943-945)gCt>gTt p.A315V NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 315 ATP binding|kinase activity p.A315V(2) breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 GAACAGATTGCTGAGCTGAGA 0.313000 6 185 0 0 0.00198382 0 0 PCDH17 27253 broad.mit.edu 37 13 58208844 58208844 + Missense_Mutation SNP G G A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr13:58208844G>A ENST00000377918.3 + 1 2190 c.2164G>A c.(2164-2166)Gcc>Acc p.A722T NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 722 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CCTCCTAGCGGCCATGATCAC 0.617000 4 84 0 0 0.00024832 0 0 IPO9 55705 broad.mit.edu 37 1 201836000 201836000 + Missense_Mutation SNP G G A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:201836000G>A ENST00000361565.4 + 15 1837 c.1768G>A c.(1768-1770)Gtt>Att p.V590I NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 590 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 CCTGTGCATCGTTTGTACAGT 0.517000 6 290 0 0 0.00198382 0 0 DOCK10 55619 broad.mit.edu 37 2 225670001 225670001 + Nonsense_Mutation SNP G G A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr2:225670001G>A ENST00000409592.3 - 36 4068 c.3955C>T c.(3955-3957)Cga>Tga p.R1319* DOCK10_ENST00000258390.7_Nonsense_Mutation_p.R1325* Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1325 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TTGTCAAATCGAAGAGTTGAG 0.398000 7 337 0 0 0.00307968 0 0 FBXL7 23194 broad.mit.edu 37 5 15928553 15928553 + Missense_Mutation SNP G G A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr5:15928553G>A ENST00000504595.1 + 3 1163 c.682G>A c.(682-684)Gag>Aag p.E228K FBXL7_ENST00000510662.1_Missense_Mutation_p.E181K|FBXL7_ENST00000329673.7_Missense_Mutation_p.E216K NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 228 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 TATCTCCAACGAGGCCGTCTT 0.582000 5 173 0 0 0.000602214 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 4 6 0 0 0.000602214 0 0 TRIP12 9320 broad.mit.edu 37 2 230657838 230657838 + Missense_Mutation SNP T T C TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr2:230657838T>C ENST00000283943.5 - 26 3945 c.3767A>G c.(3766-3768)cAg>cGg p.Q1256R TRIP12_ENST00000389045.3_Missense_Mutation_p.Q986R|TRIP12_ENST00000389044.4_Missense_Mutation_p.Q1304R NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1256 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity p.Q1256R(1) 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) TTTTAAAGCCTGTGATCCTCT 0.328000 16 119 0 0 0.00316338 0 0 RRN3P2 0 broad.mit.edu 37 16 29110438 29110438 + RNA SNP T T C TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr16:29110438T>C ENST00000564580.1 + 0 1111 p.L368P(6) TTGCAGTATCTTCAGAGTCTG 0.328000 3 103 0 0 6.4e-05 0 0 ALDH3A2 224 broad.mit.edu 37 17 19559759 19559759 + Silent SNP G G A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr17:19559759G>A ENST00000176643.6 + 4 998 c.552G>A c.(550-552)acG>acA p.T184T ALDH3A2_ENST00000581518.1_Silent_p.T184T|ALDH3A2_ENST00000579855.1_Silent_p.T184T|ALDH3A2_ENST00000339618.4_Silent_p.T184T|ALDH3A2_ENST00000395575.2_Silent_p.T184T P51648 AL3A2_HUMAN aldehyde dehydrogenase 3 family, member A2 184 T -> M (in SLS; severe loss of activity).|T -> R (in SLS; severe loss of activity). cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development endoplasmic reticulum membrane|integral to membrane 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity p.T184T(1) endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1) 13 all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245) NADH(DB00157) TTTTCTATACGGGAAACACTG 0.438000 32 167 0 0 0.0024448 0 0 MX1 4599 broad.mit.edu 37 21 42807818 42807818 + Missense_Mutation SNP G G A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr21:42807818G>A ENST00000398600.2 + 8 1185 c.160G>A c.(160-162)Gac>Aac p.D54N MX1_ENST00000398598.3_Missense_Mutation_p.D54N|MX1_ENST00000288383.6_Missense_Mutation_p.D54N|MX1_ENST00000455164.2_Missense_Mutation_p.D54N NM_001144925.1 NP_001138397.1 P20591 MX1_HUMAN myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) 54 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding p.D54N(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) CCCCTGCATCGACCTCATTGA 0.582000 7 150 0 0 0.00448238 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209953928 209953928 + Nonsense_Mutation SNP C C T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:209953928C>T ENST00000367024.1 + 15 1942 c.1426C>T c.(1426-1428)Cag>Tag p.Q476* TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000367025.3_Nonsense_Mutation_p.Q476*|TRAF3IP3_ENST00000367026.3_Nonsense_Mutation_p.Q456*|TRAF3IP3_ENST00000010338.4_Nonsense_Mutation_p.Q456* Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 476 integral to membrane protein binding breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) GAAGACTTTGCAGCTCCAGGC 0.527000 4 125 0 0 0.00024832 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171821588 171821588 + Silent SNP T T G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr5:171821588T>G ENST00000311601.5 - 4 458 c.288A>C c.(286-288)atA>atC p.I96I SH3PXD2B_ENST00000519643.1_Silent_p.I96I NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 96 PX. adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding p.I96I(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CATCAATTGGTATCAGGCGTT 0.468000 9 67 0 0 0.000442599 0 0 MORC1 27136 broad.mit.edu 37 3 108724127 108724127 + Silent SNP G G A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr3:108724127G>A ENST00000232603.5 - 19 1885 c.1803C>T c.(1801-1803)ggC>ggT p.G601G MORC1_ENST00000483760.1_Silent_p.G580G NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 601 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding p.G601G(2) breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TCAAGTCATCGCCCAAAAGCC 0.353000 7 153 0 0 0.00198382 0 0 BCOR 54880 broad.mit.edu 37 X 39914706 39914706 + Silent SNP A A G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chrX:39914706A>G ENST00000342274.4 - 12 4916 c.4554T>C c.(4552-4554)taT>taC p.Y1518Y BCOR_ENST00000378463.1_Silent_p.Y395Y|BCOR_ENST00000378444.4_Silent_p.Y1552Y|BCOR_ENST00000378455.4_Silent_p.Y1500Y|BCOR_ENST00000397354.3_Silent_p.Y1518Y NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 1552 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding p.Y1518Y(2) breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 GGTCAGCACCATAAGAGAGAA 0.453000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 8 83 0 0 0.000673444 0 0 CHP1 11261 broad.mit.edu 37 15 41523608 41523608 + Missense_Mutation SNP C C T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr15:41523608C>T ENST00000334660.5 + 1 268 c.28C>T c.(28-30)Cgg>Tgg p.R10W CHP1_ENST00000558351.1_Intron|CHP1_ENST00000560397.1_Missense_Mutation_p.R10W NM_007236.4 NP_009167.1 Q99653 CHP1_HUMAN calcineurin-like EF-hand protein 1 10 potassium ion transport|small GTPase mediated signal transduction potassium channel regulator activity p.R10W(1) CACGTTACTGCGGGACGAAGA 0.677000 3 7 0 0 0.00024832 0 0 UBC 7316 broad.mit.edu 37 12 125397269 125397269 + Missense_Mutation SNP G G A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr12:125397269G>A ENST00000536769.1 - 1 2625 c.1049C>T c.(1048-1050)gCc>gTc p.A350V UBC_ENST00000339647.5_Missense_Mutation_p.A350V|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Missense_Mutation_p.A274V P0CG48 UBC_HUMAN ubiquitin C 350 Ubiquitin-like 5. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CTGTTTTCCGGCAAAGATCAA 0.522000 7 475 0 0 0.00198382 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103442220 103442220 + Splice_Site SNP C C G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr14:103442220C>G ENST00000361246.2 - 10 1675 c.1387_splice c.e10+1 p.E463_splice NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 463 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity p.E463Q(2) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CTGCCCTCACCTTGCAGCTTC 0.662000 13 154 0 0 0.00400662 0 0 ZNF516 9658 broad.mit.edu 37 18 74091047 74091047 + Missense_Mutation SNP T T A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr18:74091047T>A ENST00000443185.2 - 4 3340 c.3023A>T c.(3022-3024)cAg>cTg p.Q1008L ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 1008 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q1008L(1) central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CCTCAGCTCCTGGGCTGCCTT 0.706000 25 29 0 0 0.00465635 0 0 MIPEP 4285 broad.mit.edu 37 13 24455845 24455845 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr13:24455845C>A ENST00000382172.3 - 3 543 c.445G>T c.(445-447)Gta>Tta p.V149L MIPEP_ENST00000469167.1_5'UTR NM_005932.3 NP_005923.2 Q99797 MIPEP_HUMAN mitochondrial intermediate peptidase 149 protein processing involved in protein targeting to mitochondrion|proteolysis mitochondrial matrix metal ion binding|metalloendopeptidase activity p.V149L(1) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1) 27 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) TACTTCTCTACCATGGTGCCA 0.502000 11 115 0.000978159 0.00267707 0.000978159 1 0 OXSM 54995 broad.mit.edu 37 3 25833004 25833004 + Silent SNP T T C TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr3:25833004T>C ENST00000280701.3 + 2 592 c.493T>C c.(493-495)Ttg>Ctg p.L165L OXSM_ENST00000420173.2_Silent_p.L165L|OXSM_ENST00000449808.1_Intron NM_017897.2 NP_060367.1 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial 165 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity p.L165L(1) breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 TGAAACTGCTTTGAATTTTCA 0.423000 29 268 0 0 0.00178596 0 0 TRIM9 114088 broad.mit.edu 37 14 51446111 51446111 + Silent SNP G G A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr14:51446111G>A ENST00000298355.3 - 9 3185 c.2064C>T c.(2062-2064)aaC>aaT p.N688N TRIM9_ENST00000338969.5_Silent_p.N769N NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 688 B30.2/SPRY. proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding p.N688N(2)|p.N769N(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) TTACCTGCACGTTCCTGTTCA 0.512000 65 203 0 0 0.00361006 0 0 CASZ1 54897 broad.mit.edu 37 1 10713982 10713982 + Frame_Shift_Del DEL C C - TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:10713982delC ENST00000377022.3 - 11 2449 c.2132delG c.(2131-2133)gcfs p.G711fs RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Frame_Shift_Del_p.G711fs NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 711 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GTCCTTGGCGCCCAGCAGCGA 0.662 9 124 --- --- --- --- TCHH 7062 broad.mit.edu 37 1 152082957 152082959 + In_Frame_Del DEL CTC CTC - rs143222885 by1000genomes TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:152082957_152082959delCTC ENST00000368804.1 - 2 2733_2735 c.2734_2736delGAG c.(2734-2736)del p.E912del NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 912 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTCTGTAGCTCCTCCTCCTCC 0.586 7 513 --- --- --- --- GCC2 9648 broad.mit.edu 37 2 109087883 109087884 + Frame_Shift_Ins INS - - A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr2:109087883_109087884insA ENST00000309863.6 + 6 2812_2813 c.2098_2099insA c.(2098-2100)aaafs p.K700fs NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 700 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 ACTCAGTTCAGAAAAAAAACAG 0.307 7 564 --- --- --- --- CCNYL1 151195 broad.mit.edu 37 2 208618360 208618362 + In_Frame_Del DEL AGA AGA - TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr2:208618360_208618362delAGA ENST00000295414.3 + 10 1229_1231 c.1018_1020delAGA c.(1018-1020)del p.R341del CCNYL1_ENST00000339882.5_In_Frame_Del_p.R290del|CCNYL1_ENST00000392209.3_In_Frame_Del_p.R271del|CCNYL1_ENST00000468768.1_3'UTR Q8N7R7 CCYL1_HUMAN cyclin Y-like 1 341 regulation of cyclin-dependent protein kinase activity protein kinase binding endometrium(1)|large_intestine(1)|lung(3) 5 LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14) AGCCGCTATGAGAAGGTCTTTCA 0.404 72 356 --- --- --- --- UBA6 55236 broad.mit.edu 37 4 68529609 68529610 + Frame_Shift_Ins INS - - T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr4:68529609_68529610insT ENST00000322244.4 - 11 1012_1013 c.953_954insA c.(952-954)accfs p.T318fs UBA6_ENST00000420827.2_Frame_Shift_Ins_p.T318fs NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 318 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 TTACCTCAGGGTTGCTAAAATC 0.386 8 279 --- --- --- --- SURF4 6836 broad.mit.edu 37 9 136231748 136231748 + Frame_Shift_Del DEL T T - TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr9:136231748delT ENST00000371989.3 - 5 640 c.511delA c.(511-513)ccfs p.T171fs SURF4_ENST00000485435.2_Intron|SURF4_ENST00000545297.1_Intron|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000371991.3_Frame_Shift_Del_p.T171fs NM_033161.2 NP_149351.1 O15260 SURF4_HUMAN surfeit 4 171 endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane protein binding kidney(1)|large_intestine(2)|lung(5) 8 OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05) TGAAGGAGGGTCATGAACATC 0.562 12 69 --- --- --- --- FNBP4 23360 broad.mit.edu 37 11 47788664 47788669 + In_Frame_Del DEL GGTGGT GGTGGT - rs59413596 TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr11:47788664_47788669delGGTGGT ENST00000263773.5 - 1 184_189 c.172_177delACCACC c.(172-177)del p.TT58del FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 58 p.T58_T59delTT(3) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 CAGTCACCGCGGTGGTGGTGGTCGTC 0.748 3 3 --- --- --- --- LINC00871 0 broad.mit.edu 37 14 46721941 46721944 + RNA DEL GTGT GTGT - rs71920937 TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr14:46721941_46721944delGTGT ENST00000556886.1 + 0 232 NR_102701.1 TCTGGAAtgcgtgtgtgtgtgtgt 0.387 2 4 --- --- --- --- SLITRK4 139065 broad.mit.edu 37 X 142717743 142717743 + Frame_Shift_Del DEL T T - TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chrX:142717743delT ENST00000381779.4 - 2 1407 c.1182delA c.(1180-1182)gtfs p.V394fs SLITRK4_ENST00000338017.4_Frame_Shift_Del_p.V394fs|SLITRK4_ENST00000356928.1_Frame_Shift_Del_p.V394fs NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 394 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TGAAGTCTGATACGTCCACAT 0.393 110 164 --- --- --- ---