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 SMARCA1 6594 broad.mit.edu 37 X 128624100 128624100 + Missense_Mutation SNP C C T TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chrX:128624100C>T ENST00000371122.4 - 15 2014 c.1885G>A c.(1885-1887)Gaa>Aaa p.E629K SMARCA1_ENST00000371123.1_Missense_Mutation_p.E617K|SMARCA1_ENST00000371121.3_Missense_Mutation_p.E617K NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 629 Helicase C-terminal. ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 ATCCTCTCTTCAACAGTGTTG 0.353000 23 6 0 0 1 0 0 PDGFRB 5159 broad.mit.edu 37 5 149497216 149497216 + Silent SNP G G A TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr5:149497216G>A ENST00000261799.4 - 22 3571 c.3102C>T c.(3100-3102)gaC>gaT p.D1034D NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 1034 aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GTGGGCCCTCGTCAGCAACCT 0.602000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 20 21 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 5 199 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98737795 98737795 + Missense_Mutation SNP T T A TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr2:98737795T>A ENST00000477737.1 + 5 780 c.576T>A c.(574-576)aaT>aaA p.N192K VWA3B_ENST00000451075.2_Missense_Mutation_p.N42K|VWA3B_ENST00000435344.1_Missense_Mutation_p.N192K NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 192 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GGCAGGAAAATGCTACTCCTG 0.542000 6 30 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152192638 152192638 + Silent SNP G G A TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr1:152192638G>A ENST00000368801.2 - 3 1542 c.1467C>T c.(1465-1467)tcC>tcT p.S489S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 489 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCCGTGGCCGGAGGAGTGAC 0.542000 5 251 0 0 1 0 0 FERMT2 10979 broad.mit.edu 37 14 53331155 53331155 + Silent SNP C C T TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr14:53331155C>T ENST00000395631.2 - 12 1782 c.1566G>A c.(1564-1566)gtG>gtA p.V522V FERMT2_ENST00000553373.1_Silent_p.V522V|FERMT2_ENST00000399304.3_Silent_p.V522V|FERMT2_ENST00000341590.3_Silent_p.V522V|FERMT2_ENST00000343279.4_Silent_p.V522V Q96AC1 FERM2_HUMAN fermitin family member 2 522 FERM. actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytosol|focal adhesion|stress fiber binding ERO1L/FERMT2(2) NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Breast(41;0.0342) AGCGGGGAGACACCAAACATT 0.348000 48 52 0 0 1 0 0 HCG17 0 broad.mit.edu 37 6 30227442 30227442 + RNA SNP T T G TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr6:30227442T>G ENST00000453558.1 - 0 126 HLA-L_ENST00000463348.1_RNA CTGCTGCTCTTGGGGGCCCTG 0.706000 6 22 0 0 1 0 0 MED23 9439 broad.mit.edu 37 6 131915293 131915293 + Missense_Mutation SNP G G A TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr6:131915293G>A ENST00000403834.3 - 23 3369 c.3196C>T c.(3196-3198)Cct>Tct p.P1066S MED23_ENST00000368060.3_Missense_Mutation_p.P1060S|MED23_ENST00000545957.1_Missense_Mutation_p.P701S|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000354577.4_Missense_Mutation_p.P1066S|MED23_ENST00000368058.1_Missense_Mutation_p.P1066S|MED23_ENST00000368068.3_Missense_Mutation_p.P1060S Q9ULK4 MED23_HUMAN mediator complex subunit 23 1060 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) GGAACCCAAGGATTTTCCTCT 0.428000 27 33 0 0 1 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79741159 79741159 + Missense_Mutation SNP A A G TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr5:79741159A>G ENST00000338008.5 + 6 2839 c.2659A>G c.(2659-2661)Aaa>Gaa p.K887E ZFYVE16_ENST00000510158.1_Missense_Mutation_p.K887E|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.K887E NM_014733.3 NP_055548.3 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 887 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) AGATACAACAAAATTATCATC 0.348000 21 33 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459777 107459777 + Silent SNP C C T TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr2:107459777C>T ENST00000409382.3 - 2 1267 c.657G>A c.(655-657)ccG>ccA p.P219P ST6GAL2_ENST00000361686.4_Silent_p.P219P|ST6GAL2_ENST00000409087.3_Silent_p.P219P NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 219 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 TCTGCAGGCGCGGGTTCAGCA 0.642000 11 7 0 0 1 0 0 CLDN7 1366 broad.mit.edu 37 17 7163815 7163815 + Missense_Mutation SNP A A C TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr17:7163815A>C ENST00000360325.7 - 4 948 c.514T>G c.(514-516)Tct>Gct p.S172A CLDN7_ENST00000538261.3_Silent_p.G143G|RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000397317.4_Missense_Mutation_p.S172A NM_001307.5 NP_001298.3 O95471 CLD7_HUMAN claudin 7 172 calcium-independent cell-cell adhesion integral to membrane|lateral plasma membrane|tight junction identical protein binding|structural molecule activity p.S172A(1) kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 6 ACTAGGGCAGACCCTGCCCAG 0.572000 4 7 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430947 37430947 + Nonsense_Mutation SNP G G A TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr10:37430947G>A ENST00000374660.1 + 7 1053 c.954G>A c.(952-954)tgG>tgA p.W318* ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.W318*|ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.W318* Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 374 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AATTTACGTGGCCAGCAAAAG 0.423000 21 80 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157491070 157491070 + Missense_Mutation SNP C C T TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr1:157491070C>T ENST00000361835.3 - 11 2409 c.2252G>A c.(2251-2253)cGc>cAc p.R751H FCRL5_ENST00000356953.4_Missense_Mutation_p.R751H|FCRL5_ENST00000461387.1_5'UTR NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 751 integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GAGGACCGGGCGAGACACCGG 0.507000 8 24 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31599394 31599394 + Missense_Mutation SNP G G T TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr6:31599394G>T ENST00000376033.2 + 16 3178 c.2944G>T c.(2944-2946)Gac>Tac p.D982Y PRRC2A_ENST00000376007.4_Missense_Mutation_p.D982Y NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 982 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CCCAAAGCCAGACCCACTCAA 0.567000 10 10 7.48243e-07 7.6487e-07 1 1 0 ASGR1 432 broad.mit.edu 37 17 7080598 7080598 + Missense_Mutation SNP G G A TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr17:7080598G>A ENST00000269299.3 - 3 517 c.118C>T c.(118-120)Cgc>Tgc p.R40C ASGR1_ENST00000574388.1_Intron|ASGR1_ENST00000572879.1_5'UTR|ASGR1_ENST00000380920.4_5'UTR NM_001197216.2|NM_001671.4 NP_001184145.1|NP_001662.1 P07306 ASGR1_HUMAN asialoglycoprotein receptor 1 40 receptor-mediated endocytosis integral to plasma membrane asialoglycoprotein receptor activity|metal ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1) 10 AGGAGGAGGCGAGGTCCGGAG 0.682000 OREG0024128 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 40 0 0 1 0 0 TMEM175 84286 broad.mit.edu 37 4 952220 952220 + Missense_Mutation SNP A A C TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr4:952220A>C ENST00000264771.4 + 11 1636 c.1451A>C c.(1450-1452)cAc>cCc p.H484P TMEM175_ENST00000508204.1_Missense_Mutation_p.H402P|TMEM175_ENST00000515740.1_Missense_Mutation_p.H368P NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 484 integral to membrane p.H484P(1) NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CGGCCCGAACACCCCCCGCCA 0.736000 9 11 0 0 1 0 0 MIER1 57708 broad.mit.edu 37 1 67424570 67424570 + Missense_Mutation SNP G G A TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr1:67424570G>A ENST00000357692.2 + 7 687 c.430G>A c.(430-432)Gaa>Aaa p.E144K MIER1_ENST00000371018.3_Missense_Mutation_p.E144K|MIER1_ENST00000371014.1_Missense_Mutation_p.E180K|MIER1_ENST00000355356.3_Missense_Mutation_p.E127K|MIER1_ENST00000401042.3_Missense_Mutation_p.E127K|MIER1_ENST00000401041.1_Missense_Mutation_p.E180K|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000371016.1_Missense_Mutation_p.E144K|MIER1_ENST00000355977.6_Missense_Mutation_p.E64K NM_001146110.1 NP_001139582.1 Q8N108 MIER1_HUMAN mesoderm induction early response 1, transcriptional regulator 151 Glu-rich. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3) 15 TCAGGAGGATGAAACTCAGTC 0.368000 22 29 0 0 1 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44806203 44806203 + Missense_Mutation SNP G G A TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr7:44806203G>A ENST00000309315.4 + 18 2719 c.2596G>A c.(2596-2598)Ggc>Agc p.G866S ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.G866S|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.G834S|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.G808S|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.G840S NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 866 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TCCTGCCACAGGCGTGATGGG 0.672000 34 32 0 0 1 0 0 CLDN10 9071 broad.mit.edu 37 13 96212468 96212468 + Missense_Mutation SNP G G T TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr13:96212468G>T ENST00000376873.3 + 2 527 c.297G>T c.(295-297)atG>atT p.M99I CLDN10_ENST00000376855.1_Missense_Mutation_p.M19I|CLDN10_ENST00000299339.2_Missense_Mutation_p.M101I NM_001160100.1|NM_182848.3 NP_001153572.1|NP_878268.1 P78369 CLD10_HUMAN claudin 10 101 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) TCTTTGGAATGAAGTGTACCA 0.428000 36 38 9.04072e-19 1.01432e-18 1 1 0 MPHOSPH10 10199 broad.mit.edu 37 2 71376384 71376384 + Missense_Mutation SNP C C T TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr2:71376384C>T ENST00000244230.2 + 10 2049 c.1697C>T c.(1696-1698)gCt>gTt p.A566V NM_005791.2 NP_005782.1 O00566 MPP10_HUMAN M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) 566 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1) 26 ATAAAAACAGCTGCTGAAAAA 0.333000 6 8 0 0 1 0 0 MAP4K3 8491 broad.mit.edu 37 2 39517448 39517448 + Silent SNP A A G TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr2:39517448A>G ENST00000263881.3 - 19 1623 c.1299T>C c.(1297-1299)ccT>ccC p.P433P MAP4K3_ENST00000437545.1_Silent_p.P349P|MAP4K3_ENST00000341681.5_Silent_p.P412P|MAP4K3_ENST00000536018.1_5'UTR NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 433 JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) GTGGCAAAGGAGGTGGAATTT 0.279000 15 18 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161618 90161618 + RNA SNP C C T rs13338202 by1000genomes TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr16:90161618C>T ENST00000564451.1 + 0 971 TUBB8P7_ENST00000567960.1_RNA p.D118D(2) CAGTGATGGACGTTGTCAGAA 0.607000 3 25 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78685178 78685178 + Missense_Mutation SNP C C G TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr3:78685178C>G ENST00000436010.2 - 21 3998 c.3001G>C c.(3001-3003)Gat>Cat p.D1001H ROBO1_ENST00000464233.1_Missense_Mutation_p.D1040H|ROBO1_ENST00000495273.1_Missense_Mutation_p.D995H|ROBO1_ENST00000467549.1_Intron Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1040 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) AGGTCCACATCACCATAAACA 0.398000 21 32 0 0 1 0 0 DNMT3B 1789 broad.mit.edu 37 20 31385104 31385104 + Splice_Site SNP C C T TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr20:31385104C>T ENST00000328111.2 + 14 1810 c.1490_splice c.e14+1 p.R497_splice DNMT3B_ENST00000353855.2_Splice_Site_p.R477_splice|DNMT3B_ENST00000348286.2_Splice_Site_p.R477_splice|DNMT3B_ENST00000201963.3_Splice_Site_p.R489_splice|DNMT3B_ENST00000344505.4_Splice_Site_p.R477_splice|DNMT3B_ENST00000456297.2_Splice_Site_p.R401_splice|DNMT3B_ENST00000443239.3_Splice_Site_p.R435_splice|DNMT3B_ENST00000375623.4_3'UTR NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 497 ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity). negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GAGCTGCTGCCGGTGAGCACT 0.572000 38 41 0 0 1 0 0 KIF13A 63971 broad.mit.edu 37 6 17826029 17826029 + Nonsense_Mutation SNP C C A TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr6:17826029C>A ENST00000378814.5 - 16 1755 c.1756G>T c.(1756-1758)Gaa>Taa p.E586* KIF13A_ENST00000378843.2_Nonsense_Mutation_p.E586*|KIF13A_ENST00000378826.2_Nonsense_Mutation_p.E586*|KIF13A_ENST00000259711.6_Nonsense_Mutation_p.E586*|KIF13A_ENST00000378816.5_Nonsense_Mutation_p.E586* NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 586 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) ATGATAACTTCCATCTGTGCA 0.473000 31 33 7.01153e-11 7.6793e-11 1 1 0 OR5D16 390144 broad.mit.edu 37 11 55607153 55607153 + Missense_Mutation SNP C C A TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr11:55607153C>A ENST00000378396.1 + 1 926 c.926C>A c.(925-927)aCa>aAa p.T309K NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) ATAATCAATACAAAATATTTT 0.328000 10 9 9.70103e-10 1.03778e-09 1 1 0 CCDC107 203260 broad.mit.edu 37 9 35660414 35660414 + Missense_Mutation SNP C C T TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr9:35660414C>T ENST00000421582.2 + 3 338 c.275C>T c.(274-276)gCg>gTg p.A92V ARHGEF39_ENST00000343259.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000426546.2_Missense_Mutation_p.A92V|CCDC107_ENST00000378406.1_Missense_Mutation_p.A92V|CCDC107_ENST00000327351.2_Missense_Mutation_p.A92V|CCDC107_ENST00000378407.3_Missense_Mutation_p.A92V|ARHGEF39_ENST00000378387.3_3'UTR|CCDC107_ENST00000378409.3_Missense_Mutation_p.A92V Q8WV48 CC107_HUMAN coiled-coil domain containing 107 92 integral to membrane endometrium(1)|lung(3)|skin(1) 5 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GATGAAACTGCGGTTCTCCAC 0.547000 21 35 0 0 1 0 0 ANKFN1 162282 broad.mit.edu 37 17 54554926 54554926 + Silent SNP C C T rs146488724 byFrequency TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr17:54554926C>T ENST00000566473.2 + 15 1860 c.1860C>T c.(1858-1860)agC>agT p.S620S ANKFN1_ENST00000318698.2_Silent_p.S620S Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 620 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 AGCTCTGTAGCTCTGTGGATC 0.373000 36 59 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 5 201 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52551013 52551013 + Silent SNP C C T TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr3:52551013C>T ENST00000321725.6 + 42 4453 c.4377C>T c.(4375-4377)tgC>tgT p.C1459C NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1459 EGF-like 11. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TGGACCCCTGCGCCCACGGCC 0.662000 32 31 0 0 1 0 0 ZNF235 9310 broad.mit.edu 37 19 44793323 44793323 + Missense_Mutation SNP T T C TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr19:44793323T>C ENST00000291182.4 - 5 367 c.265A>G c.(265-267)Act>Gct p.T89A ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron NM_004234.4 NP_004225.3 Q14590 ZN235_HUMAN zinc finger protein 235 89 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) TTGTGAAGAGTTGCCATCTCA 0.408000 31 30 0 0 1 0 0 CR1L 1379 broad.mit.edu 37 1 207867727 207867727 + Missense_Mutation SNP G G C TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr1:207867727G>C ENST00000508064.2 + 5 553 c.493G>C c.(493-495)Gcc>Ccc p.A165P CR1L_ENST00000530905.1_Intron NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 165 Sushi 3. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 CCCCACCATCGCCAATGGAGA 0.423000 28 34 0 0 1 0 0 IGFBP4 3487 broad.mit.edu 37 17 38610295 38610295 + Missense_Mutation SNP G G A TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr17:38610295G>A ENST00000269593.4 + 3 898 c.623G>A c.(622-624)gGc>gAc p.G208D IGFBP4_ENST00000542955.1_Missense_Mutation_p.G108D NM_001552.2 NP_001543.2 P22692 IBP4_HUMAN insulin-like growth factor binding protein 4 208 Thyroglobulin type-1. DNA metabolic process|signal transduction|skeletal system development NS(1)|endometrium(1)|kidney(1)|large_intestine(2) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) GACCGCAACGGCAACTTCCAC 0.662000 4 115 0 0 1 0 0 ZNF250 58500 broad.mit.edu 37 8 146108153 146108153 + Missense_Mutation SNP C C A TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr8:146108153C>A ENST00000292579.7 - 6 546 c.430G>T c.(430-432)Gtg>Ttg p.V144L ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.V139L NM_001109689.3|NM_021061.4 NP_001103159.1|NP_066405.1 P15622 ZN250_HUMAN zinc finger protein 250 144 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(2)|lung(8)|skin(1) 15 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) CCCAGAATCACTGTTTGCTCT 0.393000 74 223 6.30617e-38 7.25209e-38 1 1 0 NXN 64359 broad.mit.edu 37 17 704350 704350 + Nonsense_Mutation SNP G G A TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr17:704350G>A ENST00000336868.3 - 8 1238 c.1147C>T c.(1147-1149)Cga>Tga p.R383* NXN_ENST00000575801.1_Nonsense_Mutation_p.R275*|NXN_ENST00000538650.1_Nonsense_Mutation_p.R74*|NXN_ENST00000537628.2_Nonsense_Mutation_p.R134* NM_022463.4 NP_071908.2 Q6DKJ4 NXN_HUMAN nucleoredoxin 383 cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway cytosol|nucleus protein-disulfide reductase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) GTGTAATCTCGCAGGGAGTCA 0.582000 16 16 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 26 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 205989150 205989150 + Missense_Mutation SNP T T A TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr2:205989150T>A ENST00000406610.2 + 9 1472 c.1265T>A c.(1264-1266)aTa>aAa p.I422K PARD3B_ENST00000358768.2_Missense_Mutation_p.I422K|PARD3B_ENST00000462231.1_Missense_Mutation_p.I422K|PARD3B_ENST00000351153.1_Missense_Mutation_p.I422K|PARD3B_ENST00000349953.3_Missense_Mutation_p.I422K NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 422 PDZ 2. cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GGAGCAGCAATAAAAGATGGC 0.393000 12 98 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 105160995 105160995 + Missense_Mutation SNP C C T TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr8:105160995C>T ENST00000436393.2 + 23 3548 c.3307C>T c.(3307-3309)Cgc>Tgc p.R1103C RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 531 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CAAAAAGCGGCGCTCTAGCCT 0.527000 HNSCC(12;0.0054) 20 84 0 0 1 0 0 PCDHA1 0 broad.mit.edu 37 5 140165935 140165935 + Silent SNP C C A TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr5:140165935C>A ENST00000504120.2 + 1 60 c.60C>A c.(58-60)ctC>ctA p.L20L PCDHA1_ENST00000378133.3_Silent_p.L20L|PCDHA1_ENST00000394633.3_Silent_p.L20L NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCTTCTGCTCCTCGCAGCCT 0.592000 6 111 3.59834e-05 3.59834e-05 1 1 0 TEKT4 150483 broad.mit.edu 37 2 95539305 95539305 + Missense_Mutation SNP G G A TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr2:95539305G>A ENST00000295201.4 + 2 676 c.539G>A c.(538-540)aGa>aAa p.R180K AC097374.2_ENST00000568768.1_RNA NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 180 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 CTGCTGAAGAGAACCATCATG 0.607000 16 24 0 0 1 0 0 GRIA1 0 broad.mit.edu 37 5 153144045 153144045 + Silent SNP C C A TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr5:153144045C>A ENST00000285900.5 + 12 2218 c.1875C>A c.(1873-1875)atC>atA p.I625I GRIA1_ENST00000521843.2_Silent_p.I556I|GRIA1_ENST00000448073.4_Silent_p.I635I|GRIA1_ENST00000518142.1_Silent_p.I545I|GRIA1_ENST00000518783.1_Silent_p.I635I|GRIA1_ENST00000340592.5_Silent_p.I625I NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 625 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|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|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TCACCTTAATCATCATCTCCT 0.542000 24 40 1.10923e-09 1.15965e-09 1 1 0 NLGN3 54413 broad.mit.edu 37 X 70375183 70375183 + Missense_Mutation SNP A A T TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chrX:70375183A>T ENST00000374051.3 + 4 959 c.637A>T c.(637-639)Atc>Ttc p.I213F NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.I193F|NLGN3_ENST00000358741.3_Missense_Mutation_p.I233F NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 233 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) TGTCATCGTCATCACCCTCAA 0.532000 4 47 0 0 1 0 0 TP53BP2 7159 broad.mit.edu 37 1 223986326 223986326 + Frame_Shift_Del DEL T T - TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr1:223986326delT ENST00000391878.2 - 13 1920 c.1152delA c.(1150-1152)aafs p.K384fs TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Frame_Shift_Del_p.K513fs|TP53BP2_ENST00000391879.2_Intron NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 507 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) AATTAATCTGTTTTGGTTTTG 0.383 55 6 --- --- --- --- KIAA2026 158358 broad.mit.edu 37 9 5968044 5968044 + Frame_Shift_Del DEL T T - TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr9:5968044delT ENST00000399933.3 - 3 2186 c.2187delA c.(2185-2187)aafs p.K729fs KIAA2026_ENST00000381461.2_Frame_Shift_Del_p.K729fs NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 729 Lys-rich. p.A730fs*15(1) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TGTGTTTTGCTTTTTTTTTGA 0.323 2 4 --- --- --- --- HINT2 84681 broad.mit.edu 37 9 35813705 35813705 + Frame_Shift_Del DEL G G - TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr9:35813705delG ENST00000259667.5 - 2 199 c.158delC c.(157-159)cafs p.P53fs HINT2_ENST00000474908.1_5'UTR NM_032593.2 NP_115982.1 Q9BX68 HINT2_HUMAN histidine triad nucleotide binding protein 2 53 apoptosis|steroid biosynthetic process mitochondrion hydrolase activity NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 7 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) GAAGATGGTTGGGGCTGCTCC 0.572 OREG0019179 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 22 --- --- --- --- TLE4 7091 broad.mit.edu 37 9 82187726 82187727 + Translation_Start_Site INS - - ATGT TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr9:82187726_82187727insATGT ENST00000376534.4 + 0 187_188 TLE4_ENST00000376520.4_Frame_Shift_Ins_p.NV7fs|TLE4_ENST00000376544.3_Frame_Shift_Ins_p.NV7fs|TLE4_ENST00000376552.2_Frame_Shift_Ins_p.NV7fs|TLE4_ENST00000265284.6_Frame_Shift_Ins_p.NV7fs|TLE4_ENST00000376537.4_Frame_Shift_Ins_p.NV7fs O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 ACCTGAGCAAGATGTACCCGCA 0.683 9 28 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17131536 17131537 + RNA INS - - CTG rs34452519 TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr22:17131536_17131537insCTG ENST00000426585.1 + 0 2562_2563 TGCCCACTCTTCTGGTCTCATG 0.540 2 4 --- --- --- --- SF3A1 10291 broad.mit.edu 37 22 30752730 30752730 + Frame_Shift_Del DEL C C - TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chr22:30752730delC ENST00000439242.1 - 1 183 c.52delG c.(52-54)agfs p.E18fs CCDC157_ENST00000338306.3_5'UTR|SF3A1_ENST00000215793.7_Frame_Shift_Del_p.E18fs|CCDC157_ENST00000405659.1_5'UTR|CCDC157_ENST00000399824.2_5'UTR NM_001005409.1 NP_001005409.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 18 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 TGTTTGGGCTCCGTGGGCACG 0.721 2 4 --- --- --- --- UXT 8409 broad.mit.edu 37 X 47511500 47511500 + Frame_Shift_Del DEL G G - TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx da45f3a1-439a-45b0-8e3d-9761899018a9 ef22c980-b6f4-4ffc-a877-20515c382c67 g.chrX:47511500delG ENST00000335890.2 - 5 589 c.436delC c.(436-438)atfs p.H146fs UXT_ENST00000460840.1_5'UTR|UXT_ENST00000333119.3_Frame_Shift_Del_p.H134fs NM_153477.2 NP_705582.1 Q9UBK9 UXT_HUMAN ubiquitously-expressed, prefoldin-like chaperone 134 centrosome organization|mitochondrion transport along microtubule|protein folding centrosome|nucleus|prefoldin complex beta-tubulin binding|microtubule binding|unfolded protein binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1) 6 ATGTGGATATGGGCTTTGATA 0.488 2 4 --- --- --- ---