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_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut ZMYM6 9204 broad.mit.edu 37 1 35453123 35453123 + Missense_Mutation SNP A A C TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr1:35453123A>C uc001byh.2 - 16 3788 c.3560T>G c.(3559-3561)ATT>AGT p.I1187S uc001byd.3_5'Flank|uc001bye.2_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc010oht.1_Missense_Mutation_p.I1090S NM_007167 NP_009098 O95789 ZMYM6_HUMAN zinc finger protein 258 1187 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(3) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) GTGCTCAAAAATAATCCTTGT 0.299 NA 9 63 0 0 0 0 RLF 6018 broad.mit.edu 37 1 40703347 40703347 + Silent SNP A A G TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr1:40703347A>G uc001cfc.3 + 8 3004 c.2973A>G c.(2971-2973)AAA>AAG p.K991K RLF_uc001cfd.3_Silent_p.K682K NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 991 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) TAAAGACGAAAGATCTGTTTC 0.408 NA 14 43 0 0 0 0 ERMAP 114625 broad.mit.edu 37 1 43305715 43305715 + Missense_Mutation SNP A A T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr1:43305715A>T uc001cic.1 + 9 919 c.649A>T c.(649-651)AGT>TGT p.S217C ERMAP_uc001cid.1_RNA|ERMAP_uc001cie.1_Missense_Mutation_p.S217C|ERMAP_uc001cif.1_Missense_Mutation_p.S127C NM_001017922 NP_001017922 Q96PL5 ERMAP_HUMAN erythroblast membrane-associated protein 217 Cytoplasmic (Potential). Missing (in Sc-3 allele). integral to membrane|plasma membrane ovary(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAAACTCCGGAGTGAACTGAG 0.438 NA 45 129 0 0 0 0 ANKRD13C 81573 broad.mit.edu 37 1 70758091 70758091 + Missense_Mutation SNP T T G TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr1:70758091T>G uc001dex.3 - 9 1521 c.1195A>C c.(1195-1197)ATA>CTA p.I399L ANKRD13C_uc009wbk.2_Missense_Mutation_p.I364L NM_030816 NP_110443 Q8N6S4 AN13C_HUMAN ankyrin repeat domain 13C 399 protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process endoplasmic reticulum membrane|perinuclear region of cytoplasm receptor binding 0 TGTTCCATTATGTTTCCACCT 0.338 NA 15 57 0 0 0 0 CASQ2 845 broad.mit.edu 37 1 116280931 116280931 + Missense_Mutation SNP A A C TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr1:116280931A>C uc001efx.3 - 4 710 c.446T>G c.(445-447)ATC>AGC p.I149S CASQ2_uc010owu.1_Intron NM_001232 NP_001223 O14958 CASQ2_HUMAN cardiac calsequestrin 2 precursor 149 heart development|striated muscle contraction sarcoplasmic reticulum lumen calcium ion binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) TTTGCTGCTGATGATCTCCAC 0.443 NA 47 121 0 0 0 0 ZNF687 57592 broad.mit.edu 37 1 151259824 151259824 + Missense_Mutation SNP C C T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr1:151259824C>T uc001exq.2 + 2 1155 c.1057C>T c.(1057-1059)CCT>TCT p.P353S ZNF687_uc001exp.1_Missense_Mutation_p.P362S|ZNF687_uc009wmo.2_Missense_Mutation_p.P353S|ZNF687_uc009wmp.2_Missense_Mutation_p.P353S NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN zinc finger protein 687 353 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding central_nervous_system(3)|ovary(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CCCCTCAGATCCTGATCCACC 0.562 NA 29 65 0 0 0 0 ADAM15 8751 broad.mit.edu 37 1 155034393 155034393 + Missense_Mutation SNP A A G TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr1:155034393A>G uc001fgr.1 + 21 2467 c.2366A>G c.(2365-2367)GAC>GGC p.D789G EFNA3_uc010pew.1_5'Flank|ADAM15_uc001fgq.1_Missense_Mutation_p.D473G|ADAM15_uc001fgt.1_Missense_Mutation_p.D788G|ADAM15_uc010pev.1_Intron|ADAM15_uc001fgs.1_Intron|ADAM15_uc001fgu.1_Missense_Mutation_p.D764G|ADAM15_uc001fgw.1_Intron|ADAM15_uc001fgv.1_Intron|ADAM15_uc001fgx.1_Intron|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_Intron|EFNA4_uc001fhc.2_5'Flank|EFNA4_uc001fhd.2_5'Flank|EFNA4_uc001fhe.2_5'Flank NM_207197 NP_997080 Q13444 ADA15_HUMAN a disintegrin and metalloproteinase domain 15 789 Cytoplasmic (Potential). angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding central_nervous_system(3)|skin(2)|ovary(1) 6 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) GAGCTGGCTGACCGACCCAAT 0.642 NA OREG0013848 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 145 0 0 0 0 BCAN 63827 broad.mit.edu 37 1 156618415 156618415 + Silent SNP G G A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr1:156618415G>A uc001fpp.2 + 6 1161 c.825G>A c.(823-825)GCG>GCA p.A275A BCAN_uc001fpo.2_Silent_p.A275A NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 275 Link 2. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AAGCACGGGCGTACTGCCAGG 0.498 NA 24 126 0 0 0 0 CFH 3075 broad.mit.edu 37 1 196658702 196658702 + Missense_Mutation SNP C C T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr1:196658702C>T uc001gtj.3 + 8 1357 c.1117C>T c.(1117-1119)CAT>TAT p.H373Y CFH_uc001gti.3_Missense_Mutation_p.H373Y|CFH_uc009wyw.2_Missense_Mutation_p.H348Y|CFH_uc009wyx.2_Missense_Mutation_p.H309Y NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 373 Sushi 6. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 GGATCACATTCATTGCACACA 0.393 NA 9 130 0 0 0 0 URB2 9816 broad.mit.edu 37 1 229773396 229773396 + Silent SNP C C A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr1:229773396C>A uc001hts.1 + 4 3172 c.3036C>A c.(3034-3036)CTC>CTA p.L1012L URB2_uc009xfd.1_Silent_p.L1012L NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 1012 nucleolus central_nervous_system(2)|ovary(1) 3 TGCAGATGCTCATCCAAATGA 0.448 NA 26 49 1.64e-13 2e-13 1 0 OR2C3 81472 broad.mit.edu 37 1 247695697 247695697 + Silent SNP C C G TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr1:247695697C>G uc009xgy.2 - 2 479 c.117G>C c.(115-117)TCG>TCC p.S39S C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank NM_198074 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, 39 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) TGCCCAAGATCGATACCATGT 0.473 NA 25 109 0 0 0 0 OR5I1 10798 broad.mit.edu 37 11 55703033 55703033 + Missense_Mutation SNP T T C TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr11:55703033T>C uc010ris.1 - 1 844 c.844A>G c.(844-846)ATT>GTT p.I282V NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 282 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GGAATGAAAATGGTGTAGAAC 0.383 NA 12 26 0 0 0 0 MS4A12 54860 broad.mit.edu 37 11 60264874 60264874 + Missense_Mutation SNP C C A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr11:60264874C>A uc001npr.2 + 2 140 c.83C>A c.(82-84)CCT>CAT p.P28H MS4A12_uc009ynb.2_Missense_Mutation_p.P28H NM_017716 NP_060186 Q9NXJ0 M4A12_HUMAN membrane-spanning 4-domains, subfamily A, member 28 Cytoplasmic (Potential). integral to membrane receptor activity 0 TTTATGGCTCCTGGATTTCAA 0.478 NA 27 83 2.49e-11 2.98e-11 1 0 PC 5091 broad.mit.edu 37 11 66617874 66617874 + Silent SNP G G A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr11:66617874G>A uc001ojn.1 - 17 2584 c.2535C>T c.(2533-2535)TAC>TAT p.Y845Y PC_uc001ojo.1_Silent_p.Y845Y|PC_uc001ojp.1_Silent_p.Y845Y|PC_uc001ojm.1_5'Flank NM_022172 NP_071504 P11498 PYC_HUMAN pyruvate carboxylase precursor 845 gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity ovary(2)|lung(1)|kidney(1) 4 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) CGAAGGCCGCGTACAGTCCCC 0.597 NA 9 87 0 0 0 0 MMP8 4317 broad.mit.edu 37 11 102585393 102585393 + Missense_Mutation SNP G G A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr11:102585393G>A uc001phe.2 - 8 1183 c.1084C>T c.(1084-1086)CCC>TCC p.P362S MMP8_uc010rut.1_Intron|MMP8_uc010ruu.1_Missense_Mutation_p.P339S NM_002424 NP_002415 P22894 MMP8_HUMAN matrix metalloproteinase 8 preproprotein 362 Hemopexin-like 2. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) ATATCCTTGGGATAACCTTGC 0.383 NA 10 174 0 0 0 0 PARP11 57097 broad.mit.edu 37 12 3935380 3935380 + Silent SNP G G A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr12:3935380G>A uc001qmk.1 - 3 322 c.267C>T c.(265-267)CTC>CTT p.L89L PARP11_uc001qml.2_Silent_p.L96L|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Silent_p.L15L|PARP11_uc001qmn.2_Silent_p.L15L NM_020367 NP_065100 Q9NR21 PAR11_HUMAN poly (ADP-ribose) polymerase family, member 11 89 WWE. NAD+ ADP-ribosyltransferase activity ovary(1)|central_nervous_system(1) 2 all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264) TTCCAGTGGTGAGATTCATTT 0.358 NA 23 172 0 0 0 0 DPPA3 359787 broad.mit.edu 37 12 7864205 7864205 + Silent SNP G G T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr12:7864205G>T uc001qtf.2 + 1 117 c.39G>T c.(37-39)GGG>GGT p.G13G NM_199286 NP_954980 Q6W0C5 DPPA3_HUMAN stella 13 cytoplasm|nucleus 0 Kidney(36;0.0887) ACATCCCAGGGTCTCCACAAA 0.483 NA 3 43 0.004672 0.00501936 1 0 PDZRN4 29951 broad.mit.edu 37 12 41966610 41966610 + Missense_Mutation SNP G G A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr12:41966610G>A uc010skn.1 + 10 1500 c.1432G>A c.(1432-1434)GAG>AAG p.E478K PDZRN4_uc001rmq.3_Missense_Mutation_p.E419K|PDZRN4_uc009zjz.2_Missense_Mutation_p.E417K|PDZRN4_uc001rmr.2_Missense_Mutation_p.E304K NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 677 Potential. ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GAGAAACATTGAGCTTGAGTG 0.453 NA 13 80 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49434544 49434544 + Nonsense_Mutation SNP G G A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr12:49434544G>A uc001rta.3 - 31 7009 c.7009C>T c.(7009-7011)CAG>TAG p.Q2337* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2337 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GGCTCTACCTGAGATGCCCGA 0.627 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 17 38 0 0 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54936370 54936370 + Silent SNP G G A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr12:54936370G>A uc001sgc.3 + 31 3364 c.3285G>A c.(3283-3285)GAG>GAA p.E1095E NCKAP1L_uc010sox.1_Silent_p.E637E|NCKAP1L_uc010soy.1_Silent_p.E1045E NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 1095 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 TGGTGGAGGAGTCATCCTTCC 0.527 NA 18 136 0 0 0 0 LRIG3 121227 broad.mit.edu 37 12 59266402 59266402 + Missense_Mutation SNP T T G TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr12:59266402T>G uc001sqr.2 - 19 3558 c.3312A>C c.(3310-3312)TTA>TTC p.L1104F LRIG3_uc009zqh.2_Missense_Mutation_p.L1044F|LRIG3_uc010ssh.1_RNA NM_153377 NP_700356 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like 1104 integral to membrane skin(3)|ovary(1) 4 GBM - Glioblastoma multiforme(1;1.17e-18) TGTAGTTTTCTAAAGTCTGTT 0.383 NA 16 98 0 0 0 0 DPY19L2 283417 broad.mit.edu 37 12 64041067 64041067 + Missense_Mutation SNP C C T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr12:64041067C>T uc001srp.1 - 5 848 c.667G>A c.(667-669)GTC>ATC p.V223I DPY19L2_uc009zqk.1_RNA NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 223 multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) ATTCTGGTGACATTCCAGCAG 0.318 NA 17 133 0 0 0 0 PIWIL1 9271 broad.mit.edu 37 12 130847537 130847537 + Silent SNP G G A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr12:130847537G>A uc001uik.2 + 18 2133 c.2043G>A c.(2041-2043)GCG>GCA p.A681A PIWIL1_uc001uij.1_Silent_p.A681A NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 681 Piwi. gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) CTGTTTCAGCGGCTCTGAGGG 0.512 NA 26 62 0 0 0 0 WASF3 10810 broad.mit.edu 37 13 27255411 27255411 + Missense_Mutation SNP C C T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr13:27255411C>T uc001uqv.2 + 8 1162 c.937C>T c.(937-939)CCA>TCA p.P313S WASF3_uc001uqw.2_Missense_Mutation_p.P310S NM_006646 NP_006637 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 313 actin filament polymerization cytoplasm|cytoskeleton actin binding pancreas(1) 1 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CCCTCAGGCCCCAGAGGGGTC 0.652 NA 32 97 0 0 0 0 BRCA2 675 broad.mit.edu 37 13 32936727 32936727 + Nonsense_Mutation SNP A A T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr13:32936727A>T uc001uub.1 + 17 8100 c.7873A>T c.(7873-7875)AGA>TGA p.R2625* NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2625 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TAATCACTATAGATGGATCAT 0.368 NA D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 26 72 0 0 0 0 SPTB 6710 broad.mit.edu 37 14 65239589 65239589 + Silent SNP G G A rs142168941 TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr14:65239589G>A uc001xht.2 - 25 5316 c.5262C>T c.(5260-5262)ATC>ATT p.I1754I SPTB_uc001xhr.2_Silent_p.I1754I|SPTB_uc001xhs.2_Silent_p.I1754I|SPTB_uc001xhu.2_Silent_p.I1754I|SPTB_uc010aqi.2_Silent_p.I415I NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 1754 Spectrin 14. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TGAGTCGCTCGATGAAGGCAT 0.637 NA 12 21 0 0 0 0 ABCD4 5826 broad.mit.edu 37 14 74766262 74766262 + Missense_Mutation SNP G G C TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr14:74766262G>C uc001xpr.2 - 3 426 c.274C>G c.(274-276)CTG>GTG p.L92V ABCD4_uc001xps.2_Intron|ABCD4_uc001xpt.2_Intron|ABCD4_uc010tur.1_Missense_Mutation_p.L5V|ABCD4_uc001xpu.2_5'UTR|ABCD4_uc001xpv.2_Intron NM_005050 NP_005041 O14678 ABCD4_HUMAN ATP-binding cassette, sub-family D, member 4 92 ABC transmembrane type-1.|Helical; (Potential). ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00153) GTGGAGTTCAGAACAATGAGC 0.512 NA 20 72 0 0 0 0 NRXN3 9369 broad.mit.edu 37 14 79181301 79181301 + Missense_Mutation SNP G G C TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr14:79181301G>C uc001xun.2 + 5 1235 c.744G>C c.(742-744)AAG>AAC p.K248N NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.K382N NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 621 Extracellular (Potential).|Laminin G-like 3. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GGCGCAGCAAGAACATTCGAC 0.557 NA 11 36 0 0 0 0 LTK 4058 broad.mit.edu 37 15 41797201 41797201 + Missense_Mutation SNP C C T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr15:41797201C>T uc001zoa.3 - 16 2165 c.1987G>A c.(1987-1989)GGG>AGG p.G663R LTK_uc001zob.3_Missense_Mutation_p.G602R|LTK_uc010ucx.1_Missense_Mutation_p.G533R|LTK_uc010bcg.2_Missense_Mutation_p.G361R NM_002344 NP_002335 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase isoform 1 663 Protein kinase.|Cytoplasmic (Potential). apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|central_nervous_system(1) 7 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) CCAAAGTCCCCAATCTTGGCC 0.567 NA TSP Lung(18;0.14) 11 32 0 0 0 0 THSD4 79875 broad.mit.edu 37 15 72023537 72023538 + Missense_Mutation DNP GC GC AT TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr15:72023537_72023538GC>AT uc002atb.1 + 9 1690_1691 c.1611_1612GC>AT c.(1609-1614)GTGCCA>GTATCA p.P538S THSD4_uc002atd.1_3'UTR|THSD4_uc010ukg.1_Missense_Mutation_p.P178S|THSD4_uc002ate.2_Missense_Mutation_p.P178S NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 538 proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 GCCCCCAGGTGCCACCCCACAG 0.54 NA OREG0023247 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 47 0 0 0 0 SMG1 23049 broad.mit.edu 37 16 18881315 18881315 + Missense_Mutation SNP T T C TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr16:18881315T>C uc002dfm.2 - 19 2857 c.2494A>G c.(2494-2496)AAT>GAT p.N832D SMG1_uc010bwb.2_Missense_Mutation_p.N692D NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 832 Interaction with SMG8 and SMG9. N -> D. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 TGATTGTTATTGCTGTAGACA 0.318 NA 5 9 0 0 0 0 DNAH3 55567 broad.mit.edu 37 16 20998737 20998737 + Missense_Mutation SNP C C T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr16:20998737C>T uc010vbe.1 - 47 6916 c.6916G>A c.(6916-6918)GAG>AAG p.E2306K DNAH3_uc010vbd.1_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2306 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) CGATAAACCTCATGGATCCAA 0.418 NA 15 82 0 0 0 0 UBFD1 56061 broad.mit.edu 37 16 23570829 23570829 + Silent SNP C C T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr16:23570829C>T uc002dlv.2 + 3 598 c.396C>T c.(394-396)CTC>CTT p.L132L EARS2_uc002dls.3_5'Flank|EARS2_uc002dlt.3_5'Flank|EARS2_uc002dlu.2_5'Flank NM_019116 NP_061989 O14562 UBFD1_HUMAN ubiquitin-binding protein homolog 132 Ubiquitin-like. 0 GBM - Glioblastoma multiforme(48;0.0331) ATAAGGGACTCGTCCCCGAGG 0.418 NA 8 40 0 0 0 0 GTF3C1 2975 broad.mit.edu 37 16 27483198 27483198 + Missense_Mutation SNP T T C TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr16:27483198T>C uc002dov.1 - 30 4437 c.4397A>G c.(4396-4398)AAG>AGG p.K1466R GTF3C1_uc002dou.2_Missense_Mutation_p.K1466R NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1466 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 CATGAAGGCCTTCACAAGAAC 0.627 NA 18 62 0 0 0 0 HPR 3250 broad.mit.edu 37 16 72110554 72110554 + Silent SNP C C T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr16:72110554C>T uc002fby.2 + 5 651 c.621C>T c.(619-621)ATC>ATT p.I207I TXNL4B_uc010cgl.2_Intron NM_020995 NP_066275 P00739 HPTR_HUMAN haptoglobin-related protein precursor 207 Peptidase S1. proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1) 1 Ovarian(137;0.125) TGATGCCCATCTGCCTACCTT 0.448 NA 19 141 0 0 0 0 LRRC50 123872 broad.mit.edu 37 16 84203819 84203819 + Missense_Mutation SNP A A G TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr16:84203819A>G uc002fhl.3 + 8 1566 c.1385A>G c.(1384-1386)CAA>CGA p.Q462R LRRC50_uc010vnw.1_Missense_Mutation_p.Q226R NM_178452 NP_848547 Q8NEP3 DAAF1_HUMAN leucine rich repeat containing 50 462 Pro-rich. axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding 0 GATGGAGATCAAGAGCCAGAG 0.612 NA Kartagener_syndrome 11 120 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577556 7577556 + Missense_Mutation SNP C C T rs121912655 TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr17:7577556C>T uc002gim.2 - 7 919 c.725G>A c.(724-726)TGC>TAC p.C242Y TP53_uc002gig.1_Missense_Mutation_p.C242Y|TP53_uc002gih.2_Missense_Mutation_p.C242Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C110Y|TP53_uc010cng.1_Missense_Mutation_p.C110Y|TP53_uc002gii.1_Missense_Mutation_p.C110Y|TP53_uc010cnh.1_Missense_Mutation_p.C242Y|TP53_uc010cni.1_Missense_Mutation_p.C242Y|TP53_uc002gij.2_Missense_Mutation_p.C242Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C149Y|TP53_uc002gio.2_Missense_Mutation_p.C110Y NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 242 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). Zinc. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C242F(63)|p.C242Y(37)|p.C242S(25)|p.C242fs*5(16)|p.C242R(11)|p.C242W(7)|p.0?(7)|p.N239_C242delNSSC(3)|p.C242*(3)|p.C242C(2)|p.C242G(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*98(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241_G245delSCMGG(1)|p.N239_C242del(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCCGCCCATGCAGGAACTGTT 0.577 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 36 62 0 0 0 0 SCO1 6341 broad.mit.edu 37 17 10584496 10584496 + Silent SNP C C T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr17:10584496C>T uc002gmr.3 - 6 907 c.846G>A c.(844-846)AGG>AGA p.R282R SCO1_uc002gms.3_Silent_p.R251R NM_004589 NP_004580 O75880 SCO1_HUMAN cytochrome oxidase deficient homolog 1 282 cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly mitochondrial inner membrane copper ion binding 0 TTTCTCCCTTCCTCTTGTTCT 0.438 NA 46 74 0 0 0 0 MKNK2 2872 broad.mit.edu 37 19 2041985 2041985 + Missense_Mutation SNP C C G TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr19:2041985C>G uc002lus.2 - 11 1044 c.799G>C c.(799-801)GAG>CAG p.E267Q MKNK2_uc002luq.1_Missense_Mutation_p.E11Q|MKNK2_uc010xgu.1_Missense_Mutation_p.E106Q|MKNK2_uc010xgv.1_Missense_Mutation_p.E136Q|MKNK2_uc002lur.2_Missense_Mutation_p.E267Q|MKNK2_uc002lut.1_Missense_Mutation_p.E11Q NM_199054 NP_951009 Q9HBH9 MKNK2_HUMAN MAP kinase-interacting serine/threonine kinase 2 267 Protein kinase. cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation ATP binding|metal ion binding|protein serine/threonine kinase activity lung(1)|breast(1) 2 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTAGCCTCCTCGCTGAAGGCC 0.667 NA 3 8 0 0 0 0 TLE6 79816 broad.mit.edu 37 19 2987759 2987759 + Missense_Mutation SNP G G A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr19:2987759G>A uc002lwu.2 + 8 627 c.227G>A c.(226-228)GGA>GAA p.G76E TLE6_uc002lwt.2_Missense_Mutation_p.G199E|TLE6_uc010dtg.2_Missense_Mutation_p.G199E|TLE6_uc002lwv.2_5'UTR NM_024760 NP_079036 Q9H808 TLE6_HUMAN transducin-like enhancer of split 6 isoform 2 76 regulation of transcription, DNA-dependent nucleus ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGTGACCCAGGAACAGACCCA 0.607 NA 7 91 0 0 0 0 CHAF1A 10036 broad.mit.edu 37 19 4418037 4418037 + Silent SNP A A G TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr19:4418037A>G uc002mal.2 + 4 1081 c.981A>G c.(979-981)AAA>AAG p.K327K NM_005483 NP_005474 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 327 Arg/Glu/Lys-rich. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding ovary(1)|skin(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) AATTCGTCAAAGGCTCTACAG 0.353 NA Chromatin_Structure 7 97 0 0 0 0 ZNF493 284443 broad.mit.edu 37 19 21606460 21606460 + Silent SNP C C T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr19:21606460C>T uc002npx.2 + 2 895 c.615C>T c.(613-615)TTC>TTT p.F205F ZNF493_uc002npw.2_Silent_p.F333F|ZNF493_uc002npy.2_Silent_p.F205F NM_175910 NP_787106 Q6ZR52 ZN493_HUMAN zinc finger protein 493 isoform 1 205 C2H2-type 7; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTAGTATTTTCTCAACCCCTA 0.348 NA 4 90 0 0 0 0 CHST8 64377 broad.mit.edu 37 19 34263477 34263477 + Missense_Mutation SNP G G A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr19:34263477G>A uc002nus.3 + 5 1289 c.784G>A c.(784-786)GAG>AAG p.E262K CHST8_uc002nut.3_Missense_Mutation_p.E262K|CHST8_uc002nuu.2_Missense_Mutation_p.E262K NM_001127895 NP_001121367 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) 262 PAPS (By similarity).|Lumenal (Potential). carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity skin(2)|large_intestine(1)|ovary(1) 4 Esophageal squamous(110;0.162) CGAGCCCTTCGAGAGGCTGGT 0.617 NA 7 95 0 0 0 0 LMTK3 114783 broad.mit.edu 37 19 48989041 48989041 + Missense_Mutation SNP C C A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr19:48989041C>A uc002pjk.2 - 16 4459 c.4459G>T c.(4459-4461)GTG>TTG p.V1487L NM_001080434 NP_001073903 lemur tyrosine kinase 3 lung(5)|central_nervous_system(1) 6 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) CAATTCTCCACGGGGCCTGAG 0.458 NA 7 15 0.00307968 0.003321 1 0 HADHA 3030 broad.mit.edu 37 2 26415267 26415267 + Missense_Mutation SNP T T C TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr2:26415267T>C uc002rgy.2 - 18 2042 c.1912A>G c.(1912-1914)ATC>GTC p.I638V HADHA_uc010yks.1_Missense_Mutation_p.I551V NM_000182 NP_000173 P40939 ECHA_HUMAN mitochondrial trifunctional protein, alpha 638 fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) TCCTGATAGATGTAAAAGCCC 0.428 NA 15 49 0 0 0 0 CCDC88A 55704 broad.mit.edu 37 2 55573405 55573405 + Missense_Mutation SNP C C T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr2:55573405C>T uc002ryv.2 - 10 1789 c.947G>A c.(946-948)CGA>CAA p.R316Q CCDC88A_uc010yoz.1_Missense_Mutation_p.R316Q|CCDC88A_uc010ypa.1_Missense_Mutation_p.R316Q|CCDC88A_uc010ypb.1_Missense_Mutation_p.R218Q NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 316 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 TGCTTTCTCTCGAAGTGCATC 0.333 NA 30 93 0 0 0 0 MERTK 10461 broad.mit.edu 37 2 112732906 112732906 + Missense_Mutation SNP T T C TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr2:112732906T>C uc002thk.1 + 7 1123 c.1001T>C c.(1000-1002)ATT>ACT p.I334T MERTK_uc002thl.1_Missense_Mutation_p.I158T NM_006343 NP_006334 Q12866 MERTK_HUMAN MER receptor tyrosine kinase precursor 334 Fibronectin type-III 1.|Extracellular (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1) 9 TCAGTCATGATTTTTAACACC 0.473 NA 54 166 0 0 0 0 MYO7B 4648 broad.mit.edu 37 2 128390861 128390861 + Missense_Mutation SNP C C A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr2:128390861C>A uc002top.2 + 39 5409 c.5356C>A c.(5356-5358)CAG>AAG p.Q1786K MYO7B_uc002tos.1_5'Flank|MYO7B_uc002tot.2_5'Flank NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 1786 MyTH4 2. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GCCCCCGCACCAGGTGGAGGT 0.667 NA 4 24 0.000602214 0.000659242 1 0 LRP1B 53353 broad.mit.edu 37 2 141457953 141457953 + Missense_Mutation SNP T T C TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr2:141457953T>C uc002tvj.1 - 41 7637 c.6665A>G c.(6664-6666)AAG>AGG p.K2222R NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2222 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TATGACATTCTTGAAATAACG 0.318 NA TSP Lung(27;0.18) 35 143 0 0 0 0 ASNSD1 54529 broad.mit.edu 37 2 190532561 190532561 + Silent SNP G G A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr2:190532561G>A uc002uqt.2 + 5 1970 c.1536G>A c.(1534-1536)TCG>TCA p.S512S NM_019048 NP_061921 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 512 Asparagine synthetase. asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) GCTTTCAGTCGCATGGGCTGG 0.413 NA 4 142 0 0 0 0 JAG1 182 broad.mit.edu 37 20 10653370 10653370 + Silent SNP C C G TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr20:10653370C>G uc002wnw.2 - 2 882 c.366G>C c.(364-366)CTG>CTC p.L122L NM_000214 NP_000205 P78504 JAG1_HUMAN jagged 1 precursor 122 Extracellular (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1) 9 AACTGAAAGGCAGCACGATGC 0.677 NA Alagille_Syndrome 9 30 0 0 0 0 XRN2 22803 broad.mit.edu 37 20 21314185 21314186 + Missense_Mutation DNP GA GA AT TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr20:21314185_21314186GA>AT uc002wsf.1 + 10 957_958 c.862_863GA>AT c.(862-864)GAT>ATT p.D288I XRN2_uc002wsg.1_Missense_Mutation_p.D212I|XRN2_uc010zsk.1_Missense_Mutation_p.D234I NM_012255 NP_036387 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 288 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding skin(1) 1 CTTGCAGCATGATGAACTTGCC 0.391 NA 17 129 0 0 0 0 SUN5 140732 broad.mit.edu 37 20 31587923 31587923 + Missense_Mutation SNP C C G TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr20:31587923C>G uc002wyi.2 - 5 390 c.297G>C c.(295-297)CAG>CAC p.Q99H NM_080675 NP_542406 Q8TC36 SUN5_HUMAN sperm associated antigen 4-like 99 spermatogenesis skin(1) 1 CCATGAGCTTCTGGCACAGCA 0.552 NA 8 47 0 0 0 0 PTPRT 11122 broad.mit.edu 37 20 41101056 41101056 + Nonsense_Mutation SNP G G A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr20:41101056G>A uc002xkg.2 - 8 1484 c.1300C>T c.(1300-1302)CAG>TAG p.Q434* PTPRT_uc010ggj.2_Nonsense_Mutation_p.Q434* NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 434 Extracellular (Potential).|Fibronectin type-III 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GCCTCGTACTGCTGCTGGTTG 0.627 NA 50 59 0 0 0 0 MYT1 4661 broad.mit.edu 37 20 62871243 62871243 + Missense_Mutation SNP G G T rs139674530 TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr20:62871243G>T uc002yii.2 + 22 3588 c.3224G>T c.(3223-3225)CGC>CTC p.R1075L MYT1_uc002yij.2_Missense_Mutation_p.R734L|MYT1_uc002yik.2_Missense_Mutation_p.R41L NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 1075 R -> H (in Ref. 5; AAA59897). cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GCCAATATCCGCCTTCCGCAC 0.622 NA 37 114 7.04e-22 8.7e-22 1 0 DOPEY2 9980 broad.mit.edu 37 21 37623566 37623566 + Missense_Mutation SNP G G A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr21:37623566G>A uc002yvg.2 + 22 5184 c.5105G>A c.(5104-5106)CGT>CAT p.R1702H DOPEY2_uc011aeb.1_Missense_Mutation_p.R1651H|DOPEY2_uc002yvh.2_Missense_Mutation_p.R553H NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 1702 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 AAAGCCCAGCGTCACAGTAAG 0.423 NA 13 77 0 0 0 0 PDE9A 5152 broad.mit.edu 37 21 44153465 44153465 + Splice_Site SNP G G A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr21:44153465G>A uc002zbm.2 + 7 561 c.498_splice c.e7-1 p.R166_splice PDE9A_uc002zbn.2_Splice_Site_p.R39_splice|PDE9A_uc002zbo.2_Splice_Site_p.R113_splice|PDE9A_uc002zbp.2_Splice_Site|PDE9A_uc002zbq.2_Splice_Site_p.R64_splice|PDE9A_uc002zbs.2_Splice_Site|PDE9A_uc002zbr.2_Splice_Site|PDE9A_uc002zbt.2_Splice_Site_p.R38_splice|PDE9A_uc002zbu.2_Splice_Site_p.R32_splice|PDE9A_uc002zbv.2_Splice_Site_p.R6_splice|PDE9A_uc002zbw.2_Splice_Site|PDE9A_uc002zbx.2_Splice_Site_p.R106_splice|PDE9A_uc002zby.2_Splice_Site|PDE9A_uc002zbz.2_Splice_Site_p.R58_splice|PDE9A_uc002zca.2_Splice_Site_p.R125_splice|PDE9A_uc002zcb.2_Splice_Site_p.R140_splice|PDE9A_uc002zcc.2_Splice_Site_p.R65_splice|PDE9A_uc002zcd.2_Splice_Site_p.R80_splice|PDE9A_uc002zce.2_Splice_Site_p.R99_splice|PDE9A_uc002zcf.2_Splice_Site|PDE9A_uc002zcg.2_Splice_Site|PDE9A_uc002zch.2_Splice_Site NM_002606 NP_002597 O76083 PDE9A_HUMAN phosphodiesterase 9A isoform a platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|skin(1) 2 TTCATTCCTAGAGCATTCAAA 0.318 NA 13 36 0 0 0 0 NF2 4771 broad.mit.edu 37 22 30057252 30057252 + Missense_Mutation SNP A A G TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr22:30057252A>G uc003age.3 + 8 1177 c.734A>G c.(733-735)GAC>GGC p.D245G NF2_uc003afy.3_Missense_Mutation_p.D245G|NF2_uc003afz.3_Missense_Mutation_p.D162G|NF2_uc003agf.3_Missense_Mutation_p.D245G|NF2_uc003agb.3_Missense_Mutation_p.D168G|NF2_uc003agc.3_Missense_Mutation_p.D207G|NF2_uc003agd.3_RNA|NF2_uc003agg.3_Missense_Mutation_p.D245G|NF2_uc003aga.3_Missense_Mutation_p.D203G|NF2_uc003agh.3_Missense_Mutation_p.D204G|NF2_uc003agi.3_Missense_Mutation_p.D162G|NF2_uc003agj.3_Intron|NF2_uc003agk.3_Missense_Mutation_p.D207G NM_000268 NP_000259 P35240 MERL_HUMAN neurofibromin 2 isoform 1 245 FERM. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.D245fs*31(1)|p.N226_E270del(1)|p.L140_P252del(1)|p.?(1)|p.L127_D382del(1) meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1) 728 CACATTTATGACCCTGAGAAC 0.498 NA D|Mis|N|F|S|O meningioma|acoustic neuroma|renal meningioma|acoustic neuroma Neurofibromatosis_type_2 3 157 0 0 0 0 PTPN23 25930 broad.mit.edu 37 3 47450918 47450918 + Silent SNP G G A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr3:47450918G>A uc003crf.1 + 18 1905 c.1809G>A c.(1807-1809)GAG>GAA p.E603E PTPN23_uc011baw.1_Silent_p.E568E|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Silent_p.E473E NM_015466 NP_056281 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 603 Potential. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGTTGTTCGAGGAGCAGCTGA 0.622 NA 3 39 0 0 0 0 OR5H1 26341 broad.mit.edu 37 3 97852161 97852161 + Missense_Mutation SNP A A G TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr3:97852161A>G uc011bgt.1 + 1 620 c.620A>G c.(619-621)CAG>CGG p.Q207R NM_001005338 NP_001005338 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, 207 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 GGTTCAATTCAGGTATTCAGC 0.318 NA 3 83 0 0 0 0 TRH 7200 broad.mit.edu 37 3 129695840 129695840 + Silent SNP G G A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr3:129695840G>A uc003enc.2 + 3 1071 c.510G>A c.(508-510)GAG>GAA p.E170E NM_007117 NP_009048 P20396 TRH_HUMAN thyrotropin-releasing hormone 170 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity ovary(1) 1 Gggaagaagaggaggaggagg 0.547 NA 3 78 0 0 0 0 NCK1 4690 broad.mit.edu 37 3 136665013 136665013 + Missense_Mutation SNP C C T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr3:136665013C>T uc003erh.2 + 3 922 c.815C>T c.(814-816)TCA>TTA p.S272L NCK1_uc011bme.1_Missense_Mutation_p.S208L NM_006153 NP_006144 P16333 NCK1_HUMAN NCK adaptor protein 1 272 axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity pancreas(1) 1 ATTAGGCCTTCACTCACTGGA 0.413 NA 28 161 0 0 0 0 PACRGL 133015 broad.mit.edu 37 4 20706289 20706289 + Missense_Mutation SNP A A G TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr4:20706289A>G uc010iek.2 + 3 450 c.59A>G c.(58-60)TAT>TGT p.Y20C PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Missense_Mutation_p.Y68C|PACRGL_uc003gpz.2_Missense_Mutation_p.Y20C|PACRGL_uc011bxm.1_Missense_Mutation_p.Y20C|PACRGL_uc003gqa.2_Missense_Mutation_p.Y20C|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Missense_Mutation_p.Y20C|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Missense_Mutation_p.Y20C|PACRGL_uc003gpy.2_Missense_Mutation_p.Y20C NM_145048 NP_659485 Q8N7B6 PACRL_HUMAN PARK2 co-regulated-like isoform 1 20 binding 0 CCAGGTAACTATGATCAAAGG 0.403 NA 12 40 0 0 0 0 GNRHR 2798 broad.mit.edu 37 4 68606303 68606303 + Silent SNP A A T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr4:68606303A>T uc003hdn.2 - 3 2633 c.882T>A c.(880-882)CCT>CCA p.P294P LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_3'UTR|uc003hdo.1_5'Flank NM_000406 NP_000397 P30968 GNRHR_HUMAN gonadotropin-releasing hormone receptor isoform 294 Helical; Name=6; (Potential). multicellular organismal development integral to plasma membrane gonadotropin-releasing hormone receptor activity ovary(1) 1 Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666) TTAACATTTCAGGATCAAACC 0.393 NA 4 259 0 0 0 0 NDST4 64579 broad.mit.edu 37 4 115997541 115997541 + Missense_Mutation SNP C C T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr4:115997541C>T uc003ibu.2 - 2 1331 c.652G>A c.(652-654)GAA>AAA p.E218K NDST4_uc010imw.2_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 218 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) GTCCAGTCTTCCCCAGGAAGA 0.408 NA 19 62 0 0 0 0 TBC1D9 23158 broad.mit.edu 37 4 141591978 141591978 + Missense_Mutation SNP T T C TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr4:141591978T>C uc010ioj.2 - 7 1434 c.1162A>G c.(1162-1164)AGA>GGA p.R388G NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 388 intracellular calcium ion binding|Rab GTPase activator activity ovary(1) 1 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) AGAAAGTCTCTATCTTTCAAG 0.443 NA 49 117 0 0 0 0 C4orf41 60684 broad.mit.edu 37 4 184596347 184596347 + Missense_Mutation SNP G G A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr4:184596347G>A uc003ivx.2 + 7 867 c.691G>A c.(691-693)GCT>ACT p.A231T C4orf41_uc003ivw.2_Missense_Mutation_p.A231T|C4orf41_uc010isc.2_Intron NM_021942 NP_068761 Q7Z392 CD041_HUMAN hypothetical protein LOC60684 isoform a 231 0 all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171) GTTCAAAATAGCTTTCTTCAG 0.239 NA 5 40 0 0 0 0 CDH9 1007 broad.mit.edu 37 5 26915954 26915954 + Missense_Mutation SNP T T C TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr5:26915954T>C uc003jgs.1 - 3 476 c.307A>G c.(307-309)ATA>GTA p.I103V CDH9_uc010iug.2_Missense_Mutation_p.I103V NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 103 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 TTTTCATCTATAACAAATAGA 0.378 NA 95 152 0 0 0 0 CDH6 1004 broad.mit.edu 37 5 31302316 31302316 + Missense_Mutation SNP G G C TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr5:31302316G>C uc003jhe.1 + 6 1236 c.910G>C c.(910-912)GAG>CAG p.E304Q CDH6_uc003jhd.1_Missense_Mutation_p.E304Q NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 304 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 TGCTGAAATTGAGTACAGCAT 0.473 NA 11 105 0 0 0 0 GHR 2690 broad.mit.edu 37 5 42718796 42718796 + Missense_Mutation SNP A A G TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr5:42718796A>G uc003jmt.2 + 10 1230 c.1187A>G c.(1186-1188)GAG>GGG p.E396G GHR_uc011cpq.1_Missense_Mutation_p.E209G NM_000163 NP_000154 P10912 GHR_HUMAN growth hormone receptor precursor 396 Cytoplasmic (Potential). 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding lung(4)|kidney(1)|skin(1) 6 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GACATTCTGGAGACTGATTTC 0.478 NA 23 96 0 0 0 0 SKIV2L2 23517 broad.mit.edu 37 5 54662572 54662572 + Missense_Mutation SNP A A G TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr5:54662572A>G uc003jpy.3 + 16 1945 c.1679A>G c.(1678-1680)AAT>AGT p.N560S SKIV2L2_uc011cqi.1_Missense_Mutation_p.N459S NM_015360 NP_056175 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 560 Helicase C-terminal. maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(1)|skin(1) 2 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) GATCCTCTAAATAGTGCTTTC 0.338 NA 31 63 0 0 0 0 CMYA5 202333 broad.mit.edu 37 5 79032587 79032587 + Missense_Mutation SNP C C G TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr5:79032587C>G uc003kgc.2 + 2 8071 c.7999C>G c.(7999-8001)CCA>GCA p.P2667A NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2667 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CAGAGATATGCCAGATCACAG 0.403 NA 10 46 0 0 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202875 140202875 + Silent SNP T T C TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr5:140202875T>C uc003lhl.2 + 1 1515 c.1515T>C c.(1513-1515)AGT>AGC p.S505S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.S505S|PCDHA5_uc003lhj.1_Silent_p.S505S NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 505 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCTGTCGAGTTACGTTTCGG 0.682 NA 25 86 0 0 0 0 PCDHB12 56124 broad.mit.edu 37 5 140588971 140588971 + Silent SNP C C A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr5:140588971C>A uc003liz.2 + 1 681 c.492C>A c.(490-492)ATC>ATA p.I164I PCDHB12_uc011dak.1_Intron NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 164 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATGTAGGAATCAATGCTGTAA 0.388 NA 11 64 0.000673444 0.000734435 1 0 PCDHGA6 56109 broad.mit.edu 37 5 140755399 140755399 + Silent SNP G G A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr5:140755399G>A uc003ljy.1 + 1 1749 c.1749G>A c.(1747-1749)GAG>GAA p.E583E PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.E583E NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 583 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTCCGCAGAGCCCGGCTACC 0.657 NA 53 143 0 0 0 0 DOCK2 1794 broad.mit.edu 37 5 169506012 169506012 + Silent SNP G G A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr5:169506012G>A uc003maf.2 + 49 5108 c.5028G>A c.(5026-5028)CCG>CCA p.P1676P DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.P1168P|DOCK2_uc003mah.2_Silent_p.P232P NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1676 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCAAGACGCCGAGAGTGGAGC 0.547 NA 16 141 0 0 0 0 BAT2 7916 broad.mit.edu 37 6 31605291 31605291 + Silent SNP A A G TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr6:31605291A>G uc003nvb.3 + 31 6651 c.6402A>G c.(6400-6402)GAA>GAG p.E2134E BAT2_uc003nvc.3_Silent_p.E2134E NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 2134 cytoplasm|nucleus protein binding 0 CACCTCGAGAAGGGCCCTCCC 0.677 NA 28 100 0 0 0 0 TREML2 79865 broad.mit.edu 37 6 41166046 41166046 + Missense_Mutation SNP C C A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr6:41166046C>A uc010jxm.1 - 2 356 c.177G>T c.(175-177)AGG>AGT p.R59S NM_024807 NP_079083 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid 59 Ig-like V-type.|Extracellular (Potential). R -> K (in Ref. 3; BAB14668). T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0418)|Colorectal(47;0.196) ACTTCTTCTTCCTGATTTTGC 0.552 NA 47 148 6.31e-24 7.83e-24 1 0 OGFRL1 79627 broad.mit.edu 37 6 72003291 72003291 + Missense_Mutation SNP A A G TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr6:72003291A>G uc003pfx.1 + 3 540 c.377A>G c.(376-378)AAT>AGT p.N126S NM_024576 NP_078852 Q5TC84 OGRL1_HUMAN opioid growth factor receptor-like 1 126 membrane receptor activity 0 TTTTATAAGAATAAAATTCCA 0.299 NA 8 40 0 0 0 0 EEF1A1 1915 broad.mit.edu 37 6 74229664 74229664 + Missense_Mutation SNP T T C TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr6:74229664T>C uc003phi.2 - 1 123 c.86A>G c.(85-87)TAT>TGT p.Y29C EEF1A1_uc003phd.2_5'Flank|EEF1A1_uc003phe.2_Missense_Mutation_p.Y29C|EEF1A1_uc003phf.2_Missense_Mutation_p.Y29C|EEF1A1_uc003phg.2_Missense_Mutation_p.Y29C|EEF1A1_uc003phh.2_5'UTR|EEF1A1_uc003phj.2_Missense_Mutation_p.Y29C|EEF1A1_uc003phk.2_Missense_Mutation_p.Y29C|EEF1A1_uc003phl.2_Missense_Mutation_p.Y29C|EEF1A1_uc003phm.1_RNA NM_001402 NP_001393 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 29 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 ACCGCATTTATAGATCAGATG 0.418 NA 15 81 0 0 0 0 MED23 9439 broad.mit.edu 37 6 131926435 131926435 + Missense_Mutation SNP T T C TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr6:131926435T>C uc003qcs.1 - 14 1732 c.1558A>G c.(1558-1560)ATT>GTT p.I520V MED23_uc003qcq.2_Missense_Mutation_p.I526V|MED23_uc011eca.1_Missense_Mutation_p.I161V|MED23_uc003qct.1_Missense_Mutation_p.I526V|MED23_uc011ecb.1_Intron NM_004830 NP_004821 Q9ULK4 MED23_HUMAN mediator complex subunit 23 isoform a 520 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) AAGGGGGTAATAGATCCTGAA 0.393 NA 10 47 0 0 0 0 SBDS 51119 broad.mit.edu 37 7 66453484 66453484 + Silent SNP T T C TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr7:66453484T>C uc003tvm.1 - 5 811 c.627A>G c.(625-627)GTA>GTG p.V209V NM_016038 NP_057122 Q9Y3A5 SBDS_HUMAN Shwachman-Bodian-Diamond syndrome protein 209 bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing cytoplasm|nucleolus|nucleoplasm|spindle pole microtubule binding|ribosome binding|rRNA binding ovary(1) 1 CAATCAGACATACCTGAAACA 0.408 NA Gene Conversion AML|MDS Shwachman-Diamond_syndrome 12 47 0 0 0 0 COL1A2 1278 broad.mit.edu 37 7 94037520 94037520 + Missense_Mutation SNP G G T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr7:94037520G>T uc003ung.1 + 14 1136 c.665G>T c.(664-666)AGA>ATA p.R222I COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 222 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CCTGGTGAGAGAGGACGTGTT 0.408 NA HNSCC(75;0.22) 6 76 8.13e-05 9.18e-05 1 0 FBXO24 26261 broad.mit.edu 37 7 100198322 100198322 + Missense_Mutation SNP A A G TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr7:100198322A>G uc003uvm.1 + 10 1836 c.1543A>G c.(1543-1545)ATG>GTG p.M515V FBXO24_uc003uvn.1_Missense_Mutation_p.M153V|uc011kjy.1_Intron|FBXO24_uc011kjz.1_Missense_Mutation_p.M553V|FBXO24_uc011kka.1_Missense_Mutation_p.M503V|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.2_5'Flank|PCOLCE_uc010lhb.1_5'Flank NM_033506 NP_277041 O75426 FBX24_HUMAN F-box only protein 24 isoform 1 515 ubiquitin ligase complex ubiquitin-protein ligase activity ovary(3)|skin(1) 4 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CCCCGGGGGGATGGCCCAGGC 0.662 NA 3 56 0 0 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117450836 117450836 + Missense_Mutation SNP C C T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr7:117450836C>T uc003vjf.2 - 3 489 c.397G>A c.(397-399)GAG>AAG p.E133K NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 133 Potential. ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TGTCTGCTCTCAGCAGCAGCC 0.483 NA 39 266 0 0 0 0 AKR1B10 57016 broad.mit.edu 37 7 134221441 134221441 + Missense_Mutation SNP C C A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr7:134221441C>A uc003vrr.2 + 5 789 c.469C>A c.(469-471)CTT>ATT p.L157I NM_020299 NP_064695 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 157 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding skin(5) 5 GGTGAAAGCCCTTGGGGTCTC 0.488 NA 36 148 5.72e-15 7e-15 1 0 CNTNAP2 26047 broad.mit.edu 37 7 146829576 146829576 + Missense_Mutation SNP G G T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr7:146829576G>T uc003weu.1 + 8 1839 c.1323G>T c.(1321-1323)AAG>AAT p.K441N NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 441 Extracellular (Potential).|Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CACAGACCAAGATGAGCCAAA 0.413 NA HNSCC(39;0.1) 22 48 1.23e-08 1.43e-08 1 0 RUNX1T1 862 broad.mit.edu 37 8 93017495 93017496 + Missense_Mutation DNP GG GG CA TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr8:93017495_93017496GG>CA uc003yfd.2 - 5 672_673 c.588_589CC>TG c.(586-591)CTCCTC>CTTGTC p.L197V RUNX1T1_uc003yfc.1_Missense_Mutation_p.L170V|RUNX1T1_uc003yfe.1_Missense_Mutation_p.L160V|RUNX1T1_uc010mao.2_Missense_Mutation_p.L170V|RUNX1T1_uc011lgi.1_Missense_Mutation_p.L208V|RUNX1T1_uc003yfb.1_Missense_Mutation_p.L160V|RUNX1T1_uc003yff.1_Missense_Mutation_p.L160V NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 197 TAFH. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L159L(1) lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) GCGCAGTGGAGGAGCTCACGCT 0.554 NA 6 71 0 0 0 0 TTC35 9694 broad.mit.edu 37 8 109462150 109462150 + Missense_Mutation SNP A A G TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr8:109462150A>G uc003ymw.1 + 2 174 c.139A>G c.(139-141)AAG>GAG p.K47E NM_014673 NP_055488 Q15006 TTC35_HUMAN tetratricopeptide repeat domain 35 47 endoplasmic reticulum|nucleus binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(57;2.34e-10) ATATGCTTCTAAGCTGGGAGA 0.318 NA 26 171 0 0 0 0 MTBP 27085 broad.mit.edu 37 8 121468867 121468867 + Missense_Mutation SNP C C T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr8:121468867C>T uc003ypc.1 + 7 749 c.704C>T c.(703-705)TCA>TTA p.S235L MTBP_uc011lie.1_RNA NM_022045 NP_071328 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 235 cell cycle arrest skin(2)|ovary(1) 3 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) GTTATTGACTCAAAGGAATTA 0.313 NA 24 282 0 0 0 0 DMRT2 10655 broad.mit.edu 37 9 1057243 1057243 + Silent SNP T T C TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr9:1057243T>C uc003zha.2 + 4 1856 c.1656T>C c.(1654-1656)CCT>CCC p.P552P DMRT2_uc003zgx.3_Silent_p.P319P|DMRT2_uc010mgz.2_Silent_p.P319P|DMRT2_uc003zgy.3_Silent_p.P396P|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Silent_p.P552P NM_181872 NP_870987 Q9Y5R5 DMRT2_HUMAN doublesex and mab-3 related transcription factor 552 male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity 0 all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09) Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388) TTAAGAGGCCTTCATCTGCCA 0.393 NA 20 54 0 0 0 0 RC3H2 54542 broad.mit.edu 37 9 125618124 125618124 + Missense_Mutation SNP C C T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr9:125618124C>T uc010mwc.1 - 14 2729 c.2488G>A c.(2488-2490)GAA>AAA p.E830K RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.E830K|RC3H2_uc004bne.3_Missense_Mutation_p.E830K NM_001100588 NP_001094058 Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type zinc finger domains 2 830 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding ovary(2)|lung(2) 4 AGATGATCTTCTTCAAATTTT 0.343 NA 9 59 0 0 0 0 RC3H2 54542 broad.mit.edu 37 9 125621230 125621230 + Missense_Mutation SNP C C T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr9:125621230C>T uc010mwc.1 - 12 2242 c.2001G>A c.(1999-2001)ATG>ATA p.M667I RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.M667I|RC3H2_uc004bne.3_Missense_Mutation_p.M667I NM_001100588 NP_001094058 Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type zinc finger domains 2 667 Pro-rich. cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding ovary(2)|lung(2) 4 GAGAAGAATTCATTCGATCTC 0.522 NA 5 213 0 0 0 0 TTF1 7270 broad.mit.edu 37 9 135276927 135276927 + Missense_Mutation SNP T T C TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr9:135276927T>C uc004cbl.2 - 2 1334 c.1282A>G c.(1282-1284)ATG>GTG p.M428V TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase 428 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) TCTTCCATCATGGCGCCATCA 0.507 NA 66 78 0 0 0 0 BMX 660 broad.mit.edu 37 X 15567988 15567988 + Missense_Mutation SNP C C A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chrX:15567988C>A uc004cww.2 + 18 2009 c.1821C>A c.(1819-1821)AGC>AGA p.S607R BMX_uc004cwx.3_Missense_Mutation_p.S607R|BMX_uc004cwy.3_Missense_Mutation_p.S607R NM_203281 NP_975010 P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 607 Protein kinase. cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity lung(3)|ovary(2) 5 Hepatocellular(33;0.183) AGGTGTTCAGCCTGGGGAAGC 0.552 NA 4 197 0.00116845 0.00126948 1 0 FGD1 2245 broad.mit.edu 37 X 54496604 54496604 + Missense_Mutation SNP C C A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chrX:54496604C>A uc004dtg.2 - 4 1680 c.946G>T c.(946-948)GCC>TCC p.A316S FGD1_uc011moi.1_Missense_Mutation_p.A74S NM_004463 NP_004454 P98174 FGD1_HUMAN faciogenital dysplasia protein 316 Pro-rich. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|skin(2)|central_nervous_system(1) 6 CTAGCCAGGGCAGGGGGCCCA 0.557 NA 11 19 4.69e-08 5.44e-08 1 0 DIAPH2 1730 broad.mit.edu 37 X 96213115 96213115 + Nonsense_Mutation SNP G G T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chrX:96213115G>T uc004efu.3 + 16 2299 c.1903G>T c.(1903-1905)GAA>TAA p.E635* DIAPH2_uc004eft.3_Nonsense_Mutation_p.E635* NM_006729 NP_006720 O60879 DIAP2_HUMAN diaphanous 2 isoform 156 635 FH2. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding ovary(3)|lung(1) 4 GTATAAACCTGAAGTGTCCAT 0.398 NA 20 112 1.96e-10 2.32e-10 1 0 IL1RAPL2 26280 broad.mit.edu 37 X 104728331 104728332 + Missense_Mutation DNP CC CC AA TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chrX:104728331_104728332CC>AA uc004elz.1 + 6 1480_1481 c.724_725CC>AA c.(724-726)CCA>AAA p.P242K NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 242 Ig-like C2-type 3.|Extracellular (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 GCCTCCCAAGCCATTGTTCCCC 0.396 NA 21 102 0 0 0 0 GLUD2 2747 broad.mit.edu 37 X 120182678 120182678 + Silent SNP C C A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chrX:120182678C>A uc004eto.2 + 1 1217 c.1140C>A c.(1138-1140)ATC>ATA p.I380I NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 380 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) ACATACTGATCCCAGCTGCCA 0.507 NA 64 220 7.06e-25 8.79e-25 1 0 STAG2 10735 broad.mit.edu 37 X 123200245 123200245 + Missense_Mutation SNP C C A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chrX:123200245C>A uc004etz.3 + 22 2563 c.2224C>A c.(2224-2226)CTT>ATT p.L742I STAG2_uc004eua.2_Missense_Mutation_p.L742I|STAG2_uc004eub.2_Missense_Mutation_p.L742I|STAG2_uc004euc.2_Missense_Mutation_p.L742I|STAG2_uc004eud.2_Missense_Mutation_p.L742I|STAG2_uc004eue.2_Missense_Mutation_p.L742I NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 742 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 CTATGTAATCCTTTGGCAACT 0.328 NA 13 110 1.57e-10 1.86e-10 1 0 HCFC1 3054 broad.mit.edu 37 X 153223611 153223611 + Silent SNP A A T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chrX:153223611A>T uc004fjp.2 - 11 2421 c.1893T>A c.(1891-1893)CCT>CCA p.P631P NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 631 Interaction with SIN3A. cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTGTGATGATAGGGCGGGTAG 0.622 NA 18 67 0 0 0 0 CYP4A22 284541 broad.mit.edu 37 1 47609524 47609535 + In_Frame_Del DEL CTACAGCCTGAC CTACAGCCTGAC - TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr1:47609524_47609535delCTACAGCCTGAC uc001cqv.1 + 6 777_788 c.726_737delCTACAGCCTGAC c.(724-738)ATCTACAGCCTGACC>ATC p.YSLT243del CYP4A22_uc009vyo.2_In_Frame_Del_p.YSLT243del|CYP4A22_uc009vyp.2_Intron NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, 243_246 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding skin(2)|ovary(1)|breast(1) 4 ATGACACCATCTACAGCCTGACCTCTGCTGGC 0.542 NA 7 145 --- --- --- --- NA NA NA NA NOTCH2 4853 broad.mit.edu 37 1 120502074 120502074 + Frame_Shift_Del DEL T T - TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr1:120502074delT uc001eik.2 - 12 2223 c.1967delA c.(1966-1968)CATfs p.H656fs NOTCH2_uc001eil.2_Frame_Shift_Del_p.H656fs|NOTCH2_uc001eim.3_Frame_Shift_Del_p.H573fs NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 656 Extracellular (Potential).|EGF-like 17; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGATTCCATGGATACAAGG 0.428 NA N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 15 74 --- --- --- --- NA NA NA NA OR56A1 120796 broad.mit.edu 37 11 6048343 6048344 + Frame_Shift_Ins INS - - A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr11:6048343_6048344insA uc010qzw.1 - 1 591_592 c.591_592insT c.(589-594)GATAATfs p.D197fs NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, 197_198 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGGTGAAATTATCACAGGAGA 0.46 NA 12 110 --- --- --- --- NA NA NA NA MAP2K4 6416 broad.mit.edu 37 17 12016562 12016575 + Frame_Shift_Del DEL CCAATATTCTTCTG CCAATATTCTTCTG - TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr17:12016562_12016575delCCAATATTCTTCTG uc002gnj.2 + 7 767_780 c.698_711delCCAATATTCTTCTG c.(697-711)TCCAATATTCTTCTGfs p.S233fs MAP2K4_uc002gnk.2_Frame_Shift_Del_p.S244fs|MAP2K4_uc010vvi.1_Frame_Shift_Del_p.S115fs|MAP2K4_uc010vvj.1_Frame_Shift_Del_p.S105fs NM_003010 NP_003001 P45985 MP2K4_HUMAN mitogen-activated protein kinase kinase 4 233_237 Protein kinase. cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.N234I(1)|p.?(1) large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1) 58 all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163) Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681) ATCAAACCTTCCAATATTCTTCTGGACAGAAGTG 0.388 NA D|Mis|N pancreatic|breast|colorectal 15 56 --- --- --- --- NA NA NA NA ZNF433 163059 broad.mit.edu 37 19 12126445 12126446 + Frame_Shift_Ins INS - - A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr19:12126445_12126446insA uc002msy.1 - 4 1407_1408 c.1236_1237insT c.(1234-1239)CATGAAfs p.H412fs uc002msx.1_Intron|ZNF433_uc002msz.1_Frame_Shift_Ins_p.H377fs NM_001080411 NP_001073880 Q8N7K0 ZN433_HUMAN zinc finger protein 433 412_413 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGAGTTCTTTCATGATATCGGA 0.431 NA 44 92 --- --- --- --- NA NA NA NA TCF7 6932 broad.mit.edu 37 5 133477960 133477961 + Frame_Shift_Ins INS - - GG TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr5:133477960_133477961insGG uc003kyt.2 + 6 916_917 c.720_721insGG c.(718-723)TCAGGGfs p.S240fs TCF7_uc003kyu.1_Frame_Shift_Ins_p.S125fs|TCF7_uc003kyv.2_Frame_Shift_Ins_p.S125fs|TCF7_uc003kyw.2_Frame_Shift_Ins_p.S125fs|TCF7_uc003kyx.2_Frame_Shift_Ins_p.S38fs|TCF7_uc003kyy.2_Frame_Shift_Ins_p.S125fs|TCF7_uc003kyz.2_Frame_Shift_Ins_p.S125fs|TCF7_uc003kza.2_Frame_Shift_Ins_p.S125fs|TCF7_uc003kzb.2_Frame_Shift_Ins_p.S54fs|TCF7_uc010jdu.2_5'Flank NM_003202 NP_003193 P36402 TCF7_HUMAN transcription factor 7 (T-cell specific, 240_241 cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription regulatory region DNA binding 0 Breast(839;0.058) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGCCCCCCTCAGGGAAGCAGGA 0.604 NA 8 81 --- --- --- --- NA NA NA NA BAT3 7917 broad.mit.edu 37 6 31610753 31610754 + Frame_Shift_Ins INS - - A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr6:31610753_31610754insA uc003nvg.3 - 14 2119_2120 c.1805_1806insT c.(1804-1806)ATGfs p.M602fs BAT3_uc003nvf.3_Frame_Shift_Ins_p.M596fs|BAT3_uc003nvh.3_Frame_Shift_Ins_p.M596fs|BAT3_uc003nvi.3_Frame_Shift_Ins_p.M596fs|BAT3_uc011dnw.1_Frame_Shift_Ins_p.M596fs|BAT3_uc011dnx.1_Intron NM_004639 NP_004630 P46379 BAG6_HUMAN HLA-B associated transcript-3 isoform a 602 3.|4 X 29 AA approximate repeats.|Pro-rich. apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding 0 GAAGATCAGCCATGGAGGGTTG 0.653 NA 12 18 --- --- --- --- NA NA NA NA GNB2 2783 broad.mit.edu 37 7 100276221 100276224 + Frame_Shift_Del DEL GAAG GAAG - TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr7:100276221_100276224delGAAG uc003uwb.2 + 9 1173_1176 c.900_903delGAAG c.(898-903)ATGAAGfs p.M300fs GNB2_uc003uwc.2_Frame_Shift_Del_p.M256fs|GNB2_uc010lhd.2_Frame_Shift_Del_p.M256fs|GNB2_uc010lhe.2_Frame_Shift_Del_p.M256fs|GNB2_uc003uwd.2_Frame_Shift_Del_p.M200fs|GNB2_uc010lhf.2_Frame_Shift_Del_p.M200fs|GNB2_uc003uwe.2_Frame_Shift_Del_p.M300fs|GNB2_uc003uwf.2_Frame_Shift_Del_p.M200fs NM_005273 NP_005264 P62879 GBB2_HUMAN guanine nucleotide-binding protein, beta-2 300_301 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission perinuclear region of cytoplasm|plasma membrane GTPase activity|GTPase binding|signal transducer activity ovary(2) 2 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) Ovarian(593;0.238) GGGATGCCATGAAGGGCGACCGTG 0.608 NA 20 71 --- --- --- --- NA NA NA NA PAXIP1 22976 broad.mit.edu 37 7 154738224 154738225 + Frame_Shift_Ins INS - - T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chr7:154738224_154738225insT uc003wlp.2 - 19 3173_3174 c.3130_3131insA c.(3130-3132)ATAfs p.I1044fs LOC100132707_uc011kvr.1_Intron|LOC100132707_uc003wlo.2_Intron|PAXIP1_uc003wlq.1_Frame_Shift_Ins_p.I1010fs|PAXIP1_uc011kvs.1_Frame_Shift_Ins_p.I1008fs NM_007349 NP_031375 Q6ZW49 PAXI1_HUMAN PAX interacting protein 1 1044 Interaction with TP53BP1.|BRCT 6. DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent histone methyltransferase complex|nuclear matrix lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) AAACGTACCTATGCCTCTGGCA 0.406 NA 27 76 --- --- --- --- NA NA NA NA ATP11C 286410 broad.mit.edu 37 X 138820082 138820084 + In_Frame_Del DEL CTT CTT - TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2fdd3f42-cb2f-4faf-8a47-b8bfee058265 7a53ffac-dad3-4e36-b077-c29fc66c6a42 g.chrX:138820082_138820084delCTT uc004faz.2 - 28 3387_3389 c.3288_3290delAAG c.(3286-3291)AGAAGT>AGT p.R1096del ATP11C_uc004fax.2_In_Frame_Del_p.R304del|ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_In_Frame_Del_p.R1096del NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 1096 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) TACCCTGGCACTTCTTCTTCTTA 0.355 NA 15 149 --- --- --- --- NA NA NA NA