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 ACHILLES_Top_Genes 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 pox_cutoff isArtifactMode oxoGCut CALML6 163688 broad.mit.edu 37 1 1848605 1848605 + Silent SNP G G A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr1:1848605G>A uc001aih.1 + 6 973 c.519G>A c.(517-519)ACG>ACA p.T173T NM_138705 NP_619650 Q8TD86 CALL6_HUMAN calmodulin-like 6 173 EF-hand 4. cytoplasm|nucleus calcium ion binding 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) CCATGATGACGGGGGAGTCCT 0.692 NA 7 54 0 0 0.038147 0 0 SPSB1 80176 broad.mit.edu 37 1 9416188 9416188 + Missense_Mutation SNP G G T TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr1:9416188G>T uc010oae.1 + 2 577 c.238G>T c.(238-240)GTG>TTG p.V80L SPSB1_uc001apv.2_Missense_Mutation_p.V80L NM_025106 NP_079382 Q96BD6 SPSB1_HUMAN splA/ryanodine receptor domain and SOCS box 80 B30.2/SPRY. intracellular signal transduction cytoplasm 0 all_lung(157;0.194) all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419) CCGGCATCCGGTGGCCCAGAG 0.582 NA 75 437 5.02462e-34 7.0829e-34 0.139131 1 0 PRAMEF2 65122 broad.mit.edu 37 1 12919660 12919660 + Missense_Mutation SNP A A G TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr1:12919660A>G uc001aum.1 + 3 487 c.400A>G c.(400-402)ACA>GCA p.T134A NM_023014 NP_075390 O60811 PRAM2_HUMAN PRAME family member 2 134 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TAAGAGGCAGACAGCAGAGGA 0.542 NA 8 585 0 0 0.047766 0 0 INSL5 10022 broad.mit.edu 37 1 67263829 67263829 + Missense_Mutation SNP C C T rs137866143 by1000genomes TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr1:67263829C>T uc001dcw.2 - 2 310 c.275G>A c.(274-276)CGT>CAT p.R92H NM_005478 NP_005469 Q9Y5Q6 INSL5_HUMAN insulin-like 5 precursor 92 extracellular region hormone activity 0 ACCCCAAAGACGGTCTTCCCC 0.483 NA 23 298 0 0 0.083992 0 0 WNT2B 7482 broad.mit.edu 37 1 113057555 113057555 + Missense_Mutation SNP G G A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr1:113057555G>A uc001ecb.2 + 2 757 c.242G>A c.(241-243)CGG>CAG p.R81Q WNT2B_uc001eca.2_Missense_Mutation_p.R62Q|WNT2B_uc009wgg.2_5'UTR NM_024494 NP_078613 Q93097 WNT2B_HUMAN wingless-type MMTV integration site family, 81 chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding|signal transducer activity ovary(2)|breast(2)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTGGTGAGCCGGCAGCGGCAG 0.592 NA 50 276 0 0 0.139131 0 0 SELE 6401 broad.mit.edu 37 1 169698730 169698730 + Missense_Mutation SNP G G C TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr1:169698730G>C uc001ggm.3 - 6 957 c.800C>G c.(799-801)ACC>AGC p.T267S C1orf112_uc001ggj.2_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN selectin E precursor 267 Sushi 2.|Extracellular (Potential). actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity ovary(3)|skin(2) 5 all_hematologic(923;0.208) AAATGTACAGGTTGTGTTCCA 0.458 NA 54 332 0 0 0.139131 0 0 ASTN1 460 broad.mit.edu 37 1 176857225 176857225 + Missense_Mutation SNP G G A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr1:176857225G>A uc001glc.2 - 18 3268 c.3056C>T c.(3055-3057)GCG>GTG p.A1019V ASTN1_uc001glb.1_Missense_Mutation_p.A1019V|ASTN1_uc001gld.1_Missense_Mutation_p.A1019V NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 1027 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 TGGGAGAGGCGCACAGGTGGG 0.418 NA 9 220 0 0 0.058154 0 0 KIF21B 23046 broad.mit.edu 37 1 200965516 200965516 + Missense_Mutation SNP C C A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr1:200965516C>A uc001gvs.1 - 15 2402 c.2085G>T c.(2083-2085)ATG>ATT p.M695I KIF21B_uc001gvr.1_Missense_Mutation_p.M695I|KIF21B_uc009wzl.1_Missense_Mutation_p.M695I|KIF21B_uc010ppn.1_Missense_Mutation_p.M695I NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 695 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 TATAGCACTCCATGGTGCCTG 0.562 NA 71 345 4.83814e-26 6.65955e-26 0.139131 1 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + Missense_Mutation SNP A A G rs2257765 TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr10:38654432A>G uc010qex.1 + 5 599 c.524A>G c.(523-525)AAT>AGT p.N175S HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270); 0 TCATCTCGCAATGCAAGGAAA 0.453 NA 5 176 0 0 0.014758 0 0 BMS1 9790 broad.mit.edu 37 10 43318597 43318597 + Missense_Mutation SNP A A G TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr10:43318597A>G uc001jaj.2 + 20 3522 c.3164A>G c.(3163-3165)AAA>AGA p.K1055R NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 1055 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 GAAGTGGCCAAATTTGAAGGT 0.428 NA 5 275 0 0 0.021553 0 0 DCLRE1A 9937 broad.mit.edu 37 10 115609461 115609461 + Missense_Mutation SNP G G T TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr10:115609461G>T uc001law.2 - 2 2321 c.1403C>A c.(1402-1404)CCT>CAT p.P468H NM_014881 NP_055696 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 468 Nuclear focus formation. cell division|mitosis nucleus hydrolase activity skin(2) 2 Epithelial(162;0.0157)|all cancers(201;0.0171) ACTTTCAAAAGGTTTCAACAT 0.318 NA Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 33 179 1.22384e-17 1.62714e-17 0.054565 1 0 MPEG1 219972 broad.mit.edu 37 11 58979414 58979414 + Missense_Mutation SNP G G C TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr11:58979414G>C uc001nnu.3 - 1 1081 c.925C>G c.(925-927)CCG>GCG p.P309A NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN macrophage expressed gene 1 precursor 309 MACPF.|Extracellular (Potential). integral to membrane ovary(1)|skin(1) 2 all_epithelial(135;0.125) AAATGCAGCGGCAGGCCAGAG 0.567 NA 15 90 0 0 0.11911 0 0 MPEG1 219972 broad.mit.edu 37 11 58979536 58979536 + Nonsense_Mutation SNP G G T TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr11:58979536G>T uc001nnu.3 - 1 959 c.803C>A c.(802-804)TCA>TAA p.S268* NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN macrophage expressed gene 1 precursor 268 MACPF.|Extracellular (Potential). integral to membrane ovary(1)|skin(1) 2 all_epithelial(135;0.125) GGTTCGGTTTGAGAGGTAGCT 0.537 NA 8 57 0.000157383 0.000187896 0.038147 1 0 MS4A14 84689 broad.mit.edu 37 11 60183610 60183610 + Missense_Mutation SNP C C A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr11:60183610C>A uc001npj.2 + 5 1734 c.1169C>A c.(1168-1170)ACA>AAA p.T390K MS4A14_uc001npi.2_Missense_Mutation_p.T278K|MS4A14_uc001npn.2_Missense_Mutation_p.T128K|MS4A14_uc001npk.2_Missense_Mutation_p.T373K|MS4A14_uc001npl.2_Missense_Mutation_p.T128K|MS4A14_uc001npm.2_Missense_Mutation_p.T128K NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 390 integral to membrane receptor activity breast(1) 1 tctcaagacacaccatcccac 0.08 NA 8 51 0.00307968 0.00363962 0.038147 1 0 SLC29A2 3177 broad.mit.edu 37 11 66130941 66130941 + Missense_Mutation SNP G G A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr11:66130941G>A uc001oht.2 - 12 1566 c.1337C>T c.(1336-1338)GCC>GTC p.A446V SLC29A2_uc001ohs.2_Missense_Mutation_p.A326V|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Missense_Mutation_p.A326V|SLC29A2_uc001ohu.2_Missense_Mutation_p.A446V|SLC29A2_uc001ohv.2_3'UTR NM_001532 NP_001523 Q14542 S29A2_HUMAN solute carrier family 29 (nucleoside 446 Helical; (Potential). cell proliferation|nucleobase, nucleoside and nucleotide metabolic process basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus nucleoside transmembrane transporter activity ovary(1) 1 GGAGAGGGAGGCTCCACAGGA 0.637 NA 15 81 0 0 0.038395 0 0 IQSEC3 440073 broad.mit.edu 37 12 247991 247991 + Missense_Mutation SNP G G A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr12:247991G>A uc001qhw.1 + 1 559 c.553G>A c.(553-555)GTC>ATC p.V185I IQSEC3_uc001qhu.1_Missense_Mutation_p.V185I|IQSEC3_uc001qht.1_Missense_Mutation_p.V270I|uc001qhv.1_Intron NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 488 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) TTTCCGGGACGTCACGGTGCA 0.577 NA 21 52 0 0 0.076483 0 0 MLL2 8085 broad.mit.edu 37 12 49446807 49446807 + Missense_Mutation SNP G G A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr12:49446807G>A uc001rta.3 - 8 1003 c.1003C>T c.(1003-1005)CCC>TCC p.P335S NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 335 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 TCCGAGTTGGGATTCAGTTCT 0.582 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 7 347 0 0 0.02938 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54910732 54910732 + Silent SNP C C T TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr12:54910732C>T uc001sgc.3 + 11 1130 c.1051C>T c.(1051-1053)CTG>TTG p.L351L NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Silent_p.L301L NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 351 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 AGTGAAGGAGCTGGAGACTGT 0.502 NA 27 299 0 0 0.144211 0 0 NBEA 26960 broad.mit.edu 37 13 35517094 35517094 + Missense_Mutation SNP G G T TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr13:35517094G>T uc001uvb.2 + 2 343 c.137G>T c.(136-138)AGG>ATG p.R46M NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 46 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GGGGAGCTAAGGGGGGCGTCC 0.498 NA 17 63 1.15088e-07 1.4174e-07 0.146539 1 0 RB1 5925 broad.mit.edu 37 13 48937094 48937094 + Splice_Site SNP G G A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr13:48937094G>A uc001vcb.2 + 8 1027 c.861_splice c.e8+1 p.E287_splice RB1_uc010act.1_Intron NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(5) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TATAGATGAGGTAATTTAACT 0.303 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 10 98 0 0 0.069234 0 0 PCNX 22990 broad.mit.edu 37 14 71500221 71500221 + Missense_Mutation SNP C C T TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr14:71500221C>T uc001xmo.2 + 17 4080 c.3634C>T c.(3634-3636)CTC>TTC p.L1212F PCNX_uc010are.1_Missense_Mutation_p.L1101F|PCNX_uc010arf.1_Missense_Mutation_p.L72F NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1212 Helical; (Potential). integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GTCTTACCATCTCAGCCGACA 0.348 NA 5 146 0 0 0.014758 0 0 ARHGAP11B 89839 broad.mit.edu 37 15 30938316 30938316 + Splice_Site SNP G G A rs112615235 by1000genomes TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr15:30938316G>A uc010azv.1 + 11 c.1127_splice c.e11-1 ARHGAP11B_uc001zeu.2_Splice_Site Q3KRB8 RHGBB_HUMAN Homo sapiens cDNA, FLJ17072. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 all_lung(180;2.71e-09)|Breast(32;0.00116) all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153) TTCCTTGGCAGTGGATAAGTT 0.393 NA 5 82 0 0 0.021553 0 0 ARID3B 10620 broad.mit.edu 37 15 74836319 74836319 + Silent SNP A A G TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr15:74836319A>G uc002aye.2 + 2 243 c.42A>G c.(40-42)CAA>CAG p.Q14Q ARID3B_uc002ayc.2_Silent_p.Q14Q|ARID3B_uc002ayd.2_Silent_p.Q14Q NM_006465 NP_006456 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B 14 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 agcagcaacaacagaagcagc 0.443 NA 3 78 0 0 0.02938 0 0 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + Missense_Mutation SNP G G A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr15:102515299G>A uc002cdi.2 + 9 1943 c.523G>A c.(523-525)GGC>AGC p.G175S WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA NR_003659 RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2; 0 TGGGGGCATCGGCAAGGCCAA 0.652 NA 6 97 0 0 0.038147 0 0 MEFV 4210 broad.mit.edu 37 16 3304702 3304702 + Silent SNP G G A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr16:3304702G>A uc002cun.1 - 2 406 c.366C>T c.(364-366)GAC>GAT p.D122D NM_000243 NP_000234 O15553 MEFV_HUMAN Mediterranean fever protein 122 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|lung(1) 6 Colchicine(DB01394) CCTCGGGGTGGTCTGGAGTCT 0.657 NA 31 121 0 0 0.045705 0 0 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A rs28934574 TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr17:7577094G>A uc002gim.2 - 8 1038 c.844C>T c.(844-846)CGG>TGG p.R282W TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 282 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; 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.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(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) TCTGTGCGCCGGTCTCTCCCA 0.557 Pancreas(47;798 1329 9957 10801) 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-Fraumensyndrome|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) 18 105 0 0 0.038395 0 0 KCNG2 26251 broad.mit.edu 37 18 77659126 77659126 + Silent SNP C C A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr18:77659126C>A uc010xfl.1 + 2 711 c.711C>A c.(709-711)TCC>TCA p.S237S NM_012283 NP_036415 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, 237 Helical; Name=Segment S2; (Potential). energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) TGCTGCGCTCCCTGCAGGCCG 0.667 NA 18 87 6.94344e-10 8.92728e-10 0.038395 1 0 ATP8B3 148229 broad.mit.edu 37 19 1800400 1800400 + Missense_Mutation SNP C C T TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr19:1800400C>T uc002ltw.2 - 13 1435 c.1201G>A c.(1201-1203)GGT>AGT p.G401S ATP8B3_uc002ltv.2_Missense_Mutation_p.G354S|ATP8B3_uc002ltx.2_RNA|ATP8B3_uc002lty.1_Missense_Mutation_p.G149S|ATP8B3_uc002ltz.1_Missense_Mutation_p.G348S NM_138813 NP_620168 O60423 AT8B3_HUMAN ATPase, class I, type 8B, member 3 401 Helical; (Potential). ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity 0 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) ACTGAGAAACCGAAGCCGAAG 0.597 NA 40 225 0 0 0.124865 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8660968 8660968 + Silent SNP G G A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr19:8660968G>A uc002mkj.1 - 11 1600 c.1326C>T c.(1324-1326)ACC>ACT p.T442T ADAMTS10_uc002mkk.1_Silent_p.T74T NM_030957 NP_112219 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 442 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding pancreas(2)|skin(2) 4 CTAGAAAGCTGGTGATGTAGT 0.587 NA 48 243 0 0 0.139131 0 0 ZNF175 7728 broad.mit.edu 37 19 52090627 52090627 + Nonsense_Mutation SNP C C A rs150573174 TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr19:52090627C>A uc002pxb.2 + 5 1421 c.1043C>A c.(1042-1044)TCA>TAA p.S348* NM_007147 NP_009078 Q9Y473 ZN175_HUMAN zinc finger protein 175 348 C2H2-type 3. response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) ATTCAGAGATCAGAATTGCTT 0.403 NA 44 222 5.20837e-25 7.00436e-25 0.104719 1 0 TMEM150B 284417 broad.mit.edu 37 19 55831513 55831513 + Missense_Mutation SNP C C A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr19:55831513C>A uc010esw.1 - 6 391 c.218G>T c.(217-219)CGT>CTT p.R73L TMEM150B_uc010yfu.1_Missense_Mutation_p.R73L|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA|TMEM150B_uc002qki.2_Missense_Mutation_p.R73L NM_001085488 NP_001078957 A6NC51 T150B_HUMAN transmembrane protein 150B precursor 73 Cytoplasmic (Potential). integral to membrane 0 CTGGTGGTAACGGACAATGCA 0.622 NA 55 338 1.85257e-25 2.52036e-25 0.139131 1 0 GALP 85569 broad.mit.edu 37 19 56693610 56693610 + Nonsense_Mutation SNP G G A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr19:56693610G>A uc002qmo.1 + 4 288 c.206G>A c.(205-207)TGG>TAG p.W69* GALP_uc010eti.2_3'UTR NM_033106 NP_149097 Q9UBC7 GALP_HUMAN galanin-like peptide isoform 1 precursor 69 neuropeptide signaling pathway extracellular region hormone activity 0 Colorectal(82;0.000147)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0507) CTAGACCTGTGGAAGGCCATC 0.502 NA 14 108 0 0 0.043863 0 0 FAM179A 165186 broad.mit.edu 37 2 29225560 29225560 + Missense_Mutation SNP G G T TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr2:29225560G>T uc010ezl.2 + 5 937 c.586G>T c.(586-588)GAC>TAC p.D196Y FAM179A_uc010ymm.1_Missense_Mutation_p.D196Y NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN hypothetical protein LOC165186 196 binding ovary(3)|skin(1) 4 GAAGGGCCTGGACCTACCGGG 0.622 NA 19 93 1.56452e-12 2.05673e-12 0.043863 1 0 MYEOV2 150678 broad.mit.edu 37 2 241066016 241066016 + Silent SNP C C T TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr2:241066016C>T uc002vyu.1 - 5 723 c.723G>A c.(721-723)GGG>GGA p.G241G NM_138336 NP_612209 Q8WXC6 MYOV2_HUMAN hypothetical protein LOC150678 isoform 1 Error:Variant_position_missing_in_Q8WXC6_after_alignment 0 all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143) TGGTCTTCTTCCCTTCTTCTC 0.438 NA 42 232 0 0 0.11126 0 0 INSM1 3642 broad.mit.edu 37 20 20349683 20349683 + Missense_Mutation SNP G G A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr20:20349683G>A uc002wrx.2 + 1 919 c.772G>A c.(772-774)GGG>AGG p.G258R NM_002196 NP_002187 Q01101 INSM1_HUMAN insulinoma-associated 1 258 endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0649) gggccgcgcggggggcgcggc 0.527 NA 8 37 0 0 0.038147 0 0 FRG1B 284802 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr20:29625875T>C uc010ztl.1 + 2 61 c.29T>C c.(28-30)ATC>ACC p.I10T FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 ATGTACAGAATCGCCCTGAAA 0.353 NA 9 164 0 0 0.11911 0 0 TRPM2 7226 broad.mit.edu 37 21 45861686 45861686 + Missense_Mutation SNP G G A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr21:45861686G>A uc002zet.1 + 33 4711 c.4498G>A c.(4498-4500)GGG>AGG p.G1500R TRPM2_uc002zeu.1_Missense_Mutation_p.G1500R|TRPM2_uc002zew.1_Missense_Mutation_p.G1500R|TRPM2_uc010gpt.1_Missense_Mutation_p.G1550R|TRPM2_uc002zex.1_Missense_Mutation_p.G1286R|TRPM2_uc002zey.1_Missense_Mutation_p.G979R|TRPM2_uc011aff.1_Missense_Mutation_p.G181R NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 1500 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 CGCTGAGTTCGGGGCTCACTA 0.637 NA 56 106 0 0 0.139131 0 0 IL17RD 54756 broad.mit.edu 37 3 57132270 57132270 + Silent SNP G G A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr3:57132270G>A uc003dil.2 - 12 1550 c.1461C>T c.(1459-1461)GAC>GAT p.D487D IL17RD_uc003dik.2_Silent_p.D463D|IL17RD_uc010hna.2_Silent_p.D343D|IL17RD_uc011bex.1_Silent_p.D343D NM_017563 NP_060033 Q8NFM7 I17RD_HUMAN interleukin 17 receptor D precursor 487 SEFIR.|Cytoplasmic (Potential). Golgi membrane|integral to membrane|plasma membrane receptor activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) TACCGGGGACGTCTCCCTCGC 0.567 NA 7 82 0 0 0.02938 0 0 EIF4G1 1981 broad.mit.edu 37 3 184049748 184049748 + Nonsense_Mutation SNP C C T TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr3:184049748C>T uc003fnp.2 + 32 4690 c.4492C>T c.(4492-4494)CGA>TGA p.R1498* EIF4G1_uc003fnt.2_Nonsense_Mutation_p.R1209*|EIF4G1_uc003fnq.2_Nonsense_Mutation_p.R1411*|EIF4G1_uc003fnr.2_Nonsense_Mutation_p.R1334*|EIF4G1_uc010hxx.2_Nonsense_Mutation_p.R1505*|EIF4G1_uc003fns.2_Nonsense_Mutation_p.R1458*|EIF4G1_uc010hxy.2_Nonsense_Mutation_p.R1505*|EIF4G1_uc003fnv.3_Nonsense_Mutation_p.R1499*|EIF4G1_uc003fnu.3_Nonsense_Mutation_p.R1498*|EIF4G1_uc003fnw.2_Nonsense_Mutation_p.R1505*|EIF4G1_uc003fnx.2_Nonsense_Mutation_p.R1303*|EIF4G1_uc003fny.3_Nonsense_Mutation_p.R1302*|EIF4G1_uc003foa.2_Nonsense_Mutation_p.R170* NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 1498 W2.|EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GACTCCCCTCCGAGTGGACGT 0.582 NA 10 235 0 0 0.058154 0 0 MFSD8 256471 broad.mit.edu 37 4 128861025 128861025 + Silent SNP C C T TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr4:128861025C>T uc003ifp.2 - 7 844 c.681G>A c.(679-681)CTG>CTA p.L227L MFSD8_uc011cgu.1_Silent_p.L182L|MFSD8_uc011cgv.1_Silent_p.L189L|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_Intron NM_152778 NP_689991 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 227 Helical; (Potential). cell death|transmembrane transport integral to membrane|lysosomal membrane ovary(1)|liver(1) 2 TGGCAAGGATCAGAATAATAT 0.308 NA 19 171 0 0 0.069288 0 0 TRIO 7204 broad.mit.edu 37 5 14482836 14482836 + Missense_Mutation SNP A A G rs141648983 TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr5:14482836A>G uc003jff.2 + 46 6617 c.6611A>G c.(6610-6612)AAG>AGG p.K2204R TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.K1853R NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2204 PH 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) CTTGATAAAAAGAAGGGCTTC 0.498 NA 6 328 0 0 0.021553 0 0 FAT2 2196 broad.mit.edu 37 5 150922824 150922824 + Missense_Mutation SNP A A G TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr5:150922824A>G uc003lue.3 - 9 7877 c.7864T>C c.(7864-7866)TAC>CAC p.Y2622H GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 2622 Cadherin 23.|Extracellular (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCACTGAGTAGGTGACATCT 0.453 NA 87 457 0 0 0.139131 0 0 DSP 1832 broad.mit.edu 37 6 7581318 7581318 + Missense_Mutation SNP A A T TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr6:7581318A>T uc003mxp.1 + 23 5174 c.4895A>T c.(4894-4896)GAC>GTC p.D1632V DSP_uc003mxq.1_Intron NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 1632 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AGTGAGGATGACCTCCGGCAG 0.582 NA 20 229 0 0 0.049695 0 0 BTBD9 114781 broad.mit.edu 37 6 38224278 38224278 + Missense_Mutation SNP T T C TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr6:38224278T>C uc003ooa.3 - 10 2045 c.1469A>G c.(1468-1470)GAT>GGT p.D490G BTBD9_uc003ony.3_Missense_Mutation_p.D422G|BTBD9_uc010jwv.2_Missense_Mutation_p.D451G|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.D490G NM_052893 NP_443125 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 isoform a 490 cell adhesion 0 ATCATCACAATCCCAAAGTAG 0.423 NA 31 138 0 0 0.059317 0 0 LRFN2 57497 broad.mit.edu 37 6 40359735 40359735 + Missense_Mutation SNP C C A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr6:40359735C>A uc003oph.1 - 3 2782 c.2317G>T c.(2317-2319)GGG>TGG p.G773W NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 773 Cytoplasmic (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) CCCCGGGCCCCCACCAGGTCA 0.632 NA 33 175 9.93527e-08 1.23662e-07 0.054565 1 0 DST 667 broad.mit.edu 37 6 56362211 56362211 + Missense_Mutation SNP G G A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr6:56362211G>A uc003pdf.2 - 76 13860 c.13832C>T c.(13831-13833)CCG>CTG p.P4611L DST_uc003pcz.3_Missense_Mutation_p.P4433L|DST_uc011dxj.1_Missense_Mutation_p.P4462L|DST_uc011dxk.1_Missense_Mutation_p.P4473L|DST_uc003pcy.3_Missense_Mutation_p.P4107L NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 6519 Spectrin 16. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GGCTGTTTCCGGTAAACCTCC 0.483 NA 8 322 0 0 0.047766 0 0 DST 667 broad.mit.edu 37 6 56438682 56438682 + Missense_Mutation SNP T T C TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr6:56438682T>C uc003pdf.2 - 45 6702 c.6674A>G c.(6673-6675)GAC>GGC p.D2225G DST_uc003pcz.3_Missense_Mutation_p.D2047G|DST_uc011dxj.1_Missense_Mutation_p.D2076G|DST_uc011dxk.1_Missense_Mutation_p.D2087G|DST_uc003pcy.3_Missense_Mutation_p.D1721G|DST_uc010kaa.1_RNA NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 4133 Spectrin 3. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CCCAACAATGTCATCTACTCC 0.398 NA 3 103 0 0 0.115264 0 0 HUS1 3364 broad.mit.edu 37 7 48007448 48007448 + Nonsense_Mutation SNP G G A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr7:48007448G>A uc003tod.1 - 7 845 c.715C>T c.(715-717)CAG>TAG p.Q239* HUS1_uc003toe.1_Nonsense_Mutation_p.Q239*|HUS1_uc011kce.1_RNA NM_004507 NP_004498 O60921 HUS1_HUMAN HUS1 checkpoint protein 239 DNA damage checkpoint|DNA replication Golgi apparatus|nucleolus|nucleoplasm protein binding ovary(2)|lung(2)|kidney(1) 5 Breast(660;0.00139) GCAAGAAACTGTAGGAGCTTC 0.388 Ovarian(103;466 1517 21788 34610 43890) NA Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 25 168 0 0 0.108266 0 0 ZAN 7455 broad.mit.edu 37 7 100391521 100391521 + Missense_Mutation SNP C C T TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr7:100391521C>T uc003uwj.2 + 44 8032 c.7867C>T c.(7867-7869)CGG>TGG p.R2623W ZAN_uc003uwk.2_Intron|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_Intron|ZAN_uc010lhi.2_Intron|ZAN_uc011kke.1_Intron NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 2623 Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TGGCAGACCCCGGGGACTGCG 0.637 NA 29 234 0 0 0.144211 0 0 GBX1 2636 broad.mit.edu 37 7 150845685 150845685 + Silent SNP G G A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr7:150845685G>A uc011kvg.1 - 2 1315 c.1083C>T c.(1081-1083)GCC>GCT p.A361A NM_001098834 NP_001092304 Q14549 GBX1_HUMAN gastrulation brain homeo box 1 361 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCAGGGCCGGGCCCCCTGCT 0.582 NA 8 166 0 0 0.038147 0 0 PDLIM2 64236 broad.mit.edu 37 8 22442336 22442336 + Missense_Mutation SNP C C G TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr8:22442336C>G uc003xby.2 + 4 648 c.248C>G c.(247-249)TCT>TGT p.S83C PDLIM2_uc003xbx.1_Missense_Mutation_p.S83C|PDLIM2_uc003xbz.2_Missense_Mutation_p.S83C|PDLIM2_uc003xca.2_Missense_Mutation_p.S83C|PDLIM2_uc003xcb.2_Missense_Mutation_p.S83C|PDLIM2_uc003xcc.1_Missense_Mutation_p.S83C NM_021630 NP_067643 Q96JY6 PDLI2_HUMAN PDZ and LIM domain 2 isoform 2 83 PDZ. actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus zinc ion binding 0 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626) CTTCTCAGGTCTCAGGCTACG 0.527 NA 46 252 0 0 0.139131 0 0 PDLIM2 64236 broad.mit.edu 37 8 22442594 22442594 + Missense_Mutation SNP C C T TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr8:22442594C>T uc003xby.2 + 5 780 c.380C>T c.(379-381)TCC>TTC p.S127F PDLIM2_uc003xbx.1_Missense_Mutation_p.S127F|PDLIM2_uc003xbz.2_Missense_Mutation_p.S127F|PDLIM2_uc003xca.2_Missense_Mutation_p.S127F|PDLIM2_uc003xcb.2_Missense_Mutation_p.S127F|PDLIM2_uc003xcc.1_Missense_Mutation_p.S127F NM_021630 NP_067643 Q96JY6 PDLI2_HUMAN PDZ and LIM domain 2 isoform 2 127 Ser-rich. actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus zinc ion binding 0 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626) AGCCCAACCTCCCTCAGCCCG 0.622 NA 67 376 0 0 0.139131 0 0 LACTB2 51110 broad.mit.edu 37 8 71570008 71570008 + Silent SNP A A C TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr8:71570008A>C uc011lfd.1 - 3 488 c.396T>G c.(394-396)ACT>ACG p.T132T LACTB2_uc003xyp.2_Silent_p.T132T NM_016027 NP_057111 Q53H82 LACB2_HUMAN lactamase, beta 2 132 hydrolase activity|metal ion binding ovary(1) 1 Breast(64;0.0716) Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166) TGGCTCCCTCAGTCTTAATCA 0.373 NA 20 314 0 0 0.069288 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616928 77616928 + Missense_Mutation SNP G G T TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr8:77616928G>T uc003yav.2 + 2 992 c.605G>T c.(604-606)GGG>GTG p.G202V ZFHX4_uc003yat.1_Missense_Mutation_p.G202V|ZFHX4_uc003yau.1_Missense_Mutation_p.G202V|ZFHX4_uc003yaw.1_Missense_Mutation_p.G202V NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 202 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TCATCCCTCGGGAAACCATTT 0.488 NA HNSCC(33;0.089) 18 113 9.16793e-09 1.15338e-08 0.0333 1 0 TMEM55A 55529 broad.mit.edu 37 8 92033563 92033563 + Missense_Mutation SNP C C T TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr8:92033563C>T uc003yes.2 - 2 402 c.176G>A c.(175-177)CGT>CAT p.R59H NM_018710 NP_061180 Q8N4L2 TM55A_HUMAN transmembrane protein 55A 59 integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity 0 BRCA - Breast invasive adenocarcinoma(11;0.033) TTGGCACACACGGCAGTTTAT 0.458 NA 18 264 0 0 0.043863 0 0 KCNK9 51305 broad.mit.edu 37 8 140631199 140631199 + Missense_Mutation SNP T T C TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr8:140631199T>C uc003yvf.1 - 2 491 c.427A>G c.(427-429)ATT>GTT p.I143V KCNK9_uc003yvg.1_Missense_Mutation_p.I143V|KCNK9_uc003yve.1_RNA NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 143 Cytoplasmic (Potential). integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity ovary(2)|lung(1) 3 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) CACTTCTTAATGCGCTTCAGC 0.592 NA 11 86 0 0 0.09319 0 0 FAM75A6 389730 broad.mit.edu 37 9 43625382 43625382 + Missense_Mutation SNP G G A rs143826416 by1000genomes TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr9:43625382G>A uc011lrb.1 - 4 3334 c.3305C>T c.(3304-3306)CCT>CTT p.P1102L NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 1102 integral to membrane 0 CTTGTGAATAGGGGGAAACAT 0.483 NA 9 414 0 0 0.11911 0 0 PTPDC1 138639 broad.mit.edu 37 9 96859692 96859692 + Missense_Mutation SNP A A T rs143093313 byFrequency TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr9:96859692A>T uc004auf.1 + 7 1022 c.682A>T c.(682-684)ATA>TTA p.I228L PTPDC1_uc004aug.1_Missense_Mutation_p.I228L|PTPDC1_uc004auh.1_Missense_Mutation_p.I280L|PTPDC1_uc010mrj.1_Missense_Mutation_p.I282L|PTPDC1_uc010mri.1_Missense_Mutation_p.I280L NM_177995 NP_818931 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 228 Tyrosine-protein phosphatase. protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 ACCCAATTCCATACAAACCAG 0.423 NA 5 230 0 0 0.021553 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766045 27766045 + Missense_Mutation SNP A A G rs5926895 by1000genomes TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chrX:27766045A>G uc011mjy.1 + 1 1120 c.1033A>G c.(1033-1035)ACC>GCC p.T345A NM_001136533 NP_001130005 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|pancreas(1) 2 TGTTGTCTTCACCATTGACCT 0.478 NA 3 87 0 0 0.014758 0 0 GPC4 2239 broad.mit.edu 37 X 132458560 132458560 + Silent SNP G G A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chrX:132458560G>A uc004exc.1 - 3 536 c.324C>T c.(322-324)TTC>TTT p.F108F GPC4_uc011mvg.1_Silent_p.F38F NM_001448 NP_001439 O75487 GPC4_HUMAN glypican 4 precursor 108 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 Acute lymphoblastic leukemia(192;0.000127) GTTCTTTGAAGAATTCTGAAA 0.284 NA 27 378 0 0 0.116897 0 0 DNAJC11 55735 broad.mit.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC TC - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 TC TC - - TC TC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr1:6727803_6727804delTC uc001aof.2 - 4 449_450 c.343_344delGA c.(343-345)GAAfs p.E115fs DNAJC11_uc010nzt.1_Frame_Shift_Del_p.E77fs|DNAJC11_uc001aog.2_Frame_Shift_Del_p.E115fs|DNAJC11_uc010nzu.1_Frame_Shift_Del_p.E25fs NM_018198 NP_060668 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 115 protein folding heat shock protein binding|unfolded protein binding ovary(1)|skin(1) 2 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TCTCCTCTCTTCTCTCTCTCTC 0.505 NA 9 228 --- --- --- --- NA NA NA NA NA SPEN 23013 broad.mit.edu 37 1 16255142 16255143 + Frame_Shift_Del DEL GA GA - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr1:16255142_16255143delGA uc001axk.1 + 11 2611_2612 c.2407_2408delGA c.(2407-2409)GAGfs p.E803fs SPEN_uc010obp.1_Frame_Shift_Del_p.E762fs NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 803 Arg-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GGAGAGAGTGGAGAGAGAGAGA 0.431 NA 7 282 --- --- --- --- NA NA NA NA NA MST1P9 11223 broad.mit.edu 37 1 17085590 17085595 + In_Frame_Del DEL GCGCTG GCGCTG - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 GCGCTG GCGCTG - - GCGCTG GCGCTG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr1:17085590_17085595delGCGCTG uc010ock.1 - 9 1126_1131 c.1126_1131delCAGCGC c.(1126-1131)CAGCGCdel p.QR376del CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_5'UTR NR_002729 SubName: Full=Hepatocyte growth factor-like protein homolog; 0 CAGCGGACCAGCGCTGGCACTGGACA 0.704 NA 17 343 --- --- --- --- NA NA NA NA NA TMEM48 55706 broad.mit.edu 37 1 54298190 54298192 + In_Frame_Del DEL TTA TTA - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 TTA TTA - - TTA TTA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr1:54298190_54298192delTTA uc001cvs.2 - 3 492_494 c.251_253delTAA c.(250-255)ATAAGT>AGT p.I84del TMEM48_uc010onu.1_In_Frame_Del_p.I84del|TMEM48_uc001cvt.2_5'UTR|TMEM48_uc009vzk.2_RNA|TMEM48_uc010onv.1_5'UTR NM_018087 NP_060557 Q9BTX1 NDC1_HUMAN transmembrane protein 48 84 Helical; Name=2; (Potential). mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore ovary(1)|pancreas(1) 2 TTGAAAATACTTATTATTATTAT 0.305 Ovarian(178;223 2720 6667 9715) NA 7 151 --- --- --- --- NA NA NA NA NA HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 GAA GAA - - GAA GAA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr1:154245864_154245866delGAA uc001fes.2 + 2 267_269 c.106_108delGAA c.(106-108)GAAdel p.E40del HAX1_uc001fet.2_Intron|HAX1_uc010peo.1_In_Frame_Del_p.E40del|HAX1_uc009wou.2_5'UTR|HAX1_uc009wov.2_In_Frame_Del_p.E14del NM_006118 NP_006109 O00165 HAX1_HUMAN HCLS1 associated protein X-1 isoform a 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding 0 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 NA Kostmann_syndrome 10 212 --- --- --- --- NA NA NA NA NA KIAA1462 57608 broad.mit.edu 37 10 30316501 30316503 + In_Frame_Del DEL CTG CTG - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 CTG CTG - - CTG CTG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr10:30316501_30316503delCTG uc001iux.2 - 2 2633_2635 c.2574_2576delCAG c.(2572-2577)AGCAGT>AGT p.858_859SS>S KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_In_Frame_Del_p.720_721SS>S|KIAA1462_uc009xle.1_In_Frame_Del_p.858_859SS>S NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 858_859 Ser-rich. ovary(4) 4 ACTCTCCTCActgctgctgctgc 0.463 NA 12 272 --- --- --- --- NA NA NA NA NA OR5W2 390148 broad.mit.edu 37 11 55681686 55681713 + Frame_Shift_Del DEL CCTTGTACCGATCAAAGGCCATCACTGA CCTTGTACCGATCAAAGGCCATCACTGA - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 CCTTGTACCGATCAAAGGCCATCACTGA CCTTGTACCGATCAAAGGCCATCACTGA - - CCTTGTACCGATCAAAGGCCATCACTGA CCTTGTACCGATCAAAGGCCATCACTGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr11:55681686_55681713delCCTTGTACCGATCAAAGGCCATCACTGA uc010rir.1 - 1 346_373 c.346_373delTCAGTGATGGCCTTTGATCGGTACAAGG c.(346-375)TCAGTGATGGCCTTTGATCGGTACAAGGCCfs p.S116fs NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 116_125 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TTGATGATGGCCTTGTACCGATCAAAGGCCATCACTGACAGCAGTAGA 0.456 Melanoma(48;171 1190 15239 43886 49348) NA 17 205 --- --- --- --- NA NA NA NA NA PPME1 51400 broad.mit.edu 37 11 73950234 73950240 + Frame_Shift_Del DEL AGGAAGA AGGAAGA - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 AGGAAGA AGGAAGA - - AGGAAGA AGGAAGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr11:73950234_73950240delAGGAAGA uc001ouw.2 + 9 866_872 c.767_773delAGGAAGA c.(766-774)GAGGAAGAAfs p.E256fs PPME1_uc009yty.2_Frame_Shift_Del_p.E126fs|PPME1_uc001oux.2_Frame_Shift_Del_p.E69fs NM_016147 NP_057231 Q9Y570 PPME1_HUMAN protein phosphatase methylesterase 1 256_258 Poly-Glu. protein demethylation carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity 0 Breast(11;3.29e-05) GGAATCATAGAGGAAGAAGAAGAAGAT 0.377 NA 10 113 --- --- --- --- NA NA NA NA NA PAK1 5058 broad.mit.edu 37 11 77069990 77069992 + In_Frame_Del DEL CAT CAT - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 CAT CAT - - CAT CAT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr11:77069990_77069992delCAT uc001oyh.3 - 6 1081_1083 c.548_550delATG c.(547-552)GATGCT>GCT p.D183del PAK1_uc010rso.1_In_Frame_Del_p.D85del|PAK1_uc001oyg.3_In_Frame_Del_p.D183del|PAK1_uc001oyi.1_In_Frame_Del_p.D183del|PAK1_uc010rsn.1_5'UTR NM_002576 NP_002567 Q13153 PAK1_HUMAN p21-activated kinase 1 isoform 2 183 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity skin(2)|stomach(1)|lung(1) 4 all_cancers(14;1.75e-18) GGTGGGGTAGcatcatcatcatc 0.429 NA 8 393 --- --- --- --- NA NA NA NA NA LRP6 4040 broad.mit.edu 37 12 12336938 12336951 + Frame_Shift_Del DEL CCAGGAGTTTGACC CCAGGAGTTTGACC - rs142395866 TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 CCAGGAGTTTGACC CCAGGAGTTTGACC - - CCAGGAGTTTGACC CCAGGAGTTTGACC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr12:12336938_12336951delCCAGGAGTTTGACC uc001rah.3 - 5 1081_1094 c.939_952delGGTCAAACTCCTGG c.(937-954)GGGGTCAAACTCCTGGAGfs p.G313fs BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Frame_Shift_Del_p.G313fs NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 313_318 Extracellular (Potential).|EGF-like 1. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) TTTCCATTCTCCAGGAGTTTGACCCCAGTGGGGC 0.383 NA 9 188 --- --- --- --- NA NA NA NA NA CHD8 57680 broad.mit.edu 37 14 21884031 21884031 + Frame_Shift_Del DEL T T - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr14:21884031delT uc001was.1 - 6 1009 c.915delA c.(913-915)AAAfs p.K305fs CHD8_uc001war.1_Frame_Shift_Del_p.K201fs NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 584 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CCTCTGTATATTTTTTTCGCT 0.398 NA 8 582 --- --- --- --- NA NA NA NA NA ZKSCAN2 342357 broad.mit.edu 37 16 25258540 25258557 + In_Frame_Del DEL CTCCATGTTTTTCCTGCA CTCCATGTTTTTCCTGCA - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 CTCCATGTTTTTCCTGCA CTCCATGTTTTTCCTGCA - - CTCCATGTTTTTCCTGCA CTCCATGTTTTTCCTGCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr16:25258540_25258557delCTCCATGTTTTTCCTGCA uc002dod.3 - 5 1367_1384 c.960_977delTGCAGGAAAAACATGGAG c.(958-978)AGTGCAGGAAAAACATGGAGA>AGA p.SAGKTW320del ZKSCAN2_uc010vcl.1_In_Frame_Del_p.SAGKTW116del|ZKSCAN2_uc002doe.2_In_Frame_Del_p.SAGKTW320del NM_001012981 NP_001012999 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 320_325 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|breast(1) 4 GBM - Glioblastoma multiforme(48;0.0378) CTGCTGCTCTCTCCATGTTTTTCCTGCACTCCTTGCAG 0.459 NA 28 264 --- --- --- --- NA NA NA NA NA NOB1 28987 broad.mit.edu 37 16 69782978 69782980 + In_Frame_Del DEL TCC TCC - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 TCC TCC - - TCC TCC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr16:69782978_69782980delTCC uc002exs.2 - 6 583_585 c.567_569delGGA c.(565-570)GAGGAA>GAA p.189_190EE>E NM_014062 NP_054781 Q9ULX3 NOB1_HUMAN nin one binding protein 189_190 Poly-Glu. nucleus metal ion binding|protein binding 0 CCCGTTTTCTTCCTCCTCCTCCT 0.522 NA 9 376 --- --- --- --- NA NA NA NA NA NF1 4763 broad.mit.edu 37 17 29665755 29665756 + Frame_Shift_Ins INS - - A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr17:29665755_29665756insA uc002hgg.2 + 46 7186_7187 c.6853_6854insA c.(6853-6855)TACfs p.Y2285fs NF1_uc002hgh.2_Frame_Shift_Ins_p.Y2264fs|NF1_uc010cso.2_Frame_Shift_Ins_p.Y473fs|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_RNA NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2285 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.Y2285fs*5(4)|p.Y2285*(2) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ACCTGACACTTACAACAGTCAA 0.312 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 41 235 --- --- --- --- NA NA NA NA NA GAS2L2 246176 broad.mit.edu 37 17 34071994 34071996 + In_Frame_Del DEL TCC TCC - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 TCC TCC - - TCC TCC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr17:34071994_34071996delTCC uc002hjv.1 - 6 2548_2550 c.2520_2522delGGA c.(2518-2523)GAGGAA>GAA p.840_841EE>E NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 840_841 cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ctcctttccttcctcctcctcct 0.527 NA 7 241 --- --- --- --- NA NA NA NA NA TRIM25 7706 broad.mit.edu 37 17 54978862 54978862 + Frame_Shift_Del DEL T T - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr17:54978862delT uc002iut.2 - 4 1065 c.1005delA c.(1003-1005)AAAfs p.K335fs TRIM25_uc010dcj.2_Frame_Shift_Del_p.K127fs NM_005082 NP_005073 Q14258 TRI25_HUMAN tripartite motif-containing 25 335 Interaction with influenza A virus NS1. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding lung(1)|breast(1)|skin(1) 3 Breast(9;6.15e-08) GGTGGATGCCTTTTATCAGCT 0.547 NA 8 1353 --- --- --- --- NA NA NA NA NA LILRB2 10288 broad.mit.edu 37 19 54780707 54780709 + In_Frame_Del DEL GAG GAG - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 GAG GAG - - GAG GAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr19:54780707_54780709delGAG uc002qfb.2 - 10 1701_1703 c.1435_1437delCTC c.(1435-1437)CTCdel p.L479del LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_In_Frame_Del_p.L479del|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_In_Frame_Del_p.L478del|LILRB2_uc010yet.1_In_Frame_Del_p.L363del NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 479 Helical; (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ggatgaggaagaggaggaggagg 0.488 NA 9 343 --- --- --- --- NA NA NA NA NA LOXL3 84695 broad.mit.edu 37 2 74763924 74763924 + Frame_Shift_Del DEL C C - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr2:74763924delC uc002smp.1 - 5 896 c.824delG c.(823-825)GGCfs p.G275fs LOXL3_uc002smo.1_Intron|LOXL3_uc010ffm.1_Frame_Shift_Del_p.G275fs|LOXL3_uc002smq.1_Intron|LOXL3_uc010ffn.1_Intron NM_032603 NP_115992 P58215 LOXL3_HUMAN lysyl oxidase-like 3 precursor 275 SRCR 2. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity 0 CACTGCAGGGCCCCCCCCAGG 0.647 NA 9 378 --- --- --- --- NA NA NA NA NA TEKT4 150483 broad.mit.edu 37 2 95539829 95539830 + Frame_Shift_Ins INS - - G rs35031477 TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr2:95539829_95539830insG uc002stw.1 + 3 782_783 c.689_690insG c.(688-690)CCGfs p.P230fs uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA NM_144705 NP_653306 Q8WW24 TEKT4_HUMAN tektin 4 230 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|breast(1)|skin(1) 3 CAGGCTCATCCGTACTCCACCA 0.663 NA 7 295 --- --- --- --- NA NA NA NA NA RGPD3 653489 broad.mit.edu 37 2 107041534 107041534 + Frame_Shift_Del DEL A A - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr2:107041534delA uc010ywi.1 - 20 2946 c.2889delT c.(2887-2889)TTTfs p.F963fs NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 963 intracellular transport binding ovary(1) 1 TTGTTTGGCCAAAAATCACAC 0.398 NA 8 865 --- --- --- --- NA NA NA NA NA FRG1B 284802 broad.mit.edu 37 20 29625899 29625900 + Frame_Shift_Ins INS - - AT TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr20:29625899_29625900insAT uc010ztl.1 + 2 85_86 c.53_54insAT c.(52-54)AAAfs p.K18fs FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 GGCTATGGAAAATATCTTGGTA 0.342 NA 10 214 --- --- --- --- NA NA NA NA NA CTCFL 140690 broad.mit.edu 37 20 56099187 56099187 + Frame_Shift_Del DEL T T - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr20:56099187delT uc010gix.1 - 1 737 c.75delA c.(73-75)AAAfs p.K25fs CTCFL_uc010giw.1_Frame_Shift_Del_p.K25fs|CTCFL_uc002xym.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjb.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjc.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjd.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gje.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjk.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjl.1_Frame_Shift_Del_p.K25fs NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN CCCTC-binding factor-like protein 25 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding ovary(2)|large_intestine(1)|skin(1) 4 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CCTTCAGGCCTTTTTCCGGCA 0.502 NA 9 1367 --- --- --- --- NA NA NA NA NA PLAC4 191585 broad.mit.edu 37 21 42551433 42551433 + Frame_Shift_Del DEL G G - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr21:42551433delG uc002yyz.2 - 1 5734 c.123delC c.(121-123)CCCfs p.P41fs BACE2_uc002yyw.2_Intron|BACE2_uc002yyx.2_Intron|BACE2_uc002yyy.2_Intron NM_182832 NP_878252 Q8WY50 PLAC4_HUMAN placenta-specific 4 41 P -> H (in Ref. 1; AAG23170). 0 Prostate(19;2.29e-06) GACGGTGTCTGGGGTGAGTGA 0.517 NA 17 64 --- --- --- --- NA NA NA NA NA MBNL1 4154 broad.mit.edu 37 3 152132832 152132832 + Frame_Shift_Del DEL A A - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr3:152132832delA uc003ezm.2 + 2 1066 c.277delA c.(277-279)ATGfs p.M93fs MBNL1_uc003ezh.2_Frame_Shift_Del_p.M93fs|MBNL1_uc003ezi.2_Frame_Shift_Del_p.M93fs|MBNL1_uc003ezj.2_Frame_Shift_Del_p.M36fs|MBNL1_uc003ezl.2_Frame_Shift_Del_p.M93fs|MBNL1_uc003ezp.2_Frame_Shift_Del_p.M93fs|MBNL1_uc003ezn.2_Frame_Shift_Del_p.M93fs|MBNL1_uc003ezo.2_Frame_Shift_Del_p.M93fs|MBNL1_uc010hvp.2_Frame_Shift_Del_p.M1fs NM_207293 NP_997176 Q9NR56 MBNL1_HUMAN muscleblind-like 1 isoform c 93 embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development nucleus|stress granule double-stranded RNA binding|protein binding|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) GCAGAAGAACATGGCCATGTT 0.463 NA 46 221 --- --- --- --- NA NA NA NA NA OTOP1 133060 broad.mit.edu 37 4 4204225 4204229 + Frame_Shift_Del DEL TTGAG TTGAG - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 TTGAG TTGAG - - TTGAG TTGAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr4:4204225_4204229delTTGAG uc003ghp.1 - 4 706_710 c.676_680delCTCAA c.(676-681)CTCAATfs p.L226fs NM_177998 NP_819056 Q7RTM1 OTOP1_HUMAN otopetrin 1 226_227 biomineral tissue development extracellular space|integral to membrane ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTTGTGCTCATTGAGTTGGTGCTTT 0.502 NA 7 365 --- --- --- --- NA NA NA NA NA MAML3 55534 broad.mit.edu 37 4 140811064 140811072 + Splice_Site DEL TGCTGCTGC TGCTGCTGC - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 TGCTGCTGC TGCTGCTGC - - TGCTGCTGC TGCTGCTGC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr4:140811064_140811072delTGCTGCTGC uc003ihz.1 - 3 2265 c.1513_splice c.e3-1 p.Q505_splice MAML3_uc011chd.1_Intron NM_018717 NP_061187 Q96JK9 MAML3_HUMAN mastermind-like 3 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity ovary(1) 1 all_hematologic(180;0.162) TGAGtgctgttgctgctgctgctgctgct 0.263 NA 7 238 --- --- --- --- NA NA NA NA NA PAPD7 11044 broad.mit.edu 37 5 6755013 6755014 + Frame_Shift_Del DEL AC AC - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 AC AC - - AC AC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr5:6755013_6755014delAC uc003jdx.1 + 13 1713_1714 c.1584_1585delAC c.(1582-1587)AAACACfs p.K528fs PAPD7_uc011cmn.1_Frame_Shift_Del_p.K518fs|PAPD7_uc010itl.1_Frame_Shift_Del_p.K348fs NM_006999 NP_008930 Q5XG87 PAPD7_HUMAN DNA polymerase sigma 528_529 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding ovary(1) 1 GGAGGAAAAAACACACACACAC 0.653 NSCLC(7;212 333 5667 23379 46547) NA 7 192 --- --- --- --- NA NA NA NA NA SLC22A4 6583 broad.mit.edu 37 5 131676327 131676327 + Frame_Shift_Del DEL T T - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr5:131676327delT uc003kwq.2 + 9 1679 c.1514delT c.(1513-1515)CTTfs p.L505fs uc003kwr.3_Intron NM_003059 NP_003050 Q9H015 S22A4_HUMAN solute carrier family 22 member 4 505 Helical; Name=12; (Potential). body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity 0 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) ATCCTCACCCTTTTTTTCCCT 0.418 NA 10 647 --- --- --- --- NA NA NA NA NA VDAC1 7416 broad.mit.edu 37 5 133316639 133316639 + Frame_Shift_Del DEL T T - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr5:133316639delT uc003kyp.1 - 6 431 c.332delA c.(331-333)AATfs p.N111fs VDAC1_uc003kyq.1_Frame_Shift_Del_p.N111fs|VDAC1_uc003kyr.1_Frame_Shift_Del_p.N111fs NM_003374 NP_003365 P21796 VDAC1_HUMAN voltage-dependent anion channel 1 111 Beta stranded. apoptosis|interspecies interaction between organisms mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex porin activity|protein binding|voltage-gated anion channel activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) Dihydroxyaluminium(DB01375) GATTTTAGCATTTTTTTTCCT 0.403 NSCLC(127;1776 1806 35523 41489 48154) NA 7 294 --- --- --- --- NA NA NA NA NA HSP90AB1 3326 broad.mit.edu 37 6 44221052 44221052 + Frame_Shift_Del DEL T T - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr6:44221052delT uc003oxa.1 + 11 2086 c.2002delT c.(2002-2004)TTTfs p.F668fs HSP90AB1_uc011dvr.1_Frame_Shift_Del_p.F658fs|HSP90AB1_uc003oxb.1_Frame_Shift_Del_p.F668fs|HSP90AB1_uc011dvs.1_Frame_Shift_Del_p.F488fs|HSP90AB1_uc003oxc.1_Frame_Shift_Del_p.F306fs NM_007355 NP_031381 P08238 HS90B_HUMAN heat shock 90kDa protein 1, beta 668 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding lung(3)|breast(1) 4 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ATCTTCTGGCTTTTCCCTTGA 0.527 NA 9 1724 --- --- --- --- NA NA NA NA NA TDRD6 221400 broad.mit.edu 37 6 46660414 46660415 + Frame_Shift_Ins INS - - A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr6:46660414_46660415insA uc003oyj.2 + 1 4549_4550 c.4549_4550insA c.(4549-4551)GAAfs p.E1517fs TDRD6_uc010jze.2_Frame_Shift_Ins_p.E1511fs NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 1517 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) GTATAATCCAGAAAAAAAAATG 0.351 NA 8 237 --- --- --- --- NA NA NA NA NA SCIN 85477 broad.mit.edu 37 7 12692267 12692269 + In_Frame_Del DEL TCA TCA - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 TCA TCA - - TCA TCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr7:12692267_12692269delTCA uc003ssn.3 + 16 2285_2287 c.2075_2077delTCA c.(2074-2079)GTCATC>GTC p.I694del SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_In_Frame_Del_p.I447del NM_001112706 NP_001106177 Q9Y6U3 ADSV_HUMAN scinderin isoform 1 694 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) ACACCAATTGTCATCATAAAACA 0.404 NA 39 261 --- --- --- --- NA NA NA NA NA NPM2 10361 broad.mit.edu 37 8 21892020 21892021 + Splice_Site INS - - A TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr8:21892020_21892021insA uc003xab.2 + 7 1190 c.532_splice c.e7-1 p.K178_splice NPM2_uc003xac.2_Splice_Site_p.K178_splice|NPM2_uc003xad.2_Splice_Site_p.K178_splice|NPM2_uc003xae.2_Splice_Site_p.K178_splice|NPM2_uc003xaf.2_Splice_Site_p.E122_splice NM_182795 NP_877724 Q86SE8 NPM2_HUMAN nucleoplasmin 2 chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization cytoplasmic chromatin|nuclear chromatin histone binding|nucleic acid binding 0 Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618) TTGGTTCCCAGAAAAAAAAGCT 0.292 NA 7 727 --- --- --- --- NA NA NA NA NA ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 CAG CAG - - CAG CAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chr9:119976989_119976991delCAG uc004bjs.1 - 3 762_764 c.661_663delCTG c.(661-663)CTGdel p.L221del ASTN2_uc004bjr.1_In_Frame_Del_p.L221del|ASTN2_uc004bjt.1_In_Frame_Del_p.L221del NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 221 Helical; (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CGGTGAACACCAGCAGCAGCAGC 0.601 NA 10 199 --- --- --- --- NA NA NA NA NA ATXN3L 92552 broad.mit.edu 37 X 13337469 13337469 + Frame_Shift_Del DEL T T - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 354e2e65-84fe-4304-960d-a17e78eadc66 caaf6b26-7264-4cab-b984-e406075c7f33 g.chrX:13337469delT uc010ned.2 - 1 1050 c.585delA c.(583-585)AAAfs p.K195fs NM_001135995 NP_001129467 Q9H3M9 ATX3L_HUMAN ataxin 3-like 195 protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity lung(2)|ovary(2)|large_intestine(1)|skin(1) 6 GTTTTACTAATTTTTTTCCAT 0.383 NA 9 468 --- --- --- --- NA NA NA NA NA