Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ZNF488 118738 broad.mit.edu 37 10 48370853 48370853 + Missense_Mutation SNP G G C TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr10:48370853G>C ENST00000395702.2 + 2 548 c.321G>C c.(319-321)agG>agC p.R107S ZNF488_ENST00000586537.1_5'UTR|ZNF488_ENST00000494156.1_Missense_Mutation_p.G72A Q96MN9 ZN488_HUMAN zinc finger protein 488 107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 AGCTGCCGAGGATGAAGGACC 0.662000 4 41 0 0 1 0 0 SLC38A3 10991 broad.mit.edu 37 3 50255129 50255129 + RNA SNP G G A TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr3:50255129G>A ENST00000420502.1 + 0 865 Q99624 S38A3_HUMAN solute carrier family 38, member 3 cellular nitrogen compound metabolic process|sodium ion transport integral to plasma membrane antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity breast(1)|cervix(1)|endometrium(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615) L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117) AAAGTTCCACGTGCCCTGCCC 0.577000 23 43 0 0 1 0 0 LILRA5 353514 broad.mit.edu 37 19 54818795 54818795 + Missense_Mutation SNP C C T rs145816402 byFrequency TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr19:54818795C>T ENST00000301219.3 - 7 922 c.803G>A c.(802-804)cGc>cAc p.R268H LILRA5_ENST00000346508.3_Missense_Mutation_p.R256H NM_021250.2 NP_067073.1 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 268 innate immune response extracellular region|integral to membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CATGCCCATGCGGATGAGATT 0.557000 6 117 0 0 1 0 0 DCBLD2 131566 broad.mit.edu 37 3 98530329 98530329 + Missense_Mutation SNP G G A TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr3:98530329G>A ENST00000326840.6 - 11 1795 c.1433C>T c.(1432-1434)cCt>cTt p.P478L DCBLD2_ENST00000326857.9_Missense_Mutation_p.P478L NM_080927.3 NP_563615.3 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 478 cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing cell surface|integral to plasma membrane breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2) 25 TATTTTTGGAGGGGCTGTAGT 0.353000 5 99 0 0 1 0 0 ZNF37A 7587 broad.mit.edu 37 10 38407308 38407308 + Missense_Mutation SNP C C T TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr10:38407308C>T ENST00000351773.3 + 8 2059 c.1229C>T c.(1228-1230)cCt>cTt p.P410L ZNF37A_ENST00000361085.4_Missense_Mutation_p.P410L NM_001007094.2 NP_001007095.1 P17032 ZN37A_HUMAN zinc finger protein 37A 410 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 GGTGAAAAACCTTATGAATGT 0.393000 5 64 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149493797 149493797 + RNA SNP G G T TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr7:149493797G>T ENST00000378016.2 + 0 6793 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGGCTCGGATGAGGAGGGCTG 0.642000 6 27 3.59834e-05 3.59834e-05 1 1 0 DIP2A 23181 broad.mit.edu 37 21 47974581 47974581 + Missense_Mutation SNP C C T TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr21:47974581C>T ENST00000318711.7 + 27 3434 c.3251C>T c.(3250-3252)aCa>aTa p.T1084I DIP2A_ENST00000417564.2_Missense_Mutation_p.T1083I|DIP2A_ENST00000427143.2_Missense_Mutation_p.T1019I|DIP2A_ENST00000400274.1_Missense_Mutation_p.T1079I NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 1083 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) CTCGGCACCACACTGCCCACC 0.657000 9 9 0 0 1 0 0 STON1 11037 broad.mit.edu 37 2 48807854 48807854 + Missense_Mutation SNP C C T rs144911860 TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr2:48807854C>T ENST00000309835.3 + 1 92 c.82C>T c.(82-84)Cct>Tct p.P28S STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P28S|STON1_ENST00000406226.1_Missense_Mutation_p.P28S|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P28S|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P28S|STON1_ENST00000404752.1_Missense_Mutation_p.P28S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P28S|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P28S stonin 1 p.P28S(2) NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AAAGAATTTTCCTCTGGAGAA 0.473000 9 104 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887393 155887393 + Missense_Mutation SNP T T G TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr1:155887393T>G ENST00000368320.3 - 11 1362 c.1337A>C c.(1336-1338)cAg>cCg p.Q446P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P Q7Z7F0 K0907_HUMAN KIAA0907 446 Pro-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggctgggg 0.567000 15 57 0 0 1 0 0 GABBR2 9568 broad.mit.edu 37 9 101061590 101061590 + Missense_Mutation SNP G G T TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr9:101061590G>T ENST00000259455.2 - 17 2917 c.2458C>A c.(2458-2460)Cca>Aca p.P820T NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 820 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) GTCTTTTCTGGTGTGTCCTGC 0.517000 72 172 3.61678e-42 3.9837e-42 1 1 0 MYD88 4615 broad.mit.edu 37 3 38182083 38182083 + Splice_Site SNP G G T TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr3:38182083G>T ENST00000417037.2 + 3 891 c.707_splice c.e3+1 p.G236_splice MYD88_ENST00000443433.2_Intron|MYD88_ENST00000396334.3_Intron|MYD88_ENST00000424893.1_Intron|MYD88_ENST00000481122.1_Intron|MYD88_ENST00000495303.1_Intron NM_001172567.1 NP_001166038.1 Q99836 MYD88_HUMAN myeloid differentiation primary response 88 215 TIR. 3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|intrinsic to membrane|plasma membrane death receptor binding|TIR domain binding|transmembrane receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 237 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CCACGGGGTGGGTGCGTGGAT 0.592000 Mis ABC-DLBCL 11 94 1.58986e-06 1.63283e-06 1 1 0 ATG9B 285973 broad.mit.edu 37 7 150718370 150718370 + Missense_Mutation SNP C C T TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr7:150718370C>T ENST00000605938.1 - 5 943 c.868G>A c.(868-870)Ggc>Agc p.G290S ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605952.1_Missense_Mutation_p.G290S|ATG9B_ENST00000444312.1_Silent_p.P27P|ATG9B_ENST00000377974.2_Missense_Mutation_p.G290S NM_173681.5 NP_775952.4 Q674R7 ATG9B_HUMAN autophagy related 9B 290 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGCCAGAAGCCGGCAGCCAGG 0.637000 6 63 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140166068 140166068 + Missense_Mutation SNP C C T TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr5:140166068C>T ENST00000504120.2 + 1 193 c.193C>T c.(193-195)Cgg>Tgg p.R65W PCDHA1_ENST00000378133.3_Missense_Mutation_p.R65W|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R65W NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGCCTGTTCCGGGTGGCGTC 0.587000 55 179 0 0 1 0 0 PRR23A 729627 broad.mit.edu 37 3 138724643 138724643 + Silent SNP G G A TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr3:138724643G>A ENST00000383163.2 - 1 467 c.468C>T c.(466-468)taC>taT p.Y156Y NM_001134659.1 NP_001128131.1 A6NEV1 PR23A_HUMAN proline rich 23A 156 p.Y156Y(1) endometrium(3)|kidney(1)|lung(7) 11 CGTCCTCCTCGTAGGCCTCTT 0.632000 19 41 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43322938 43322938 + Missense_Mutation SNP A A G TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr6:43322938A>G ENST00000361428.2 - 4 2211 c.2134T>C c.(2134-2136)Ttc>Ctc p.F712L ZNF318_ENST00000318149.3_Missense_Mutation_p.F712L NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 712 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) GACTTTAGGAATGGAGGGCTG 0.517000 17 71 0 0 1 0 0 AGO4 192670 broad.mit.edu 37 1 36306786 36306786 + Missense_Mutation SNP C C T TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr1:36306786C>T ENST00000373210.3 + 14 1990 c.1745C>T c.(1744-1746)cCt>cTt p.P582L NM_017629.3 NP_060099.2 argonaute RISC catalytic component 4 TTCCAGCAGCCTGTCATCTTC 0.507000 56 67 0 0 1 0 0 MCL1 4170 broad.mit.edu 37 1 150551665 150551665 + Silent SNP C C A TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr1:150551665C>A ENST00000369026.2 - 1 401 c.342G>T c.(340-342)ccG>ccT p.P114P MCL1_ENST00000307940.3_Silent_p.P114P NM_001197320.1|NM_021960.4 NP_001184249.1|NP_068779.1 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 (BCL2-related) 114 PEST-like. anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity endometrium(2)|large_intestine(1)|lung(4)|prostate(1) 8 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CGTCAGCGGCCGGGGCTTCCA 0.721000 9 52 1.12685e-05 1.14188e-05 1 1 0 OR2L2 26246 broad.mit.edu 37 1 248201769 248201769 + Missense_Mutation SNP T T A rs143422408 TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr1:248201769T>A ENST00000366479.2 + 1 296 c.200T>A c.(199-201)cTc>cAc p.L67H OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CAGCTCTCCCTCATTGACCTA 0.388000 33 458 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10081545 10081545 + Silent SNP G G C rs17032283 by1000genomes TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr3:10081545G>C ENST00000431693.1 + 8 749 c.711G>C c.(709-711)ctG>ctC p.L237L FANCD2_ENST00000419585.1_Intron|FANCD2_ENST00000383806.1_Intron|FANCD2_ENST00000383807.1_Intron|FANCD2_ENST00000438741.1_Intron|FANCD2_ENST00000287647.3_Intron Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 0 Interaction with FANCE. DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TAAACCCTCTGTCATCATCTA 0.478000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 6 93 0 0 1 0 0 ABCC4 10257 broad.mit.edu 37 13 95840728 95840728 + Silent SNP G G A TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr13:95840728G>A ENST00000376887.4 - 10 1446 c.1332C>T c.(1330-1332)gtC>gtT p.V444V ABCC4_ENST00000536256.1_Silent_p.V369V|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000431522.1_Silent_p.V444V|ABCC4_ENST00000412704.1_Silent_p.V444V NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 444 ABC transporter 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) CCACGGGGCCGACCACAGCTA 0.478000 35 110 0 0 1 0 0 RGL3 57139 broad.mit.edu 37 19 11510959 11510959 + Missense_Mutation SNP C C T rs117608091 byFrequency TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr19:11510959C>T ENST00000380456.3 - 14 1562 c.1499G>A c.(1498-1500)cGg>cAg p.R500Q RGL3_ENST00000393423.3_Missense_Mutation_p.R500Q NM_001035223.2|NM_001161616.1 NP_001030300.2|NP_001155088.1 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation stimulator-like 3 500 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1) 18 CTCAATGACCCGGGAGAGCCG 0.612000 7 84 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25936345 25936345 + Nonsense_Mutation SNP C C T TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr17:25936345C>T ENST00000398988.3 + 18 2315 c.1870C>T c.(1870-1872)Cga>Tga p.R624* KSR1_ENST00000319524.6_Nonsense_Mutation_p.R761*|KSR1_ENST00000268763.6_Nonsense_Mutation_p.R624*|KSR1_ENST00000509603.2_Nonsense_Mutation_p.R739* NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 759 Protein kinase. Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) AGGCGTGGTCCGAGAGGGACG 0.542000 33 142 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167829118 167829118 + Missense_Mutation SNP C C T TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr1:167829118C>T ENST00000367848.1 - 16 2044 c.1547G>A c.(1546-1548)cGg>cAg p.R516Q ADCY10_ENST00000367851.4_Missense_Mutation_p.R608Q|ADCY10_ENST00000545172.1_Missense_Mutation_p.R455Q Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 608 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 GGAAATCTCCCGAGAAATAGG 0.373000 30 163 0 0 1 0 0 CIDECP 152302 broad.mit.edu 37 3 10059658 10059658 + RNA SNP G G T rs9862221 by1000genomes TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr3:10059658G>T ENST00000432401.1 - 0 505 GGGGATGCCCGTCCTCTGTGG 0.597000 15 127 6.31663e-08 6.76146e-08 1 1 0 PLK1 5347 broad.mit.edu 37 16 23691507 23691507 + Nonsense_Mutation SNP C C T TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr16:23691507C>T ENST00000300093.4 + 2 622 c.511C>T c.(511-513)Cga>Tga p.R171* PLK1_ENST00000564202.1_3'UTR NM_005030.3 NP_005021.2 P53350 PLK1_HUMAN polo-like kinase 1 171 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(48;0.0156) GCACCGAAACCGAGTTATTCA 0.532000 10 211 0 0 1 0 0 MAML2 84441 broad.mit.edu 37 11 95712515 95712515 + Missense_Mutation SNP G G A TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr11:95712515G>A ENST00000524717.1 - 5 4352 c.3068C>T c.(3067-3069)gCa>gTa p.A1023V NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 1023 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) CATTTGCACTGCTGGTGTTAA 0.512000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 4 32 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101605814 101605814 + Silent SNP C C T TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr15:101605814C>T ENST00000284395.5 + 33 5563 c.5163C>T c.(5161-5163)tgC>tgT p.C1721C RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Silent_p.C1724C|LRRK1_ENST00000532145.1_3'UTR Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1724 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TGGAGATCTGCAGGCGGCTGG 0.627000 27 92 0 0 1 0 0 KIAA0408 9729 broad.mit.edu 37 6 127768034 127768034 + Missense_Mutation SNP G G C TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr6:127768034G>C ENST00000483725.3 - 5 1766 c.1430C>G c.(1429-1431)aCc>aGc p.T477S SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 477 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) AGTAGATGAGGTATCACAGGG 0.423000 25 74 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2815682 2815682 + Missense_Mutation SNP C C G TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr16:2815682C>G ENST00000301740.8 + 11 5702 c.5153C>G c.(5152-5154)tCt>tGt p.S1718C NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1718 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 GAAACTCGCTCTAGAACTCCC 0.597000 9 96 0 0 1 0 0 KLHL17 339451 broad.mit.edu 37 1 900406 900406 + Silent SNP C C T TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr1:900406C>T ENST00000338591.3 + 12 1871 c.1764C>T c.(1762-1764)agC>agT p.S588S NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch-like family member 17 588 Interaction with F-actin (By similarity). actin cytoskeleton organization actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane protein complex scaffold central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) ACGACGGTAGCTCCAGCCTCA 0.647000 20 94 0 0 1 0 0 RNASE3 6037 broad.mit.edu 37 14 21360107 21360107 + Missense_Mutation SNP C C T TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr14:21360107C>T ENST00000304639.3 + 2 320 c.262C>T c.(262-264)Cgc>Tgc p.R88C NM_002935.2 NP_002926.2 P12724 ECP_HUMAN ribonuclease, RNase A family, 3 88 defense response to bacterium|RNA catabolic process extracellular region|soluble fraction nucleic acid binding|pancreatic ribonuclease activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1) 9 all_cancers(95;0.00453) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) Pranlukast(DB01411) CCAAAGTATACGCTGCCCTCA 0.403000 7 177 0 0 1 0 0 EHHADH 1962 broad.mit.edu 37 3 184922343 184922343 + Silent SNP T T A TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr3:184922343T>A ENST00000231887.3 - 6 846 c.771A>T c.(769-771)ctA>ctT p.L257L EHHADH_ENST00000456310.1_Silent_p.L161L NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 257 Enoyl-CoA hydratase / isomerase. peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) GCAAAAGATATAGAAACAGCT 0.512000 67 186 0 0 1 0 0 OR51T1 401665 broad.mit.edu 37 11 4903362 4903362 + Missense_Mutation SNP C C T TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr11:4903362C>T ENST00000380378.1 + 1 314 c.314C>T c.(313-315)aCg>aTg p.T105M OR51T1_ENST00000322049.1_Missense_Mutation_p.T78M|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004759.1 NP_001004759.1 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, member 1 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGACCATTACGACCCTTCCC 0.443000 6 105 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5963299 5963299 + Silent SNP G G A TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr12:5963299G>A ENST00000546188.1 - 4 602 c.531C>T c.(529-531)agC>agT p.S177S ANO2_ENST00000356134.5_Silent_p.S177S|ANO2_ENST00000327087.8_Silent_p.S177S Q9NQ90 ANO2_HUMAN anoctamin 2 181 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 TGGATCCCTGGCTTTTATTCT 0.458000 63 182 0 0 1 0 0 AMBRA1 55626 broad.mit.edu 37 11 46515726 46515726 + Missense_Mutation SNP C C G TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr11:46515726C>G ENST00000458649.2 - 10 2786 c.2368G>C c.(2368-2370)Gct>Cct p.A790P AMBRA1_ENST00000298834.3_Missense_Mutation_p.A730P|AMBRA1_ENST00000529963.1_5'UTR|AMBRA1_ENST00000426438.1_Missense_Mutation_p.A761P|AMBRA1_ENST00000534300.1_Missense_Mutation_p.A730P|AMBRA1_ENST00000533727.1_Missense_Mutation_p.A671P|AMBRA1_ENST00000528950.1_Missense_Mutation_p.A761P|AMBRA1_ENST00000314845.3_Missense_Mutation_p.A700P Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 790 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) TTGCGTGGAGCTCGGTGCCTG 0.493000 4 25 0 0 1 0 0 ANKMY2 57037 broad.mit.edu 37 7 16649287 16649287 + Nonsense_Mutation SNP G G A TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr7:16649287G>A ENST00000306999.2 - 7 1093 c.850C>T c.(850-852)Cag>Tag p.Q284* NM_020319.2 NP_064715.1 Q8IV38 ANKY2_HUMAN ankyrin repeat and MYND domain containing 2 284 cilium zinc ion binding p.Q284E(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 23 Lung NSC(10;0.103)|all_lung(11;0.204) UCEC - Uterine corpus endometrioid carcinoma (126;0.195) CGAACCAGCTGCTGGAGGAGT 0.398000 4 51 0 0 1 0 0 CCDC62 84660 broad.mit.edu 37 12 123286393 123286393 + Missense_Mutation SNP C C T TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr12:123286393C>T ENST00000253079.6 + 9 2044 c.1700C>T c.(1699-1701)cCg>cTg p.P567L CCDC62_ENST00000537566.1_Missense_Mutation_p.P328L|CCDC62_ENST00000392441.4_Missense_Mutation_p.P567L|CCDC62_ENST00000392440.2_Missense_Mutation_p.P328L NM_201435.4 NP_958843.2 Q6P9F0 CCD62_HUMAN coiled-coil domain containing 62 567 cytoplasm|nucleus p.P567Q(2) breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) CATGACTCCCCGGCAAGGTGA 0.473000 22 332 0 0 1 0 0 EFR3A 23167 broad.mit.edu 37 8 132968110 132968110 + Missense_Mutation SNP C C T TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr8:132968110C>T ENST00000254624.5 + 7 959 c.734C>T c.(733-735)gCa>gTa p.A245V EFR3A_ENST00000519656.1_Missense_Mutation_p.A209V|EFR3A_ENST00000334503.4_Missense_Mutation_p.A245V NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 245 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) CTGGGTCGAGCAACTTTTGGG 0.408000 6 91 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133248870 133248870 + Silent SNP C C T TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr12:133248870C>T ENST00000320574.5 - 16 1768 c.1725G>A c.(1723-1725)gaG>gaA p.E575E POLE_ENST00000535270.1_Silent_p.E548E NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 575 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GCAAGGTCTTCTCAACCCGCT 0.572000 DNA polymerases (catalytic subunits) 15 97 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55143067 55143067 + Missense_Mutation SNP G G C TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr19:55143067G>C ENST00000396331.1 + 5 544 c.187G>C c.(187-189)Gaa>Caa p.E63Q LILRB1_ENST00000396315.1_Missense_Mutation_p.E63Q|LILRB1_ENST00000396317.1_Missense_Mutation_p.E63Q|LILRB1_ENST00000396327.3_Missense_Mutation_p.E63Q|LILRB1_ENST00000396321.2_Missense_Mutation_p.E63Q|LILRB1_ENST00000448689.1_Missense_Mutation_p.E63Q|LILRB1_ENST00000418536.2_Missense_Mutation_p.E63Q|LILRB1_ENST00000324602.7_Missense_Mutation_p.E63Q|LILRB1_ENST00000434867.2_Missense_Mutation_p.E63Q|LILRB1_ENST00000396332.4_Missense_Mutation_p.E63Q|LILRB1_ENST00000427581.2_Missense_Mutation_p.E99Q NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 63 Ig-like C2-type 1. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) TCTATATAGAGAAAAGAAAAC 0.572000 HNSCC(37;0.09) 10 199 0 0 1 0 0 CHRNB4 1143 broad.mit.edu 37 15 78917350 78917350 + Missense_Mutation SNP T T G TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr15:78917350T>G ENST00000412074.2 - 5 754 c.643A>C c.(643-645)Acc>Ccc p.T215P CHRNB4_ENST00000261751.3_3'UTR NM_001256567.1 NP_001243496.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 0 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 CTGTGGCTGGTTTGATGGGGT 0.572000 11 23 0 0 1 0 0 RAET1K 646024 broad.mit.edu 37 6 150322031 150322031 + RNA SNP C C A TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr6:150322031C>A ENST00000533735.1 - 0 845 NR_024045.1 AAAAAGTCTTCAAGCCATGTC 0.438000 6 55 1.06961e-07 1.12904e-07 1 1 0 NAPEPLD 222236 broad.mit.edu 37 7 102760466 102760466 + Missense_Mutation SNP G G A TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr7:102760466G>A ENST00000417955.1 - 3 653 c.499C>T c.(499-501)Cgt>Tgt p.R167C NAPEPLD_ENST00000465647.1_Missense_Mutation_p.R167C|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.R167C|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.R240C|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.R167C Q6IQ20 NAPEP_HUMAN N-acyl phosphatidylethanolamine phospholipase D 167 phospholipid catabolic process membrane metal ion binding endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 CACGGGGAACGACGAAATCGC 0.468000 51 206 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23895277 23895277 + Silent SNP G G A TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr14:23895277G>A ENST00000355349.3 - 19 2220 c.2058C>T c.(2056-2058)aaC>aaT p.N686N NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 686 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TGACCAGGGGGTTGTCCATCA 0.567000 10 55 0 0 1 0 0 RPS6KA3 6197 broad.mit.edu 37 X 20222213 20222213 + Silent SNP T T C TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chrX:20222213T>C ENST00000379565.3 - 4 459 c.252A>G c.(250-252)ttA>ttG p.L84L RPS6KA3_ENST00000544447.1_Silent_p.L56L|RPS6KA3_ENST00000379548.4_Silent_p.L55L|RPS6KA3_ENST00000540702.1_Silent_p.L56L NM_004586.2 NP_004577.1 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 3 84 Protein kinase 1. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1) 41 TTTTTTTAACTAAGAAAACCT 0.313000 8 87 0 0 1 0 0 CHIT1 1118 broad.mit.edu 37 1 203192374 203192374 + Missense_Mutation SNP G G A TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr1:203192374G>A ENST00000367229.1 - 6 528 c.494C>T c.(493-495)gCc>gTc p.A165V CHIT1_ENST00000535569.1_Missense_Mutation_p.A156V|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Missense_Mutation_p.A146V NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 165 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 CTGCTGGAAGGCATTGGCCAA 0.597000 43 234 0 0 1 0 0 CIDECP 152302 broad.mit.edu 37 3 10065426 10065426 + RNA SNP C C T rs6803517 by1000genomes TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr3:10065426C>T ENST00000432401.1 - 0 322 GTGGGTGCCTCGTCCCCTGCA 0.502000 7 104 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38899691 38899691 + Silent SNP G G A rs112903128 byFrequency TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr6:38899691G>A ENST00000359357.3 + 74 10982 c.10728G>A c.(10726-10728)acG>acA p.T3576T DNAH8_ENST00000441566.1_Silent_p.T3540T|RP1-207H1.3_ENST00000453417.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Silent_p.T3793T dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ATGCTAAAACGTCAGTCATTG 0.358000 5 105 0 0 1 0 0 CIDECP 152302 broad.mit.edu 37 3 10059664 10059664 + RNA SNP T T C rs73017232 by1000genomes TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr3:10059664T>C ENST00000432401.1 - 0 505 GCCCGTCCTCTGTGGCATCGA 0.607000 10 123 0 0 1 0 0 TMEM259 91304 broad.mit.edu 37 19 1014372 1014372 + Missense_Mutation SNP C C T TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr19:1014372C>T ENST00000356663.3 - 2 447 c.326G>A c.(325-327)gGc>gAc p.G109D TMEM259_ENST00000333175.5_Missense_Mutation_p.G109D NM_001033026.1 NP_001028198.1 transmembrane protein 259 ACGCAGGATGCCCTCACGCGG 0.657000 15 52 0 0 1 0 0 SOGA3 387104 broad.mit.edu 37 6 127836123 127836123 + Nonsense_Mutation SNP G G A TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr6:127836123G>A ENST00000556132.1 - 3 2035 c.1171C>T c.(1171-1173)Caa>Taa p.Q391* SOGA3_ENST00000368268.2_Nonsense_Mutation_p.Q391*|SOGA3_ENST00000465909.2_Nonsense_Mutation_p.Q391*|SOGA3_ENST00000481848.2_Nonsense_Mutation_p.Q391*|SOGA3_ENST00000525778.1_Nonsense_Mutation_p.Q391* NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 391 integral to membrane TCCTGCAGTTGACAGGCATCC 0.572000 69 229 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43992666 43992667 + Frame_Shift_Ins INS - - A TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr2:43992666_43992667insA ENST00000282406.4 + 30 4521_4522 c.4411_4412insA c.(4411-4413)agcfs p.S1471fs NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 1471 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CCGGGGACCCCAAGCCAGAATG 0.540 7 108 --- --- --- --- ZNF876P 642280 broad.mit.edu 37 4 212236 212236 + RNA DEL A A - rs80061878 TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr4:212236delA ENST00000356347.3 + 0 172 NR_027481.1 ctaaaaatacaaaaaaaaaaa 0.493 3 3 --- --- --- --- FBXL5 26234 broad.mit.edu 37 4 15627468 15627469 + Frame_Shift_Ins INS - - A TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr4:15627468_15627469insA ENST00000341285.3 - 9 1380_1381 c.1256_1257insT c.(1255-1257)taafs p.*419fs FBXL5_ENST00000412094.2_Frame_Shift_Ins_p.*402fs|FBXL5_ENST00000382358.4_Frame_Shift_Ins_p.*293fs NM_001193534.1|NM_001193535.1|NM_012161.3 NP_001180463.1|NP_001180464.1|NP_036293.1 Q9UKA1 FBXL5_HUMAN F-box and leucine-rich repeat protein 5 419 iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|SCF ubiquitin ligase complex iron ion binding|protein binding|ubiquitin-protein ligase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 TAGATGTTTTCAAAAAGCCACT 0.406 9 113 --- --- --- --- PPP3CA 5530 broad.mit.edu 37 4 102014998 102014998 + Frame_Shift_Del DEL A A - TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr4:102014998delA ENST00000394854.3 - 6 1400 c.717delT c.(715-717)ttfs p.F239fs PPP3CA_ENST00000323055.6_Frame_Shift_Del_p.F239fs|PPP3CA_ENST00000523694.2_Frame_Shift_Del_p.F172fs|PPP3CA_ENST00000394853.4_Frame_Shift_Del_p.F239fs|PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000507176.1_Frame_Shift_Del_p.F141fs NM_000944.4 NP_000935.1 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha isozyme 239 Catalytic. protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) TCTCATTTCCAAAATCTTCCA 0.428 30 70 --- --- --- --- DLC1 10395 broad.mit.edu 37 8 12957364 12957365 + Frame_Shift_Ins INS - - G TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr8:12957364_12957365insG ENST00000276297.4 - 9 2890_2891 c.2481_2482insC c.(2479-2484)ttccccfs p.FP827fs DLC1_ENST00000512044.2_Frame_Shift_Ins_p.FP424fs|DLC1_ENST00000520226.1_Frame_Shift_Ins_p.FP316fs|DLC1_ENST00000358919.2_Frame_Shift_Ins_p.FP390fs NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 827 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 CCCGAGGGGGAGAAACTGCCAT 0.564 41 151 --- --- --- --- DUSP8 1850 broad.mit.edu 37 11 1577819 1577820 + Frame_Shift_Del DEL CG CG - rs61747093 TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr11:1577819_1577820delCG ENST00000397374.3 - 7 1933_1934 c.1806_1807delCG c.(1804-1809)cggcfs p.RG602fs DUSP8_ENST00000331588.4_Frame_Shift_Del_p.RG602fs NM_004420.2 NP_004411.2 Q13202 DUS8_HUMAN dual specificity phosphatase 8 602 inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) AGCTCCTCGCCGCGCGCGCGCC 0.752 2 4 --- --- --- --- OR4N4 283694 broad.mit.edu 37 15 22382920 22382921 + Frame_Shift_Ins INS - - T TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr15:22382920_22382921insT ENST00000328795.4 + 1 539_540 c.448_449insT c.(448-450)tggfs p.W150fs RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GGCTCTGTGGCTTGGGGGTTTT 0.535 50 396 --- --- --- --- NPIPB11 728888 broad.mit.edu 37 16 29394767 29394769 + In_Frame_Del DEL TAT TAT - TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr16:29394767_29394769delTAT ENST00000524087.1 - 8 1558_1560 c.1484_1486delATA c.(1483-1488)atc>a p.NI495del SNX29P2_ENST00000398878.3_lincRNA nuclear pore complex interacting protein family, member B11 GGTGTCTTGATATTATCATCTGC 0.586 4 7 --- --- --- --- MYLK3 91807 broad.mit.edu 37 16 46744687 46744688 + Frame_Shift_Ins INS - - A rs150139689 by1000genomes TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ee73203-915b-497a-ade3-e807c719f673 60feb767-90be-4110-adbd-c922debce609 g.chr16:46744687_46744688insA ENST00000394809.4 - 11 2243_2244 c.2128_2129insT c.(2128-2130)cccfs p.P710fs MYLK3_ENST00000562104.1_5'UTR|MYLK3_ENST00000536476.1_Frame_Shift_Ins_p.P369fs NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 710 Protein kinase. cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TAGAAATGGGGACAAGCCACTG 0.470 8 446 --- --- --- ---