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 MRGPRX1 259249 broad.mit.edu 37 11 18956323 18956323 + Silent SNP T T A TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr11:18956323T>A ENST00000302797.3 - 1 233 c.9A>T c.(7-9)ccA>ccT p.P3P MRGPRX1_ENST00000526914.1_5'UTR NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 3 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TTGAGATGGTTGGATCCATGC 0.517000 60 114 0 0 0.014410 0 0 ADAM12 8038 broad.mit.edu 37 10 127737869 127737869 + Missense_Mutation SNP G G A TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr10:127737869G>A ENST00000368679.4 - 16 2188 c.1879C>T c.(1879-1881)Ccg>Tcg p.P627S ADAM12_ENST00000368676.4_Missense_Mutation_p.P627S NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 627 Cys-rich. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CCTGGGTCCGGCATGTCATCG 0.527000 5 239 0 0 0.014758 0 0 RBM7 10179 broad.mit.edu 37 11 114271421 114271421 + Missense_Mutation SNP C C T TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr11:114271421C>T ENST00000541475.1 + 1 93 c.28C>T c.(28-30)Cgc>Tgc p.R10C RP11-212D19.4_ENST00000544347.1_Silent_p.I6I|RBM7_ENST00000540163.1_Missense_Mutation_p.R10C|RBM7_ENST00000375490.5_Missense_Mutation_p.R10C|RBM7_ENST00000545678.1_5'UTR|RBM7_ENST00000544582.1_Missense_Mutation_p.R10C Q9Y580 RBM7_HUMAN RNA binding motif protein 7 10 RRM. meiosis nucleotide binding|protein binding|RNA binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104) BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348) GGAAGCGGATCGCACTCTCTT 0.627000 23 51 0 0 0.021523 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr1:115256530G>T ENST00000369535.4 - 3 434 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 55 103 4.33383e-22 7.36752e-22 0.014410 1 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 5 36 0 0 0.021553 0 0 OTUD4 54726 broad.mit.edu 37 4 146059041 146059041 + Silent SNP A A G TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr4:146059041A>G ENST00000454497.2 - 21 2828 c.2691T>C c.(2689-2691)caT>caC p.H897H OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.H962H NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 961 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GAGTGGGAGGATGAGCCTTTC 0.478000 3 136 0 0 0.004672 0 0 AC093642.5 0 broad.mit.edu 37 2 243061143 243061143 + RNA SNP A A G rs117509304 by1000genomes TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr2:243061143A>G ENST00000456398.1 + 0 491 CTTGGGAGAAACCTTTAATCG 0.358000 4 74 0 0 0.009096 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72202102 72202102 + Missense_Mutation SNP A A G TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr14:72202102A>G ENST00000555818.1 + 20 5528 c.5180A>G c.(5179-5181)tAc>tGc p.Y1727C SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.Y1706C|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.Y1181C|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.Y1706C NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1727 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ATGAAGCCTTACAGCAGGTTG 0.542000 9 79 0 0 0.004482 0 0 FRAS1 80144 broad.mit.edu 37 4 79360116 79360116 + Silent SNP C C G TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr4:79360116C>G ENST00000264895.6 + 40 5867 c.5427C>G c.(5425-5427)gtC>gtG p.V1809V FRAS1_ENST00000325942.6_Silent_p.V1809V NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1808 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ATTTCTCTGTCTCTGACATGG 0.378000 52 94 0 0 0.014410 0 0 POLR1B 84172 broad.mit.edu 37 2 113332950 113332950 + Nonsense_Mutation SNP C C T TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr2:113332950C>T ENST00000263331.5 + 15 3632 c.3052C>T c.(3052-3054)Cga>Tga p.R1018* POLR1B_ENST00000417433.2_Nonsense_Mutation_p.R962*|POLR1B_ENST00000409894.3_Nonsense_Mutation_p.R835*|POLR1B_ENST00000541869.1_Nonsense_Mutation_p.R1056*|POLR1B_ENST00000537335.1_Nonsense_Mutation_p.R807* NM_019014.4 NP_061887.2 Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa 1018 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 AACTGGAGCCCGAGACAGAGT 0.488000 25 48 0 0 0.016522 0 0 SPRYD4 283377 broad.mit.edu 37 12 56862411 56862411 + Silent SNP C C T TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr12:56862411C>T ENST00000338146.5 + 1 111 c.36C>T c.(34-36)tgC>tgT p.C12C MIP_ENST00000555551.1_Intron NM_207344.3 NP_997227.1 Q8WW59 SPRY4_HUMAN SPRY domain containing 4 12 B30.2/SPRY. nucleus kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1) 7 TGCGCTTGTGCCGCTGGGGAG 0.567000 4 112 0 0 0.014758 0 0 YEATS2 55689 broad.mit.edu 37 3 183472085 183472085 + Missense_Mutation SNP A A G TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr3:183472085A>G ENST00000305135.5 + 11 1517 c.1322A>G c.(1321-1323)cAg>cGg p.Q441R NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 441 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CCACAAAGTCAGGTTCCTAAT 0.448000 3 61 0 0 0.009096 0 0 DNM1P46 0 broad.mit.edu 37 15 100340438 100340438 + RNA SNP C C T TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr15:100340438C>T ENST00000341853.1 - 0 488 NR_003260.1 GACAGCAGCTCCGAGAAGATG 0.622000 6 10 0 0 0.021553 0 0 CELSR3 1951 broad.mit.edu 37 3 48699285 48699285 + Silent SNP T T G TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr3:48699285T>G ENST00000544264.1 - 1 1063 c.783A>C c.(781-783)gcA>gcC p.A261A CELSR3_ENST00000164024.4_Silent_p.A261A Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 261 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ACTCGCGGGGTGCTGAACCTG 0.726000 7 52 0 0 0.013537 0 0 FRG1B 0 broad.mit.edu 37 20 29633899 29633899 + Splice_Site SNP G G A TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr20:29633899G>A ENST00000278882.3 + 9 918 c.536_splice c.e9-1 p.E180_splice FRG1B_ENST00000358464.4_Splice_Site_p.E180_splice endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TTAAACAAGAGAACCAAATTG 0.269000 3 59 0 0 0.029380 0 0 ZNF480 147657 broad.mit.edu 37 19 52817523 52817523 + Missense_Mutation SNP G G T TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr19:52817523G>T ENST00000595962.1 + 3 256 c.190G>T c.(190-192)Gtc>Ttc p.V64F ZNF480_ENST00000335090.6_Intron|ZNF480_ENST00000490272.1_Intron|ZNF480_ENST00000334564.7_Missense_Mutation_p.V64F|CTD-2525I3.6_ENST00000594379.1_RNA NM_144684.2 NP_653285.2 Q8WV37 ZN480_HUMAN zinc finger protein 480 64 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) CAGGAACCTGGTCTCCCTGGG 0.542000 34 83 1.61788e-16 2.50036e-16 0.012213 1 0 PTBP2 58155 broad.mit.edu 37 1 97235421 97235422 + Frame_Shift_Ins INS - - A TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr1:97235421_97235422insA ENST00000236228.6 + 4 360_361 c.278_279insA c.(277-279)gaafs p.E93fs PTBP2_ENST00000394184.3_Frame_Shift_Ins_p.E104fs|PTBP2_ENST00000541987.1_Frame_Shift_Ins_p.E62fs|PTBP2_ENST00000426398.2_Frame_Shift_Ins_p.E93fs|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Frame_Shift_Ins_p.E93fs|PTBP2_ENST00000370197.1_Frame_Shift_Ins_p.E93fs NM_021190.2 NP_067013.1 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 93 RRM 1. nucleotide binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1) 26 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) ATGCTGAAAGGAAAAAATCAGG 0.356 24 56 --- --- --- --- PPIL6 285755 broad.mit.edu 37 6 109757309 109757309 + Frame_Shift_Del DEL T T - TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr6:109757309delT ENST00000521072.2 - 2 809 c.229delA c.(229-231)ggfs p.R77fs PPIL6_ENST00000424445.2_Intron|PPIL6_ENST00000440797.2_Frame_Shift_Del_p.R77fs NM_173672.4 NP_775943.1 Q8IXY8 PPIL6_HUMAN peptidylprolyl isomerase (cyclophilin)-like 6 77 protein folding peptidyl-prolyl cis-trans isomerase activity large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259) TCCTTTACCCTTTTTTTCTCC 0.338 7 150 --- --- --- --- TRBV29-1 0 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 4 6 --- --- --- --- RP13-726E6.2 0 broad.mit.edu 37 11 3552650 3552651 + RNA INS - - G rs34642454 TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr11:3552650_3552651insG ENST00000527970.1 - 0 285 CAGCACCCCATGGGGGGGCCCT 0.500 4 8 --- --- --- --- GRIN3B 116444 broad.mit.edu 37 19 1009186 1009188 + In_Frame_Del DEL AGC AGC - TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr19:1009186_1009188delAGC ENST00000234389.3 + 9 2736_2738 c.2717_2719delAGC c.(2716-2721)gag>g p.EQ906del NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 906 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) 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) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CCCGAGGTGGagcagcagcagca 0.744 4 7 --- --- --- --- RP5-1121H13.4 0 broad.mit.edu 37 20 40627647 40627649 + RNA DEL CTG CTG - TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr20:40627647_40627649delCTG ENST00000431589.1 + 0 131 CGCGGCCCGCCTGCTGCTGCTGC 0.714 2 4 --- --- --- ---