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 NYNRIN 57523 broad.mit.edu 37 14 24884570 24884570 + Silent SNP G G A TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr14:24884570G>A ENST00000382554.3 + 9 3933 c.3615G>A c.(3613-3615)ggG>ggA p.G1205G NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1205 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 CCCAGTCAGGGGGTGACAGCC 0.622000 10 76 0 0 1 0 0 NMUR2 56923 broad.mit.edu 37 5 151772005 151772005 + Missense_Mutation SNP C C T TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr5:151772005C>T ENST00000255262.3 - 4 1160 c.995G>A c.(994-996)cGc>cAc p.R332H NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 332 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) CTGGAAGCGGCGAGACAGTAG 0.493000 7 114 0 0 1 0 0 FOXQ1 94234 broad.mit.edu 37 6 1313285 1313285 + Missense_Mutation SNP C C T TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr6:1313285C>T ENST00000296839.2 + 1 611 c.346C>T c.(346-348)Cgg>Tgg p.R116W NM_033260.3 NP_150285.3 Q9C009 FOXQ1_HUMAN forkhead box Q1 116 DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding lung(1)|urinary_tract(1) 2 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) GCCATATACGCGGCGGCCCAA 0.746000 7 38 0 0 1 0 0 RUFY3 22902 broad.mit.edu 37 4 71588247 71588247 + Translation_Start_Site SNP T T A TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr4:71588247T>A ENST00000226328.4 + 0 520 RUFY3_ENST00000381006.3_De_novo_Start_OutOfFrame|RUFY3_ENST00000417478.2_Intron NM_014961.3 NP_055776.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) tgtgtgtgagtgtgtgtgtgt 0.478000 4 35 0 0 1 0 0 SLC1A6 6511 broad.mit.edu 37 19 15073150 15073150 + Missense_Mutation SNP G G A TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr19:15073150G>A ENST00000598504.1 - 8 1958 c.599C>T c.(598-600)aCg>aTg p.T200M SLC1A6_ENST00000600144.1_Missense_Mutation_p.T200M|SLC1A6_ENST00000544886.2_Missense_Mutation_p.T200M|SLC1A6_ENST00000430939.2_Missense_Mutation_p.T136M|SLC1A6_ENST00000221742.3_Missense_Mutation_p.T200M NM_001272087.1 NP_001259016.1 P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 200 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) GCTGTACTGCGTCTTGAACTG 0.532000 15 88 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128490958 128490958 + Missense_Mutation SNP C C T TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr7:128490958C>T ENST00000325888.8 + 33 5761 c.5500C>T c.(5500-5502)Cac>Tac p.H1834Y RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.H1801Y NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1834 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GAAAGGCCTGCACCAGATGGG 0.617000 16 173 0 0 1 0 0 PIGG 54872 broad.mit.edu 37 4 527753 527753 + Silent SNP G G A TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr4:527753G>A ENST00000453061.2 + 12 2824 c.2718G>A c.(2716-2718)ctG>ctA p.L906L PIGG_ENST00000383028.4_Silent_p.L773L|PIGG_ENST00000504346.1_Silent_p.L817L|PIGG_ENST00000310340.5_Silent_p.L898L|PIGG_ENST00000296306.7_3'UTR NM_001127178.1 NP_001120650.1 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 906 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 TGCACTTCCTGAGCTCAGAAA 0.597000 4 47 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152732631 152732631 + Missense_Mutation SNP C C A TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr1:152732631C>A ENST00000368773.1 + 2 625 c.567C>A c.(565-567)agC>agA p.S189R KPRP_ENST00000606109.1_Missense_Mutation_p.S189R NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 189 Gln-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCTCCTATAGCAGTTGTGGCC 0.562000 5 122 0.00116845 0.00126789 1 1 0 PYCARD 29108 broad.mit.edu 37 16 31213046 31213046 + Missense_Mutation SNP G G A TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr16:31213046G>A ENST00000247470.9 - 3 749 c.448C>T c.(448-450)Cgg>Tgg p.R150W PYCARD_ENST00000350605.4_Missense_Mutation_p.R131W NM_013258.4 NP_037390.2 Q9ULZ3 ASC_HUMAN PYD and CARD domain containing 150 CARD. induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway IkappaB kinase complex caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding NS(1)|kidney(1) 2 GGCTCGGCCCGCACTGCCTGG 0.607000 4 107 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151123279 151123279 + Missense_Mutation SNP C C T rs80186670 byFrequency TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chrX:151123279C>T ENST00000370328.3 - 9 1468 c.1415G>A c.(1414-1416)cGc>cAc p.R472H GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR NM_004961.3 NP_004952.2 P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 472 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.R359H(1)|p.R472H(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GATGCAGAGGCGGCCCTGCTG 0.522000 6 74 0 0 1 0 0 C4BPA 722 broad.mit.edu 37 1 207297690 207297690 + Missense_Mutation SNP C C A TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr1:207297690C>A ENST00000367070.3 + 6 879 c.685C>A c.(685-687)Cca>Aca p.P229T NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 229 Sushi 3. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 TGTTTGGAGACCAAGCCCTCC 0.428000 10 43 1.5842e-08 1.79543e-08 1 1 0 MT-ND5 4540 broad.mit.edu 37 MT 14000 14000 + Missense_Mutation SNP T T C TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chrM:14000T>C ENST00000361567.2 + 1 1664 c.1664T>C c.(1663-1665)cTa>cCa p.L555P P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 555 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) CCTCCTAGACCTAACCTGACT 0.438000 21 248 0 0 1 0 0 RRAS 6237 broad.mit.edu 37 19 50140129 50140129 + Missense_Mutation SNP C C T TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr19:50140129C>T ENST00000246792.3 - 3 398 c.296G>A c.(295-297)cGt>cAt p.R99H NM_006270.3 NP_006261.1 P10301 RRAS_HUMAN related RAS viral (r-ras) oncogene homolog 99 axon guidance|Ras protein signal transduction|synaptic transmission intracellular|plasma membrane GDP binding|GTP binding|GTPase activity|protein binding endometrium(1)|kidney(1)|lung(2)|ovary(2) 6 OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206) GTGGCCAGCACGCATGTACTG 0.667000 15 131 0 0 1 0 0 ZNF681 148213 broad.mit.edu 37 19 23926839 23926839 + Missense_Mutation SNP A A G TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr19:23926839A>G ENST00000402377.3 - 4 1654 c.1513T>C c.(1513-1515)Tcc>Ccc p.S505P ZNF681_ENST00000395385.3_Missense_Mutation_p.S436P NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 505 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) CATTTGTAGGATTTCTCTCCA 0.373000 3 30 0 0 1 0 0 MRS2 57380 broad.mit.edu 37 6 24412567 24412567 + Missense_Mutation SNP G G A TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr6:24412567G>A ENST00000378386.3 + 5 625 c.532G>A c.(532-534)Gtt>Att p.V178I MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000443868.2_Missense_Mutation_p.V181I|MRS2_ENST00000535061.1_Missense_Mutation_p.V128I|MRS2_ENST00000483634.1_3'UTR|MRS2_ENST00000378353.1_Missense_Mutation_p.V178I NM_020662.2 NP_065713.1 Q9HD23 MRS2_HUMAN MRS2 magnesium transporter 178 ion transport integral to membrane|mitochondrial inner membrane p.V178I(1) breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 GGGTCAACTCGTTACATACCC 0.388000 7 83 0 0 1 0 0 RTN4R 65078 broad.mit.edu 37 22 20229976 20229976 + Missense_Mutation SNP C C T rs139685891 TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr22:20229976C>T ENST00000043402.7 - 2 1118 c.680G>A c.(679-681)cGc>cAc p.R227H NM_023004.5 NP_075380.1 Q9BZR6 RTN4R_HUMAN reticulon 4 receptor 227 axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane protein binding|receptor activity lung(1)|ovary(1)|prostate(1) 3 Colorectal(54;0.0993) TGTCATGAGGCGGCCAAGGTC 0.642000 6 69 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2027640 2027640 + Splice_Site SNP G G A TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr8:2027640G>A ENST00000262113.4 + 13 1603 c.e13-1 MYOM2_ENST00000523438.1_Intron NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TCTCTCCGCAGCCGTTCATTT 0.512000 43 293 0 0 1 0 0 GIPC3 126326 broad.mit.edu 37 19 3589459 3589459 + Missense_Mutation SNP G G T TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr19:3589459G>T ENST00000322315.5 + 4 656 c.611G>T c.(610-612)aGt>aTt p.S204I NM_133261.2 NP_573568.1 Q8TF64 GIPC3_HUMAN GIPC PDZ domain containing family, member 3 204 breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) GGCCAGAGAAGTCGGTCCAGC 0.597000 4 72 0.0215528 0.0228998 1 1 0 SNRNP200 23020 broad.mit.edu 37 2 96970469 96970469 + Silent SNP C C T TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr2:96970469C>T ENST00000323853.5 - 2 260 c.183G>A c.(181-183)ccG>ccA p.P61P SNRNP200_ENST00000349783.5_Silent_p.P61P NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 61 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 CCTGCATCTGCGGTTTGGTCC 0.527000 5 96 0 0 1 0 0 ASXL1 171023 broad.mit.edu 37 20 31023107 31023107 + Silent SNP C C T rs147278940 by1000genomes TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr20:31023107C>T ENST00000375687.4 + 13 3016 c.2592C>T c.(2590-2592)gaC>gaT p.D864D ASXL1_ENST00000306058.5_Silent_p.D859D NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 864 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 CATTTGATGACGAATTAGGGC 0.458000 """F, N, Mis""" """MDS, CMML""" 5 229 0 0 1 0 0 OPN4 94233 broad.mit.edu 37 10 88418311 88418311 + Silent SNP C C T TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr10:88418311C>T ENST00000372071.2 + 5 755 c.528C>T c.(526-528)gcC>gcT p.A176A OPN4_ENST00000241891.5_Silent_p.A165A NM_001030015.2 NP_001025186.1 Q9UHM6 OPN4_HUMAN opsin 4 165 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3) 18 CGGCCATCGCCCTGGACCGCT 0.612000 8 62 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186055385 186055385 + Silent SNP A A T TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr1:186055385A>T ENST00000271588.4 + 58 9121 c.8892A>T c.(8890-8892)ccA>ccT p.P2964P HMCN1_ENST00000367492.2_Silent_p.P2964P NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2964 Ig-like C2-type 28. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TAGTTCCTCCAAGTGTCATTG 0.368000 8 47 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 3 17 0 0 1 0 0 ATP4A 495 broad.mit.edu 37 19 36046172 36046172 + Missense_Mutation SNP A A T TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr19:36046172A>T ENST00000262623.3 - 15 2250 c.2222T>A c.(2221-2223)aTc>aAc p.I741N NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 741 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) GGCTACTCCGATGTCTGCCTT 0.587000 11 61 0 0 1 0 0 SEPT6 23157 broad.mit.edu 37 X 118774683 118774683 + Silent SNP C C T rs143382025 TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chrX:118774683C>T ENST00000394610.1 - 6 1023 c.759G>A c.(757-759)gcG>gcA p.A253A SEPT6_ENST00000394616.4_Silent_p.A195A|SEPT6_ENST00000394617.2_Silent_p.A283A|SEPT6_ENST00000343984.5_Silent_p.A253A|SEPT6_ENST00000360156.7_Silent_p.A253A|SEPT6_ENST00000354416.3_Silent_p.A253A|SEPT6_ENST00000354228.4_Silent_p.A253A|SEPT6_ENST00000489216.1_Silent_p.A253A NM_145799.3 NP_665798.1 Q14141 SEPT6_HUMAN septin 6 253 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding p.A253A(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 GATACTGCCGCGCCCTCATCA 0.547000 T MLL AML 17 128 0 0 1 0 0 FBXO24 26261 broad.mit.edu 37 7 100187922 100187922 + Silent SNP G G A TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr7:100187922G>A ENST00000241071.6 + 3 586 c.264G>A c.(262-264)ccG>ccA p.P88P FBXO24_ENST00000465843.1_Silent_p.P88P|FBXO24_ENST00000468962.1_Silent_p.P76P|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Silent_p.P88P|FBXO24_ENST00000427939.2_Silent_p.P126P|FBXO24_ENST00000498195.1_3'UTR NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 88 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GACTCAGTCCGCGCCTCCAAG 0.602000 9 39 0 0 1 0 0 ADH1A 124 broad.mit.edu 37 4 100208046 100208046 + Missense_Mutation SNP C C T rs141454408 TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr4:100208046C>T ENST00000209668.2 - 3 333 c.220G>A c.(220-222)Gtg>Atg p.V74M RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR NM_000667.3 NP_000658.1 P07327 ADH1A_HUMAN alcohol dehydrogenase 1A (class I), alpha polypeptide 74 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) ACACTCTCCACGATGCCGGCT 0.507000 18 200 0 0 1 0 0 C3orf30 152405 broad.mit.edu 37 3 118865808 118865808 + Missense_Mutation SNP A A G TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr3:118865808A>G ENST00000295622.1 + 1 812 c.772A>G c.(772-774)Att>Gtt p.I258V NM_152539.2 NP_689752.2 Q96M34 CC030_HUMAN chromosome 3 open reading frame 30 258 NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) TTCCGTACAGATTGACCGCAG 0.502000 5 62 0 0 1 0 0 FARP2 9855 broad.mit.edu 37 2 242432832 242432832 + Missense_Mutation SNP G G A TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr2:242432832G>A ENST00000264042.3 + 26 3190 c.3020G>A c.(3019-3021)cGg>cAg p.R1007Q STK25_ENST00000316586.4_3'UTR NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 1007 PH 2. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity p.R1007Q(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) TACTTCTTCCGGGCTGAGAGC 0.527000 5 49 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15791263 15791263 + Silent SNP C C T TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr19:15791263C>T ENST00000550308.1 + 5 839 c.459C>T c.(457-459)ccC>ccT p.P153P CYP4F12_ENST00000324632.9_Silent_p.P153P NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) TGCTGACGCCCGCCTTCCATT 0.537000 5 33 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 274929 274929 + Silent SNP C C T TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr12:274929C>T ENST00000538872.1 + 11 2962 c.2844C>T c.(2842-2844)ctC>ctT p.L948L RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000382841.2_Silent_p.L645L|IQSEC3_ENST00000326261.4_Silent_p.L948L Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 948 PH. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 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) TGACCCCGCTCTCGGGCTCCG 0.612000 4 51 0 0 1 0 0 SGK494 0 broad.mit.edu 37 17 26939672 26939672 + Missense_Mutation SNP C C T TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr17:26939672C>T ENST00000301037.5 - 5 510 c.511G>A c.(511-513)Ggg>Agg p.G171R SGK494_ENST00000469832.3_5'UTR|SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000534850.1_Intron|SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.4_ENST00000577790.1_Intron NM_001174103.1 NP_001167574.1 CAGCTGTCCCCCAAGCTGTGT 0.488000 9 50 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152280001 152280001 + Missense_Mutation SNP G G C TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr1:152280001G>C ENST00000368799.1 - 3 7396 c.7361C>G c.(7360-7362)aCg>aGg p.T2454R FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2454 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTTGGGACGTTGAGTGCCT 0.582000 Ichthyosis 15 472 0 0 1 0 0 C10orf12 26148 broad.mit.edu 37 10 98742401 98742401 + Missense_Mutation SNP C C A TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr10:98742401C>A ENST00000286067.2 + 1 1361 c.1254C>A c.(1252-1254)agC>agA p.S418R NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 418 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) ACAACCAAAGCATCAGTGCTG 0.498000 4 136 0.27861 0.27861 1 1 0 IPO7 10527 broad.mit.edu 37 11 9459665 9459665 + Missense_Mutation SNP C C G TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr11:9459665C>G ENST00000379719.3 + 22 2670 c.2528C>G c.(2527-2529)gCt>gGt p.A843G NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 843 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) GGACTCTGTGCTCTTATTGAT 0.308000 5 89 0 0 1 0 0 MAP7D3 79649 broad.mit.edu 37 X 135313712 135313712 + Silent SNP G G A TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chrX:135313712G>A ENST00000316077.9 - 8 1624 c.1404C>T c.(1402-1404)gaC>gaT p.D468D MAP7D3_ENST00000370661.1_Silent_p.D433D|MAP7D3_ENST00000370663.5_Silent_p.D450D NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 468 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) CCTTTGGAGCGTCTCTCGCTT 0.423000 4 136 0 0 1 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629469 9629469 + Missense_Mutation SNP C C T rs145804099 TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr5:9629469C>T ENST00000382492.2 - 1 994 c.676G>A c.(676-678)Gcg>Acg p.A226T CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 226 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity p.A226S(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 GACAGCAACGCGCTGATGGGT 0.498000 7 50 0 0 1 0 0 GPRASP1 9737 broad.mit.edu 37 X 101912054 101912054 + Silent SNP G G A TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chrX:101912054G>A ENST00000537097.1 + 6 4026 c.3213G>A c.(3211-3213)ccG>ccA p.P1071P GPRASP1_ENST00000444152.1_Silent_p.P1071P|GPRASP1_ENST00000361600.5_Silent_p.P1071P|GPRASP1_ENST00000415986.1_Silent_p.P1071P|RP4-769N13.7_ENST00000602441.1_RNA NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 1071 OPRD1-binding. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TTAGATTTCCGAAAGAGGCAG 0.512000 20 132 0 0 1 0 0 RFX4 5992 broad.mit.edu 37 12 107090062 107090062 + Splice_Site SNP T T G TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr12:107090062T>G ENST00000392842.1 + 8 1085 c.669_splice c.e8-1 p.V224_splice RFX4_ENST00000229387.5_Splice_Site_p.V130_splice|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Splice_Site_p.V233_splice NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 224 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 TCAATACAGGTTCAAAGTTTC 0.552000 13 62 0 0 1 0 0 IGKV3-20 0 broad.mit.edu 37 2 89442331 89442331 + RNA SNP G G A TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr2:89442331G>A ENST00000492167.1 - 0 125 TGGAGACTGCGTCAACACAAT 0.493000 10 86 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55233043 55233043 + Missense_Mutation SNP G G T rs139236063 TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr7:55233043G>T ENST00000275493.2 + 15 1970 c.1793G>T c.(1792-1794)gGa>gTa p.G598V EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 598 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.G598V(15) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TGCCCGGCAGGAGTCATGGGA 0.567000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 176 127 1.06226e-90 1.23126e-90 1 1 0 SLC22A16 85413 broad.mit.edu 37 6 110778136 110778136 + Silent SNP G G A TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr6:110778136G>A ENST00000368919.3 - 2 204 c.138C>T c.(136-138)gtC>gtT p.V46V SLC22A16_ENST00000439654.1_Silent_p.V46V|SLC22A16_ENST00000330550.4_Silent_p.V44V|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000456137.2_Silent_p.V46V NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 46 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) GATGAGGGGTGACTCCCATGA 0.473000 6 37 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34640382 34640382 + Missense_Mutation SNP G G A TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr15:34640382G>A ENST00000537011.1 + 3 695 c.313G>A c.(313-315)Ggc>Agc p.G105S NUTM1_ENST00000438749.3_Missense_Mutation_p.G95S|NUTM1_ENST00000333756.4_Missense_Mutation_p.G77S NUT midline carcinoma, family member 1 AGGGGATGGGGGCCCTTGCCT 0.562000 6 131 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39900289 39900289 + Silent SNP A A G TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr1:39900289A>G ENST00000564288.1 + 69 18546 c.17769A>G c.(17767-17769)caA>caG p.Q5923Q MACF1_ENST00000539005.1_Silent_p.Q3731Q|MACF1_ENST00000545844.1_Silent_p.Q3861Q|MACF1_ENST00000567887.1_Silent_p.Q5960Q|MACF1_ENST00000289893.4_Silent_p.Q4363Q|MACF1_ENST00000361689.2_Silent_p.Q3861Q|MACF1_ENST00000317713.7_Silent_p.Q3861Q|MACF1_ENST00000372915.3_Silent_p.Q5819Q Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 5920 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TCAGGCAGCAACAAGAGGAAA 0.413000 3 58 0 0 1 0 0 AC096559.1 0 broad.mit.edu 37 2 12302757 12302758 + RNA DEL CA CA - TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr2:12302757_12302758delCA ENST00000412294.1 + 0 197 acacacacatcacacacacaca 0.470 2 4 --- --- --- --- AC013402.3 0 broad.mit.edu 37 2 105201607 105201608 + RNA INS - - G rs144696072 by1000genomes TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr2:105201607_105201608insG ENST00000438566.1 + 0 246_247 CTGAGAAATCAGATCCCCAGGG 0.431 4 2 --- --- --- --- AC093415.2 0 broad.mit.edu 37 3 37867877 37867878 + RNA INS - - C rs147003397 by1000genomes TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr3:37867877_37867878insC ENST00000366441.2 - 0 154 AC093415.2_ENST00000420870.1_RNA|AC093415.2_ENST00000450990.1_RNA|AC093415.2_ENST00000445429.1_RNA|AC093415.2_ENST00000438136.1_RNA|AC093415.2_ENST00000457661.1_RNA|AC093415.2_ENST00000594579.1_RNA|AC093415.2_ENST00000430620.1_RNA|AC093415.2_ENST00000429532.1_RNA CTCCTTTGTGTCCCCACCCTCA 0.421 4 2 --- --- --- --- CTD-2185K10.1 0 broad.mit.edu 37 3 59080618 59080619 + RNA INS - - A TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr3:59080618_59080619insA ENST00000487624.1 + 0 117 cacacacacgccacgcagacac 0.391 2 4 --- --- --- --- CTC-436P18.1 0 broad.mit.edu 37 5 60525985 60525985 + RNA DEL C C - TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr5:60525985delC ENST00000506902.1 + 0 668 GCCACCCTCTCCCCTCTCCTC 0.532 2 4 --- --- --- --- CTC-281M20.1 0 broad.mit.edu 37 5 174357184 174357184 + RNA DEL T T - TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr5:174357184delT ENST00000377300.3 - 0 1281 NR_046113.1 tccttccttcttttttttgat 0.488 2 4 --- --- --- --- RP11-239H6.2 0 broad.mit.edu 37 6 20226586 20226589 + RNA DEL TCTA TCTA - TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr6:20226586_20226589delTCTA ENST00000449143.2 + 0 91 tgtctgtctgtctatctatctatc 0.436 2 4 --- --- --- --- SRF 6722 broad.mit.edu 37 6 43139485 43139487 + In_Frame_Del DEL GGC GGC - TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr6:43139485_43139487delGGC ENST00000265354.4 + 1 449_451 c.91_93delGGC c.(91-93)del p.G35del NM_003131.2 NP_003122.1 P11831 SRF_HUMAN serum response factor (c-fos serum response element-binding transcription factor) 35 Gly-rich. angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation endoplasmic reticulum protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 12 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) ggggcggccgggcggcggcggcg 0.818 4 7 --- --- --- --- CTA-212D2.2 0 broad.mit.edu 37 6 135376554 135376554 + RNA DEL C C - TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr6:135376554delC ENST00000447508.1 + 0 384 gtgggaggatcccctgagccc 0.547 2 4 --- --- --- --- RP3-428L16.1 0 broad.mit.edu 37 6 161376390 161376390 + RNA DEL A A - TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr6:161376390delA ENST00000417479.1 + 0 293 ttgactcggtaaaatatgcgt 0.433 2 4 --- --- --- --- RP11-27P7.1 0 broad.mit.edu 37 8 60974592 60974592 + RNA DEL G G - TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr8:60974592delG ENST00000531077.1 + 0 311 TCCCCAGACTGCCACAAACCT 0.393 2 4 --- --- --- --- RP11-257P3.3 0 broad.mit.edu 37 8 82437068 82437069 + RNA INS - - TAT rs144811193 by1000genomes TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr8:82437068_82437069insTAT ENST00000523380.1 + 0 200 RP11-257P3.3_ENST00000518637.1_RNA CTCTCTGAAAATATCCCAGCCT 0.371 2 4 --- --- --- --- KB-1615E4.2 0 broad.mit.edu 37 8 101500755 101500755 + RNA DEL C C - TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr8:101500755delC ENST00000523831.1 + 0 147 AGGGAGGGGACCCATGGGCTG 0.517 2 4 --- --- --- --- KB-1507C5.4 0 broad.mit.edu 37 8 104000951 104000952 + RNA DEL CC CC - TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr8:104000951_104000952delCC ENST00000517983.1 + 0 171 aacagcctggccaacatggcaa 0.525 2 4 --- --- --- --- RP11-834C11.3 0 broad.mit.edu 37 12 54499109 54499110 + RNA INS - - A TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr12:54499109_54499110insA ENST00000515617.1 + 0 311 NR_026655.1 cccatctctacaaaaaaagcaa 0.510 6 1 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 2 4 --- --- --- --- RP11-1113L8.1 0 broad.mit.edu 37 17 19485934 19485935 + RNA INS - - T TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr17:19485934_19485935insT ENST00000574267.1 - 0 26 AC025627.7_ENST00000420951.1_RNA ATGTGCCATGGTAGAAGGTGAA 0.530 2 4 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 5 1 --- --- --- --- LRRC37A11P 0 broad.mit.edu 37 17 37201989 37201989 + RNA DEL T T - TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr17:37201989delT ENST00000425901.2 + 0 3239 NR_033753.2 catgactgcatttttttggca 0.512 2 4 --- --- --- --- RP11-1018N14.2 0 broad.mit.edu 37 17 49414077 49414078 + RNA DEL CT CT - rs3029085 TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr17:49414077_49414078delCT ENST00000441895.2 + 0 2_3 gcacgaggcactctctgccctt 0.510 5 2 --- --- --- --- RP11-567L7.6 0 broad.mit.edu 37 17 57556551 57556551 + RNA DEL C C - TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr17:57556551delC ENST00000584262.1 - 0 583 TCTTCCATCTCTGTGTCACTC 0.493 2 4 --- --- --- --- LINC00229 0 broad.mit.edu 37 22 45015467 45015468 + RNA INS - - GT TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chr22:45015467_45015468insGT ENST00000443783.1 - 0 390 NR_044991.1 tgtactgtggagtgtgtgtgtg 0.540 2 4 --- --- --- --- RP11-87M18.2 0 broad.mit.edu 37 X 36430212 36430213 + RNA INS - - T TCGA-DU-8162-01A-21D-2253-08 TCGA-DU-8162-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 337b4f73-2891-4f94-a24e-a6022bc871da a92ca991-440e-4646-826f-2db2b4734fb2 g.chrX:36430212_36430213insT ENST00000455438.1 - 0 4404 TTTATGTGCTGTTTTTTTCAGG 0.361 2 4 --- --- --- ---