Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut UBR4 23352 broad.mit.edu 37 1 19451143 19451143 + Silent SNP T T G TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr1:19451143T>G uc001bbi.2 - 65 9484 c.9480A>C c.(9478-9480)CTA>CTC p.L3160L UBR4_uc001bbk.1_Silent_p.L807L NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3160 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CCATTTCTGTTAGAAGCTGAG 0.423 NA 14 44 0 0 0 0 LDHD 197257 broad.mit.edu 37 16 75146279 75146279 + Missense_Mutation SNP A A G TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr16:75146279A>G uc002fdm.2 - 11 1546 c.1499T>C c.(1498-1500)CTC>CCC p.L500P LDHD_uc002fdn.2_Missense_Mutation_p.L477P NM_153486 NP_705690 Q86WU2 LDHD_HUMAN D-lactate dehydrogenase isoform 1 precursor 500 D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding 0 TGGATTCATGAGGCCTTGGGG 0.622 NA 3 37 0 0 0 0 MYO1D 4642 broad.mit.edu 37 17 30821787 30821787 + Missense_Mutation SNP G G T TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr17:30821787G>T uc002hho.1 - 22 3023 c.3011C>A c.(3010-3012)CCC>CAC p.P1004H NM_015194 NP_056009 O94832 MYO1D_HUMAN myosin ID 1004 myosin complex actin binding|ATP binding|calmodulin binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(9;0.0362) TCAGTTCCCGGGCACGCTGAG 0.682 NA 7 11 0.00198382 0.00566432 1 0 PDYN 5173 broad.mit.edu 37 20 1961249 1961249 + Missense_Mutation SNP T T G TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr20:1961249T>G uc010gaj.2 - 3 727 c.485A>C c.(484-486)TAT>TCT p.Y162S uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.Y162S|PDYN_uc010zpt.1_Missense_Mutation_p.Y7S NM_024411 NP_077722 P01213 PDYN_HUMAN beta-neoendorphin-dynorphin preproprotein 162 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity upper_aerodigestive_tract(1)|ovary(1) 2 CTCAGCGAGATAGAGTGTGCC 0.597 NA 5 94 0 0 0 0 PLCB1 23236 broad.mit.edu 37 20 8678323 8678323 + Silent SNP C C T TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr20:8678323C>T uc002wnb.2 + 11 1063 c.1060C>T c.(1060-1062)CTG>TTG p.L354L PLCB1_uc010zrb.1_Silent_p.L253L|PLCB1_uc002wna.2_Silent_p.L354L|PLCB1_uc002wnc.1_Silent_p.L253L NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 354 PI-PLC X-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 CCAAGTGCTCCTGTCTGGTTG 0.502 NA 38 86 0 0 0 0 EP300 2033 broad.mit.edu 37 22 41565529 41565529 + Missense_Mutation SNP G G A TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr22:41565529G>A uc003azl.3 + 26 4590 c.4195G>A c.(4195-4197)GAT>AAT p.D1399N NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1399 D->Y: Does not interact with TFAP2A and inhibits transcriptional coactivation of TFAP2A by CITED2. Does not inhibit interaction with CITED2, DNA-binding of TFAP2A or nuclear localization of TFAP2A or CITED2. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.D1399Y(1) haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 ATCTTACCTCGATAGTGTTCA 0.338 NA T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 32 24 0 0 0 0 PRR23A 729627 broad.mit.edu 37 3 138724434 138724434 + Missense_Mutation SNP A A G TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr3:138724434A>G uc011bms.1 - 1 677 c.677T>C c.(676-678)GTC>GCC p.V226A NM_001134659 NP_001128131 A6NEV1 PR23A_HUMAN proline rich 23A 226 Pro-rich. 0 TGAGCTGGGGACAGGCTCCAG 0.682 NA 6 17 0 0 0 0 KPNA4 3840 broad.mit.edu 37 3 160239585 160239585 + Silent SNP G G A TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr3:160239585G>A uc003fdn.2 - 11 1191 c.885C>T c.(883-885)CAC>CAT p.H295H NM_002268 NP_002259 O00629 IMA4_HUMAN karyopherin alpha 4 295 ARM 6. NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding 0 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) TAACTTCCTGGTGGCTGAGCA 0.388 NA 53 79 0 0 0 0 NAALADL2 254827 broad.mit.edu 37 3 174974236 174974236 + Missense_Mutation SNP G G A TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr3:174974236G>A uc003fit.2 + 4 943 c.856G>A c.(856-858)GAT>AAT p.D286N NAALADL2_uc003fiu.1_Missense_Mutation_p.D279N|NAALADL2_uc010hwy.1_Missense_Mutation_p.D108N|NAALADL2_uc010hwz.1_5'UTR NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 286 Extracellular (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) AATGGCAGATGATTTAAAAAG 0.363 NA 14 78 0 0 0 0 SLC4A4 8671 broad.mit.edu 37 4 72319250 72319250 + Missense_Mutation SNP C C G rs138493429 byFrequency TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr4:72319250C>G uc003hfy.2 + 12 1478 c.1361C>G c.(1360-1362)GCG>GGG p.A454G SLC4A4_uc010iic.2_Missense_Mutation_p.A454G|SLC4A4_uc010iib.2_Missense_Mutation_p.A454G|SLC4A4_uc003hfz.2_Missense_Mutation_p.A454G|SLC4A4_uc003hgc.3_Missense_Mutation_p.A410G|SLC4A4_uc010iid.2_Intron|SLC4A4_uc003hga.2_Missense_Mutation_p.A332G|SLC4A4_uc003hgb.3_Missense_Mutation_p.A410G NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 454 Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) AAGAGGAAAGCGCCATTTTTT 0.343 NA 28 113 0 0 0 0 ACSL1 2180 broad.mit.edu 37 4 185684332 185684332 + Missense_Mutation SNP C C T TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr4:185684332C>T uc003iww.2 - 16 1804 c.1510G>A c.(1510-1512)GGC>AGC p.G504S ACSL1_uc011ckm.1_Missense_Mutation_p.G333S|ACSL1_uc003iwt.1_Missense_Mutation_p.G504S|ACSL1_uc003iwu.1_Missense_Mutation_p.G504S|ACSL1_uc011ckn.1_Missense_Mutation_p.G470S|ACSL1_uc003iws.1_Missense_Mutation_p.G74S NM_001995 NP_001986 P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 504 Cytoplasmic (Potential). digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity ovary(2) 2 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TCGCCCTCGCCCTCGGCAGCC 0.488 NA 10 28 0 0 0 0 ARSI 340075 broad.mit.edu 37 5 149676844 149676844 + Missense_Mutation SNP C C A TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr5:149676844C>A uc003lrv.2 - 2 2232 c.1643G>T c.(1642-1644)TGC>TTC p.C548F NM_001012301 NP_001012301 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I precursor 548 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCAAATCTTGCATTTTTTCTT 0.527 NA 48 84 6.62e-31 2.18e-30 1 0 SLC30A8 169026 broad.mit.edu 37 8 118170064 118170064 + Missense_Mutation SNP G G A TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr8:118170064G>A uc003yoh.2 + 4 783 c.553G>A c.(553-555)GCA>ACA p.A185T SLC30A8_uc010mcz.2_Missense_Mutation_p.A136T|SLC30A8_uc011lia.1_Missense_Mutation_p.A136T|SLC30A8_uc003yog.2_Missense_Mutation_p.A136T NM_173851 NP_776250 Q8IWU4 ZNT8_HUMAN solute carrier family 30 member 8 185 Helical; (Potential). insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity ovary(2)|skin(2) 4 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) TTCCAGCTGCGCAGTGGCGGC 0.527 NA 37 69 0 0 0 0 CLCN4 1183 broad.mit.edu 37 X 10201603 10201603 + Silent SNP C C T TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chrX:10201603C>T uc004csy.3 + 13 2692 c.2262C>T c.(2260-2262)CCC>CCT p.P754P CLCN4_uc011mid.1_Silent_p.P660P NM_001830 NP_001821 P51793 CLCN4_HUMAN chloride channel 4 754 CBS 2.|Cytoplasmic (By similarity). early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 ACCAGGACCCCGAATCCATCA 0.363 NA 4 40 0 0 0 0 GPBP1L1 60313 broad.mit.edu 37 1 46099783 46099784 + Frame_Shift_Ins INS - - A TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr1:46099783_46099784insA uc001coq.2 - 9 2230_2231 c.869_870insT c.(868-870)CTGfs p.L290fs GPBP1L1_uc001coo.2_Frame_Shift_Ins_p.L34fs NM_021639 NP_067652 Q9HC44 GPBL1_HUMAN GC-rich promoter binding protein 1-like 1 290 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TGGGAGAACTCAGAGCTGCACC 0.465 NA 22 56 --- --- --- --- NA NA NA NA ALPK3 57538 broad.mit.edu 37 15 85383922 85383922 + Frame_Shift_Del DEL C C - rs143709902 byFrequency TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr15:85383922delC uc002ble.2 + 5 2185 c.2018delC c.(2017-2019)ACCfs p.T673fs NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 673 heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) CACTCCTTGACCCCCCAGCCG 0.617 NA 17 55 --- --- --- --- NA NA NA NA IL34 146433 broad.mit.edu 37 16 70693992 70693993 + Frame_Shift_Ins INS - - AGCTG TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr16:70693992_70693993insAGCTG uc002ezh.1 + 6 1014_1015 c.631_632insAGCTG c.(631-633)CAGfs p.Q211fs IL34_uc002ezi.1_Frame_Shift_Ins_p.Q210fs NM_152456 NP_689669 Q6ZMJ4 IL34_HUMAN interleukin 34 precursor 211 positive regulation of cell proliferation|positive regulation of protein phosphorylation extracellular space cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding central_nervous_system(1)|skin(1) 2 TGCGGCCACCCAGCTGTACCCT 0.649 NA 24 120 --- --- --- --- NA NA NA NA ALK 238 broad.mit.edu 37 2 29451771 29451772 + Frame_Shift_Del DEL CA CA - TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr2:29451771_29451772delCA uc002rmy.2 - 16 3700_3701 c.2793_2794delTG c.(2791-2796)GGTGGAfs p.G931fs NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 931_932 Gly-rich.|Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CCGCCTCCTCCACCTGAGGAGC 0.545 NA T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 12 33 --- --- --- --- NA NA NA NA C3orf1 51300 broad.mit.edu 37 3 119219666 119219667 + Frame_Shift_Ins INS - - AG TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr3:119219666_119219667insAG uc003ecn.2 + 2 532_533 c.319_320insAG c.(319-321)CAGfs p.Q107fs C3orf1_uc003eco.2_RNA|C3orf1_uc003ecp.2_RNA NM_016589 NP_057673 Q9NPL8 TIDC1_HUMAN hypothetical protein LOC51300 107 integral to membrane|mitochondrial inner membrane protein transporter activity 0 GBM - Glioblastoma multiforme(114;0.186) ATACATTGAGCAGAGCCAGGCA 0.421 NA 42 66 --- --- --- --- NA NA NA NA FSTL5 56884 broad.mit.edu 37 4 162307557 162307558 + Frame_Shift_Ins INS - - T TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr4:162307557_162307558insT uc003iqh.2 - 16 2321_2322 c.1885_1886insA c.(1885-1887)ATTfs p.I629fs FSTL5_uc003iqi.2_Frame_Shift_Ins_p.I628fs|FSTL5_uc010iqv.2_Frame_Shift_Ins_p.I619fs|uc010iqu.1_RNA NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 629 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TTCAAGATCAATTTTTTGTAGT 0.361 NA 13 36 --- --- --- --- NA NA NA NA C8orf80 389643 broad.mit.edu 37 8 27925899 27925899 + Frame_Shift_Del DEL A A - TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr8:27925899delA uc003xgm.3 - 5 457 c.314delT c.(313-315)TTAfs p.L105fs NM_001010906 NP_001010906 Q68CJ6 SLIP_HUMAN speckled-like pattern in the germinal center 105 nucleus GTP binding|GTPase activity ovary(1)|central_nervous_system(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181) GCTTCCAAATAATGCAATGTA 0.433 NA 2 4 --- --- --- --- NA NA NA NA