#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ITGB5	3693	genome.wustl.edu	37	3	124527914	124527914	+	Silent	SNP	G	G	A			TCGA-AB-2881-03A-01W-0732-08	TCGA-AB-2881-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	82b9b9ce-b995-45f0-bf39-53cb56684024	510d78d5-f5a3-4be9-bb94-19f320ca3252	g.chr3:124527914G>A	ENST00000296181.4	-	9	1514	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	406					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GACCAGGATAGGATACCCCAT	0.468																																						dbGAP											0			3											137.0	135.0	136.0					3																	124527914		2203	4300	6503	126010604	SO:0001819	synonymous_variant	0			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1218C>T	3.37:g.124527914G>A		131	5.63	8		6	50.00	6	126010604	125	39.61	82	B0LPF8|B2RD70	Silent	SNP	HMMSmart_VWA,HMMPfam_Integrin_beta,HMMSmart_INB,HMMSmart_PSI,HMMSmart_EGF,HMMPfam_Integrin_B_tail,superfamily_Integrin_bsu_tail,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,HMMPfam_Integrin_b_cyt,PatternScan_INTEGRIN_BETA,superfamily_SSF53300,superfamily_SSF57196,superfamily_SSF69179	p.S406	ENST00000296181.4	37	c.1218	CCDS3030.1	3																																																																																			-	HMMPfam_Integrin_beta,HMMSmart_INB,superfamily_SSF69179		0.468	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB5	protein_coding	OTTHUMT00000355286.3	G	NM_002213		126010604	-1	no_errors	NM_002213.3	genbank	human	provisional	54_36p	silent	SNP	1.000	A
LRRC15	131578	genome.wustl.edu	37	3	194080335	194080335	+	Missense_Mutation	SNP	C	C	T	rs138851418		TCGA-AB-2881-03A-01W-0732-08	TCGA-AB-2881-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	82b9b9ce-b995-45f0-bf39-53cb56684024	510d78d5-f5a3-4be9-bb94-19f320ca3252	g.chr3:194080335C>T	ENST00000347624.3	-	2	1523	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	LRRC15_ENST00000428839.1_Missense_Mutation_p.E486K|LRRC15_ENST00000439944.2_Missense_Mutation_p.E486K	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	480					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CTAGGCACCTCGGGGACATGG	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22285	0.0		0.0	False		,,,				2504	0.0					dbGAP											0			3						C	LYS/GLU,LYS/GLU	8,4398	14.3+/-33.2	0,8,2195	148.0	136.0	140.0		1456,1438	0.6	0.0	3	dbSNP_134	140	0,8600		0,0,4300	yes	missense,missense	LRRC15	NM_001135057.2,NM_130830.4	56,56	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	possibly-damaging,possibly-damaging	486/588,480/582	194080335	8,12998	2203	4300	6503	195561630	SO:0001583	missense	0			AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1438G>A	3.37:g.194080335C>T	ENSP00000306276:p.Glu480Lys	156	2.48	4		NA	NA	NA	195561630	170	21.92	48	Q495Q6|Q7RTN7	Missense_Mutation	SNP	HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058	p.E480K	ENST00000347624.3	37	c.1438	CCDS3306.1	3	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.066	0.009965	0.07912	0.001816	0.0	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.56776	0.44;0.48;0.48	4.84	0.584	0.17422	.	0.707233	0.13279	N	0.399936	T	0.30417	0.0764	N	0.14661	0.345	0.09310	N	0.999998	B;B	0.15141	0.007;0.012	B;B	0.08055	0.001;0.003	T	0.19031	-1.0318	10	0.16896	T	0.51	.	9.7338	0.40376	0.0:0.3623:0.5507:0.087	.	480;486	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	K	480;486;486	ENSP00000306276:E480K;ENSP00000389128:E486K;ENSP00000413707:E486K	ENSP00000306276:E480K	E	-	1	0	LRRC15	195561630	0.000000	0.05858	0.008000	0.14137	0.110000	0.19582	-0.431000	0.06965	0.300000	0.22699	0.655000	0.94253	GAG	-	NULL		0.542	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC15	protein_coding	OTTHUMT00000342858.2	C			195561630	-1	no_errors	NM_130830.1	genbank	human	validated	54_36p	missense	SNP	0.003	T
KIT	3815	genome.wustl.edu	37	4	55599320	55599320	+	Missense_Mutation	SNP	G	G	T	rs121913506		TCGA-AB-2881-03A-01W-0732-08	TCGA-AB-2881-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	82b9b9ce-b995-45f0-bf39-53cb56684024	510d78d5-f5a3-4be9-bb94-19f320ca3252	g.chr4:55599320G>T	ENST00000288135.5	+	17	2543	c.2446G>T	c.(2446-2448)Gac>Tac	p.D816Y		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	816	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> F (in mastocytosis; requires 2 nucleotide substitutions; somatic mutation; constitutively activated and is much more rapidly autophosphorylated than wild type). {ECO:0000269|PubMed:9990072}.|D -> H (in a testicular tumor; seminoma; somatic mutation; constitutively activated; dbSNP:rs28933969). {ECO:0000269|PubMed:10362788}.|D -> V (in mast cell leukemia and mastocytosis; somatic mutation; constitutively activated; loss of interaction with MPDZ). {ECO:0000269|PubMed:7691885, ECO:0000269|PubMed:9990072}.|D -> Y (in acute myeloid leukemia, mastocytosis and a germ cell tumor of the testis; somatic mutation; constitutively activated). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9657776, ECO:0000269|PubMed:9990072}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D816Y(46)|p.D816H(42)|p.D816F(6)|p.D816I(2)|p.D816N(1)|p.R815_D816insVI(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTAGCCAGAGACATCAAGAA	0.393		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													dbGAP	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	98	Substitution - Missense(97)|Insertion - In frame(1)	haematopoietic_and_lymphoid_tissue(68)|testis(15)|ovary(10)|soft_tissue(3)|genital_tract(1)|skin(1)	4											144.0	146.0	145.0					4																	55599320		2203	4300	6503	55294077	SO:0001583	missense	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2446G>T	4.37:g.55599320G>T	ENSP00000288135:p.Asp816Tyr	53	3.64	2		172	29.22	71	55294077	111	26.32	40	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.D816Y	ENST00000288135.5	37	c.2446	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976091	0.92982	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.83755	-1.76;-1.76	5.62	5.62	0.85841	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	D	0.87869	0.6286	L	0.39692	1.235	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.65684	0.937;0.919	D	0.88642	0.3176	10	0.87932	D	0	.	19.6484	0.95791	0.0:0.0:1.0:0.0	.	812;816	P10721-2;P10721	.;KIT_HUMAN	Y	816;812	ENSP00000288135:D816Y;ENSP00000390987:D812Y	ENSP00000288135:D816Y	D	+	1	0	KIT	55294077	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.700000	0.98707	2.659000	0.90383	0.585000	0.79938	GAC	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	protein_coding	OTTHUMT00000250618.1	G			55294077	+1	no_errors	NM_000222.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
KLHL2	11275	genome.wustl.edu	37	4	166235192	166235192	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2881-03A-01W-0732-08	TCGA-AB-2881-11A-01W-0732-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	82b9b9ce-b995-45f0-bf39-53cb56684024	510d78d5-f5a3-4be9-bb94-19f320ca3252	g.chr4:166235192A>T	ENST00000226725.6	+	13	1742	c.1483A>T	c.(1483-1485)Aac>Tac	p.N495Y	KLHL2_ENST00000538127.1_Missense_Mutation_p.N407Y|KLHL2_ENST00000506761.1_Missense_Mutation_p.N329Y|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000514860.1_Missense_Mutation_p.N499Y|KLHL2_ENST00000421009.2_Missense_Mutation_p.N398Y	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	495					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TGGTGTGTTAAACAATTTATT	0.363																																						dbGAP											0			4											249.0	229.0	236.0					4																	166235192		2203	4300	6503	166454642	SO:0001583	missense	0			AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1483A>T	4.37:g.166235192A>T	ENSP00000226725:p.Asn495Tyr	250	3.45	9		21	34.38	11	166454642	169	40.00	116	A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	HMMSmart_BTB,HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central,superfamily_BTB/POZ_fold,HMMPfam_BACK,HMMPfam_BTB	p.N495Y	ENST00000226725.6	37	c.1483	CCDS34094.1	4	.	.	.	.	.	.	.	.	.	.	A	16.03	3.007904	0.54361	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	6.13	6.13	0.99165	Galactose oxidase, beta-propeller (1);	0.085599	0.85682	D	0.000000	D	0.83649	0.5300	M	0.84433	2.695	0.80722	D	1	B;B;B	0.15719	0.014;0.014;0.014	B;B;B	0.15484	0.013;0.013;0.013	T	0.80906	-0.1173	10	0.66056	D	0.02	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	499;495;495	B4DFH7;B2RD18;O95198	.;.;KLHL2_HUMAN	Y	495;499;407;398;329	ENSP00000226725:N495Y;ENSP00000424198:N499Y;ENSP00000437526:N407Y;ENSP00000408974:N398Y;ENSP00000424108:N329Y	ENSP00000226725:N495Y	N	+	1	0	KLHL2	166454642	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.572000	0.82409	2.367000	0.80283	0.529000	0.55759	AAC	-	HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central		0.363	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLHL2	protein_coding	OTTHUMT00000364439.1	A			166454642	+1	no_errors	NM_007246.2	genbank	human	provisional	54_36p	missense	SNP	1.000	T
ESM1	11082	genome.wustl.edu	37	5	54281094	54281094	+	Silent	SNP	C	C	T	rs566503445		TCGA-AB-2881-03A-01W-0732-08	TCGA-AB-2881-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	82b9b9ce-b995-45f0-bf39-53cb56684024	510d78d5-f5a3-4be9-bb94-19f320ca3252	g.chr5:54281094C>T	ENST00000381405.4	-	1	397	c.252G>A	c.(250-252)caG>caA	p.Q84Q	ESM1_ENST00000598310.1_Intron|ESM1_ENST00000381403.4_Silent_p.Q84Q	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	84	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				angiogenesis (GO:0001525)|positive regulation of cell proliferation (GO:0008284)|positive regulation of hepatocyte growth factor receptor signaling pathway (GO:1902204)|regulation of cell growth (GO:0001558)|sprouting angiogenesis (GO:0002040)	extracellular region (GO:0005576)	hepatocyte growth factor receptor binding (GO:0005171)|integrin binding (GO:0005178)			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			CATTAGAAGGCTGACACCTCA	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19016	0.0		0.0	False		,,,				2504	0.0					dbGAP											0			5											92.0	93.0	92.0					5																	54281094		2203	4300	6503	54316851	SO:0001819	synonymous_variant	0			X89426	CCDS3963.1, CCDS47206.1	5q11	2008-02-05			ENSG00000164283	ENSG00000164283			3466	protein-coding gene	gene with protein product		601521				8702785	Standard	NM_001135604		Approved		uc003jpk.3	Q9NQ30	OTTHUMG00000097010	ENST00000381405.4:c.252G>A	5.37:g.54281094C>T		48	9.43	5		NA	NA	NA	54316851	62	44.35	51	B2R4G3|Q15330|Q3V4E3|Q96ES3	Silent	SNP	HMMSmart_IB	p.Q84	ENST00000381405.4	37	c.252	CCDS3963.1	5																																																																																			-	HMMSmart_IB		0.577	ESM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESM1	protein_coding	OTTHUMT00000214099.2	C	NM_007036		54316851	-1	no_errors	NM_007036.1	genbank	human	reviewed	54_36p	silent	SNP	0.995	T
TBC1D32	221322	genome.wustl.edu	37	6	121434261	121434261	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2881-03A-01W-0732-08	TCGA-AB-2881-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	82b9b9ce-b995-45f0-bf39-53cb56684024	510d78d5-f5a3-4be9-bb94-19f320ca3252	g.chr6:121434261T>C	ENST00000398212.2	-	28	3165	c.3116A>G	c.(3115-3117)aAg>aGg	p.K1039R	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000275159.6_Missense_Mutation_p.K1080R	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	1039					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										CTCACAATGCTTTAAAACCCA	0.323																																						dbGAP											0			6											163.0	156.0	158.0					6																	121434261		1807	4082	5889	121475960	SO:0001583	missense	0			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.3116A>G	6.37:g.121434261T>C	ENSP00000381270:p.Lys1039Arg	89	3.26	3		3	25.00	1	121475960	139	40.76	97	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	superfamily_Ypt/Rab-GAP domain of gyp1p	p.K1039R	ENST00000398212.2	37	c.3116	CCDS43501.1	6	.	.	.	.	.	.	.	.	.	.	T	13.87	2.365238	0.41902	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.24538	1.85;1.85	5.82	5.82	0.92795	.	0.043772	0.85682	D	0.000000	T	0.30759	0.0775	L	0.52364	1.645	0.38587	D	0.950328	D;B	0.71674	0.998;0.372	D;B	0.78314	0.991;0.184	T	0.12116	-1.0560	10	0.42905	T	0.14	.	9.5352	0.39218	0.167:0.0:0.0:0.833	.	1080;1039	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	R	1080;1039	ENSP00000275159:K1080R;ENSP00000381270:K1039R	ENSP00000275159:K1080R	K	-	2	0	C6orf170	121475960	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	2.066000	0.41452	2.225000	0.72522	0.477000	0.44152	AAG	-	NULL		0.323	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C6orf170	protein_coding	OTTHUMT00000380937.2	T	NM_152730		121475960	-1	no_errors	NM_152730.4	genbank	human	validated	54_36p	missense	SNP	1.000	C
RUNX1T1	862	genome.wustl.edu	37	8	93004054	93004054	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AB-2881-03A-01W-0732-08	TCGA-AB-2881-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	82b9b9ce-b995-45f0-bf39-53cb56684024	510d78d5-f5a3-4be9-bb94-19f320ca3252	g.chr8:93004054G>T	ENST00000523629.1	-	7	1258	c.804C>A	c.(802-804)tgC>tgA	p.C268*	RUNX1T1_ENST00000518844.1_Nonsense_Mutation_p.C241*|RUNX1T1_ENST00000436581.2_Nonsense_Mutation_p.C279*|RUNX1T1_ENST00000422361.2_Nonsense_Mutation_p.C231*|RUNX1T1_ENST00000520724.1_Nonsense_Mutation_p.C231*|RUNX1T1_ENST00000396218.1_Nonsense_Mutation_p.C241*|RUNX1T1_ENST00000360348.2_Nonsense_Mutation_p.C231*|RUNX1T1_ENST00000265814.3_Nonsense_Mutation_p.C268*	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	268					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GGCTAATAGTGCATGGTCGCT	0.493																																						dbGAP											0			8											181.0	150.0	161.0					8																	93004054		2203	4300	6503	93073230	SO:0001587	stop_gained	0			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.804C>A	8.37:g.93004054G>T	ENSP00000428543:p.Cys268*	161	5.78	10		NA	NA	NA	93073230	154	39.38	102	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Nonsense_Mutation	SNP	HMMPfam_zf-MYND,PatternScan_ZF_MYND_1,HMMPfam_TAFH,HMMSmart_SM00549,HMMPfam_NHR2	p.C268*	ENST00000523629.1	37	c.804	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.689385	0.96784	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.8321	20.4745	0.99168	0.0:0.0:1.0:0.0	.	.	.	.	X	268;241;268;231;231;231;279;241	.	ENSP00000265814:C268X	C	-	3	2	RUNX1T1	93073230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	TGC	-	NULL		0.493	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	protein_coding	OTTHUMT00000377045.3	G	NM_004349, NM_175635		93073230	-1	no_errors	NM_175634.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
MTCL1	23255	genome.wustl.edu	37	18	8806946	8806946	+	Missense_Mutation	SNP	G	G	A	rs199934266		TCGA-AB-2881-03A-01W-0732-08	TCGA-AB-2881-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	82b9b9ce-b995-45f0-bf39-53cb56684024	510d78d5-f5a3-4be9-bb94-19f320ca3252	g.chr18:8806946G>A	ENST00000306329.11	+	9	3449	c.3449G>A	c.(3448-3450)cGt>cAt	p.R1150H	SOGA2_ENST00000518815.1_Missense_Mutation_p.R146H|SOGA2_ENST00000359865.3_Missense_Mutation_p.R831H|SOGA2_ENST00000306285.7_Missense_Mutation_p.R146H|SOGA2_ENST00000400050.3_Missense_Mutation_p.R790H|SOGA2_ENST00000517570.1_Missense_Mutation_p.R790H																							GAGGACTTCCGTGCGGAGCTG	0.622																																						dbGAP											0			18						G	HIS/ARG	0,4406		0,0,2203	75.0	62.0	67.0		2492	2.8	0.1	18		67	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC165	NM_015210.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	831/1587	8806946	1,13005	2203	4300	6503	8796946	SO:0001583	missense	0																														ENST00000306329.11:c.3449G>A	18.37:g.8806946G>A	ENSP00000305027:p.Arg1150His	54	0.00	0		NA	NA	NA	8796946	73	21.28	20		Missense_Mutation	SNP	NULL	p.R831H	ENST00000306329.11	37	c.2492		18	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288425	0.40494	0.0	1.16E-4	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.54	2.76	0.32466	.	0.121540	0.38381	N	0.001707	T	0.38214	0.1032	L	0.51422	1.61	0.09310	N	1	B;B	0.30361	0.032;0.277	B;B	0.21708	0.005;0.036	T	0.14671	-1.0464	10	0.21540	T	0.41	-9.5181	6.8167	0.23835	0.2052:0.0:0.6699:0.1249	.	1141;831	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	H	852;790;831;790;146	ENSP00000429556:R790H;ENSP00000352927:R831H;ENSP00000382924:R790H;ENSP00000303670:R146H	ENSP00000303670:R146H	R	+	2	0	CCDC165	8796946	0.976000	0.34144	0.098000	0.21074	0.395000	0.30598	2.478000	0.45189	0.831000	0.34780	0.655000	0.94253	CGT	-	NULL		0.622	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	KIAA0802	protein_coding	OTTHUMT00000444141.1	G			8796946	+1	no_errors	NM_015210.3	genbank	human	predicted	54_36p	missense	SNP	0.050	A
GNA15	2769	genome.wustl.edu	37	19	3150277	3150277	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2881-03A-01W-0732-08	TCGA-AB-2881-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	82b9b9ce-b995-45f0-bf39-53cb56684024	510d78d5-f5a3-4be9-bb94-19f320ca3252	g.chr19:3150277C>T	ENST00000262958.3	+	3	737	c.479C>T	c.(478-480)gCc>gTc	p.A160V	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	160					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CTCGATTCAGCCGTGTAGTGA	0.657																																						dbGAP											0			19											59.0	62.0	61.0					19																	3150277		2203	4300	6503	3101277	SO:0001583	missense	0				CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.479C>T	19.37:g.3150277C>T	ENSP00000262958:p.Ala160Val	30	0.00	0		109	56.08	143	3101277	22	36.11	13	E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.A160V	ENST00000262958.3	37	c.479	CCDS12104.1	19	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091016	0.36855	.	.	ENSG00000060558	ENST00000262958	D	0.89810	-2.57	4.36	3.23	0.37069	G protein alpha subunit, helical insertion (2);	0.064316	0.64402	D	0.000007	D	0.89887	0.6845	L	0.38175	1.15	0.27339	N	0.95655	D	0.54397	0.966	D	0.65773	0.938	T	0.82965	-0.0195	10	0.87932	D	0	.	11.3311	0.49477	0.0:0.8139:0.1861:0.0	.	160	P30679	GNA15_HUMAN	V	160	ENSP00000262958:A160V	ENSP00000262958:A160V	A	+	2	0	GNA15	3101277	0.990000	0.36364	0.467000	0.27180	0.050000	0.14768	6.639000	0.74314	1.969000	0.57287	0.313000	0.20887	GCC	-	HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.657	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA15	protein_coding	OTTHUMT00000452320.2	C	NM_002068		3101277	+1	no_errors	NM_002068.2	genbank	human	validated	54_36p	missense	SNP	0.608	T
