#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_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_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
HMCN1	83872	broad.mit.edu	37	1	186059939	186059939	+	Silent	SNP	T	T	C			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr1:186059939T>C	ENST00000271588.4	+	64	10006	c.9777T>C	c.(9775-9777)ctT>ctC	p.L3259L	HMCN1_ENST00000367492.2_Silent_p.L3259L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3259	Ig-like C2-type 31.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.L3259L(1)		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						TCAGTGTCCTTCTAGGAGAAA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	1											131.0	126.0	128.0					1																	186059939		2203	4300	6503	184326562	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9777T>C	1.37:g.186059939T>C			184326562	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																				0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
TP53BP2	7159	broad.mit.edu	37	1	223986086	223986086	+	Silent	SNP	G	G	A			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr1:223986086G>A	ENST00000343537.7	-	12	2070	c.1779C>T	c.(1777-1779)ccC>ccT	p.P593P	TP53BP2_ENST00000391878.2_Silent_p.P464P|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Intron	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	587					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)	p.P464P(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TGGAAGGCTGGGGAGTAAAGG	0.532																																																1	Substitution - coding silent(1)	ovary(1)	1											127.0	137.0	133.0					1																	223986086		2203	4300	6503	222052709	SO:0001819	synonymous_variant	7159			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1779C>T	1.37:g.223986086G>A			222052709	B4DG66|Q12892|Q86X75|Q96KQ3	Silent	SNP	ENST00000343537.7	37	CCDS44319.1																																																																																				0.532	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426	
VN1R5	317705	broad.mit.edu	37	1	247420071	247420071	+	IGR	SNP	C	C	T			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr1:247420071C>T								RP11-488L18.8 (14946 upstream) : Y_RNA (38065 downstream)																							GTTCATGGTCCTCTCAAGAGG	0.458																																																0			1											165.0	158.0	160.0					1																	247420071		1909	4127	6036	245486694	SO:0001628	intergenic_variant	317705																															1.37:g.247420071C>T			245486694		Missense_Mutation	SNP		37																																																																																				0	0.458								
NUDT5	11164	broad.mit.edu	37	10	12212901	12212901	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr10:12212901C>A	ENST00000491614.1	-	8	889	c.494G>T	c.(493-495)gGa>gTa	p.G165V	NUDT5_ENST00000378927.3_Missense_Mutation_p.G165V|NUDT5_ENST00000537776.1_Missense_Mutation_p.G165V|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378937.3_Missense_Mutation_p.G178V|NUDT5_ENST00000378940.3_Missense_Mutation_p.G165V			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	165	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)	p.G165V(1)		breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				GAACATACCTCCATCCCCTGG	0.458																																																1	Substitution - Missense(1)	ovary(1)	10											128.0	112.0	117.0					10																	12212901		2203	4300	6503	12252907	SO:0001583	missense	11164			AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"""Nudix motif containing"""	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.494G>T	10.37:g.12212901C>A	ENSP00000419628:p.Gly165Val		12252907	A8K516|Q6IAG0|Q9UH49	Missense_Mutation	SNP	ENST00000491614.1	37	CCDS7089.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415643	0.62511	.	.	ENSG00000165609	ENST00000491614;ENST00000378929;ENST00000378937;ENST00000537776;ENST00000378940;ENST00000378927	T;T;T;T;T	0.53206	0.79;0.79;0.79;0.79;0.63	5.6	5.6	0.85130	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.103078	0.64402	D	0.000003	T	0.72244	0.3436	M	0.88310	2.945	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.77560	-0.2542	10	0.87932	D	0	-22.1945	13.9273	0.63970	0.0:0.9248:0.0:0.0752	.	165	Q9UKK9	NUDT5_HUMAN	V	165;165;178;165;165;165	ENSP00000419628:G165V;ENSP00000368219:G178V;ENSP00000445116:G165V;ENSP00000368222:G165V;ENSP00000368209:G165V	ENSP00000368209:G165V	G	-	2	0	NUDT5	12252907	1.000000	0.71417	0.999000	0.59377	0.578000	0.36192	3.103000	0.50298	2.629000	0.89072	0.563000	0.77884	GGA		0.458	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046811.1		
HNRNPH3	3189	broad.mit.edu	37	10	70105770	70105770	+	IGR	SNP	C	C	G			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr10:70105770C>G	ENST00000265866.7	+	0	2339				RUFY2_ENST00000602465.1_Missense_Mutation_p.K557N|RUFY2_ENST00000265865.3_Missense_Mutation_p.K147N|RUFY2_ENST00000388768.2_Missense_Mutation_p.K592N	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)						epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.K592N(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						TTACCTTTCTCTTAGAGAGTG	0.323																																																1	Substitution - Missense(1)	ovary(1)	10											101.0	91.0	94.0					10																	70105770		1816	4068	5884	69775776	SO:0001628	intergenic_variant	55680				CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"""RNA binding motif (RRM) containing"""	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349		10.37:g.70105770C>G			69775776	A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Missense_Mutation	SNP	ENST00000265866.7	37	CCDS7278.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681103	0.47886	.	.	ENSG00000204130	ENST00000388768;ENST00000265865	T;T	0.71934	-0.61;-0.61	5.93	1.82	0.25136	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.050787	0.85682	D	0.000000	T	0.47783	0.1464	N	0.13235	0.315	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.004;0.005	T	0.21999	-1.0229	10	0.39692	T	0.17	.	5.6733	0.17735	0.1289:0.3794:0.0:0.4917	.	592;606	Q8WXA3-3;Q8WXA3	.;RUFY2_HUMAN	N	592;147	ENSP00000373420:K592N;ENSP00000265865:K147N	ENSP00000265865:K147N	K	-	3	2	RUFY2	69775776	0.937000	0.31787	0.999000	0.59377	0.995000	0.86356	0.022000	0.13511	0.339000	0.23719	0.655000	0.94253	AAG		0.323	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1		
CNTN1	1272	broad.mit.edu	37	12	41337526	41337526	+	Splice_Site	SNP	G	G	C			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr12:41337526G>C	ENST00000551295.2	+	13	1624	c.1507G>C	c.(1507-1509)Gat>Cat	p.D503H	CNTN1_ENST00000547702.1_Splice_Site_p.D503H|CNTN1_ENST00000360099.3_Splice_Site_p.D503H|CNTN1_ENST00000347616.1_Splice_Site_p.D503H|CNTN1_ENST00000547849.1_Splice_Site_p.D503H|CNTN1_ENST00000348761.2_Splice_Site_p.D492H	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	503					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.D503H(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGTTATCACAGGTAAGTTAAT	0.333																																																1	Substitution - Missense(1)	ovary(1)	12											95.0	93.0	94.0					12																	41337526		2203	4299	6502	39623793	SO:0001630	splice_region_variant	1272			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1507+1G>C	12.37:g.41337526G>C			39623793	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517958	0.64634	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	5.13	3.12	0.35913	Immunoglobulin-like fold (1);	0.291159	0.36932	N	0.002332	T	0.47248	0.1435	L	0.58428	1.81	0.37352	D	0.910863	B;D;D	0.71674	0.391;0.998;0.997	P;D;D	0.70016	0.575;0.967;0.928	T	0.52601	-0.8554	10	0.87932	D	0	.	9.8935	0.41304	0.1848:0.0:0.8152:0.0	.	503;492;503	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	H	503;503;503;503;503;492	ENSP00000448004:D503H;ENSP00000447006:D503H;ENSP00000448653:D503H;ENSP00000325660:D503H;ENSP00000353213:D503H;ENSP00000261160:D492H	ENSP00000325660:D503H	D	+	1	0	CNTN1	39623793	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.338000	0.59316	0.539000	0.28788	0.561000	0.74099	GAT		0.333	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	Missense_Mutation
PMEL	6490	broad.mit.edu	37	12	56359772	56359772	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr12:56359772G>C	ENST00000548747.1	-	1	686	c.24C>G	c.(22-24)tgC>tgG	p.C8W	RP11-973D8.4_ENST00000554022.1_RNA|CDK2_ENST00000266970.4_5'Flank|PMEL_ENST00000360714.4_Missense_Mutation_p.C8W|PMEL_ENST00000536427.1_Missense_Mutation_p.C8W|PMEL_ENST00000548493.1_Missense_Mutation_p.C8W|PMEL_ENST00000449260.2_Missense_Mutation_p.C8W|PMEL_ENST00000539511.1_Missense_Mutation_p.C8W|PMEL_ENST00000550464.1_Missense_Mutation_p.C8W|PMEL_ENST00000552882.1_Missense_Mutation_p.C8W|CDK2_ENST00000440311.2_5'Flank|CDK2_ENST00000553376.1_5'Flank|PMEL_ENST00000548689.1_Intron|CDK2_ENST00000354056.4_5'Flank|PMEL_ENST00000550447.1_Missense_Mutation_p.C8W			P40967	PMEL_HUMAN	premelanosome protein	8					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)		p.C8W(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AATGAAGAAGGCATCTTTTTA	0.488																																																1	Substitution - Missense(1)	ovary(1)	12											304.0	257.0	273.0					12																	56359772		2203	4300	6503	54646039	SO:0001583	missense	6490			AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.24C>G	12.37:g.56359772G>C	ENSP00000448828:p.Cys8Trp		54646039	B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	G	4.969	0.180042	0.09443	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000550447;ENST00000548803;ENST00000547137;ENST00000546543;ENST00000549418	T;T;T;T;T;T;T;T;T;T;T	0.32023	3.07;3.07;1.98;3.07;3.07;3.07;2.71;1.98;1.47;2.46;2.95	4.77	2.81	0.32909	.	0.335148	0.26518	N	0.023935	T	0.25975	0.0633	L	0.44542	1.39	0.09310	N	1	B;B;B	0.14012	0.009;0.009;0.005	B;B;B	0.12156	0.007;0.007;0.002	T	0.18745	-1.0327	10	0.36615	T	0.2	-0.9428	13.0364	0.58875	0.0:0.3073:0.6927:0.0	.	8;8;8	P40967-3;P40967-2;P40967	.;.;PMEL_HUMAN	W	8	ENSP00000402758:C8W;ENSP00000449690:C8W;ENSP00000450036:C8W;ENSP00000448828:C8W;ENSP00000447374:C8W;ENSP00000353940:C8W;ENSP00000438695:C8W;ENSP00000445005:C8W;ENSP00000447732:C8W;ENSP00000448849:C8W;ENSP00000446662:C8W	ENSP00000353940:C8W	C	-	3	2	PMEL	54646039	0.023000	0.18921	0.159000	0.22649	0.005000	0.04900	0.214000	0.17541	1.399000	0.46721	-0.336000	0.08194	TGC		0.488	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928	
PEBP1	5037	broad.mit.edu	37	12	118575880	118575880	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr12:118575880C>G	ENST00000261313.2	+	2	524	c.172C>G	c.(172-174)Ctt>Gtt	p.L58V		NM_002567.2	NP_002558.1	P30086	PEBP1_HUMAN	phosphatidylethanolamine binding protein 1	58						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L58V(1)		ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGGATGGTCTTGATTCAGG	0.493																																					NSCLC(44;94 1357 12187 49467)											1	Substitution - Missense(1)	ovary(1)	12											61.0	52.0	55.0					12																	118575880		2203	4300	6503	117060263	SO:0001583	missense	5037			X85033	CCDS9187.1	12q24	2009-06-16	2006-02-16	2006-02-16	ENSG00000089220	ENSG00000089220			8630	protein-coding gene	gene with protein product	"""Raf kinase inhibitory protein"", ""hippocampal cholinergic neurostimulating peptide"""	604591	"""prostatic binding protein"""	PBP		15782137	Standard	NM_002567		Approved	RKIP, HCNP, PEBP	uc001twu.1	P30086	OTTHUMG00000168860	ENST00000261313.2:c.172C>G	12.37:g.118575880C>G	ENSP00000261313:p.Leu58Val		117060263	B2R4S1	Missense_Mutation	SNP	ENST00000261313.2	37	CCDS9187.1	.	.	.	.	.	.	.	.	.	.	C	9.331	1.060517	0.19987	.	.	ENSG00000089220	ENST00000261313;ENST00000418769	T	0.30182	1.54	4.53	3.55	0.40652	.	0.288557	0.38326	N	0.001723	T	0.14657	0.0354	N	0.17379	0.485	0.25729	N	0.985288	B;B	0.11235	0.004;0.002	B;B	0.17433	0.018;0.004	T	0.06338	-1.0832	10	0.30078	T	0.28	-10.7185	2.4647	0.04550	0.3027:0.5089:0.0:0.1883	.	58;58	B4DRT4;P30086	.;PEBP1_HUMAN	V	58	ENSP00000261313:L58V	ENSP00000261313:L58V	L	+	1	0	PEBP1	117060263	0.994000	0.37717	0.975000	0.42487	0.690000	0.40134	1.783000	0.38664	2.346000	0.79739	0.655000	0.94253	CTT		0.493	PEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401405.1	NM_002567	
ATP12A	479	broad.mit.edu	37	13	25264510	25264510	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr13:25264510C>A	ENST00000381946.3	+	6	748	c.581C>A	c.(580-582)aCc>aAc	p.T194N	ATP12A_ENST00000218548.6_Missense_Mutation_p.T194N			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	194					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.T194N(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GAGAAGAAGACCATCCCTTCA	0.567																																					Pancreas(156;1582 1935 18898 22665 26498)											1	Substitution - Missense(1)	ovary(1)	13											118.0	112.0	114.0					13																	25264510		2203	4300	6503	24162510	SO:0001583	missense	479			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.581C>A	13.37:g.25264510C>A	ENSP00000371372:p.Thr194Asn		24162510	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	1.927	-0.446812	0.04572	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.91686	-2.89;-2.89	4.74	-3.35	0.04928	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	1.697610	0.03175	N	0.171294	D	0.84074	0.5392	L	0.33189	0.99	0.09310	N	1	B;B	0.24882	0.113;0.091	B;B	0.26310	0.047;0.068	T	0.69018	-0.5256	10	0.21540	T	0.41	.	0.9188	0.01310	0.2022:0.2774:0.1187:0.4017	.	194;194	P54707-2;P54707	.;AT12A_HUMAN	N	194	ENSP00000218548:T194N;ENSP00000371372:T194N	ENSP00000218548:T194N	T	+	2	0	ATP12A	24162510	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.414000	0.21164	-0.379000	0.07906	-1.107000	0.02091	ACC		0.567	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	
DDHD1	80821	broad.mit.edu	37	14	53570519	53570519	+	Silent	SNP	C	C	T			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr14:53570519C>T	ENST00000323669.5	-	2	893	c.894G>A	c.(892-894)caG>caA	p.Q298Q	DDHD1_ENST00000357758.3_Silent_p.Q298Q|DDHD1_ENST00000395606.1_Silent_p.Q298Q	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	298					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.Q298Q(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTTCTAGAGGCTGCCAAGTGC	0.368																																																1	Substitution - coding silent(1)	ovary(1)	14											75.0	69.0	71.0					14																	53570519		2203	4300	6503	52640269	SO:0001819	synonymous_variant	80821			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.894G>A	14.37:g.53570519C>T			52640269	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Silent	SNP	ENST00000323669.5	37	CCDS53895.1																																																																																				0.368	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1		
UNC79	57578	broad.mit.edu	37	14	94079195	94079195	+	Silent	SNP	C	C	T	rs567253162		TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr14:94079195C>T	ENST00000393151.2	+	27	3807	c.3807C>T	c.(3805-3807)gaC>gaT	p.D1269D	UNC79_ENST00000553484.1_Silent_p.D1291D|UNC79_ENST00000256339.4_Silent_p.D1092D|UNC79_ENST00000555664.1_Silent_p.D1269D			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1269					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D1092D(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCCCAGAAGACGCTGGGATCG	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		19936	0.001		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	14											109.0	98.0	102.0					14																	94079195		2203	4300	6503	93148948	SO:0001819	synonymous_variant	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3807C>T	14.37:g.94079195C>T			93148948	B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37																																																																																					0.507	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	7519131	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TMEM38A	79041	broad.mit.edu	37	19	16790828	16790828	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr19:16790828C>T	ENST00000187762.2	+	2	249	c.158C>T	c.(157-159)gCg>gTg	p.A53V		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	53						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)	p.A53V(2)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CACCCCATCGCGTCCTGGCTG	0.602																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	19											54.0	40.0	45.0					19																	16790828		2203	4300	6503	16651828	SO:0001583	missense	79041			AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.158C>T	19.37:g.16790828C>T	ENSP00000187762:p.Ala53Val		16651828	A8K9P9	Missense_Mutation	SNP	ENST00000187762.2	37	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	c	19.37	3.813899	0.70912	.	.	ENSG00000072954	ENST00000187762	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.66366	0.2782	L	0.57536	1.79	0.80722	D	1	D	0.56287	0.975	P	0.52554	0.702	T	0.67313	-0.5702	9	0.46703	T	0.11	-14.3296	17.9316	0.88999	0.0:1.0:0.0:0.0	.	53	Q9H6F2	TM38A_HUMAN	V	53	.	ENSP00000187762:A53V	A	+	2	0	TMEM38A	16651828	1.000000	0.71417	0.380000	0.26093	0.076000	0.17211	7.371000	0.79600	2.474000	0.83562	0.561000	0.74099	GCG		0.602	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074	
RASGRP3	25780	broad.mit.edu	37	2	33768654	33768654	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr2:33768654T>C	ENST00000403687.3	+	13	2094	c.1354T>C	c.(1354-1356)Ttt>Ctt	p.F452L	RASGRP3_ENST00000482731.1_3'UTR|RASGRP3_ENST00000402538.3_Missense_Mutation_p.F452L|RASGRP3_ENST00000407811.1_Missense_Mutation_p.F451L	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	452	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.F452L(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AGCTGCCAATTTTCCCTTCTT	0.328																																																1	Substitution - Missense(1)	ovary(1)	2											101.0	91.0	94.0					2																	33768654		1822	4085	5907	33622158	SO:0001583	missense	25780			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1354T>C	2.37:g.33768654T>C	ENSP00000384192:p.Phe452Leu		33622158	D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	T	34	5.302034	0.95601	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	D;D;D	0.82893	-1.64;-1.64;-1.66	5.54	5.54	0.83059	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90075	0.6900	M	0.66297	2.02	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.91635	0.999;0.995	D	0.91165	0.4964	10	0.87932	D	0	-14.0444	15.6717	0.77283	0.0:0.0:0.0:1.0	.	451;452	D6W583;Q8IV61	.;GRP3_HUMAN	L	452;452;451	ENSP00000385886:F452L;ENSP00000384192:F452L;ENSP00000383917:F451L	ENSP00000385886:F452L	F	+	1	0	RASGRP3	33622158	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.967000	0.87967	2.102000	0.63906	0.460000	0.39030	TTT		0.328	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376	
ANKZF1	55139	broad.mit.edu	37	2	220098567	220098567	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr2:220098567G>T	ENST00000323348.5	+	8	1124	c.950G>T	c.(949-951)gGg>gTg	p.G317V	GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000410034.3_Missense_Mutation_p.G317V|ANKZF1_ENST00000409849.1_Missense_Mutation_p.G107V	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	317						membrane (GO:0016020)	metal ion binding (GO:0046872)	p.G317V(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGCAAAGGGGGGATCCCCGA	0.592																																																1	Substitution - Missense(1)	ovary(1)	2											59.0	63.0	62.0					2																	220098567		1935	4130	6065	219806811	SO:0001583	missense	55139			AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.950G>T	2.37:g.220098567G>T	ENSP00000321617:p.Gly317Val		219806811	Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616592	0.46736	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.26518	1.73;1.92;1.73	5.13	2.87	0.33458	.	0.282037	0.42420	D	0.000709	T	0.29749	0.0743	L	0.57536	1.79	0.49299	D	0.999773	P;P;P	0.50443	0.773;0.935;0.808	B;P;B	0.48063	0.372;0.565;0.206	T	0.02676	-1.1125	10	0.56958	D	0.05	-2.2372	8.6369	0.33953	0.3185:0.0:0.6815:0.0	.	261;107;317	B4DZT1;B4E0V1;Q9H8Y5	.;.;ANKZ1_HUMAN	V	317;107;317	ENSP00000321617:G317V;ENSP00000386815:G107V;ENSP00000386337:G317V	ENSP00000321617:G317V	G	+	2	0	ANKZF1	219806811	0.975000	0.34042	0.955000	0.39395	0.986000	0.74619	2.103000	0.41806	0.474000	0.27392	0.655000	0.94253	GGG		0.592	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089	
MYH7B	57644	broad.mit.edu	37	20	33568497	33568497	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr20:33568497A>G	ENST00000262873.7	+	6	677	c.585A>G	c.(583-585)atA>atG	p.I195M	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	153	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.I195M(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGCCCCATATATATGCGGTGG	0.617																																																1	Substitution - Missense(1)	ovary(1)	20											70.0	78.0	75.0					20																	33568497		2115	4240	6355	33032158	SO:0001583	missense	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.585A>G	20.37:g.33568497A>G	ENSP00000262873:p.Ile195Met		33032158	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.561474	0.45590	.	.	ENSG00000078814	ENST00000262873	D	0.90620	-2.7	4.46	-3.12	0.05282	Myosin head, motor domain (2);	0.000000	0.41823	D	0.000806	D	0.96343	0.8807	H	0.98951	4.38	0.41093	D	0.985619	D	0.67145	0.996	D	0.91635	0.999	D	0.94405	0.7626	10	0.87932	D	0	.	9.83	0.40937	0.1843:0.6154:0.0:0.2003	.	153	A7E2Y1	MYH7B_HUMAN	M	195	ENSP00000262873:I195M	ENSP00000262873:I195M	I	+	3	3	MYH7B	33032158	1.000000	0.71417	0.699000	0.30290	0.024000	0.10985	1.067000	0.30616	-0.302000	0.08869	0.533000	0.62120	ATA		0.617	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884	
NELFCD	51497	broad.mit.edu	37	20	57566083	57566083	+	Missense_Mutation	SNP	G	G	A	rs375888011		TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr20:57566083G>A	ENST00000344018.3	+	8	961	c.934G>A	c.(934-936)Gtc>Atc	p.V312I	NELFCD_ENST00000602795.1_Missense_Mutation_p.V321I			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	312					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)		p.V312I(1)									TGACATCACCGTCCTGTTCAA	0.552																																																1	Substitution - Missense(1)	ovary(1)	20						G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	96.0	86.0	89.0		934	6.1	0.4	20		89	0,8600		0,0,4300	no	missense	TH1L	NM_198976.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	312/591	57566083	1,13005	2203	4300	6503	56999478	SO:0001583	missense	51497			AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.934G>A	20.37:g.57566083G>A	ENSP00000342300:p.Val312Ile		56999478	B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	ENST00000344018.3	37		.	.	.	.	.	.	.	.	.	.	G	18.25	3.582815	0.65992	2.27E-4	0.0	ENSG00000101158	ENST00000344018	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	L	0.54323	1.7	0.80722	D	1	D;D	0.64830	0.994;0.985	D;D	0.71184	0.972;0.959	T	0.72947	-0.4137	9	0.42905	T	0.14	-53.0266	20.6452	0.99591	0.0:0.0:1.0:0.0	.	321;312	E1P5H4;Q8IXH7	.;NELFD_HUMAN	I	312	.	ENSP00000342300:V312I	V	+	1	0	TH1L	56999478	1.000000	0.71417	0.397000	0.26308	0.678000	0.39670	9.751000	0.98889	2.885000	0.99019	0.650000	0.86243	GTC		0.552	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976	
SLC17A9	63910	broad.mit.edu	37	20	61596986	61596986	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr20:61596986G>A	ENST00000370351.4	+	10	1101	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	SLC17A9_ENST00000370349.3_Missense_Mutation_p.V318I|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	324					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.V324I(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCTCTCCAGCGTCTTTGCTCT	0.652																																																1	Substitution - Missense(1)	ovary(1)	20											157.0	172.0	167.0					20																	61596986		2121	4242	6363	61067431	SO:0001583	missense	63910			AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.970G>A	20.37:g.61596986G>A	ENSP00000359376:p.Val324Ile		61067431	B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	G	0.294	-0.978228	0.02197	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.58358	0.34;0.34	5.01	-3.45	0.04781	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.461165	0.24022	N	0.042269	T	0.27349	0.0671	N	0.19112	0.55	0.09310	N	1	B;B;B	0.18013	0.025;0.008;0.006	B;B;B	0.20767	0.031;0.021;0.013	T	0.27536	-1.0071	10	0.11485	T	0.65	.	7.8091	0.29219	0.5318:0.0:0.3637:0.1045	.	344;324;318	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	I	324;318	ENSP00000359376:V324I;ENSP00000359374:V318I	ENSP00000359374:V318I	V	+	1	0	SLC17A9	61067431	0.025000	0.19082	0.000000	0.03702	0.007000	0.05969	-0.146000	0.10250	-1.110000	0.02992	-0.367000	0.07326	GTC		0.652	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082	
GTF2E1	2960	broad.mit.edu	37	3	120489646	120489646	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr3:120489646C>T	ENST00000283875.5	+	3	613	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	174					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.R174C(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AAAAGATGCACGCACACTTTT	0.428																																																1	Substitution - Missense(1)	ovary(1)	3											215.0	208.0	210.0					3																	120489646		2203	4300	6503	121972336	SO:0001583	missense	2960			S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.520C>T	3.37:g.120489646C>T	ENSP00000283875:p.Arg174Cys		121972336	Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010546	0.75046	.	.	ENSG00000153767	ENST00000469772;ENST00000283875	T	0.57436	0.4	5.91	5.91	0.95273	Zinc finger, TFIIB-type (1);	0.047836	0.85682	D	0.000000	T	0.73606	0.3608	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76490	-0.2940	10	0.72032	D	0.01	-28.9424	12.8145	0.57657	0.2556:0.7444:0.0:0.0	.	174	P29083	T2EA_HUMAN	C	7;174	ENSP00000283875:R174C	ENSP00000283875:R174C	R	+	1	0	GTF2E1	121972336	0.985000	0.35326	1.000000	0.80357	0.999000	0.98932	2.623000	0.46435	2.813000	0.96785	0.655000	0.94253	CGC		0.428	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513	
PDGFRA	5156	broad.mit.edu	37	4	55144647	55144647	+	Silent	SNP	C	C	A			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr4:55144647C>A	ENST00000257290.5	+	15	2452	c.2121C>A	c.(2119-2121)atC>atA	p.I707I	FIP1L1_ENST00000507166.1_Silent_p.I467I	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	707	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.I707I(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AGCTGGATATCTTTGGATTGA	0.443			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	1	Substitution - coding silent(1)	ovary(1)	4											94.0	92.0	93.0					4																	55144647		2203	4300	6503	54839404	SO:0001819	synonymous_variant	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2121C>A	4.37:g.55144647C>A			54839404	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	CCDS3495.1																																																																																				0.443	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
SCLT1	132320	broad.mit.edu	37	4	129920832	129920832	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr4:129920832G>C	ENST00000281142.5	-	7	1047	c.544C>G	c.(544-546)Caa>Gaa	p.Q182E	SCLT1_ENST00000434680.1_Missense_Mutation_p.Q182E|SCLT1_ENST00000503215.1_Missense_Mutation_p.Q159E|SCLT1_ENST00000502495.1_5'Flank|SCLT1_ENST00000439369.2_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	182					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)	p.Q182E(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						ATTACCTTTTGTTTTTGACTT	0.383																																																1	Substitution - Missense(1)	ovary(1)	4											103.0	102.0	103.0					4																	129920832		2202	4299	6501	130140282	SO:0001583	missense	132320			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.544C>G	4.37:g.129920832G>C	ENSP00000281142:p.Gln182Glu		130140282	A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867882	0.51588	.	.	ENSG00000151466	ENST00000281142;ENST00000434680;ENST00000503215	T;T;T	0.08720	3.06;3.06;3.06	5.63	5.63	0.86233	.	0.130668	0.52532	D	0.000065	T	0.27798	0.0684	M	0.64997	1.995	0.40284	D	0.978434	D;D	0.67145	0.996;0.99	D;D	0.76071	0.987;0.979	T	0.00239	-1.1888	9	.	.	.	-4.825	18.4348	0.90642	0.0:0.0:1.0:0.0	.	182;182	Q96NL6-2;Q96NL6	.;SCLT1_HUMAN	E	182;182;159	ENSP00000281142:Q182E;ENSP00000401539:Q182E;ENSP00000424029:Q159E	.	Q	-	1	0	SCLT1	130140282	1.000000	0.71417	0.967000	0.41034	0.422000	0.31414	4.809000	0.62591	2.636000	0.89361	0.557000	0.71058	CAA		0.383	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643	
FHL5	9457	broad.mit.edu	37	6	97051625	97051625	+	Missense_Mutation	SNP	A	A	C			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr6:97051625A>C	ENST00000326771.2	+	3	516	c.136A>C	c.(136-138)Aaa>Caa	p.K46Q	FHL5_ENST00000541107.1_Missense_Mutation_p.K46Q	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	46	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.K46Q(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		GGAATGCAAAAAACCAATTGA	0.368																																																1	Substitution - Missense(1)	ovary(1)	6											132.0	122.0	125.0					6																	97051625		2203	4300	6503	97158346	SO:0001583	missense	9457			AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.136A>C	6.37:g.97051625A>C	ENSP00000326022:p.Lys46Gln		97158346	B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	A	9.198	1.027745	0.19512	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.88586	-2.4;-2.4;-2.4	5.74	-0.0484	0.13839	Zinc finger, LIM-type (5);	0.472817	0.17871	N	0.159174	T	0.68329	0.2989	L	0.41027	1.25	0.26805	N	0.969129	B	0.18310	0.027	B	0.22152	0.038	T	0.60301	-0.7290	10	0.39692	T	0.17	.	5.7929	0.18371	0.4378:0.2354:0.3268:0.0	.	46	Q5TD97	FHL5_HUMAN	Q	46	ENSP00000442357:K46Q;ENSP00000326022:K46Q;ENSP00000396390:K46Q	ENSP00000326022:K46Q	K	+	1	0	FHL5	97158346	0.077000	0.21312	0.998000	0.56505	0.461000	0.32589	0.145000	0.16157	0.336000	0.23639	-0.242000	0.12053	AAA		0.368	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482	
TAAR2	9287	broad.mit.edu	37	6	132938805	132938805	+	Silent	SNP	G	G	A			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr6:132938805G>A	ENST00000367931.1	-	2	539	c.540C>T	c.(538-540)ttC>ttT	p.F180F	TAAR2_ENST00000275191.2_Silent_p.F135F|TAAR2_ENST00000537809.1_Silent_p.F135F			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	180					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.F180F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AGGCCTCTGAGAAGACCACCC	0.463																																																1	Substitution - coding silent(1)	ovary(1)	6											67.0	60.0	63.0					6																	132938805		2203	4300	6503	132980498	SO:0001819	synonymous_variant	9287			AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.540C>T	6.37:g.132938805G>A			132980498	Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Silent	SNP	ENST00000367931.1	37	CCDS34541.1																																																																																				0.463	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626	
BCORL1	63035	broad.mit.edu	37	X	129156935	129156935	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chrX:129156935G>A	ENST00000218147.7	+	6	3868	c.3671G>A	c.(3670-3672)cGc>cAc	p.R1224H	BCORL1_ENST00000359304.2_Missense_Mutation_p.R1224H|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1224H|BCORL1_ENST00000540052.1_Missense_Mutation_p.R1224H			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1224					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1224H(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CTGAGCACCCGCACGCGCAGT	0.488																																																1	Substitution - Missense(1)	ovary(1)	X											157.0	134.0	142.0					X																	129156935		2203	4300	6503	128984616	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3671G>A	X.37:g.129156935G>A	ENSP00000218147:p.Arg1224His		128984616	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741922	0.89573	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.55413	0.52;0.89;0.57;0.52;0.98	5.88	5.88	0.94601	.	0.000000	0.31123	N	0.008204	T	0.63768	0.2539	L	0.27053	0.805	0.47547	D	0.99945	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.66724	-0.5851	10	0.66056	D	0.02	-15.7061	19.1445	0.93459	0.0:0.0:1.0:0.0	.	1224;1224	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	H	1224;1224;1224;1224;824	ENSP00000218147:R1224H;ENSP00000307541:R1224H;ENSP00000352253:R1224H;ENSP00000437775:R1224H;ENSP00000399483:R824H	ENSP00000218147:R1224H	R	+	2	0	BCORL1	128984616	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.307000	0.72815	2.471000	0.83476	0.600000	0.82982	CGC		0.488	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946	
