#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_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
MPG	4350	genome.wustl.edu	37	16	135506	135506	+	Silent	SNP	C	C	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr16:135506C>G	ENST00000219431.4	+	5	858	c.627C>G	c.(625-627)ctC>ctG	p.L209L	NPRL3_ENST00000405960.3_5'Flank|MPG_ENST00000397817.1_Silent_p.L192L	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	209					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				GCCGTGTCCTCAAGGACCGCG	0.632								Base excision repair (BER), DNA glycosylases																																								0			16											47.0	49.0	48.0					16																	135506		2203	4299	6502	75506	SO:0001819	synonymous_variant	4350				CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"""alkyladenine DNA glycosylase"""	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887	ENST00000219431.4:c.627C>G	16.37:g.135506C>G			75506	G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Silent	SNP	superfamily_FMT C-terminal domain-like,HMMPfam_Pur_DNA_glyco	p.L209	ENST00000219431.4	37	c.627	CCDS32346.1	16																																																																																			-	superfamily_FMT C-terminal domain-like,HMMPfam_Pur_DNA_glyco		0.632	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MPG	protein_coding	OTTHUMT00000109121.4	C			75506	+1	no_errors	NM_002434	genbank	human	validated	54_36p	silent	SNP	1.000	G
CBWD1	55871	genome.wustl.edu	37	9	175736	175736	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr9:175736C>A	ENST00000356521.4	-	2	291	c.203G>T	c.(202-204)aGt>aTt	p.S68I	CBWD1_ENST00000382447.4_Missense_Mutation_p.S68I|CBWD1_ENST00000377400.4_Missense_Mutation_p.S68I|CBWD1_ENST00000382389.1_Missense_Mutation_p.S32I|CBWD1_ENST00000431099.2_Missense_Mutation_p.S32I|CBWD1_ENST00000314367.10_Missense_Mutation_p.S32I|CBWD1_ENST00000377447.3_Missense_Mutation_p.S68I|CBWD1_ENST00000382393.1_Missense_Mutation_p.S68I	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	68							ATP binding (GO:0005524)			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TACTCTTTTACTATGTTGCTC	0.294																																																0			9											3.0	3.0	3.0					9																	175736		1321	3056	4377	165736	SO:0001583	missense	55871			AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.203G>T	9.37:g.175736C>A	ENSP00000348915:p.Ser68Ile		165736	A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_cobW,HMMPfam_CobW_C,superfamily_Hypothetical protein YjiA C-terminal domain	p.S68I	ENST00000356521.4	37	c.203	CCDS6438.1	9	.	.	.	.	.	.	.	.	.	.	.	15.75	2.925426	0.52759	.	.	ENSG00000172785	ENST00000356521;ENST00000377400;ENST00000382447;ENST00000314367;ENST00000377447;ENST00000431099;ENST00000377347;ENST00000417415;ENST00000382393;ENST00000382389	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	3.75	0.654	0.17833	Cobalamin (vitamin B12) biosynthesis CobW-like (1);	0.321084	0.37095	N	0.002254	T	0.44008	0.1273	L	0.46819	1.47	0.34675	D	0.724155	P;P;P	0.48834	0.898;0.898;0.916	P;P;P	0.54026	0.622;0.622;0.74	T	0.55730	-0.8095	10	0.87932	D	0	-6.3911	7.7433	0.28853	0.0:0.4984:0.0:0.5016	.	68;32;68	Q9BRT8-3;Q9BRT8-2;Q9BRT8	.;.;CBWD1_HUMAN	I	68;68;68;32;68;32;68;68;68;32	ENSP00000348915:S68I;ENSP00000366617:S68I;ENSP00000371885:S68I;ENSP00000323433:S32I;ENSP00000366666:S68I;ENSP00000406064:S32I;ENSP00000371830:S68I;ENSP00000371826:S32I	ENSP00000323433:S32I	S	-	2	0	CBWD1	165736	0.996000	0.38824	1.000000	0.80357	0.948000	0.59901	0.425000	0.21346	0.249000	0.21456	0.479000	0.44913	AGT	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_cobW		0.294	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	CBWD1	protein_coding	OTTHUMT00000051463.1	C	NM_018491		165736	-1	no_errors	NM_018491	genbank	human	validated	54_36p	missense	SNP	0.994	A
SLC6A18	348932	genome.wustl.edu	37	5	1242840	1242840	+	Silent	SNP	C	C	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr5:1242840C>T	ENST00000324642.3	+	8	1116	c.993C>T	c.(991-993)atC>atT	p.I331I	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	331					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCAGCCTCATCAACGACTTTG	0.597																																																0			5											183.0	146.0	159.0					5																	1242840		2203	4300	6503	1295840	SO:0001819	synonymous_variant	348932			AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.993C>T	5.37:g.1242840C>T			1295840		Silent	SNP	HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2	p.I331	ENST00000324642.3	37	c.993	CCDS3860.1	5																																																																																			-	HMMPfam_SNF		0.597	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A18	protein_coding	OTTHUMT00000206728.3	C	NM_182632		1295840	+1	no_errors	NM_182632	genbank	human	validated	54_36p	silent	SNP	0.963	T
SLC6A3	6531	genome.wustl.edu	37	5	1432751	1432751	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr5:1432751C>T	ENST00000270349.9	-	4	608	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	SLC6A3_ENST00000453492.2_Missense_Mutation_p.A161T	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	161					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGCGCCCAGGCGATGATGACG	0.597																																																0			5											150.0	134.0	140.0					5																	1432751		2203	4300	6503	1485751	SO:0001583	missense	6531				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.481G>A	5.37:g.1432751C>T	ENSP00000270349:p.Ala161Thr		1485751	A2RUN4|Q14996	Missense_Mutation	SNP	HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2	p.A161T	ENST00000270349.9	37	c.481	CCDS3863.1	5	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331590	0.81690	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.79749	-1.3;-1.3;-1.3	4.34	4.34	0.51931	.	0.120780	0.53938	D	0.000043	T	0.82130	0.4970	M	0.73319	2.225	0.53005	D	0.99996	D	0.54397	0.966	P	0.46940	0.532	D	0.85310	0.1078	10	0.66056	D	0.02	.	14.4007	0.67044	0.0:1.0:0.0:0.0	.	161	Q01959	SC6A3_HUMAN	T	161;161;87	ENSP00000270349:A161T;ENSP00000399806:A161T;ENSP00000429101:A87T	ENSP00000270349:A161T	A	-	1	0	SLC6A3	1485751	0.996000	0.38824	1.000000	0.80357	0.955000	0.61496	3.422000	0.52749	2.237000	0.73441	0.591000	0.81541	GCC	-	HMMPfam_SNF		0.597	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A3	protein_coding	OTTHUMT00000253650.3	C	NM_001044		1485751	-1	no_errors	NM_001044	genbank	human	validated	54_36p	missense	SNP	1.000	T
SEC14L5	9717	genome.wustl.edu	37	16	5047036	5047036	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr16:5047036C>A	ENST00000251170.7	+	8	1141	c.961C>A	c.(961-963)Cag>Aag	p.Q321K		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	321	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CTGGCATTACCAGGACATAGG	0.537																																																0			16											26.0	26.0	26.0					16																	5047036		1951	4123	6074	4987037	SO:0001583	missense	9717			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.961C>A	16.37:g.5047036C>A	ENSP00000251170:p.Gln321Lys		4987037		Missense_Mutation	SNP	HMMPfam_PRELI,superfamily_Sec14p_like_N,HMMPfam_CRAL_TRIO_N,HMMSmart_SEC14,superfamily_CRAL_TRIO_C,HMMPfam_CRAL_TRIO,superfamily_SSF101576	p.Q321K	ENST00000251170.7	37	c.961	CCDS45403.1	16	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995837	0.74703	.	.	ENSG00000103184	ENST00000251170	T	0.74842	-0.88	4.66	4.66	0.58398	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.190622	0.36703	N	0.002442	T	0.65322	0.2680	N	0.17474	0.49	0.58432	D	0.999994	B	0.33345	0.409	B	0.38755	0.281	T	0.66097	-0.6008	10	0.39692	T	0.17	-9.6599	18.0897	0.89471	0.0:1.0:0.0:0.0	.	321	O43304	S14L5_HUMAN	K	321	ENSP00000251170:Q321K	ENSP00000251170:Q321K	Q	+	1	0	SEC14L5	4987037	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.379000	0.66196	2.573000	0.86826	0.491000	0.48974	CAG	-	HMMSmart_SEC14,superfamily_CRAL_TRIO_C,HMMPfam_CRAL_TRIO		0.537	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L5	protein_coding	OTTHUMT00000434379.1	C			4987037	+1	no_errors	NM_014692	genbank	human	validated	54_36p	missense	SNP	1.000	A
KIAA2026	158358	genome.wustl.edu	37	9	5922767	5922767	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr9:5922767C>G	ENST00000399933.3	-	8	3228	c.3229G>C	c.(3229-3231)Gat>Cat	p.D1077H	KIAA2026_ENST00000381461.2_Missense_Mutation_p.D1047H	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1077										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTTTGAAGATCTATTGGCAAC	0.423																																																0			9											123.0	112.0	115.0					9																	5922767		1881	4107	5988	5912767	SO:0001583	missense	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.3229G>C	9.37:g.5922767C>G	ENSP00000382815:p.Asp1077His		5912767	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	superfamily_Bromodomain	p.D1077H	ENST00000399933.3	37	c.3229		9	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386455	0.61956	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.33	5.33	0.75918	.	0.093745	0.43919	D	0.000507	T	0.65923	0.2738	L	0.32530	0.975	0.42120	D	0.991421	D	0.69078	0.997	P	0.60473	0.875	T	0.69993	-0.4994	9	0.87932	D	0	-11.9649	19.0092	0.92865	0.0:1.0:0.0:0.0	.	1077	Q5HYC2	K2026_HUMAN	H	1077;1047	.	ENSP00000370870:D1047H	D	-	1	0	KIAA2026	5912767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.223000	0.51231	2.482000	0.83794	0.561000	0.74099	GAT	-	NULL		0.423	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	protein_coding	OTTHUMT00000051652.2	C	NM_001017969		5912767	-1	no_errors	NM_001017969	genbank	human	validated	54_36p	missense	SNP	1.000	G
LRRC30	339291	genome.wustl.edu	37	18	7232018	7232018	+	Nonsense_Mutation	SNP	C	C	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr18:7232018C>A	ENST00000383467.2	+	1	896	c.882C>A	c.(880-882)taC>taA	p.Y294*		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	294										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TCTTCGGCTACCTGAAGGACA	0.582																																																0			18											103.0	112.0	109.0					18																	7232018		1939	4143	6082	7222018	SO:0001587	stop_gained	339291				CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.882C>A	18.37:g.7232018C>A	ENSP00000372959:p.Tyr294*		7222018		Nonsense_Mutation	SNP	superfamily_SSF52058,HMMPfam_LRR_1	p.Y294*	ENST00000383467.2	37	c.882	CCDS42409.1	18	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453784	0.84209	.	.	ENSG00000206422	ENST00000383467	.	.	.	5.81	4.93	0.64822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.40865	D	0.983868	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1754	0.54182	0.0:0.8374:0.0:0.1626	.	.	.	.	X	294	.	ENSP00000372959:Y294X	Y	+	3	2	LRRC30	7222018	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.515000	0.35845	2.756000	0.94617	0.655000	0.94253	TAC	-	superfamily_SSF52058		0.582	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC30	protein_coding	OTTHUMT00000442140.1	C	XM_292678		7222018	+1	no_errors	NM_001105581	genbank	human	provisional	54_36p	nonsense	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	17	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65.0	56.0	59.0					17																	7577121		2203	4300	6503	7517846	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		7517846	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	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.R273C	ENST00000269305.4	37	c.817	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7517846	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	0.797	A
ABLIM2	84448	genome.wustl.edu	37	4	8082501	8082501	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr4:8082501C>G	ENST00000341937.5	-	5	547	c.483G>C	c.(481-483)aaG>aaC	p.K161N	ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000407564.3_Missense_Mutation_p.K161N|ABLIM2_ENST00000545242.1_Missense_Mutation_p.K161N|ABLIM2_ENST00000361737.5_Missense_Mutation_p.K161N|ABLIM2_ENST00000447017.2_Missense_Mutation_p.K161N|ABLIM2_ENST00000296372.8_Missense_Mutation_p.K161N|ABLIM2_ENST00000361581.5_Missense_Mutation_p.K161N|ABLIM2_ENST00000546334.1_Missense_Mutation_p.K161N|ABLIM2_ENST00000505872.1_Missense_Mutation_p.K161N|ABLIM2_ENST00000428004.2_Missense_Mutation_p.K161N	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	161	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CCTGGCCATTCTTGATTTCTG	0.552																																																0			4											69.0	74.0	72.0					4																	8082501		1950	4147	6097	8133401	SO:0001583	missense	84448			AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.483G>C	4.37:g.8082501C>G	ENSP00000342813:p.Lys161Asn		8133401	E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP	HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_SSF57716,superfamily_VHP,HMMPfam_VHP,HMMSmart_VHP	p.K161N	ENST00000341937.5	37	c.483	CCDS47013.1	4	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738443	0.49045	.	.	ENSG00000163995	ENST00000361737;ENST00000400045;ENST00000296372;ENST00000545242;ENST00000546334;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000407564;ENST00000505872;ENST00000428004	D;D;D;D;D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	3.84	-3.55	0.04639	Zinc finger, LIM-type (5);	0.237714	0.41605	D	0.000857	D	0.85919	0.5809	L	0.41356	1.27	0.80722	D	1	P;B;D;P;B;B;B;P	0.60575	0.863;0.083;0.988;0.519;0.261;0.262;0.324;0.738	P;B;D;P;B;B;B;P	0.66979	0.588;0.224;0.948;0.739;0.316;0.393;0.243;0.831	T	0.81765	-0.0783	10	0.62326	D	0.03	.	6.6444	0.22927	0.0:0.3293:0.1279:0.5427	.	166;161;161;161;161;161;161;161	B7Z6W4;Q6H8Q1-6;Q08E71;Q6H8Q1-2;Q6H8Q1-3;Q6H8Q1;Q19VH0;E9PF39	.;.;.;.;.;ABLM2_HUMAN;.;.	N	161	ENSP00000354887:K161N;ENSP00000296372:K161N;ENSP00000441255:K161N;ENSP00000444365:K161N;ENSP00000393511:K161N;ENSP00000342813:K161N;ENSP00000355003:K161N;ENSP00000384658:K161N;ENSP00000421283:K161N;ENSP00000389410:K161N	ENSP00000296372:K161N	K	-	3	2	ABLIM2	8133401	0.975000	0.34042	0.004000	0.12327	0.714000	0.41099	0.110000	0.15437	-0.705000	0.05035	-0.391000	0.06502	AAG	-	superfamily_SSF57716,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM		0.552	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABLIM2	protein_coding	OTTHUMT00000358862.2	C	NM_001130083		8133401	-1	no_errors	NM_032432	genbank	human	validated	54_36p	missense	SNP	0.994	G
OR7D4	125958	genome.wustl.edu	37	19	9324680	9324680	+	Silent	SNP	G	G	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr19:9324680G>A	ENST00000308682.2	-	1	862	c.834C>T	c.(832-834)taC>taT	p.Y278Y		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TGACCATGGCGTACATCACTG	0.557																																																0			19											70.0	63.0	65.0					19																	9324680		2203	4300	6503	9185680	SO:0001819	synonymous_variant	125958				CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.834C>T	19.37:g.9324680G>A			9185680	A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.Y278	ENST00000308682.2	37	c.834	CCDS32901.1	19																																																																																			-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.557	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D4	protein_coding	OTTHUMT00000449004.1	G			9185680	-1	no_errors	NM_001005191	genbank	human	provisional	54_36p	silent	SNP	0.164	A
Unknown	0	genome.wustl.edu	37	4	13979395	13979395	+	IGR	SNP	T	T	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr4:13979395T>A								RP11-341G5.1 (46543 upstream) : LINC01085 (134196 downstream)																							CAGTAAGCTATCCTTCATGCC	0.413																																																0			4																																								13588493	SO:0001628	intergenic_variant	391636																															4.37:g.13979395T>A			13588493		RNA	SNP	-	NULL		37	NULL		4																																																																																			-	-	0	0.413					LOC391636			T			13588493	+1	pseudogene	XR_016698	genbank	human	model	54_36p	rna	SNP	0.992	A
SEL1L2	80343	genome.wustl.edu	37	20	13830203	13830203	+	Silent	SNP	T	T	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr20:13830203T>C	ENST00000284951.5	-	20	2069	c.1995A>G	c.(1993-1995)ccA>ccG	p.P665P	SEL1L2_ENST00000378072.5_Silent_p.P552P|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	665						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AGTCCCAGTGTGGTCCAATGG	0.478																																																0			20											164.0	163.0	163.0					20																	13830203		1969	4159	6128	13778203	SO:0001819	synonymous_variant	80343			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1995A>G	20.37:g.13830203T>C			13778203	B4DXX5	Silent	SNP	HMMSmart_SEL1,superfamily_SSF81901,HMMPfam_Sel1	p.P665	ENST00000284951.5	37	c.1995		20																																																																																			-	NULL		0.478	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	protein_coding	OTTHUMT00000078067.3	T	NM_025229		13778203	-1	no_errors	NM_025229	genbank	human	validated	54_36p	silent	SNP	0.997	C
TTC39B	158219	genome.wustl.edu	37	9	15189769	15189769	+	Missense_Mutation	SNP	G	G	T	rs143112996	byFrequency	TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr9:15189769G>T	ENST00000512701.2	-	12	1163	c.1127C>A	c.(1126-1128)gCg>gAg	p.A376E	TTC39B_ENST00000507993.1_Missense_Mutation_p.A211E|TTC39B_ENST00000355694.2_Missense_Mutation_p.A310E|TTC39B_ENST00000380850.4_Missense_Mutation_p.A376E|TTC39B_ENST00000507285.1_Missense_Mutation_p.A211E|TTC39B_ENST00000297615.5_Missense_Mutation_p.A307E			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	376										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CTCTGCTTCCGCAACATTCAC	0.403																																																0			9											71.0	65.0	67.0					9																	15189769		2203	4300	6503	15179769	SO:0001583	missense	158219			AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.1127C>A	9.37:g.15189769G>T	ENSP00000422496:p.Ala376Glu		15179769	A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	HMMPfam_Deme6,superfamily_TPR-like,HMMSmart_SM00028	p.A310E	ENST00000512701.2	37	c.929	CCDS6477.2	9	.	.	.	.	.	.	.	.	.	.	G	1.938	-0.444283	0.04604	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000507285;ENST00000507993	T;T;T;T;T;T	0.45276	1.11;1.11;0.9;0.9;1.11;1.11	5.72	-1.66	0.08265	.	0.901412	0.09525	N	0.790362	T	0.10208	0.0250	N	0.01188	-0.97	0.09310	N	0.999996	B;B;B;B;B	0.15719	0.001;0.002;0.014;0.0;0.0	B;B;B;B;B	0.16289	0.007;0.012;0.015;0.003;0.002	T	0.30268	-0.9984	10	0.02654	T	1	-0.2488	1.389	0.02247	0.4565:0.0923:0.2474:0.2039	.	307;376;376;308;310	F5H705;E9PAQ9;E9PE60;A5PLN1;Q5VTQ0	.;.;.;.;TT39B_HUMAN	E	376;307;310;376;211;211	ENSP00000370231:A376E;ENSP00000297615:A307E;ENSP00000347920:A310E;ENSP00000422496:A376E;ENSP00000426539:A211E;ENSP00000423392:A211E	ENSP00000297615:A307E	A	-	2	0	TTC39B	15179769	0.000000	0.05858	0.900000	0.35374	0.882000	0.50991	0.140000	0.16056	-0.142000	0.11354	-0.482000	0.04802	GCG	-	HMMPfam_Deme6		0.403	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC39B	protein_coding	OTTHUMT00000051758.3	G	NM_152574		15179769	-1	no_errors	NM_152574	genbank	human	provisional	54_36p	missense	SNP	0.013	T
NDE1	54820	genome.wustl.edu	37	16	15771672	15771672	+	Silent	SNP	G	G	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr16:15771672G>A	ENST00000396353.2	+	5	1078	c.252G>A	c.(250-252)gtG>gtA	p.V84V	NDE1_ENST00000396355.1_Silent_p.V84V|NDE1_ENST00000342673.5_Silent_p.V84V|NDE1_ENST00000396354.1_Silent_p.V84V			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	84	Self-association. {ECO:0000250}.				centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AGTTTGAAGTGCAGCACTCTG	0.493																																																0			16											97.0	86.0	90.0					16																	15771672		2197	4300	6497	15679173	SO:0001819	synonymous_variant	54820			AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"""nudE nuclear distribution gene E homolog 1 (A. nidulans)"", ""nudE nuclear distribution E homolog 1 (A. nidulans)"""			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.252G>A	16.37:g.15771672G>A			15679173	Q49AQ2	Silent	SNP	HMMPfam_NUDE_C	p.V84	ENST00000396353.2	37	c.252		16																																																																																			-	NULL		0.493	NDE1-202	KNOWN	basic|appris_principal	protein_coding	NDE1	protein_coding		G	NM_017668		15679173	+1	no_errors	NM_017668	genbank	human	reviewed	54_36p	silent	SNP	0.986	A
SLC39A12	221074	genome.wustl.edu	37	10	18276513	18276513	+	Nonsense_Mutation	SNP	T	T	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr10:18276513T>A	ENST00000377369.2	+	7	1475	c.1202T>A	c.(1201-1203)tTa>tAa	p.L401*	SLC39A12_ENST00000539911.1_Nonsense_Mutation_p.L267*|SLC39A12_ENST00000377374.4_Nonsense_Mutation_p.L401*|SLC39A12_ENST00000377371.3_Nonsense_Mutation_p.L401*	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	401					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AGGCTTATCTTACAGCTGTTT	0.542																																																0			10											174.0	147.0	156.0					10																	18276513		2203	4300	6503	18316519	SO:0001587	stop_gained	221074				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1202T>A	10.37:g.18276513T>A	ENSP00000366586:p.Leu401*		18316519	B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Nonsense_Mutation	SNP	HMMPfam_Zip	p.L401*	ENST00000377369.2	37	c.1202	CCDS44362.1	10	.	.	.	.	.	.	.	.	.	.	T	40	8.424463	0.98806	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	.	.	.	6.08	6.08	0.98989	.	0.078431	0.53938	D	0.000050	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4555	16.6438	0.85155	0.0:0.0:0.0:1.0	.	.	.	.	X	401;401;401;267;321	.	ENSP00000366586:L401X	L	+	2	0	SLC39A12	18316519	1.000000	0.71417	0.869000	0.34112	0.638000	0.38207	7.418000	0.80167	2.333000	0.79357	0.533000	0.62120	TTA	-	HMMPfam_Zip		0.542	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A12	protein_coding		T	NM_152725		18316519	+1	no_errors	NM_152725	genbank	human	validated	54_36p	nonsense	SNP	0.998	A
OR4K2	390431	genome.wustl.edu	37	14	20344863	20344863	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr14:20344863T>A	ENST00000298642.2	+	1	473	c.437T>A	c.(436-438)gTg>gAg	p.V146E		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTCTCGTGGTGGCTTCCTGG	0.458																																																0			14											310.0	306.0	308.0					14																	20344863		2203	4300	6503	19414703	SO:0001583	missense	390431				CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.437T>A	14.37:g.20344863T>A	ENSP00000298642:p.Val146Glu		19414703	B2RNK8|Q6IFA5	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.V146E	ENST00000298642.2	37	c.437	CCDS32023.1	14	.	.	.	.	.	.	.	.	.	.	.	12.24	1.879002	0.33162	.	.	ENSG00000165762	ENST00000298642	T	0.00456	7.3	5.12	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000435	T	0.00784	0.0026	M	0.87827	2.91	0.09310	N	1	B	0.32302	0.363	P	0.45343	0.477	T	0.16100	-1.0414	10	0.87932	D	0	.	6.8246	0.23876	0.0:0.2657:0.0:0.7343	.	146	Q8NGD2	OR4K2_HUMAN	E	146	ENSP00000298642:V146E	ENSP00000298642:V146E	V	+	2	0	OR4K2	19414703	0.000000	0.05858	0.660000	0.29694	0.451000	0.32288	-0.378000	0.07446	0.410000	0.25675	-0.400000	0.06385	GTG	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.458	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K2	protein_coding	OTTHUMT00000409864.1	T			19414703	+1	no_errors	NM_001005501	genbank	human	provisional	54_36p	missense	SNP	0.003	A
ACSM2A	123876	genome.wustl.edu	37	16	20497914	20497914	+	Missense_Mutation	SNP	C	C	A	rs571837503		TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr16:20497914C>A	ENST00000573854.1	+	14	1762	c.1648C>A	c.(1648-1650)Ctg>Atg	p.L550M	AC137056.1_ENST00000593357.1_5'Flank|ACSM2A_ENST00000536134.1_Missense_Mutation_p.L322M|ACSM2A_ENST00000219054.6_Missense_Mutation_p.L550M|ACSM2A_ENST00000396104.2_Missense_Mutation_p.L550M|ACSM2A_ENST00000575690.1_Missense_Mutation_p.L550M|ACSM2A_ENST00000417235.2_Missense_Mutation_p.L471M	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	550					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGTCTTGAACCTGCCCAAGAC	0.493																																																0			16											155.0	153.0	154.0					16																	20497914		2203	4300	6503	20405415	SO:0001583	missense	123876			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1648C>A	16.37:g.20497914C>A	ENSP00000459451:p.Leu550Met		20405415	B3KTT9|O75202	Missense_Mutation	SNP	superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING	p.L550M	ENST00000573854.1	37	c.1648	CCDS32401.1	16	.	.	.	.	.	.	.	.	.	.	C	13.98	2.400117	0.42613	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	3.74	2.74	0.32292	.	0.000000	0.35235	N	0.003347	T	0.76652	0.4017	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78440	-0.2203	10	0.87932	D	0	-12.2431	9.7068	0.40220	0.0:0.8953:0.0:0.1047	.	550	Q08AH3	ACS2A_HUMAN	M	471;550;322;550	ENSP00000392169:L471M;ENSP00000219054:L550M;ENSP00000445082:L322M;ENSP00000379411:L550M	ENSP00000219054:L550M	L	+	1	2	ACSM2A	20405415	0.990000	0.36364	0.969000	0.41365	0.363000	0.29612	2.935000	0.48963	1.923000	0.55706	0.306000	0.20318	CTG	-	superfamily_Acetyl-CoA synthetase-like		0.493	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2A	protein_coding	OTTHUMT00000436764.1	C	NM_001010845		20405415	+1	no_errors	NM_001010845	genbank	human	validated	54_36p	missense	SNP	0.990	A
APOB	338	genome.wustl.edu	37	2	21231953	21231953	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr2:21231953G>C	ENST00000233242.1	-	26	7914	c.7787C>G	c.(7786-7788)aCc>aGc	p.T2596S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2596					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAGGCATGGTCCCAAGGAT	0.443																																																0			2											97.0	91.0	93.0					2																	21231953		2203	4300	6503	21085458	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7787C>G	2.37:g.21231953G>C	ENSP00000233242:p.Thr2596Ser		21085458	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex superhelical domain,HMMPfam_DUF1943,HMMPfam_DUF1081	p.T2596S	ENST00000233242.1	37	c.7787	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	3.845	-0.033083	0.07543	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00856	5.61	5.16	3.36	0.38483	.	0.334904	0.25288	N	0.031757	T	0.01454	0.0047	M	0.66939	2.045	0.18873	N	0.999987	B	0.26195	0.144	B	0.24394	0.053	T	0.41034	-0.9531	10	0.62326	D	0.03	.	7.3263	0.26557	0.1455:0.0:0.7182:0.1363	.	2596	P04114	APOB_HUMAN	S	2596	ENSP00000233242:T2596S	ENSP00000233242:T2596S	T	-	2	0	APOB	21085458	0.948000	0.32251	0.759000	0.31340	0.017000	0.09413	1.694000	0.37752	0.577000	0.29470	-0.258000	0.10820	ACC	-	NULL		0.443	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	G			21085458	-1	no_errors	NM_000384	genbank	human	reviewed	54_36p	missense	SNP	0.003	C
HSPG2	3339	genome.wustl.edu	37	1	22211867	22211867	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr1:22211867A>C	ENST00000374695.3	-	10	1235	c.1156T>G	c.(1156-1158)Ttc>Gtc	p.F386V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	386	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TCACAGTGGAAGCTGGCTGGG	0.627																																																0			1											112.0	94.0	100.0					1																	22211867		2203	4300	6503	22084454	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.1156T>G	1.37:g.22211867A>C	ENSP00000363827:p.Phe386Val		22084454	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	HMMPfam_SEA,HMMSmart_SM00200,HMMPfam_Ldl_recept_a,superfamily_LDL receptor-like module,HMMSmart_SM00192,PatternScan_LDLRA_1,HMMSmart_SM00181,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,HMMSmart_SM00281,HMMPfam_Laminin_B,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_LAM_1,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,HMMSmart_SM00179,HMMPfam_V-set,HMMPfam_ig,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMPfam_EGF,HMMPfam_Laminin_G_1	p.F386V	ENST00000374695.3	37	c.1156	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447455	0.84101	.	.	ENSG00000142798	ENST00000374695	D	0.95342	-3.68	5.1	5.1	0.69264	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.176164	0.27518	N	0.019012	D	0.93051	0.7788	L	0.48642	1.525	0.36552	D	0.871897	P	0.47484	0.896	P	0.46510	0.519	D	0.95278	0.8383	10	0.87932	D	0	.	12.8396	0.57793	1.0:0.0:0.0:0.0	.	386	P98160	PGBM_HUMAN	V	386	ENSP00000363827:F386V	ENSP00000363827:F386V	F	-	1	0	HSPG2	22084454	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.952000	0.93031	1.929000	0.55896	0.459000	0.35465	TTC	-	HMMPfam_Ldl_recept_a,superfamily_LDL receptor-like module,HMMSmart_SM00192,PatternScan_LDLRA_1		0.627	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	protein_coding	OTTHUMT00000007598.1	A	NM_005529		22084454	-1	no_errors	NM_005529	genbank	human	validated	54_36p	missense	SNP	1.000	C
E2F2	1870	genome.wustl.edu	37	1	23836565	23836565	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr1:23836565A>T	ENST00000361729.2	-	7	1547	c.1121T>A	c.(1120-1122)cTg>cAg	p.L374Q		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	374	Transactivation. {ECO:0000255}.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CAGCTCCAGCAGGCTGTCAGT	0.642																																																0			1											24.0	24.0	24.0					1																	23836565		2203	4300	6503	23709152	SO:0001583	missense	1870			L22846	CCDS236.1	1p36	2008-02-05			ENSG00000007968	ENSG00000007968			3114	protein-coding gene	gene with protein product		600426				8246995, 8246996	Standard	NM_004091		Approved	E2F-2	uc001bhe.2	Q14209	OTTHUMG00000003223	ENST00000361729.2:c.1121T>A	1.37:g.23836565A>T	ENSP00000355249:p.Leu374Gln		23709152	B2R9W1|Q7Z6H1	Missense_Mutation	SNP	superfamily_SSF46785,HMMPfam_E2F_TDP	p.L374Q	ENST00000361729.2	37	c.1121	CCDS236.1	1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.954516	0.53293	.	.	ENSG00000007968	ENST00000361729	T	0.10668	2.85	4.99	4.99	0.66335	.	0.146332	0.48767	D	0.000162	T	0.08268	0.0206	N	0.19112	0.55	0.21147	N	0.99977	B	0.32693	0.38	B	0.35607	0.206	T	0.32955	-0.9887	10	0.29301	T	0.29	-28.0824	11.3453	0.49556	1.0:0.0:0.0:0.0	.	374	Q14209	E2F2_HUMAN	Q	374	ENSP00000355249:L374Q	ENSP00000355249:L374Q	L	-	2	0	E2F2	23709152	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	6.197000	0.72100	2.007000	0.58848	0.459000	0.35465	CTG	-	NULL		0.642	E2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F2	protein_coding	OTTHUMT00000008885.1	A	NM_004091		23709152	-1	no_errors	NM_004091	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
CTSG	1511	genome.wustl.edu	37	14	25043613	25043613	+	Silent	SNP	C	C	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr14:25043613C>G	ENST00000216336.2	-	4	468	c.432G>C	c.(430-432)gtG>gtC	p.V144V		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	144	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CCCAGCCGGCCACAGTGCACA	0.612																																																0			14											112.0	102.0	106.0					14																	25043613		2203	4300	6503	24113453	SO:0001819	synonymous_variant	1511			M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.432G>C	14.37:g.25043613C>G			24113453	Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER	p.V144	ENST00000216336.2	37	c.432	CCDS9631.1	14																																																																																			-	superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin		0.612	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSG	protein_coding	OTTHUMT00000276536.2	C	NM_001911		24113453	-1	no_errors	NM_001911	genbank	human	reviewed	54_36p	silent	SNP	0.269	G
ATP8A2	51761	genome.wustl.edu	37	13	26343278	26343278	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr13:26343278G>A	ENST00000381655.2	+	26	2621	c.2479G>A	c.(2479-2481)Ggg>Agg	p.G827R	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.G787R	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	787					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CAACGATGTCGGGATGATCCA	0.572																																																0			13											99.0	107.0	104.0					13																	26343278		2158	4237	6395	25241278	SO:0001583	missense	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2479G>A	13.37:g.26343278G>A	ENSP00000371070:p.Gly827Arg		25241278	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N	p.G827R	ENST00000381655.2	37	c.2479	CCDS41873.1	13	.	.	.	.	.	.	.	.	.	.	G	32	5.175283	0.94807	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.69561	-0.41;-0.41	6.11	6.11	0.99139	HAD-like domain (2);	0.108531	0.64402	D	0.000007	D	0.82559	0.5063	M	0.79926	2.475	0.80722	D	1	D;D;D	0.67145	0.996;0.99;0.996	P;P;P	0.61477	0.889;0.823;0.889	T	0.83343	-0.0007	10	0.87932	D	0	.	20.7342	0.99715	0.0:0.0:1.0:0.0	.	787;607;787	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	R	827;787;607	ENSP00000371070:G827R;ENSP00000255283:G787R	ENSP00000255283:G787R	G	+	1	0	ATP8A2	25241278	1.000000	0.71417	0.971000	0.41717	0.908000	0.53690	9.476000	0.97823	2.906000	0.99361	0.655000	0.94253	GGG	-	superfamily_HAD-like		0.572	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8A2	protein_coding	OTTHUMT00000044236.2	G	NM_016529		25241278	+1	no_errors	NM_016529	genbank	human	validated	54_36p	missense	SNP	1.000	A
ASXL2	55252	genome.wustl.edu	37	2	25973249	25973249	+	Silent	SNP	C	C	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr2:25973249C>T	ENST00000435504.4	-	12	1469	c.1176G>A	c.(1174-1176)ttG>ttA	p.L392L	ASXL2_ENST00000272341.4_Silent_p.L132L|ASXL2_ENST00000404843.1_Silent_p.L132L|ASXL2_ENST00000336112.4_Silent_p.L364L			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	392					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGAAGCTGTCAATTTCTTAG	0.403																																																0			2											155.0	150.0	151.0					2																	25973249		1827	4080	5907	25826753	SO:0001819	synonymous_variant	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1176G>A	2.37:g.25973249C>T			25826753	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Silent	SNP	NULL	p.L392	ENST00000435504.4	37	c.1176		2																																																																																			-	NULL		0.403	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	protein_coding	OTTHUMT00000325593.3	C	NM_018263		25826753	-1	no_errors	NM_018263	genbank	human	validated	54_36p	silent	SNP	0.995	T
LRRC37B	114659	genome.wustl.edu	37	17	30348919	30348919	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr17:30348919C>G	ENST00000341671.7	+	1	759	c.754C>G	c.(754-756)Cct>Gct	p.P252A	LRRC37B_ENST00000394713.3_Missense_Mutation_p.P252A|LRRC37B_ENST00000543378.2_Missense_Mutation_p.P170A|LRRC37B_ENST00000327564.7_Missense_Mutation_p.P279A|LRRC37B_ENST00000584368.1_Missense_Mutation_p.P264A	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	252						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TCCAGGGCCTCCTGAGCAAGT	0.507																																																0			17											89.0	105.0	100.0					17																	30348919		2201	4298	6499	27373032	SO:0001583	missense	114659			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.754C>G	17.37:g.30348919C>G	ENSP00000340519:p.Pro252Ala		27373032	Q17RC9|Q5YKG6	Missense_Mutation	SNP	superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1	p.P252A	ENST00000341671.7	37	c.754	CCDS32609.1	17	.	.	.	.	.	.	.	.	.	.	N	8.256	0.810184	0.16537	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.64803	-0.07;-0.12;0.99;-0.11	1.93	-1.89	0.07689	.	.	.	.	.	T	0.48537	0.1505	M	0.67397	2.05	0.09310	N	1	B;P	0.43788	0.127;0.817	B;B	0.39152	0.009;0.292	T	0.39722	-0.9600	9	0.18276	T	0.48	.	2.0013	0.03467	0.2596:0.3805:0.0:0.3599	.	252;252	Q17RC9;Q96QE4	.;LR37B_HUMAN	A	170;279;252;252	ENSP00000443345:P170A;ENSP00000332536:P279A;ENSP00000378202:P252A;ENSP00000340519:P252A	ENSP00000332536:P279A	P	+	1	0	LRRC37B	27373032	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-1.146000	0.03191	-0.439000	0.07222	0.299000	0.19835	CCT	-	NULL		0.507	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37B	protein_coding	OTTHUMT00000446508.1	C	NM_052888		27373032	+1	no_errors	NM_052888	genbank	human	validated	54_36p	missense	SNP	0.000	G
OVCH1	341350	genome.wustl.edu	37	12	29648346	29648346	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr12:29648346A>G	ENST00000318184.5	-	4	325	c.326T>C	c.(325-327)cTc>cCc	p.L109P		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	109	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CTTCTGAAAGAGGCTGTACTC	0.383																																																0			12											102.0	93.0	96.0					12																	29648346		1819	4088	5907	29539613	SO:0001583	missense	341350			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.326T>C	12.37:g.29648346A>G	ENSP00000326708:p.Leu109Pro		29539613		Missense_Mutation	SNP	superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042	p.L109P	ENST00000318184.5	37	c.326		12	.	.	.	.	.	.	.	.	.	.	A	9.239	1.037856	0.19669	.	.	ENSG00000187950	ENST00000318184	D	0.90197	-2.63	2.89	2.89	0.33648	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.90916	0.7145	L	0.55834	1.745	0.09310	N	1	P	0.50819	0.939	P	0.54174	0.744	T	0.82335	-0.0508	9	0.49607	T	0.09	.	9.1919	0.37204	1.0:0.0:0.0:0.0	.	109	Q7RTY7	OVCH1_HUMAN	P	109	ENSP00000326708:L109P	ENSP00000326708:L109P	L	-	2	0	OVCH1	29539613	0.377000	0.25106	0.002000	0.10522	0.009000	0.06853	1.442000	0.35046	1.569000	0.49696	0.533000	0.62120	CTC	-	superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin		0.383	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	OVCH1	protein_coding	OTTHUMT00000395997.2	A	NM_183378		29539613	-1	no_errors	NM_183378	genbank	human	validated	54_36p	missense	SNP	0.066	G
HECTD1	25831	genome.wustl.edu	37	14	31647453	31647453	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr14:31647453G>T	ENST00000399332.1	-	3	636	c.148C>A	c.(148-150)Cct>Act	p.P50T	HECTD1_ENST00000553700.1_Missense_Mutation_p.P50T	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	50					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AAAGTGCGAGGAGGACATCTG	0.333																																																0			14											56.0	52.0	53.0					14																	31647453		1840	4081	5921	30717204	SO:0001583	missense	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.148C>A	14.37:g.31647453G>T	ENSP00000382269:p.Pro50Thr		30717204	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	superfamily_ARM repeat,superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Galactose-binding domain-like,HMMPfam_Sad1_UNC,HMMPfam_MIB_HERC2,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT	p.P50T	ENST00000399332.1	37	c.148	CCDS41939.1	14	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592479	0.86953	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.64085	-0.08;-0.08;-0.08	5.11	5.11	0.69529	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79070	0.4384	M	0.75447	2.3	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.78380	-0.2226	10	0.40728	T	0.16	-14.0008	18.8815	0.92357	0.0:0.0:1.0:0.0	.	50	Q9ULT8	HECD1_HUMAN	T	50	ENSP00000450697:P50T;ENSP00000382269:P50T;ENSP00000452015:P50T	ENSP00000261312:P50T	P	-	1	0	HECTD1	30717204	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.420000	0.97426	2.532000	0.85374	0.484000	0.47621	CCT	-	superfamily_ARM repeat		0.333	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	protein_coding	OTTHUMT00000409942.1	G			30717204	-1	no_errors	NM_015382	genbank	human	validated	54_36p	missense	SNP	1.000	T
CCDC73	493860	genome.wustl.edu	37	11	32637508	32637508	+	Missense_Mutation	SNP	A	A	C	rs370055016		TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr11:32637508A>C	ENST00000335185.5	-	15	1396	c.1353T>G	c.(1351-1353)ttT>ttG	p.F451L	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	451										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTCCTCTATAAATGAGCCTT	0.239																																																0			11											38.0	34.0	35.0					11																	32637508		1768	4037	5805	32594084	SO:0001583	missense	493860			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1353T>G	11.37:g.32637508A>C	ENSP00000335325:p.Phe451Leu		32594084	Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	NULL	p.F451L	ENST00000335185.5	37	c.1353	CCDS41630.1	11	.	.	.	.	.	.	.	.	.	.	A	1.544	-0.541123	0.04053	.	.	ENSG00000186714	ENST00000335185	.	.	.	4.92	0.794	0.18638	.	3.432310	0.00841	N	0.001749	T	0.32526	0.0832	L	0.40543	1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.08659	-1.0711	9	0.12430	T	0.62	.	5.4575	0.16598	0.4792:0.3511:0.0:0.1697	.	441;451	Q6ZRK6-2;Q6ZRK6	.;CCD73_HUMAN	L	451	.	ENSP00000335325:F451L	F	-	3	2	CCDC73	32594084	0.001000	0.12720	0.000000	0.03702	0.025000	0.11179	1.187000	0.32090	0.368000	0.24481	0.477000	0.44152	TTT	-	NULL		0.239	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC73	protein_coding	OTTHUMT00000388874.2	A	NM_001008391		32594084	-1	no_errors	NM_001008391	genbank	human	validated	54_36p	missense	SNP	0.000	C
CTD-2066L21.3	0	genome.wustl.edu	37	5	33162384	33162384	+	lincRNA	SNP	G	G	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr5:33162384G>A	ENST00000510327.1	-	0	346																											GCGCCCAGCTGCCAACACCAA	0.587																																																0			5																																								33198141			728553																															5.37:g.33162384G>A			33198141		RNA	SNP	-	NULL	ENST00000510327.1	37	NULL		5																																																																																			-	-		0.587	CTD-2066L21.3-002	KNOWN	basic	lincRNA	LOC728553	lincRNA	OTTHUMT00000366718.1	G			33198141	+1	pseudogene	XR_015414	genbank	human	model	54_36p	rna	SNP	1.000	A
RBM39	9584	genome.wustl.edu	37	20	34300967	34300967	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr20:34300967C>G	ENST00000253363.6	-	12	1171	c.1148G>C	c.(1147-1149)gGc>gCc	p.G383A	RBM39_ENST00000361162.6_Missense_Mutation_p.G383A|RBM39_ENST00000528062.3_Missense_Mutation_p.G361A|RBM39_ENST00000407261.4_Missense_Mutation_p.G226A			Q14498	RBM39_HUMAN	RNA binding motif protein 39	383	Interaction with ESR1 and ESR2. {ECO:0000250}.|Interaction with JUN. {ECO:0000250}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TGCCAAAGAGCCACTCATCTG	0.368																																																0			20											60.0	57.0	58.0					20																	34300967		2203	4300	6503	33764381	SO:0001583	missense	9584			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.1148G>C	20.37:g.34300967C>G	ENSP00000253363:p.Gly383Ala		33764381	A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,HMMSmart_SM00361	p.G383A	ENST00000253363.6	37	c.1148	CCDS13266.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.34|17.34	3.364154|3.364154	0.61513|0.61513	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261|ENST00000448303	T;T;T;T|.	0.41400|.	1.0;1.0;1.0;1.0|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72566|0.72566	0.3476|0.3476	L|L	0.56340|0.56340	1.77|1.77	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.27765|.	0.188;0.188;0.069;0.188;0.188|.	B;B;B;B;B|.	0.32928|.	0.074;0.074;0.155;0.119;0.119|.	T|T	0.68202|0.68202	-0.5471|-0.5471	10|5	0.25751|.	T|.	0.34|.	.|.	19.8557|19.8557	0.96758|0.96758	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	361;361;383;383;359|.	B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7|.	.;.;.;RBM39_HUMAN;.|.	A|C	383;383;361;226|233	ENSP00000253363:G383A;ENSP00000354437:G383A;ENSP00000436747:G361A;ENSP00000384541:G226A|.	ENSP00000253363:G383A|.	G|W	-|-	2|3	0|0	RBM39|RBM39	33764381|33764381	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	7.731000|7.731000	0.84895|0.84895	2.706000|2.706000	0.92434|0.92434	0.650000|0.650000	0.86243|0.86243	GGC|TGG	-	NULL		0.368	RBM39-002	KNOWN	basic|CCDS	protein_coding	RBM39	protein_coding	OTTHUMT00000078931.2	C	NM_184237		33764381	-1	no_errors	NM_184234	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
TRIOBP	11078	genome.wustl.edu	37	22	38120742	38120742	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr22:38120742C>T	ENST00000406386.3	+	7	2434	c.2179C>T	c.(2179-2181)Cgg>Tgg	p.R727W		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	727					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTGTGCCCGACGGGACAATCC	0.582																																																0			22											150.0	165.0	160.0					22																	38120742		1952	4159	6111	36450688	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2179C>T	22.37:g.38120742C>T	ENSP00000384312:p.Arg727Trp		36450688	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like	p.R727W	ENST00000406386.3	37	c.2179	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211490	0.58343	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.21543	2.0	4.63	-0.0702	0.13748	.	.	.	.	.	T	0.18882	0.0453	M	0.62723	1.935	0.09310	N	1	B	0.18610	0.029	B	0.10450	0.005	T	0.31724	-0.9933	9	0.72032	D	0.01	.	3.5752	0.07932	0.3582:0.4464:0.0:0.1954	.	727	Q9H2D6	TARA_HUMAN	W	727	ENSP00000384312:R727W	ENSP00000384312:R727W	R	+	1	2	TRIOBP	36450688	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.674000	0.05233	-0.071000	0.12886	0.400000	0.26472	CGG	-	NULL		0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	protein_coding	OTTHUMT00000319439.2	C			36450688	+1	no_errors	NM_001039141	genbank	human	reviewed	54_36p	missense	SNP	0.194	T
AEBP1	165	genome.wustl.edu	37	7	44152354	44152354	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr7:44152354G>C	ENST00000223357.3	+	18	2720	c.2415G>C	c.(2413-2415)gaG>gaC	p.E805D	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Missense_Mutation_p.E380D	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	805	Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGGCCCAGGAGACTCCAGACC	0.677																																																0			7											49.0	48.0	48.0					7																	44152354		2203	4300	6503	44118879	SO:0001583	missense	165			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2415G>C	7.37:g.44152354G>C	ENSP00000223357:p.Glu805Asp		44118879	Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	superfamily_Galactose-binding domain-like,HMMSmart_SM00231,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_1,superfamily_Carboxypeptidase regulatory domain	p.E805D	ENST00000223357.3	37	c.2415	CCDS5476.1	7	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133812	0.77662	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.10860	2.83;2.83	5.28	5.28	0.74379	Peptidase M14, carboxypeptidase A (2);	0.113052	0.64402	D	0.000012	T	0.20373	0.0490	L	0.39898	1.24	0.40243	D	0.97798	D;D	0.62365	0.991;0.958	P;P	0.61940	0.851;0.896	T	0.00405	-1.1760	10	0.39692	T	0.17	-42.4213	12.2873	0.54798	0.0792:0.0:0.9208:0.0	.	380;805	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	D	805;380	ENSP00000223357:E805D;ENSP00000398878:E380D	ENSP00000223357:E805D	E	+	3	2	AEBP1	44118879	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.615000	0.61190	2.639000	0.89480	0.491000	0.48974	GAG	-	superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14		0.677	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	protein_coding	OTTHUMT00000250993.2	G	NM_001129		44118879	+1	no_errors	NM_001129	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
CYP4A11	1579	genome.wustl.edu	37	1	47403798	47403798	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr1:47403798G>C	ENST00000310638.4	-	2	238	c.207C>G	c.(205-207)gaC>gaG	p.D69E	CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.D69E|CYP4A11_ENST00000371904.4_Missense_Mutation_p.D69E|CYP4A11_ENST00000462347.1_Missense_Mutation_p.D69E	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	69					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GTAGCTCCTGGTCCTGTTGGA	0.502																																																0			1											186.0	148.0	161.0					1																	47403798		2203	4300	6503	47176385	SO:0001583	missense	1579			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.207C>G	1.37:g.47403798G>C	ENSP00000311095:p.Asp69Glu		47176385	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450	p.D69E	ENST00000310638.4	37	c.207	CCDS543.1	1	.	.	.	.	.	.	.	.	.	.	-	6.841	0.524410	0.13066	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.67865	-0.29;-0.29;-0.29	5.21	-1.01	0.10169	.	0.593369	0.17674	N	0.165871	T	0.30696	0.0773	N	0.02973	-0.45	0.09310	N	0.999998	B	0.06786	0.001	B	0.15484	0.013	T	0.11275	-1.0594	10	0.22706	T	0.39	.	1.3363	0.02145	0.2832:0.2753:0.3117:0.1298	.	69	Q02928	CP4AB_HUMAN	E	69	ENSP00000311095:D69E;ENSP00000360971:D69E;ENSP00000360972:D69E	ENSP00000311095:D69E	D	-	3	2	CYP4A11	47176385	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-3.352000	0.00501	-0.103000	0.12175	0.552000	0.68991	GAC	-	HMMPfam_p450,superfamily_Cytochrome P450		0.502	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4A11	protein_coding	OTTHUMT00000022022.1	G	NM_000778		47176385	-1	no_errors	NM_000778	genbank	human	reviewed	54_36p	missense	SNP	0.000	C
ABCA13	154664	genome.wustl.edu	37	7	48280567	48280567	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr7:48280567C>A	ENST00000435803.1	+	10	1190	c.1166C>A	c.(1165-1167)cCc>cAc	p.P389H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	389					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.P389H(1)|p.P334H(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAGAGCAAGCCCTGGAAGGTG	0.493																																																2	Substitution - Missense(2)	large_intestine(2)	7											132.0	133.0	133.0					7																	48280567		2048	4204	6252	48251113	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1166C>A	7.37:g.48280567C>A	ENSP00000411096:p.Pro389His		48251113	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	PatternScan_SERPIN	p.P335T	ENST00000435803.1	37	c.1003	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768256	0.49680	.	.	ENSG00000179869	ENST00000435803	D	0.91464	-2.85	5.5	3.69	0.42338	.	0.276231	0.25954	N	0.027224	D	0.89424	0.6711	L	0.27053	0.805	0.09310	N	0.999994	D	0.71674	0.998	P	0.61397	0.888	T	0.81531	-0.0890	10	0.87932	D	0	.	8.1417	0.31086	0.0:0.8152:0.0:0.1848	.	389	Q86UQ4	ABCAD_HUMAN	H	389	ENSP00000411096:P389H	ENSP00000411096:P389H	P	+	2	0	ABCA13	48251113	0.000000	0.05858	0.006000	0.13384	0.100000	0.18952	0.082000	0.14847	0.678000	0.31325	0.655000	0.94253	CCC	-	NULL		0.493	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	protein_coding	OTTHUMT00000341964.2	C	NM_152701		48251113	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_152701	genbank	human	reviewed	54_36p	missense	SNP	0.007	A
FSHR	2492	genome.wustl.edu	37	2	49381479	49381479	+	Silent	SNP	A	A	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr2:49381479A>T	ENST00000406846.2	-	1	197	c.78T>A	c.(76-78)tcT>tcA	p.S26S	FSHR_ENST00000346173.3_Silent_p.S26S|FSHR_ENST00000304421.4_Silent_p.S26S	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	26	LRRNT.				female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	AAACCCTGTTAGAGCAGTGAC	0.507									Gonadal Dysgenesis, 46 XX																																							0			2											76.0	78.0	77.0					2																	49381479		2203	4300	6503	49234983	SO:0001819	synonymous_variant	2492	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.78T>A	2.37:g.49381479A>T			49234983	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013,HMMPfam_LRR_1,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.S26	ENST00000406846.2	37	c.78	CCDS1843.1	2																																																																																			-	superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013		0.507	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	protein_coding	OTTHUMT00000251367.2	A			49234983	-1	no_errors	NM_000145	genbank	human	reviewed	54_36p	silent	SNP	0.857	T
ZFP64	55734	genome.wustl.edu	37	20	50713637	50713637	+	Intron	SNP	A	A	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr20:50713637A>C	ENST00000361387.2	-	7	1037				ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Intron	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TTCTCTTCTCAGCAGCTGGCT	0.473																																																0			20											35.0	35.0	35.0					20																	50713637		876	1991	2867	50147044	SO:0001627	intron_variant	55734			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000361387.2:c.976+274T>G	20.37:g.50713637A>C			50147044	Q9NTS7|Q9NVH4	Nonstop_Mutation	SNP	HMMSmart_ZnF_C2H2	p.*132G	ENST00000361387.2	37	c.394	CCDS13439.1	20	.	.	.	.	.	.	.	.	.	.	A	0.412	-0.912991	0.02415	.	.	ENSG00000020256	ENST00000395979	.	.	.	2.53	-1.51	0.08664	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3261	0.00311	0.401:0.2298:0.1449:0.2243	.	.	.	.	G	132	.	.	X	-	1	0	ZFP64	50147044	0.000000	0.05858	0.001000	0.08648	0.266000	0.26442	-0.738000	0.04871	-0.354000	0.08212	-0.396000	0.06452	TGA	-	NULL		0.473	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP64	protein_coding	OTTHUMT00000079743.2	A	NM_018197		50147044	-1	no_errors	ENST00000395979	ensembl	human	known	54_36p	nonstop	SNP	0.000	C
CHAT	1103	genome.wustl.edu	37	10	50827773	50827773	+	Silent	SNP	G	G	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr10:50827773G>A	ENST00000337653.2	+	3	543	c.390G>A	c.(388-390)ggG>ggA	p.G130G	CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000395559.2_Silent_p.G12G|CHAT_ENST00000395562.2_Silent_p.G48G|CHAT_ENST00000351556.3_Silent_p.G12G|CHAT_ENST00000339797.1_Silent_p.G12G|CHAT_ENST00000455728.2_Silent_p.G12G	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	130					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	TCTTCCAGGGGCTGCCCAAAC	0.587																																																0			10											54.0	42.0	46.0					10																	50827773		2203	4300	6503	50497779	SO:0001819	synonymous_variant	1103			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.390G>A	10.37:g.50827773G>A			50497779	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_1,PatternScan_ACYLTRANSF_C_2	p.G130	ENST00000337653.2	37	c.390	CCDS7232.1	10																																																																																			-	superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf		0.587	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	protein_coding	OTTHUMT00000047997.1	G	NM_020549		50497779	+1	no_errors	NM_020549	genbank	human	reviewed	54_36p	silent	SNP	0.203	A
TOX3	27324	genome.wustl.edu	37	16	52480096	52480096	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr16:52480096T>C	ENST00000219746.9	-	5	1000	c.716A>G	c.(715-717)aAg>aGg	p.K239R	TOX3_ENST00000407228.3_Missense_Mutation_p.K234R	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	239					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CTTGGGCTTCTTGCCAGAGTC	0.453																																																0			16											45.0	42.0	43.0					16																	52480096		1884	4149	6033	51037597	SO:0001583	missense	27324			U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.716A>G	16.37:g.52480096T>C	ENSP00000219746:p.Lys239Arg		51037597	B4DRD0|B5MCW4	Missense_Mutation	SNP	superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box	p.K239R	ENST00000219746.9	37	c.716	CCDS54009.1	16	.	.	.	.	.	.	.	.	.	.	T	25.0	4.589966	0.86851	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.15139	2.45;2.45	5.9	5.9	0.94986	High mobility group, superfamily (1);	0.103913	0.64402	D	0.000004	T	0.45094	0.1325	M	0.80616	2.505	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75020	0.985;0.98	T	0.40327	-0.9569	10	0.48119	T	0.1	.	16.3317	0.83023	0.0:0.0:0.0:1.0	.	234;239	B4DRD0;O15405	.;TOX3_HUMAN	R	239;234	ENSP00000219746:K239R;ENSP00000385705:K234R	ENSP00000219746:K239R	K	-	2	0	TOX3	51037597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.264000	0.75181	0.533000	0.62120	AAG	-	superfamily_HMG-box		0.453	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TOX3	protein_coding	OTTHUMT00000422534.1	T	XM_049037		51037597	-1	no_errors	NM_001080430	genbank	human	provisional	54_36p	missense	SNP	1.000	C
CC2D1B	200014	genome.wustl.edu	37	1	52824929	52824929	+	Silent	SNP	T	T	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr1:52824929T>G	ENST00000371586.2	-	10	1257	c.1119A>C	c.(1117-1119)gcA>gcC	p.A373A	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Silent_p.A373A	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	373						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						TACCTGGGGTTGCTGGGACGT	0.622																																																0			1											40.0	44.0	43.0					1																	52824929		2203	4300	6503	52597517	SO:0001819	synonymous_variant	200014			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1119A>C	1.37:g.52824929T>G			52597517	Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Silent	SNP	HMMSmart_SM00685,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2	p.A373	ENST00000371586.2	37	c.1119	CCDS30714.1	1	.	.	.	.	.	.	.	.	.	.	T	3.435	-0.115284	0.06881	.	.	ENSG00000154222	ENST00000438021;ENST00000450942	.	.	.	4.3	-2.8	0.05823	.	.	.	.	.	T	0.30603	0.0770	.	.	.	0.34249	D	0.67857	.	.	.	.	.	.	T	0.41124	-0.9526	4	.	.	.	0.0685	0.9389	0.01351	0.161:0.3095:0.1779:0.3516	.	.	.	.	P	160;293	.	.	Q	-	2	0	CC2D1B	52597517	0.181000	0.23161	0.262000	0.24481	0.489000	0.33432	-0.150000	0.10189	-0.249000	0.09569	0.529000	0.55759	CAA	-	NULL		0.622	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CC2D1B	protein_coding	OTTHUMT00000022189.1	T	NM_032449		52597517	-1	no_errors	NM_032449	genbank	human	validated	54_36p	silent	SNP	0.527	G
SRSF1	6426	genome.wustl.edu	37	17	56083793	56083793	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr17:56083793C>T	ENST00000258962.4	-	2	498	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	SRSF1_ENST00000584773.1_Missense_Mutation_p.R97Q|SRSF1_ENST00000582730.2_Missense_Mutation_p.R97Q|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000585096.1_Intron|RP11-159D12.5_ENST00000578794.1_5'Flank	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	97	Gly-rich (hinge region).				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCGCCGCCTCGGCCTGTTCC	0.647																																																0			17											23.0	28.0	26.0					17																	56083793		2200	4289	6489	53438792	SO:0001583	missense	6426				CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10780	protein-coding gene	gene with protein product	"""splicing factor 2"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""alternate splicing factor"", ""SR splicing factor 1"""	600812	"""splicing factor, arginine/serine-rich 1"""	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.290G>A	17.37:g.56083793C>T	ENSP00000258962:p.Arg97Gln		53438792	B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1	p.R97Q	ENST00000258962.4	37	c.290	CCDS11600.1	17	.	.	.	.	.	.	.	.	.	.	C	17.08	3.296957	0.60086	.	.	ENSG00000136450	ENST00000258962	T	0.06294	3.32	5.86	5.86	0.93980	Nucleotide-binding, alpha-beta plait (1);	0.082940	0.48286	D	0.000191	T	0.06600	0.0169	N	0.25485	0.75	0.54753	D	0.999987	B;B	0.23650	0.011;0.089	B;B	0.15484	0.008;0.013	T	0.45352	-0.9267	10	0.21014	T	0.42	.	19.798	0.96494	0.0:1.0:0.0:0.0	.	129;97	Q59FA2;Q07955	.;SRSF1_HUMAN	Q	97	ENSP00000258962:R97Q	ENSP00000258962:R97Q	R	-	2	0	SRSF1	53438792	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.923000	0.75817	2.765000	0.95021	0.655000	0.94253	CGA	-	superfamily_RNA-binding domain RBD		0.647	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFRS1	protein_coding	OTTHUMT00000443335.1	C	NM_006924		53438792	-1	no_errors	NM_006924	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
RB1CC1	9821	genome.wustl.edu	37	8	53573196	53573196	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr8:53573196C>A	ENST00000025008.5	-	12	2172	c.1649G>T	c.(1648-1650)cGt>cTt	p.R550L	RB1CC1_ENST00000435644.2_Missense_Mutation_p.R550L|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R550L	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	550					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CCTAAACAGACGATTTCTTAA	0.313																																					GBM(180;1701 2102 13475 42023 52570)											0			8											46.0	53.0	51.0					8																	53573196		2203	4298	6501	53735749	SO:0001583	missense	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1649G>T	8.37:g.53573196C>A	ENSP00000025008:p.Arg550Leu		53735749	Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	superfamily_SSF54236,HMMPfam_ATG11	p.R550L	ENST00000025008.5	37	c.1649	CCDS34892.1	8	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175504	0.78564	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.15718	2.41;2.4;2.4	5.29	2.46	0.29980	.	0.189753	0.46758	D	0.000266	T	0.24624	0.0597	L	0.60455	1.87	0.58432	D	0.999997	D;D	0.58620	0.983;0.971	P;P	0.53954	0.738;0.552	T	0.01287	-1.1395	10	0.51188	T	0.08	-13.5743	6.9738	0.24664	0.1427:0.7027:0.0:0.1546	.	550;550	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	L	550	ENSP00000025008:R550L;ENSP00000396067:R550L;ENSP00000445960:R550L	ENSP00000025008:R550L	R	-	2	0	RB1CC1	53735749	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.522000	0.53480	0.711000	0.32018	0.460000	0.39030	CGT	-	NULL		0.313	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	protein_coding	OTTHUMT00000378011.1	C	NM_014781		53735749	-1	no_errors	NM_014781	genbank	human	validated	54_36p	missense	SNP	1.000	A
ERBB3	2065	genome.wustl.edu	37	12	56495465	56495465	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr12:56495465G>A	ENST00000267101.3	+	28	4095	c.3655G>A	c.(3655-3657)Gag>Aag	p.E1219K	PA2G4_ENST00000552766.1_5'Flank|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000549832.1_Missense_Mutation_p.E339K|ERBB3_ENST00000415288.2_Missense_Mutation_p.E1160K|ERBB3_ENST00000553131.1_Missense_Mutation_p.E460K|RP11-603J24.17_ENST00000548595.1_RNA|ERBB3_ENST00000450146.2_Missense_Mutation_p.E576K|PA2G4_ENST00000303305.6_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1219					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TTCCCTTGAGGAGCTGGGTTA	0.547																																																0			12											98.0	85.0	90.0					12																	56495465		2203	4300	6503	54781732	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3655G>A	12.37:g.56495465G>A	ENSP00000267101:p.Glu1219Lys		54781732	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	superfamily_L domain-like,HMMPfam_Recep_L_domain,HMMSmart_SM00261,HMMPfam_Furin-like,superfamily_Growth factor receptor domain,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220	p.E1219K	ENST00000267101.3	37	c.3655	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087836	0.36855	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.79653	-1.16;-1.07;-1.15;-1.29;-1.02	5.63	4.75	0.60458	.	0.164589	0.41823	D	0.000803	T	0.64046	0.2563	N	0.14661	0.345	0.43698	D	0.996153	B;B;B	0.12013	0.0;0.001;0.005	B;B;B	0.12156	0.002;0.001;0.007	T	0.57510	-0.7799	10	0.24483	T	0.36	.	9.7768	0.40623	0.1587:0.0:0.8413:0.0	.	1160;339;1219	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	K	1219;576;1160;342;460;339	ENSP00000267101:E1219K;ENSP00000399178:E576K;ENSP00000408340:E1160K;ENSP00000449129:E460K;ENSP00000448729:E339K	ENSP00000267101:E1219K	E	+	1	0	ERBB3	54781732	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	3.809000	0.55606	1.387000	0.46486	-0.136000	0.14681	GAG	-	NULL		0.547	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	protein_coding	OTTHUMT00000407619.3	G			54781732	+1	no_errors	NM_001982	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ATP5E	514	genome.wustl.edu	37	20	57605470	57605470	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr20:57605470G>A	ENST00000243997.3	-	2	177	c.47C>T	c.(46-48)tCc>tTc	p.S16F	ATP5E_ENST00000395663.1_Missense_Mutation_p.S16F|ATP5E_ENST00000395659.1_Missense_Mutation_p.S16F	NM_006886.3	NP_008817.1	P56381	ATP5E_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit	16					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			skin(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)			ACAGATCTGGGAGTATCGGAT	0.403																																																0			20											95.0	93.0	93.0					20																	57605470		2203	4300	6503	57038865	SO:0001583	missense	514			AF077045	CCDS13476.1	20q13.3	2012-10-12			ENSG00000124172	ENSG00000124172		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	838	protein-coding gene	gene with protein product		606153				10727396	Standard	NM_006886		Approved		uc002yal.3	P56381	OTTHUMG00000032854	ENST00000243997.3:c.47C>T	20.37:g.57605470G>A	ENSP00000243997:p.Ser16Phe		57038865	B2RDD0|E1P5H6|Q53XU6	Missense_Mutation	SNP	superfamily_ATP_synth_E,HMMPfam_ATP-synt_Eps	p.S16F	ENST00000243997.3	37	c.47	CCDS13476.1	20	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275202	0.80580	.	.	ENSG00000124172	ENST00000243997;ENST00000395663;ENST00000395659	T;T;T	0.79940	-1.32;-1.32;-1.32	5.69	5.69	0.88448	.	0.000000	0.64402	U	0.000018	D	0.90403	0.6996	.	.	.	0.58432	D	0.999995	D	0.69078	0.997	D	0.81914	0.995	D	0.91150	0.4952	9	0.87932	D	0	.	18.7875	0.91961	0.0:0.0:1.0:0.0	.	16	P56381	ATP5E_HUMAN	F	16	ENSP00000243997:S16F;ENSP00000379023:S16F;ENSP00000379019:S16F	ENSP00000243997:S16F	S	-	2	0	ATP5E	57038865	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.102000	0.77005	2.673000	0.90976	0.563000	0.77884	TCC	-	superfamily_ATP_synth_E,HMMPfam_ATP-synt_Eps		0.403	ATP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5E	protein_coding	OTTHUMT00000079894.2	G	NM_001001977		57038865	-1	no_errors	NM_001001977	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
SERPINB13	5275	genome.wustl.edu	37	18	61261713	61261713	+	Missense_Mutation	SNP	G	G	C	rs377348890		TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr18:61261713G>C	ENST00000344731.5	+	6	699	c.597G>C	c.(595-597)gaG>gaC	p.E199D	SERPINB13_ENST00000269489.5_Missense_Mutation_p.E199D	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	199					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CTAAGGAAGAGAAATTTTGGA	0.408																																																0			18											86.0	85.0	85.0					18																	61261713		2203	4300	6503	59412693	SO:0001583	missense	5275			AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.597G>C	18.37:g.61261713G>C	ENSP00000341584:p.Glu199Asp		59412693	A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	HMMPfam_Serpin,superfamily_Serpins,HMMSmart_SM00093,PatternScan_SERPIN	p.E199D	ENST00000344731.5	37	c.597	CCDS11985.1	18	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857911	0.32791	.	.	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	D;D	0.84442	-1.85;-1.85	5.73	-2.46	0.06461	Serpin domain (3);	0.117465	0.38492	N	0.001668	D	0.85344	0.5675	L	0.42686	1.345	0.09310	N	1	B;P;D	0.76494	0.104;0.798;0.999	B;B;D	0.80764	0.203;0.348;0.994	T	0.77138	-0.2698	10	0.44086	T	0.13	.	8.3489	0.32290	0.5586:0.1117:0.3297:0.0	.	208;117;199	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	D	199;117;199	ENSP00000269489:E199D;ENSP00000341584:E199D	ENSP00000269489:E199D	E	+	3	2	SERPINB13	59412693	0.000000	0.05858	0.583000	0.28640	0.981000	0.71138	-1.429000	0.02437	-0.314000	0.08716	0.655000	0.94253	GAG	-	HMMPfam_Serpin,superfamily_Serpins,HMMSmart_SM00093		0.408	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB13	protein_coding	OTTHUMT00000133798.1	G	NM_012397		59412693	+1	no_errors	NM_012397	genbank	human	validated	54_36p	missense	SNP	0.000	C
SERPINB4	6318	genome.wustl.edu	37	18	61304988	61304988	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr18:61304988T>A	ENST00000341074.5	-	8	1253	c.1138A>T	c.(1138-1140)Agc>Tgc	p.S380C	SERPINB4_ENST00000356424.6_Missense_Mutation_p.S328C	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	380					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AAGAGGATGCTGTTGGTCTTA	0.398																																																0			18											182.0	176.0	178.0					18																	61304988		2203	4300	6503	59455968	SO:0001583	missense	6318			X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.1138A>T	18.37:g.61304988T>A	ENSP00000343445:p.Ser380Cys		59455968	A8K847	Missense_Mutation	SNP	HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN,PatternScan_SERPIN	p.S380C	ENST00000341074.5	37	c.1138	CCDS11986.1	18	.	.	.	.	.	.	.	.	.	.	T	14.51	2.555844	0.45487	.	.	ENSG00000206073	ENST00000341074;ENST00000356424	D;D	0.85556	-2.0;-2.0	4.51	-1.24	0.09435	Serpin domain (3);	0.572145	0.15774	N	0.245307	D	0.89979	0.6872	M	0.85859	2.78	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.992	T	0.80058	-0.1541	10	0.87932	D	0	.	3.9833	0.09504	0.2591:0.1515:0.0:0.5895	.	380;380;359	Q5K684;P48594;Q9BYF7	.;SPB4_HUMAN;.	C	380;328	ENSP00000343445:S380C;ENSP00000348795:S328C	ENSP00000343445:S380C	S	-	1	0	SERPINB4	59455968	0.000000	0.05858	0.033000	0.17914	0.731000	0.41821	0.610000	0.24253	-0.271000	0.09272	-0.315000	0.08773	AGC	-	HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN		0.398	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB4	protein_coding	OTTHUMT00000133794.2	T	NM_175041		59455968	-1	no_errors	NM_002974	genbank	human	validated	54_36p	missense	SNP	0.076	A
NLRP4	147945	genome.wustl.edu	37	19	56369885	56369885	+	Missense_Mutation	SNP	G	G	A	rs149428225		TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr19:56369885G>A	ENST00000301295.6	+	3	1548	c.1126G>A	c.(1126-1128)Gtc>Atc	p.V376I	NLRP4_ENST00000587891.1_Missense_Mutation_p.V301I|NLRP4_ENST00000346986.5_Missense_Mutation_p.V376I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	376	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTCCTCTTTCGTCTTTAACCT	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17572	0.0		0.0	False		,,,				2504	0.0															0			19						G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	53.0	47.0	49.0		1126	-7.1	0.0	19	dbSNP_134	49	0,8600		0,0,4300	no	missense	NLRP4	NM_134444.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	376/995	56369885	1,13005	2203	4300	6503	61061697	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1126G>A	19.37:g.56369885G>A	ENSP00000301295:p.Val376Ile		61061697	Q86W87|Q96AY6	Missense_Mutation	SNP	superfamily_DEATH domain,HMMPfam_PAAD_DAPIN,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368	p.V376I	ENST00000301295.6	37	c.1126	CCDS12936.1	19	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	0.070	-1.205152	0.01568	2.27E-4	0.0	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.83914	-1.78;-1.78	4.1	-7.05	0.01573	.	.	.	.	.	T	0.52500	0.1738	N	0.04203	-0.255	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.001	T	0.47328	-0.9126	9	0.17832	T	0.49	.	0.214	0.00159	0.3007:0.236:0.2326:0.2307	.	376;301;376	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	I	376	ENSP00000301295:V376I;ENSP00000344787:V376I	ENSP00000301295:V376I	V	+	1	0	NLRP4	61061697	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.483000	0.00980	-1.902000	0.01094	-1.021000	0.02439	GTC	-	NULL		0.577	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	protein_coding	OTTHUMT00000457367.2	G	NM_134444		61061697	+1	no_errors	NM_134444	genbank	human	validated	54_36p	missense	SNP	0.000	A
TMEM5-AS1	104169670	genome.wustl.edu	37	12	64217085	64217085	+	RNA	SNP	G	G	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr12:64217085G>A	ENST00000546214.1	-	0	0									TMEM5 antisense RNA 1																		GCTCAACTAAGACCAAGTCCT	0.542																																																0			12																																								62503352			341315			DB026756		12q14.2	2013-07-04			ENSG00000255850	ENSG00000255850		"""Long non-coding RNAs"""	48910	non-coding RNA	RNA, long non-coding							Standard			Approved				OTTHUMG00000168731		12.37:g.64217085G>A			62503352		RNA	SNP	-	NULL	ENST00000546214.1	37	NULL		12																																																																																			-	-		0.542	TMEM5-AS1-001	KNOWN	basic	antisense	LOC341315	antisense	OTTHUMT00000400829.1	G			62503352	+1	pseudogene	XR_017616	genbank	human	model	54_36p	rna	SNP	1.000	A
DNAJC6	9829	genome.wustl.edu	37	1	65830389	65830389	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr1:65830389A>G	ENST00000395325.3	+	2	251	c.94A>G	c.(94-96)Agg>Ggg	p.R32G	DNAJC6_ENST00000371069.4_Missense_Mutation_p.R89G|DNAJC6_ENST00000263441.7_Missense_Mutation_p.R19G	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	32					cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AGGTGCAGGGAGGCTCTTTAG	0.448																																																0			1											129.0	120.0	123.0					1																	65830389		2203	4300	6503	65602977	SO:0001583	missense	9829			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.94A>G	1.37:g.65830389A>G	ENSP00000378735:p.Arg32Gly		65602977	B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ	p.R32G	ENST00000395325.3	37	c.94	CCDS30739.1	1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.474970	0.63737	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.93426	-3.22;-3.2;-3.21	5.63	0.0371	0.14195	.	0.109102	0.64402	D	0.000007	D	0.91287	0.7253	L	0.54323	1.7	0.36873	D	0.889019	P;P;P	0.52316	0.917;0.761;0.952	P;B;P	0.52481	0.62;0.366;0.7	D	0.90895	0.4764	10	0.66056	D	0.02	.	15.5318	0.75970	0.413:0.587:0.0:0.0	.	89;32;19	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	G	19;32;89	ENSP00000263441:R19G;ENSP00000378735:R32G;ENSP00000360108:R89G	ENSP00000263441:R19G	R	+	1	2	DNAJC6	65602977	0.852000	0.29690	0.980000	0.43619	0.965000	0.64279	1.225000	0.32551	0.385000	0.24970	0.528000	0.53228	AGG	-	NULL		0.448	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	DNAJC6	protein_coding	OTTHUMT00000025134.1	A			65602977	+1	no_errors	NM_014787	genbank	human	validated	54_36p	missense	SNP	0.596	G
EYS	346007	genome.wustl.edu	37	6	66112466	66112466	+	Silent	SNP	T	T	G	rs370471214		TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr6:66112466T>G	ENST00000370621.3	-	7	1615	c.1089A>C	c.(1087-1089)acA>acC	p.T363T	EYS_ENST00000393380.2_Silent_p.T363T|EYS_ENST00000342421.5_Silent_p.T363T|EYS_ENST00000370618.3_Silent_p.T363T|EYS_ENST00000503581.1_Silent_p.T363T|EYS_ENST00000370616.2_Silent_p.T363T			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	363	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAAGCAAATCTGTAAATATTG	0.303																																																0			6						T	,,	0,4402		0,0,2201	60.0	59.0	59.0		1089,1089,1089	4.5	0.0	6		59	1,8567	1.2+/-3.3	0,1,4283	no	coding-synonymous,coding-synonymous,coding-synonymous	EYS	NM_001142800.1,NM_001142801.1,NM_198283.1	,,	0,1,6484	GG,GT,TT		0.0117,0.0,0.0077	,,	363/3145,363/620,363/595	66112466	1,12969	2201	4284	6485	66169187	SO:0001819	synonymous_variant	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1089A>C	6.37:g.66112466T>G			66169187	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00179	p.T363	ENST00000370621.3	37	c.1089		6																																																																																			-	HMMSmart_SM00181,superfamily_EGF/Laminin		0.303	EYS-001	KNOWN	basic	protein_coding	EYS	protein_coding	OTTHUMT00000351351.3	T	XM_294050		66169187	-1	no_errors	NM_198283	genbank	human	reviewed	54_36p	silent	SNP	0.008	G
CENPC	1060	genome.wustl.edu	37	4	68384043	68384043	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr4:68384043C>G	ENST00000273853.6	-	7	911	c.661G>C	c.(661-663)Gat>Cat	p.D221H		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	221					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										ACTTTATTATCTATTTCTATT	0.313																																																0			4											35.0	31.0	32.0					4																	68384043		1775	4008	5783	68066638	SO:0001583	missense	1060			M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.661G>C	4.37:g.68384043C>G	ENSP00000273853:p.Asp221His		68066638	Q8IW27|Q9P0M5	Missense_Mutation	SNP	superfamily_RmlC-like cupins,HMMPfam_Cupin_2	p.D221H	ENST00000273853.6	37	c.661	CCDS47063.1	4	.	.	.	.	.	.	.	.	.	.	C	7.236	0.600265	0.13939	.	.	ENSG00000145241	ENST00000273853	.	.	.	3.76	1.84	0.25277	.	0.580111	0.15559	N	0.256033	T	0.21227	0.0511	N	0.22421	0.69	0.09310	N	1	P;P	0.36944	0.574;0.574	B;B	0.34824	0.19;0.19	T	0.10474	-1.0628	9	0.56958	D	0.05	-0.0311	6.0169	0.19608	0.0:0.7335:0.0:0.2665	.	221;221	Q8IW27;Q03188	.;CENPC_HUMAN	H	221	.	ENSP00000273853:D221H	D	-	1	0	CENPC1	68066638	0.004000	0.15560	0.004000	0.12327	0.098000	0.18820	1.155000	0.31700	0.313000	0.23062	0.591000	0.81541	GAT	-	NULL		0.313	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPC1	protein_coding	OTTHUMT00000362001.2	C			68066638	-1	no_errors	NM_001812	genbank	human	reviewed	54_36p	missense	SNP	0.005	G
Unknown	0	genome.wustl.edu	37	8	70042266	70042266	+	IGR	SNP	G	G	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr8:70042266G>A								RNU7-102P (19457 upstream) : RP11-21C17.1 (45547 downstream)																							AGCGTGCAGAGATGCGTGCGG	0.507																																																0			8																																								70204820	SO:0001628	intergenic_variant	0																															8.37:g.70042266G>A			70204820		RNA	SNP	-	NULL		37	NULL		8																																																																																			-	-	0	0.507					LOC100129096			G			70204820	+1	pseudogene	XR_037300	genbank	human	model	54_36p	rna	SNP	0.874	A
UGT2A1	10941	genome.wustl.edu	37	4	70513038	70513038	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr4:70513038G>C	ENST00000503640.1	-	1	380	c.325C>G	c.(325-327)Cag>Gag	p.Q109E	UGT2A1_ENST00000514019.1_Missense_Mutation_p.Q109E|UGT2A1_ENST00000512704.1_Missense_Mutation_p.Q109E|UGT2A1_ENST00000286604.4_Missense_Mutation_p.Q109E	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	109					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GCCATCTCCTGATAGAATCTC	0.423																																																0			4											91.0	86.0	87.0					4																	70513038		2203	4298	6501	70547627	SO:0001583	missense	10941			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.325C>G	4.37:g.70513038G>C	ENSP00000424478:p.Gln109Glu		70547627	B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT	p.Q109E	ENST00000503640.1	37	c.325	CCDS3529.1	4	.	.	.	.	.	.	.	.	.	.	G	8.865	0.947847	0.18356	.	.	ENSG00000173610	ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604;ENST00000505512	T;T;T;T;T	0.61859	0.39;0.07;0.39;0.39;0.39	5.78	1.44	0.22558	.	1.290410	0.04893	N	0.450015	T	0.44953	0.1318	L	0.28400	0.85	.	.	.	P;B;B;B	0.41313	0.745;0.104;0.059;0.047	B;B;B;B	0.39258	0.295;0.062;0.033;0.024	T	0.42137	-0.9469	9	0.30078	T	0.28	.	6.892	0.24234	0.09:0.0:0.3015:0.6084	.	109;109;109;109	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1	.;.;.;UD2A1_HUMAN	E	109	ENSP00000424478:Q109E;ENSP00000421432:Q109E;ENSP00000425497:Q109E;ENSP00000286604:Q109E;ENSP00000427709:Q109E	ENSP00000286604:Q109E	Q	-	1	0	UGT2A1	70547627	0.145000	0.22656	0.802000	0.32245	0.415000	0.31203	0.403000	0.20982	0.730000	0.32425	0.591000	0.81541	CAG	-	superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT		0.423	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2A1	protein_coding	OTTHUMT00000251554.3	G	NM_006798		70547627	-1	no_errors	NM_006798	genbank	human	validated	54_36p	missense	SNP	0.190	C
SIPA1L1	26037	genome.wustl.edu	37	14	72205845	72205845	+	Silent	SNP	A	A	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr14:72205845A>G	ENST00000555818.1	+	22	5730	c.5382A>G	c.(5380-5382)acA>acG	p.T1794T	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Silent_p.T1247T|SIPA1L1_ENST00000358550.2_Silent_p.T1772T|SIPA1L1_ENST00000381232.3_Silent_p.T1773T	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1794					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AGAAGTTCACAGAATGGGTCT	0.562																																																0			14											91.0	87.0	89.0					14																	72205845		2203	4300	6503	71275598	SO:0001819	synonymous_variant	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.5382A>G	14.37:g.72205845A>G			71275598	J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228	p.T1794	ENST00000555818.1	37	c.5382	CCDS9807.1	14																																																																																			-	NULL		0.562	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	protein_coding	OTTHUMT00000412806.1	A	NM_015556		71275598	+1	no_errors	NM_015556	genbank	human	provisional	54_36p	silent	SNP	0.025	G
ZFYVE1	53349	genome.wustl.edu	37	14	73464882	73464882	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr14:73464882T>C	ENST00000556143.1	-	3	1345	c.625A>G	c.(625-627)Aaa>Gaa	p.K209E	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.K209E|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.K209E	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	209					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GGGGAGGTTTTAAAGACTTCA	0.493																																																0			14											50.0	52.0	51.0					14																	73464882		2203	4300	6503	72534635	SO:0001583	missense	53349			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.625A>G	14.37:g.73464882T>C	ENSP00000450742:p.Lys209Glu		72534635	J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00064,HMMPfam_FYVE	p.K209E	ENST00000556143.1	37	c.625	CCDS9811.1	14	.	.	.	.	.	.	.	.	.	.	T	14.62	2.589073	0.46110	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.61274	0.12;0.12;0.12	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.58637	0.2136	M	0.74881	2.28	0.80722	D	1	B;B	0.29716	0.08;0.255	B;B	0.23275	0.045;0.038	T	0.59804	-0.7385	10	0.49607	T	0.09	-16.9174	16.1726	0.81828	0.0:0.0:0.0:1.0	.	209;209	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	E	209	ENSP00000452442:K209E;ENSP00000326921:K209E;ENSP00000450742:K209E	ENSP00000326921:K209E	K	-	1	0	ZFYVE1	72534635	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	6.186000	0.72026	2.232000	0.73038	0.482000	0.46254	AAA	-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.493	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE1	protein_coding	OTTHUMT00000413172.1	T	NM_021260		72534635	-1	no_errors	NM_021260	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
MYO7A	4647	genome.wustl.edu	37	11	76918343	76918343	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr11:76918343G>T	ENST00000409709.3	+	42	6024	c.5752G>T	c.(5752-5754)Gtg>Ttg	p.V1918L	MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Missense_Mutation_p.V1869L|MYO7A_ENST00000458637.2_Missense_Mutation_p.V1880L	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1918	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGCCTTCGAAGTGGAGTCCAG	0.607																																																0			11											38.0	43.0	41.0					11																	76918343		2051	4205	6256	76595991	SO:0001583	missense	4647			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.5752G>T	11.37:g.76918343G>T	ENSP00000386331:p.Val1918Leu		76595991	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,HMMSmart_SM00139,HMMPfam_MyTH4,HMMSmart_SM00295,HMMPfam_FERM_N,superfamily_Second domain of FERM,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_1,HMMPfam_FERM_M	p.V1880L	ENST00000409709.3	37	c.5638	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	g	33	5.235285	0.95207	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.01	5.01	0.66863	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.89966	0.6868	M	0.83312	2.635	0.80722	D	1	D;D	0.76494	0.999;0.995	D;P	0.66602	0.945;0.878	D	0.91185	0.4979	10	0.59425	D	0.04	.	18.3515	0.90339	0.0:0.0:1.0:0.0	.	1880;1918	F8VUN5;Q13402	.;MYO7A_HUMAN	L	1918;1880;1869;1091;1917;1887;1794;1060;533	ENSP00000386331:V1918L;ENSP00000392185:V1880L;ENSP00000386635:V1869L;ENSP00000417017:V1060L	ENSP00000345075:V1794L	V	+	1	0	MYO7A	76595991	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.530000	0.81962	2.326000	0.78906	0.550000	0.68814	GTG	-	HMMSmart_SM00295		0.607	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	protein_coding	OTTHUMT00000328133.1	G	NM_000260		76595991	+1	no_errors	NM_000260	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
PAK1	5058	genome.wustl.edu	37	11	77047308	77047308	+	Silent	SNP	T	T	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr11:77047308T>G	ENST00000356341.3	-	13	1767	c.1236A>C	c.(1234-1236)gcA>gcC	p.A412A	PAK1_ENST00000530617.1_Silent_p.A412A|PAK1_ENST00000278568.4_Silent_p.A412A|PAK1_ENST00000528203.1_Silent_p.A314A|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	412	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGGTTATCTGTGCACAGAATC	0.453																																																0			11											120.0	123.0	122.0					11																	77047308		2200	4292	6492	76724956	SO:0001819	synonymous_variant	5058			U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.1236A>C	11.37:g.77047308T>G			76724956	O75561|Q13567|Q32M53|Q32M54|Q86W79	Silent	SNP	HMMPfam_PBD,HMMSmart_SM00285,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.A412	ENST00000356341.3	37	c.1236	CCDS8250.1	11	.	.	.	.	.	.	.	.	.	.	T	10.78	1.446837	0.25987	.	.	ENSG00000149269	ENST00000533285	.	.	.	6.04	-0.243	0.13035	.	.	.	.	.	T	0.50582	0.1624	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37686	-0.9695	4	.	.	.	.	5.3323	0.15940	0.311:0.0:0.257:0.4319	.	.	.	.	P	134	.	.	T	-	1	0	PAK1	76724956	0.772000	0.28567	0.999000	0.59377	0.998000	0.95712	-0.042000	0.12063	0.043000	0.15746	0.460000	0.39030	ACA	-	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase		0.453	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAK1	protein_coding	OTTHUMT00000382083.2	T	NM_002576		76724956	-1	no_errors	NM_002576	genbank	human	reviewed	54_36p	silent	SNP	0.993	G
ALKBH1	8846	genome.wustl.edu	37	14	78161234	78161234	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr14:78161234A>C	ENST00000216489.3	-	3	317	c.302T>G	c.(301-303)tTt>tGt	p.F101C	ALKBH1_ENST00000554097.1_5'UTR	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	101					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GTTTGGGATAAAAATAAACCC	0.383																																																0			14											45.0	46.0	46.0					14																	78161234		2203	4300	6503	77230987	SO:0001583	missense	8846			X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"""Alkylation repair homologs"""	17911	protein-coding gene	gene with protein product		605345	"""alkB, alkylation repair homolog (E. coli)"""	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.302T>G	14.37:g.78161234A>C	ENSP00000216489:p.Phe101Cys		77230987	Q8TAU1|Q9ULA7	Missense_Mutation	SNP	NULL	p.F101C	ENST00000216489.3	37	c.302	CCDS32127.1	14	.	.	.	.	.	.	.	.	.	.	A	24.5	4.541162	0.85917	.	.	ENSG00000100601	ENST00000216489	T	0.11277	2.79	6.17	6.17	0.99709	.	0.088352	0.85682	D	0.000000	T	0.40839	0.1133	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41574	-0.9501	10	0.87932	D	0	-30.8441	16.8222	0.85835	1.0:0.0:0.0:0.0	.	101	Q13686	ALKB1_HUMAN	C	101	ENSP00000216489:F101C	ENSP00000216489:F101C	F	-	2	0	ALKBH1	77230987	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	8.806000	0.91930	2.371000	0.80710	0.533000	0.62120	TTT	-	NULL		0.383	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH1	protein_coding	OTTHUMT00000414037.1	A	NM_006020		77230987	-1	no_errors	NM_006020	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
AK5	26289	genome.wustl.edu	37	1	77883396	77883396	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr1:77883396A>G	ENST00000354567.2	+	8	1318	c.1055A>G	c.(1054-1056)gAt>gGt	p.D352G	RNU7-8P_ENST00000515958.1_RNA|AK5_ENST00000344720.5_Missense_Mutation_p.D326G	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	352					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GATTATGAAGATCAGGTAATT	0.289																																																0			1											84.0	80.0	81.0					1																	77883396		2203	4300	6503	77655984	SO:0001583	missense	26289			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1055A>G	1.37:g.77883396A>G	ENSP00000346577:p.Asp352Gly		77655984	Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	HMMPfam_Dpy-30,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ADK,PatternScan_ADENYLATE_KINASE	p.D352G	ENST00000354567.2	37	c.1055	CCDS675.1	1	.	.	.	.	.	.	.	.	.	.	A	14.10	2.433631	0.43224	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	T;T	0.71341	-0.56;-0.56	4.99	4.99	0.66335	.	0.203340	0.40818	N	0.001016	T	0.40040	0.1101	N	0.24115	0.695	0.80722	D	1	B	0.13594	0.008	B	0.14023	0.01	T	0.34650	-0.9820	10	0.17832	T	0.49	-3.7103	14.3567	0.66742	1.0:0.0:0.0:0.0	.	352	Q9Y6K8	KAD5_HUMAN	G	352;326	ENSP00000346577:D352G;ENSP00000341430:D326G	ENSP00000341430:D326G	D	+	2	0	AK5	77655984	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.728000	0.68531	2.183000	0.69458	0.533000	0.62120	GAT	-	NULL		0.289	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK5	protein_coding	OTTHUMT00000026993.4	A	NM_174858		77655984	+1	no_errors	NM_174858	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
PCLO	27445	genome.wustl.edu	37	7	82538330	82538330	+	Splice_Site	SNP	C	C	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr7:82538330C>A	ENST00000333891.9	-	8	13638		c.e8-1		PCLO_ENST00000423517.2_Splice_Site	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGATGATAGGCTTTGGACACC	0.443																																																0			7											77.0	69.0	72.0					7																	82538330		1955	4148	6103	82376266	SO:0001630	splice_region_variant	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13301-1G>T	7.37:g.82538330C>A			82376266		Splice_Site	SNP	-	e8-1	ENST00000333891.9	37	c.13301-1	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934043	0.92458	.	.	ENSG00000186472	ENST00000333891;ENST00000423517	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5274	0.95212	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCLO	82376266	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.647000	0.83462	2.699000	0.92147	0.591000	0.81541	.	-	-		0.443	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	C	NM_014510	Intron	82376266	-1	no_errors	NM_033026	genbank	human	validated	54_36p	splice_site	SNP	1.000	A
TCF7L1	83439	genome.wustl.edu	37	2	85489378	85489378	+	Intron	SNP	T	T	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr2:85489378T>C	ENST00000282111.3	+	4	716					NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)						anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						TATCTGAAGATGAGGTTGATG	0.473																																																0			2																																								85342889	SO:0001627	intron_variant	0			X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.442-21240T>C	2.37:g.85489378T>C			85342889	Q53R97|Q6PD70|Q9NP00	RNA	SNP	-	NULL	ENST00000282111.3	37	NULL	CCDS1971.1	2																																																																																			-	-		0.473	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100127915	protein_coding	OTTHUMT00000252301.2	T	NM_031283		85342889	-1	pseudogene	XR_039694	genbank	human	model	54_36p	rna	SNP	0.956	C
LRRK1	79705	genome.wustl.edu	37	15	101606080	101606080	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr15:101606080T>C	ENST00000388948.3	+	32	5797	c.5438T>C	c.(5437-5439)aTc>aCc	p.I1813T	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.I1810T|LRRK1_ENST00000532145.1_3'UTR	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGGGACTCCATCGCGGACGTG	0.622																																																0			15											55.0	64.0	61.0					15																	101606080		2078	4205	6283	99423603	SO:0001583	missense	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5438T>C	15.37:g.101606080T>C	ENSP00000373600:p.Ile1813Thr		99423603		Missense_Mutation	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_L domain-like,HMMSmart_SM00364,HMMSmart_SM00369,HMMPfam_LRR_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Miro,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220	p.I1813T	ENST00000388948.3	37	c.5438	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	T	6.521	0.464385	0.12402	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.72282	-0.62;-0.64	5.5	5.5	0.81552	.	0.645978	0.15492	N	0.259540	T	0.63010	0.2475	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.55988	-0.8053	10	0.54805	T	0.06	.	8.8772	0.35352	0.0:0.1456:0.0:0.8544	.	1813	Q38SD2	LRRK1_HUMAN	T	1813;1810;504;367	ENSP00000373600:I1813T;ENSP00000284395:I1810T	ENSP00000284395:I1810T	I	+	2	0	LRRK1	99423603	0.101000	0.21875	0.097000	0.21041	0.372000	0.29890	2.747000	0.47475	2.077000	0.62373	0.533000	0.62120	ATC	-	NULL		0.622	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	protein_coding	OTTHUMT00000384567.2	T	NM_024652		99423603	+1	no_errors	NM_024652	genbank	human	validated	54_36p	missense	SNP	0.001	C
DNM1P47	100216544	genome.wustl.edu	37	15	102311927	102311927	+	RNA	SNP	A	A	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr15:102311927A>T	ENST00000561463.1	+	0	13350				RN7SL209P_ENST00000488309.2_RNA					DNM1 pseudogene 47																		TCCTTTTTTAAAATTTCTTGA	0.388																																																0			15																																								100129450			441736			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102311927A>T			100129450		RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			-	-		0.388	DNM1P47-001	KNOWN	basic	processed_transcript	LOC441736	pseudogene	OTTHUMT00000417589.1	A	NG_009149		100129450	-1	pseudogene	XR_042320	genbank	human	model	54_36p	rna	SNP	0.874	T
PABPC1	26986	genome.wustl.edu	37	8	101721752	101721752	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr8:101721752T>G	ENST00000318607.5	-	8	2308	c.1180A>C	c.(1180-1182)Aac>Cac	p.N394H	AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000522387.1_Missense_Mutation_p.N362H|PABPC1_ENST00000519004.1_Missense_Mutation_p.N349H|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	394					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ATTACAGGGTTGGGAACAGCT	0.493																																																0			8											153.0	133.0	140.0					8																	101721752		2203	4300	6503	101790928	SO:0001583	missense	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1180A>C	8.37:g.101721752T>G	ENSP00000313007:p.Asn394His		101790928	Q15097|Q93004	Missense_Mutation	SNP	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,HMMSmart_SM00361,superfamily_PABC (PABP) domain,HMMPfam_PABP,HMMSmart_SM00517	p.N394H	ENST00000318607.5	37	c.1180	CCDS6289.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.72|15.72	2.916510|2.916510	0.52546|0.52546	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519596	T;T;T|.	0.31247|.	1.57;1.5;2.57|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.73892|0.73892	0.3645|0.3645	M|M	0.72894|0.72894	2.215|2.215	0.58432|0.58432	D|D	0.999995|0.999995	B;B;B|.	0.15141|.	0.006;0.012;0.012|.	B;B;B|.	0.19148|.	0.024;0.013;0.013|.	T|T	0.74432|0.74432	-0.3667|-0.3667	10|5	0.14656|.	T|.	0.56|.	.|.	15.6534|15.6534	0.77115|0.77115	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	362;394;394|.	E7ERJ7;B3KT93;P11940|.	.;.;PABP1_HUMAN|.	H|P	394;394;349;362|226	ENSP00000313007:N394H;ENSP00000429594:N349H;ENSP00000429395:N362H|.	ENSP00000313007:N394H|.	N|Q	-|-	1|2	0|0	PABPC1|PABPC1	101790928|101790928	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.010000|8.010000	0.88615|0.88615	2.160000|2.160000	0.67779|0.67779	0.528000|0.528000	0.53228|0.53228	AAC|CAA	-	superfamily_RNA-binding domain RBD		0.493	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC1	protein_coding	OTTHUMT00000380217.1	T	NM_002568		101790928	-1	no_errors	NM_002568	genbank	human	validated	54_36p	missense	SNP	1.000	G
NRCAM	4897	genome.wustl.edu	37	7	107825024	107825024	+	Silent	SNP	C	C	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr7:107825024C>T	ENST00000425651.2	-	18	2069	c.2070G>A	c.(2068-2070)aaG>aaA	p.K690K	NRCAM_ENST00000379022.4_Silent_p.K690K|NRCAM_ENST00000351718.4_Silent_p.K674K|NRCAM_ENST00000413765.2_Silent_p.K671K|NRCAM_ENST00000379028.3_Silent_p.K690K|NRCAM_ENST00000379024.4_Silent_p.K671K	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	690	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ACAGCCCTGGCTTGTGCATTG	0.517																																																0			7											77.0	74.0	75.0					7																	107825024		2203	4300	6503	107612260	SO:0001819	synonymous_variant	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2070G>A	7.37:g.107825024C>T			107612260	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,PatternScan_IG_MHC,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3	p.K690	ENST00000425651.2	37	c.2070	CCDS47686.1	7																																																																																			-	superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3		0.517	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	protein_coding	OTTHUMT00000337942.2	C	NM_001037132		107612260	-1	no_errors	NM_001037132	genbank	human	reviewed	54_36p	silent	SNP	0.821	T
TMEM74	157753	genome.wustl.edu	37	8	109796905	109796905	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr8:109796905C>G	ENST00000297459.3	-	2	601	c.423G>C	c.(421-423)tgG>tgC	p.W141C	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	141					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TTGGATTTTCCCAGCCAAGCT	0.473																																																0			8											74.0	79.0	77.0					8																	109796905		2203	4300	6503	109866081	SO:0001583	missense	157753			AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.423G>C	8.37:g.109796905C>G	ENSP00000297459:p.Trp141Cys		109866081		Missense_Mutation	SNP	NULL	p.W141C	ENST00000297459.3	37	c.423	CCDS6310.1	8	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057291	0.36277	.	.	ENSG00000164841	ENST00000297459	.	.	.	5.96	5.96	0.96718	.	0.275088	0.32444	N	0.006095	T	0.54743	0.1877	N	0.19112	0.55	0.49483	D	0.999795	D	0.69078	0.997	P	0.60236	0.871	T	0.56056	-0.8042	9	0.52906	T	0.07	-13.9937	14.5422	0.68002	0.0:0.9304:0.0:0.0696	.	141	Q96NL1	TMM74_HUMAN	C	141	.	ENSP00000297459:W141C	W	-	3	0	TMEM74	109866081	0.993000	0.37304	1.000000	0.80357	0.954000	0.61252	0.374000	0.20501	2.826000	0.97356	0.655000	0.94253	TGG	-	NULL		0.473	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM74	protein_coding	OTTHUMT00000380755.1	C	NM_153015		109866081	-1	no_errors	NM_153015	genbank	human	provisional	54_36p	missense	SNP	0.959	G
TECTA	7007	genome.wustl.edu	37	11	120998955	120998955	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr11:120998955A>G	ENST00000392793.1	+	9	2540	c.2269A>G	c.(2269-2271)Aag>Gag	p.K757E	TECTA_ENST00000264037.2_Missense_Mutation_p.K757E			O75443	TECTA_HUMAN	tectorin alpha	757	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CATCAACAAGAAGAAGCCCGA	0.597																																																0			11											65.0	70.0	68.0					11																	120998955		2203	4299	6502	120504165	SO:0001583	missense	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2269A>G	11.37:g.120998955A>G	ENSP00000376543:p.Lys757Glu		120504165		Missense_Mutation	SNP	HMMSmart_SM00539,HMMPfam_NIDO,HMMSmart_SM00215,HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,HMMSmart_SM00181,PatternScan_EGF_2,PatternScan_FA58C_2,HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1,superfamily_EGF/Laminin	p.K757E	ENST00000392793.1	37	c.2269	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	A	18.22	3.576326	0.65878	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.61274	0.12;0.12	5.67	5.67	0.87782	von Willebrand factor, type D domain (3);	0.246048	0.42053	D	0.000761	T	0.63367	0.2505	L	0.43152	1.355	0.36075	D	0.842379	D	0.54964	0.969	P	0.57324	0.818	T	0.64918	-0.6294	10	0.18710	T	0.47	.	15.9056	0.79427	1.0:0.0:0.0:0.0	.	757	O75443	TECTA_HUMAN	E	757	ENSP00000376543:K757E;ENSP00000264037:K757E	ENSP00000264037:K757E	K	+	1	0	TECTA	120504165	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.478000	0.66806	2.157000	0.67596	0.533000	0.62120	AAG	-	HMMSmart_SM00216,HMMPfam_VWD		0.597	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	protein_coding	OTTHUMT00000313850.1	A	NM_005422		120504165	+1	no_errors	NM_005422	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
DIABLO	56616	genome.wustl.edu	37	12	122701099	122701099	+	Silent	SNP	C	C	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr12:122701099C>T	ENST00000443649.3	-	6	1276	c.459G>A	c.(457-459)ctG>ctA	p.L153L	RP11-512M8.5_ENST00000535844.1_3'UTR|DIABLO_ENST00000464942.2_Silent_p.L100L|DIABLO_ENST00000413918.1_Silent_p.L109L|DIABLO_ENST00000353548.6_Silent_p.L109L|DIABLO_ENST00000267169.6_Silent_p.L100L	NM_019887.4	NP_063940.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	153					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)				breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		AAGTGGTTTCCAGCTTCAAGT	0.383																																																0			12											125.0	125.0	125.0					12																	122701099		2203	4300	6503	121267052	SO:0001819	synonymous_variant	56616			AF262240	CCDS9228.1, CCDS9229.1, CCDS73541.1	12q24.31	2011-08-02	2011-03-11		ENSG00000184047	ENSG00000184047			21528	protein-coding gene	gene with protein product	"""second mitochondria-derived activator of caspase"""	605219				12749848, 17237824, 21722859	Standard	NM_019887		Approved	SMAC, DIABLO-S, FLJ25049, FLJ10537, DFNA64	uc010tab.2	Q9NR28	OTTHUMG00000157014	ENST00000443649.3:c.459G>A	12.37:g.122701099C>T			121267052	B2RDQ0|Q6W3F3|Q96LV0|Q9BT11|Q9HAV6	Silent	SNP	HMMPfam_Smac_DIABLO,superfamily_Smac/diablo	p.L153	ENST00000443649.3	37	c.459	CCDS9228.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.028|9.028	0.986517|0.986517	0.18889|0.18889	.|.	.|.	ENSG00000184047|ENSG00000184047	ENST00000446652|ENST00000439489	.|.	.|.	.|.	6.08|6.08	0.546|0.546	0.17196|0.17196	.|.	.|.	.|.	.|.	.|.	T|.	0.50803|.	0.1637|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36625|.	-0.9740|.	4|.	.|.	.|.	.|.	0.3283|0.3283	5.1146|5.1146	0.14827|0.14827	0.2253:0.4443:0.0:0.3304|0.2253:0.4443:0.0:0.3304	.|.	.|.	.|.	.|.	R|X	152|49	.|.	.|.	G|W	-|-	1|2	0|0	DIABLO|DIABLO	121267052|121267052	0.934000|0.934000	0.31675|0.31675	0.918000|0.918000	0.36340|0.36340	0.985000|0.985000	0.73830|0.73830	-0.068000|-0.068000	0.11561|0.11561	0.155000|0.155000	0.19261|0.19261	-0.218000|-0.218000	0.12543|0.12543	GGA|TGG	-	HMMPfam_Smac_DIABLO,superfamily_Smac/diablo		0.383	DIABLO-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DIABLO	protein_coding	OTTHUMT00000347102.2	C	NM_019887		121267052	-1	no_errors	NM_019887	genbank	human	reviewed	54_36p	silent	SNP	0.985	T
PTPRZ1	5803	genome.wustl.edu	37	7	121651515	121651515	+	Silent	SNP	G	G	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr7:121651515G>A	ENST00000393386.2	+	12	2826	c.2415G>A	c.(2413-2415)gtG>gtA	p.V805V	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	805					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GTGTCGATGTGTCATTTGAAT	0.463																																																0			7											292.0	242.0	259.0					7																	121651515		2203	4300	6503	121438751	SO:0001819	synonymous_variant	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2415G>A	7.37:g.121651515G>A			121438751	A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1	p.V805	ENST00000393386.2	37	c.2415	CCDS34740.1	7																																																																																			-	NULL		0.463	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	protein_coding	OTTHUMT00000347288.1	G	NM_002851		121438751	+1	no_errors	NM_002851	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
DMBT1	1755	genome.wustl.edu	37	10	124361450	124361450	+	Silent	SNP	A	A	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr10:124361450A>C	ENST00000338354.3	+	29	3587	c.3481A>C	c.(3481-3483)Agg>Cgg	p.R1161R	DMBT1_ENST00000368955.3_Silent_p.R1151R|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Silent_p.R662R|DMBT1_ENST00000344338.3_Silent_p.R1151R|DMBT1_ENST00000330163.4_Silent_p.R662R|DMBT1_ENST00000368909.3_Silent_p.R1161R			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1161	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTGGTTTGCAGGCAGCTGGG	0.602																																					Ovarian(182;93 2026 18125 22222 38972)											0			10											11.0	17.0	16.0					10																	124361450		574	2247	2821	124351440	SO:0001819	synonymous_variant	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.3481A>C	10.37:g.124361450A>C			124351440	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1	p.R1161	ENST00000338354.3	37	c.3481		10																																																																																			-	superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1		0.602	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	protein_coding	OTTHUMT00000050792.2	A	NM_004406		124351440	+1	no_errors	NM_007329	genbank	human	reviewed	54_36p	silent	SNP	1.000	C
LOC399815	399815	genome.wustl.edu	37	10	124654265	124654265	+	RNA	SNP	A	A	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr10:124654265A>G	ENST00000425266.1	+	0	291																											GGAAAGAAAGAAGCCACGTCT	0.383																																																0			10																																								124644255			0																															10.37:g.124654265A>G			124644255		Missense_Mutation	SNP	HMMPfam_HMG14_17,HMMSmart_HMG17	p.E87G	ENST00000425266.1	37	c.260		10																																																																																			-	HMMPfam_HMG14_17		0.383	RP11-564D11.3-002	PUTATIVE	basic	processed_transcript	ENSG00000197366	pseudogene	OTTHUMT00000331659.1	A			124644255	+1	no_start_codon:no_stop_codon	ENST00000332595	ensembl	human	known	54_36p	missense	SNP	0.991	G
GARNL3	84253	genome.wustl.edu	37	9	130155530	130155530	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr9:130155530G>C	ENST00000373387.4	+	28	3391	c.3039G>C	c.(3037-3039)aaG>aaC	p.K1013N	GARNL3_ENST00000314904.5_3'UTR|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.K991N	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	1013					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TAGACTTGAAGTAACAGAGTT	0.453																																																0			9											62.0	72.0	68.0					9																	130155530		2203	4300	6503	129195351	SO:0001583	missense	84253			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.3039G>C	9.37:g.130155530G>C	ENSP00000362485:p.Lys1013Asn		129195351	B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP,HMMSmart_SM00036,HMMPfam_CNH	p.K995N	ENST00000373387.4	37	c.2985	CCDS6869.2	9	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797050	0.70567	.	.	ENSG00000136895	ENST00000435213;ENST00000373387	D;D	0.90844	-2.72;-2.74	5.58	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.91129	0.7207	L	0.29908	0.895	0.80722	D	1	D;D	0.57899	0.981;0.981	D;D	0.69824	0.966;0.966	D	0.89852	0.4010	9	.	.	.	.	12.6621	0.56820	0.0818:0.0:0.9182:0.0	.	1013;991	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	N	991;1013	ENSP00000396205:K991N;ENSP00000362485:K1013N	.	K	+	3	2	GARNL3	129195351	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	1.591000	0.36665	1.454000	0.47793	0.655000	0.94253	AAG	-	NULL		0.453	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GARNL3	protein_coding	OTTHUMT00000054151.3	G	NM_032293		129195351	+1	no_errors	NM_032293	genbank	human	validated	54_36p	missense	SNP	1.000	C
TG	7038	genome.wustl.edu	37	8	133900278	133900278	+	Silent	SNP	G	G	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr8:133900278G>A	ENST00000220616.4	+	10	2266	c.2226G>A	c.(2224-2226)gtG>gtA	p.V742V	TG_ENST00000377869.1_Silent_p.V742V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	742	Thyroglobulin type-1 7. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCAGGACGGTGCAGGCCCTGC	0.527																																																0			8											69.0	54.0	59.0					8																	133900278		2203	4300	6503	133969460	SO:0001819	synonymous_variant	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2226G>A	8.37:g.133900278G>A			133969460	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_SM00211,superfamily_TNF receptor-like,HMMPfam_GCC2_GCC3,HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases,PatternScan_CARBOXYLESTERASE_B_2	p.V742	ENST00000220616.4	37	c.2226	CCDS34944.1	8																																																																																			-	superfamily_Thyroglobulin type-1 domain		0.527	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	protein_coding	OTTHUMT00000379606.1	G	NM_003235		133969460	+1	no_errors	NM_003235	genbank	human	validated	54_36p	silent	SNP	0.000	A
VAV2	7410	genome.wustl.edu	37	9	136661570	136661570	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr9:136661570T>A	ENST00000371850.3	-	11	1044	c.1013A>T	c.(1012-1014)aAa>aTa	p.K338I	VAV2_ENST00000371851.1_Missense_Mutation_p.K333I|VAV2_ENST00000406606.3_Missense_Mutation_p.K333I	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	338	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CAGGTGGTATTTGAGCACCCT	0.607																																																0			9											88.0	73.0	78.0					9																	136661570		2203	4300	6503	135651391	SO:0001583	missense	7410				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1013A>T	9.37:g.136661570T>A	ENSP00000360916:p.Lys338Ile		135651391	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	HMMPfam_CH,superfamily_Calponin-homology,HMMSmart_CH,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,PatternScan_DH_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,superfamily_SSF57889,HMMPfam_C1_1,superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_2,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,HMMPfam_SH3_1	p.K333I	ENST00000371850.3	37	c.998	CCDS48053.1	9	.	.	.	.	.	.	.	.	.	.	T	24.4	4.523428	0.85600	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.75367	-0.93;-0.93;-0.93	4.24	4.24	0.50183	Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.88948	0.6576	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	1.0;0.999	D	0.91729	0.5395	10	0.87932	D	0	.	13.649	0.62299	0.0:0.0:0.0:1.0	.	338;333	P52735;P52735-3	VAV2_HUMAN;.	I	338;333;333;333	ENSP00000360916:K338I;ENSP00000360917:K333I;ENSP00000385362:K333I	ENSP00000317258:K333I	K	-	2	0	VAV2	135651391	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.480000	0.81109	1.697000	0.51169	0.379000	0.24179	AAA	-	superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,PatternScan_DH_1		0.607	VAV2-001	KNOWN	basic|CCDS	protein_coding	VAV2	protein_coding	OTTHUMT00000054939.1	T			135651391	-1	no_errors	NM_003371	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ANKRD35	148741	genome.wustl.edu	37	1	145562132	145562132	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr1:145562132G>A	ENST00000355594.4	+	10	1907	c.1820G>A	c.(1819-1821)gGc>gAc	p.G607D		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	607										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCCTAGGAGGCCTGGCAAAG	0.592																																					Melanoma(9;127 754 22988 51047)											0			1											37.0	45.0	43.0					1																	145562132		2203	4300	6503	144273489	SO:0001583	missense	148741			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1820G>A	1.37:g.145562132G>A	ENSP00000347802:p.Gly607Asp		144273489	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank	p.G607D	ENST00000355594.4	37	c.1820	CCDS919.1	1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511723	0.44660	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.47177	0.85	4.8	2.78	0.32641	.	0.000000	0.38492	N	0.001680	T	0.26376	0.0644	M	0.68317	2.08	0.23813	N	0.99678	P	0.38195	0.622	B	0.38106	0.265	T	0.06881	-1.0802	10	0.46703	T	0.11	-3.8566	7.9385	0.29944	0.0:0.1747:0.6448:0.1805	.	607	Q8N283	ANR35_HUMAN	D	516;607	ENSP00000347802:G607D	ENSP00000347802:G607D	G	+	2	0	ANKRD35	144273489	0.002000	0.14202	0.447000	0.26932	0.962000	0.63368	0.778000	0.26732	0.981000	0.38548	0.655000	0.94253	GGC	-	NULL		0.592	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD35	protein_coding	OTTHUMT00000038515.1	G	NM_144698		144273489	+1	no_errors	NM_144698	genbank	human	validated	54_36p	missense	SNP	0.973	A
BCL9	607	genome.wustl.edu	37	1	147084918	147084918	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr1:147084918G>C	ENST00000234739.3	+	5	1030	c.290G>C	c.(289-291)gGg>gCg	p.G97A	BCL9_ENST00000473292.1_Intron	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	97					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AAGGGCAAGGGGAAAAGGGAG	0.527			T	"""IGH@, IGL@"""	B-ALL																																		Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0			1											48.0	53.0	51.0					1																	147084918		2203	4300	6503	145551542	SO:0001583	missense	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.290G>C	1.37:g.147084918G>C	ENSP00000234739:p.Gly97Ala		145551542	Q5T489	Missense_Mutation	SNP	NULL	p.G97A	ENST00000234739.3	37	c.290	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006463	0.74932	.	.	ENSG00000116128	ENST00000234739	T	0.52295	0.67	5.4	5.4	0.78164	.	0.128971	0.53938	D	0.000060	T	0.14743	0.0356	N	0.11427	0.14	0.38267	D	0.942048	P	0.42692	0.787	B	0.38880	0.284	T	0.11792	-1.0573	10	0.05833	T	0.94	-7.9943	19.3659	0.94461	0.0:0.0:1.0:0.0	.	97	O00512	BCL9_HUMAN	A	97	ENSP00000234739:G97A	ENSP00000234739:G97A	G	+	2	0	BCL9	145551542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.113000	0.50376	2.797000	0.96272	0.655000	0.94253	GGG	-	NULL		0.527	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	protein_coding	OTTHUMT00000039468.1	G	NM_004326		145551542	+1	no_errors	NM_004326	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
ZNF777	27153	genome.wustl.edu	37	7	149152720	149152720	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr7:149152720G>C	ENST00000247930.4	-	2	717	c.394C>G	c.(394-396)Cct>Gct	p.P132A		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGAGCTTCAGGGGAGTGAACG	0.612																																																0			7											94.0	107.0	103.0					7																	149152720		1856	4097	5953	148783653	SO:0001583	missense	27153			AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.394C>G	7.37:g.149152720G>C	ENSP00000247930:p.Pro132Ala		148783653	Q8N2R2|Q8N659	Missense_Mutation	SNP	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.P132A	ENST00000247930.4	37	c.394	CCDS43675.1	7	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187826	0.38609	.	.	ENSG00000196453	ENST00000247930	T	0.06528	3.29	4.94	4.06	0.47325	.	0.000000	0.44285	D	0.000468	T	0.11110	0.0271	L	0.27053	0.805	0.31898	N	0.616328	D	0.59767	0.986	P	0.62491	0.903	T	0.03695	-1.1012	10	0.62326	D	0.03	-9.7514	8.9251	0.35634	0.1027:0.0:0.8973:0.0	.	132	Q9ULD5-2	.	A	132	ENSP00000247930:P132A	ENSP00000247930:P132A	P	-	1	0	ZNF777	148783653	1.000000	0.71417	0.841000	0.33234	0.406000	0.30931	4.223000	0.58587	1.079000	0.41038	0.462000	0.41574	CCT	-	NULL		0.612	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF777	protein_coding	OTTHUMT00000352708.1	G	NM_015694		148783653	-1	no_errors	NM_015694	genbank	human	validated	54_36p	missense	SNP	0.137	C
HCFC1	3054	genome.wustl.edu	37	X	153222916	153222916	+	Silent	SNP	G	G	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chrX:153222916G>A	ENST00000310441.7	-	13	3168	c.2202C>T	c.(2200-2202)acC>acT	p.T734T	HCFC1_ENST00000354233.3_Silent_p.T665T|HCFC1_ENST00000369984.4_Silent_p.T734T|HCFC1_ENST00000461098.1_5'Flank	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	734					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TAGTGATGATGGTGGTGGGCT	0.642																																																0			X											95.0	98.0	97.0					X																	153222916		2148	4218	6366	152876110	SO:0001819	synonymous_variant	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2202C>T	X.37:g.153222916G>A			152876110	Q6P4G5	Silent	SNP	superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMPfam_Kelch_2,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3	p.T734	ENST00000310441.7	37	c.2202	CCDS44020.1	X																																																																																			-	NULL		0.642	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	protein_coding	OTTHUMT00000061099.4	G	NM_005334		152876110	-1	no_errors	NM_005334	genbank	human	reviewed	54_36p	silent	SNP	0.997	A
LENEP	55891	genome.wustl.edu	37	1	154966085	154966085	+	Start_Codon_SNP	SNP	T	T	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr1:154966085T>A	ENST00000392487.1	+	1	22	c.2T>A	c.(1-3)aTg>aAg	p.M1K				Q9Y5L5	LENEP_HUMAN	lens epithelial protein	1					multicellular organismal development (GO:0007275)		DNA binding (GO:0003677)			lung(2)	2	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTTGCCCACATGCAGCCCCGG	0.597																																																0			1											52.0	54.0	53.0					1																	154966085		2203	4300	6503	153232709	SO:0001582	initiator_codon_variant	55891			AF268478	CCDS1080.1	1q22.2	2008-02-05			ENSG00000163352	ENSG00000163352			14429	protein-coding gene	gene with protein product		607377				10655141, 11376938	Standard	NM_018655		Approved	LEP503	uc001fgi.3	Q9Y5L5	OTTHUMG00000037417	ENST00000392487.1:c.2T>A	1.37:g.154966085T>A	ENSP00000376278:p.Met1Lys		153232709	B5BUM1|Q5T1A4	Missense_Mutation	SNP	NULL	p.M1K	ENST00000392487.1	37	c.2	CCDS1080.1	1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.852698	0.51270	.	.	ENSG00000163352	ENST00000392487	.	.	.	5.32	4.19	0.49359	.	0.318671	0.22895	N	0.054327	T	0.55162	0.1903	.	.	.	0.58432	D	0.99999	D	0.54964	0.969	P	0.55824	0.785	T	0.61997	-0.6947	8	0.87932	D	0	-18.1733	6.5466	0.22410	0.0:0.1819:0.0:0.8181	.	1	Q9Y5L5	LENEP_HUMAN	K	1	.	ENSP00000357412:M1K	M	+	2	0	LENEP	153232709	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	1.421000	0.34815	1.047000	0.40274	0.460000	0.39030	ATG	-	NULL		0.597	LENEP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LENEP	protein_coding	OTTHUMT00000385609.2	T	NM_018655	Missense_Mutation	153232709	+1	no_errors	NM_018655	genbank	human	reviewed	54_36p	missense	SNP	0.979	A
FBXW7	55294	genome.wustl.edu	37	4	153273850	153273850	+	Intron	SNP	G	G	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr4:153273850G>T	ENST00000281708.4	-	3	1731				FBXW7_ENST00000603548.1_Intron|FBXW7_ENST00000603841.1_Intron|FBXW7_ENST00000296555.5_Intron|FBXW7_ENST00000263981.5_Missense_Mutation_p.S11R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase						cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GGCAAATGCAGCTCAGTATCA	0.458			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																		Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	0			4											73.0	70.0	71.0					4																	153273850		2203	4300	6503	153493300	SO:0001627	intron_variant	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.502-2574C>A	4.37:g.153273850G>T			153493300	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.S11R	ENST00000281708.4	37	c.33	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772590	0.31411	.	.	ENSG00000109670	ENST00000263981	T	0.57273	0.41	6.04	6.04	0.98038	.	.	.	.	.	T	0.39572	0.1083	N	0.08118	0	0.80722	D	1	B	0.20368	0.044	B	0.24541	0.054	T	0.30621	-0.9972	9	0.87932	D	0	.	19.3663	0.94464	0.0:0.0:1.0:0.0	.	11	Q969H0-2	.	R	11	ENSP00000263981:S11R	ENSP00000263981:S11R	S	-	3	2	FBXW7	153493300	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.937000	0.87672	2.873000	0.98535	0.563000	0.77884	AGC	-	NULL		0.458	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	protein_coding	OTTHUMT00000469956.1	G			153493300	-1	no_errors	NM_018315	genbank	human	validated	54_36p	missense	SNP	1.000	T
LY75	4065	genome.wustl.edu	37	2	160708840	160708840	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr2:160708840G>C	ENST00000263636.4	-	21	2782	c.2755C>G	c.(2755-2757)Cca>Gca	p.P919A	LY75_ENST00000554112.1_Missense_Mutation_p.P919A|LY75_ENST00000553424.1_Missense_Mutation_p.P919A|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.P919A|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.P919A	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	919	C-type lectin 5. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CAGTCTGTTGGTTTACCTAAG	0.333																																																0			2											78.0	80.0	80.0					2																	160708840		2203	4300	6503	160417086	SO:0001583	missense	4065			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.2755C>G	2.37:g.160708840G>C	ENSP00000263636:p.Pro919Ala		160417086	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	superfamily_Ricin B-like lectins,HMMSmart_SM00458,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1,superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1	p.P919A	ENST00000263636.4	37	c.2755	CCDS2211.1	2	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116823	0.37339	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.07021	3.23;3.23;3.23;3.23;3.23	5.12	4.18	0.49190	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.300312	0.18109	U	0.151439	T	0.10294	0.0252	M	0.65975	2.015	0.26185	N	0.979678	P;P;P	0.46142	0.787;0.495;0.873	B;B;B	0.39258	0.295;0.115;0.291	T	0.17653	-1.0362	10	0.34782	T	0.22	-2.8865	10.3773	0.44090	0.0:0.0:0.8045:0.1955	.	919;919;919	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	A	919	ENSP00000451511:P919A;ENSP00000451446:P919A;ENSP00000263636:P919A;ENSP00000423463:P919A;ENSP00000421035:P919A	ENSP00000423463:P919A	P	-	1	0	LY75;LY75-CD302	160417086	0.994000	0.37717	1.000000	0.80357	0.801000	0.45260	2.605000	0.46283	2.546000	0.85860	0.585000	0.79938	CCA	-	HMMSmart_SM00034,superfamily_C-type lectin-like		0.333	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	protein_coding	OTTHUMT00000255035.1	G			160417086	-1	no_errors	NM_002349	genbank	human	validated	54_36p	missense	SNP	0.671	C
TRIM75P	391714	genome.wustl.edu	37	4	165981626	165981626	+	IGR	SNP	A	A	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr4:165981626A>C								TRIM60 (18730 upstream) : RP11-219C20.3 (10133 downstream)																							TGACACTTTTACTGGGCCTCT	0.448																																																0			4											64.0	60.0	61.0					4																	165981626		1841	4089	5930	166201076	SO:0001628	intergenic_variant	391714																															4.37:g.165981626A>C			166201076		Missense_Mutation	SNP	superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY	p.T443P		37	c.1327		4																																																																																			-	HMMPfam_SPRY,HMMSmart_SPRY	0	0.448					TRIM75			A			166201076	+1	no_errors	NM_001105575	genbank	human	inferred	54_36p	missense	SNP	0.762	C
RANBP17	64901	genome.wustl.edu	37	5	170346477	170346477	+	Nonsense_Mutation	SNP	T	T	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr5:170346477T>G	ENST00000523189.1	+	11	1298	c.1134T>G	c.(1132-1134)taT>taG	p.Y378*		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	378					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTGTTCATTATTTATTAACTC	0.348			T	TRD@	ALL																																		Dom	yes		5	5q34	64901	RAN binding protein 17		L	0			5											98.0	92.0	94.0					5																	170346477		2203	4300	6503	170279082	SO:0001587	stop_gained	64901			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1134T>G	5.37:g.170346477T>G	ENSP00000427975:p.Tyr378*		170279082	Q8IU74	Nonsense_Mutation	SNP	superfamily_ARM repeat,HMMPfam_IBN_N	p.Y378*	ENST00000523189.1	37	c.1134	CCDS34287.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	29.8|29.8	5.033078|5.033078	0.93575|0.93575	.|.	.|.	ENSG00000204764|ENSG00000204764	ENST00000522734|ENST00000523189;ENST00000545246	.|.	.|.	.|.	5.4|5.4	-1.63|-1.63	0.08345|0.08345	.|.	.|0.000000	.|0.51477	.|D	.|0.000099	T|.	0.22126|.	0.0533|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.43814|.	-0.9368|.	3|.	.|0.02654	.|T	.|1	-11.439|-11.439	11.2518|11.2518	0.49031|0.49031	0.0:0.5214:0.0:0.4786|0.0:0.5214:0.0:0.4786	.|.	.|.	.|.	.|.	V|X	112|378;274	.|.	.|ENSP00000373770:Y378X	F|Y	+|+	1|3	0|2	RANBP17|RANBP17	170279082|170279082	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.989000|0.989000	0.77384|0.77384	1.519000|1.519000	0.35888|0.35888	-0.539000|-0.539000	0.06273|0.06273	0.397000|0.397000	0.26171|0.26171	TTT|TAT	-	superfamily_ARM repeat		0.348	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RANBP17	protein_coding	OTTHUMT00000372036.1	T	NM_022897		170279082	+1	no_errors	NM_022897	genbank	human	provisional	54_36p	nonsense	SNP	0.996	G
PLEKHA3	65977	genome.wustl.edu	37	2	179368485	179368485	+	Splice_Site	SNP	A	A	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr2:179368485A>G	ENST00000234453.5	+	8	1177		c.e8-1			NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			ATGTCTTCATAGGACCTGTTC	0.358																																																0			2											84.0	84.0	84.0					2																	179368485		2203	4300	6503	179076731	SO:0001630	splice_region_variant	65977			AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.776-1A>G	2.37:g.179368485A>G			179076731	Q4ZG69|Q86TQ1|Q9NXT3	Splice_Site	SNP	-	e8-2	ENST00000234453.5	37	c.776-2	CCDS33336.1	2	.	.	.	.	.	.	.	.	.	.	A	13.67	2.305100	0.40795	.	.	ENSG00000116095	ENST00000234453	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1819	0.81915	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLEKHA3	179076731	1.000000	0.71417	0.972000	0.41901	0.620000	0.37586	6.215000	0.72206	2.279000	0.76181	0.533000	0.62120	.	-	-		0.358	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA3	protein_coding	OTTHUMT00000335241.2	A	NM_019091	Intron	179076731	+1	no_errors	NM_019091	genbank	human	validated	54_36p	splice_site	SNP	0.980	G
FAM129A	116496	genome.wustl.edu	37	1	184764911	184764911	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr1:184764911G>T	ENST00000367511.3	-	14	2180	c.1987C>A	c.(1987-1989)Ccc>Acc	p.P663T	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	663					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TTCACCACGGGGTCATCCACT	0.577																																																0			1											70.0	63.0	65.0					1																	184764911		2203	4300	6503	183031534	SO:0001583	missense	116496			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1987C>A	1.37:g.184764911G>T	ENSP00000356481:p.Pro663Thr		183031534	Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	NULL	p.P663T	ENST00000367511.3	37	c.1987	CCDS1364.1	1	.	.	.	.	.	.	.	.	.	.	G	9.727	1.161203	0.21538	.	.	ENSG00000135842	ENST00000367511	T	0.10288	2.89	5.11	1.53	0.23141	.	1.778200	0.02578	N	0.098531	T	0.10294	0.0252	L	0.32530	0.975	0.09310	N	1	B	0.22414	0.069	B	0.21360	0.034	T	0.31752	-0.9932	10	0.44086	T	0.13	-2.3423	5.564	0.17160	0.2106:0.15:0.6395:0.0	.	663	Q9BZQ8	NIBAN_HUMAN	T	663	ENSP00000356481:P663T	ENSP00000356481:P663T	P	-	1	0	FAM129A	183031534	0.005000	0.15991	0.012000	0.15200	0.008000	0.06430	1.124000	0.31320	0.016000	0.14998	0.491000	0.48974	CCC	-	NULL		0.577	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129A	protein_coding	OTTHUMT00000085786.1	G			183031534	-1	no_errors	NM_052966	genbank	human	validated	54_36p	missense	SNP	0.021	T
TROVE2	6738	genome.wustl.edu	37	1	193038386	193038386	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr1:193038386G>A	ENST00000367446.3	+	2	412	c.202G>A	c.(202-204)Ggc>Agc	p.G68S	TROVE2_ENST00000400968.2_Missense_Mutation_p.G68S|TROVE2_ENST00000367445.3_Missense_Mutation_p.G68S|TROVE2_ENST00000367443.1_Missense_Mutation_p.G68S|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000367441.1_Missense_Mutation_p.G68S|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367444.3_Missense_Mutation_p.G68S	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	68	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						GATTGAAGATGGCAGAGGATG	0.398																																																0			1											63.0	58.0	60.0					1																	193038386		1893	4125	6018	191305009	SO:0001583	missense	6738			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.202G>A	1.37:g.193038386G>A	ENSP00000356416:p.Gly68Ser		191305009	B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	HMMPfam_TROVE	p.G68S	ENST00000367446.3	37	c.202	CCDS1379.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.097262	0.94197	.	.	ENSG00000116747	ENST00000400968;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441;ENST00000512587	T;T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49;2.49	5.6	5.6	0.85130	TROVE (2);	0.051977	0.85682	D	0.000000	T	0.39784	0.1091	M	0.84846	2.72	0.80722	D	1	D;D;D;D	0.76494	0.998;0.998;0.999;0.999	D;D;D;D	0.80764	0.983;0.983;0.99;0.994	T	0.42899	-0.9424	10	0.06494	T	0.89	-0.2875	19.6091	0.95594	0.0:0.0:1.0:0.0	.	68;68;68;68	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	S	68;68;68;68;68;68;9	ENSP00000383752:G68S;ENSP00000356416:G68S;ENSP00000356413:G68S;ENSP00000356415:G68S;ENSP00000356414:G68S;ENSP00000356411:G68S;ENSP00000424612:G9S	ENSP00000356411:G68S	G	+	1	0	TROVE2	191305009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.496000	0.81526	2.648000	0.89879	0.557000	0.71058	GGC	-	HMMPfam_TROVE		0.398	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROVE2	protein_coding	OTTHUMT00000086688.1	G	NM_004600		191305009	+1	no_errors	NM_004600	genbank	human	validated	54_36p	missense	SNP	1.000	A
SERTAD4	56256	genome.wustl.edu	37	1	210414946	210414946	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr1:210414946C>A	ENST00000367012.3	+	4	565	c.335C>A	c.(334-336)tCc>tAc	p.S112Y	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	112	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.					nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		CTTTATATGTCCTTAGAAAAG	0.338																																																0			1											76.0	80.0	79.0					1																	210414946		2203	4300	6503	208481569	SO:0001583	missense	56256			BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.335C>A	1.37:g.210414946C>A	ENSP00000355979:p.Ser112Tyr		208481569	B2RD32	Missense_Mutation	SNP	HMMPfam_SERTA	p.S112Y	ENST00000367012.3	37	c.335	CCDS1494.1	1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266690	0.59540	.	.	ENSG00000082497	ENST00000367012	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.78742	0.4331	L	0.61218	1.895	0.50632	D	0.999883	D	0.76494	0.999	D	0.87578	0.998	T	0.79683	-0.1701	9	0.87932	D	0	-28.4208	19.756	0.96291	0.0:1.0:0.0:0.0	.	112	Q9NUC0	SRTD4_HUMAN	Y	112	.	ENSP00000355979:S112Y	S	+	2	0	SERTAD4	208481569	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.251000	0.72441	2.665000	0.90641	0.655000	0.94253	TCC	-	HMMPfam_SERTA		0.338	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERTAD4	protein_coding	OTTHUMT00000088577.1	C	NM_019605		208481569	+1	no_errors	NM_019605	genbank	human	validated	54_36p	missense	SNP	1.000	A
FN1	2335	genome.wustl.edu	37	2	216273075	216273075	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr2:216273075G>C	ENST00000359671.1	-	16	2639	c.2374C>G	c.(2374-2376)Cag>Gag	p.Q792E	FN1_ENST00000357867.4_Missense_Mutation_p.Q792E|FN1_ENST00000356005.4_Missense_Mutation_p.Q792E|FN1_ENST00000354785.4_Missense_Mutation_p.Q792E|FN1_ENST00000432072.2_Missense_Mutation_p.Q792E|FN1_ENST00000346544.3_Missense_Mutation_p.Q792E|FN1_ENST00000345488.5_Missense_Mutation_p.Q792E|FN1_ENST00000421182.1_Missense_Mutation_p.Q792E|FN1_ENST00000446046.1_Missense_Mutation_p.Q792E|FN1_ENST00000443816.1_Missense_Mutation_p.Q792E|FN1_ENST00000357009.2_Missense_Mutation_p.Q792E|FN1_ENST00000323926.6_Missense_Mutation_p.Q792E|FN1_ENST00000336916.4_Missense_Mutation_p.Q792E			P02751	FINC_HUMAN	fibronectin 1	792	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TCAGATATCTGATAGACATTT	0.393																																																0			2											105.0	102.0	103.0					2																	216273075		2203	4300	6503	215981320	SO:0001583	missense	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2374C>G	2.37:g.216273075G>C	ENSP00000352696:p.Gln792Glu		215981320	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	superfamily_Fibronectin type I module,HMMPfam_fn1,PatternScan_FN1_1,HMMSmart_SM00058,PatternScan_EGF_1,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_ALDEHYDE_DEHYDR_GLU	p.Q792E	ENST00000359671.1	37	c.2374		2	.	.	.	.	.	.	.	.	.	.	G	0.261	-0.999556	0.02128	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45	5.93	3.09	0.35607	.	0.193025	0.36200	N	0.002729	T	0.26738	0.0654	N	0.02247	-0.625	0.43408	D	0.995543	B;B;B;B;B;B;B;B;B;B	0.13145	0.0;0.003;0.003;0.0;0.004;0.003;0.001;0.0;0.0;0.007	B;B;B;B;B;B;B;B;B;B	0.14578	0.004;0.011;0.006;0.002;0.005;0.004;0.011;0.002;0.002;0.011	T	0.39583	-0.9607	10	0.02654	T	1	.	19.5169	0.95169	0.0:0.311:0.689:0.0	.	792;792;792;792;792;792;792;792;792;792	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	E	792	ENSP00000394423:Q792E;ENSP00000323534:Q792E;ENSP00000338200:Q792E;ENSP00000350534:Q792E;ENSP00000346839:Q792E;ENSP00000352696:Q792E;ENSP00000265312:Q792E;ENSP00000273049:Q792E;ENSP00000349509:Q792E;ENSP00000410422:Q792E;ENSP00000415018:Q792E;ENSP00000399538:Q792E;ENSP00000348285:Q792E	ENSP00000265313:Q792E	Q	-	1	0	FN1	215981320	1.000000	0.71417	0.890000	0.34922	0.419000	0.31324	3.648000	0.54410	0.099000	0.17552	-0.795000	0.03280	CAG	-	HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III		0.393	FN1-204	KNOWN	basic	protein_coding	FN1	protein_coding		G	NM_212476		215981320	-1	no_errors	NM_212482	genbank	human	reviewed	54_36p	missense	SNP	0.997	C
