#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
NKRF	55922	genome.wustl.edu	37	X	118723959	118723959	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chrX:118723959G>A	ENST00000371527.1	-	2	2081	c.1429C>T	c.(1429-1431)Cgc>Tgc	p.R477C	NKRF_ENST00000304449.5_Missense_Mutation_p.R477C|NKRF_ENST00000542113.1_Missense_Mutation_p.R492C|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	477					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						CATTTCCAGCGGAGGCCTGTC	0.438																																						dbGAP											0			X											99.0	98.0	98.0					X																	118723959		2203	4300	6503	118607987	SO:0001583	missense	0			AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1429C>T	X.37:g.118723959G>A	ENSP00000360582:p.Arg477Cys	Somatic	125	0.79	1		9	0.00	0	WXS	Illumina HiSeq	Phase_IV	118607987	62	14.86	11	G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	HMMPfam_G-patch,HMMSmart_SM00443,HMMPfam_dsrm,HMMSmart_SM00358,HMMPfam_R3H,HMMSmart_SM00393,superfamily_dsRNA-binding domain-like,superfamily_R3H domain	p.R477C	ENST00000371527.1	37	c.1429	CCDS35375.1	X	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438062	0.43326	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.77620	-1.11;-1.11;-1.11	5.6	4.71	0.59529	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.152294	0.56097	D	0.000033	T	0.77150	0.4088	L	0.50333	1.59	0.58432	D	0.999992	D	0.64830	0.994	P	0.49502	0.613	T	0.79945	-0.1589	10	0.72032	D	0.01	-9.8017	11.9766	0.53096	0.0:0.0:0.6931:0.3069	.	477	O15226	NKRF_HUMAN	C	477;477;492	ENSP00000360582:R477C;ENSP00000304803:R477C;ENSP00000442308:R492C	ENSP00000304803:R477C	R	-	1	0	NKRF	118607987	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.091000	0.57700	2.343000	0.79666	0.600000	0.82982	CGC	-	HMMSmart_SM00358,superfamily_dsRNA-binding domain-like		0.438	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKRF	protein_coding	OTTHUMT00000058044.1	G	NM_017544		118607987	-1	no_errors	NM_017544.2	genbank	human	validated	54_36p	missense	SNP	1.000	A
OR13H1	347468	genome.wustl.edu	37	X	130678091	130678091	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chrX:130678091T>C	ENST00000338616.3	+	1	142	c.44T>C	c.(43-45)aTt>aCt	p.I15T		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TTTCTCCTTATTGGCATTTCT	0.393																																						dbGAP											0			X											219.0	173.0	188.0					X																	130678091		2203	4300	6503	130505772	SO:0001583	missense	0				CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"""GPCR / Class A : Olfactory receptors"""	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.44T>C	X.37:g.130678091T>C	ENSP00000340748:p.Ile15Thr	Somatic	427	3.16	14		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	130505772	38	82.95	219	B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.I15T	ENST00000338616.3	37	c.44	CCDS35396.1	X	.	.	.	.	.	.	.	.	.	.	T	12.61	1.989316	0.35131	.	.	ENSG00000171054	ENST00000338616	T	0.00585	6.39	4.63	4.63	0.57726	.	0.000000	0.40222	U	0.001158	T	0.00666	0.0022	N	0.11000	0.08	0.24804	N	0.99268	D	0.54772	0.968	P	0.50970	0.655	T	0.61178	-0.7115	10	0.87932	D	0	.	10.9448	0.47294	0.0:0.0:0.0:1.0	.	15	Q8NG92	O13H1_HUMAN	T	15	ENSP00000340748:I15T	ENSP00000340748:I15T	I	+	2	0	OR13H1	130505772	0.019000	0.18553	0.997000	0.53966	0.363000	0.29612	0.815000	0.27253	1.707000	0.51288	0.417000	0.27973	ATT	-	superfamily_SSF81321		0.393	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13H1	protein_coding	OTTHUMT00000058297.1	T			130505772	+1	no_errors	NM_001004486.1	genbank	human	provisional	54_36p	missense	SNP	0.890	C
STK26	51765	genome.wustl.edu	37	X	131157387	131157387	+	5'UTR	SNP	G	G	C			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chrX:131157387G>C	ENST00000354719.6	+	0	58				MST4_ENST00000481105.1_5'UTR|MST4_ENST00000496850.1_5'Flank|MST4_ENST00000394334.2_5'UTR|MST4_ENST00000394335.2_5'UTR																endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TTCAGGAAGAGGAGCAGCAGC	0.682																																						dbGAP											0			X											10.0	12.0	11.0					X																	131157387		872	1982	2854	130985068	SO:0001623	5_prime_UTR_variant	0																														ENST00000354719.6:c.-159G>C	X.37:g.131157387G>C		Somatic	55	1.79	1		1	93.75	15	WXS	Illumina HiSeq	Phase_IV	130985068	2	90.00	18		Missense_Mutation	SNP	HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.G28R	ENST00000354719.6	37	c.82		X																																																																																			-	NULL		0.682	MST4-002	NOVEL	basic|exp_conf	protein_coding	uc004ewl.1	protein_coding	OTTHUMT00000058308.2	G			130985068	+1	no_start_codon	ENST00000370887	ensembl	human	known	54_36p	missense	SNP	0.001	C
GRIK3	2899	genome.wustl.edu	37	1	37307519	37307519	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr1:37307519G>A	ENST00000373091.3	-	10	1364	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W	GRIK3_ENST00000373093.4_Missense_Mutation_p.R450W	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	450					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.R450W(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TCTGATTTCCGAAACATGACG	0.567																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|lung(1)	1											142.0	131.0	135.0					1																	37307519		2203	4300	6503	37080106	SO:0001583	missense	0			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1348C>T	1.37:g.37307519G>A	ENSP00000362183:p.Arg450Trp	Somatic	470	1.04	5		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	37080106	109	30.19	48	A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	HMMPfam_Lig_chan,HMMSmart_PBPe,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53822,superfamily_SSF53850,superfamily_SSF55620	p.R450W	ENST00000373091.3	37	c.1348	CCDS416.1	1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061139	0.55432	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.11930	2.73;2.73	4.95	4.03	0.46877	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.063724	0.64402	D	0.000006	T	0.35856	0.0946	M	0.80183	2.485	0.40728	D	0.982729	D;D	0.89917	1.0;1.0	D;D	0.63597	0.916;0.916	T	0.35025	-0.9805	10	0.87932	D	0	.	12.6274	0.56638	0.0:0.0:0.5737:0.4262	.	450;450	A9Z1Z8;Q13003	.;GRIK3_HUMAN	W	450	ENSP00000362183:R450W;ENSP00000362185:R450W	ENSP00000362183:R450W	R	-	1	2	GRIK3	37080106	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	3.851000	0.55926	1.195000	0.43115	0.655000	0.94253	CGG	-	HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53850		0.567	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	protein_coding	OTTHUMT00000012053.1	G	NM_000831		37080106	-1	no_errors	NM_000831.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
SPRR4	163778	genome.wustl.edu	37	1	152944388	152944388	+	Missense_Mutation	SNP	C	C	T	rs201207143		TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr1:152944388C>T	ENST00000328051.2	+	2	71	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	8	Gln-rich.				keratinization (GO:0031424)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gcagcagcagcggcagcagca	0.552																																						dbGAP											0			1						C	TRP/ARG	0,4406		0,0,2203	74.0	76.0	76.0		22	4.6	0.7	1		76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SPRR4	NM_173080.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	8/80	152944388	1,13005	2203	4300	6503	151211012	SO:0001583	missense	0			AF335109	CCDS1031.1	1q21.3	2008-02-05	2006-11-29		ENSG00000184148	ENSG00000184148			23173	protein-coding gene	gene with protein product						11719550, 11279051	Standard	NM_173080		Approved		uc001fav.1	Q96PI1	OTTHUMG00000012450	ENST00000328051.2:c.22C>T	1.37:g.152944388C>T	ENSP00000332163:p.Arg8Trp	Somatic	1083	2.59	29		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	151211012	203	39.83	137	Q2M1Y7|Q5T522	Missense_Mutation	SNP	HMMPfam_Cornifin	p.R8W	ENST00000328051.2	37	c.22	CCDS1031.1	1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385550	0.25031	0.0	1.16E-4	ENSG00000184148	ENST00000328051	T	0.20200	2.09	4.64	4.64	0.57946	.	.	.	.	.	T	0.06142	0.0159	.	.	.	0.09310	N	0.999991	P	0.35050	0.482	B	0.11329	0.006	T	0.15435	-1.0437	8	0.59425	D	0.04	.	12.8501	0.57852	0.0:1.0:0.0:0.0	.	8	Q96PI1	SPRR4_HUMAN	W	8	ENSP00000332163:R8W	ENSP00000332163:R8W	R	+	1	2	SPRR4	151211012	0.008000	0.16893	0.651000	0.29564	0.485000	0.33311	0.622000	0.24433	2.395000	0.81488	0.460000	0.39030	CGG	-	HMMPfam_Cornifin		0.552	SPRR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRR4	protein_coding	OTTHUMT00000034663.1	C	NM_173080		151211012	+1	no_errors	NM_173080.1	genbank	human	provisional	54_36p	missense	SNP	0.928	T
ZNF518B	85460	genome.wustl.edu	37	4	10445534	10445534	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr4:10445534A>T	ENST00000326756.3	-	3	2857	c.2419T>A	c.(2419-2421)Tta>Ata	p.L807I		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	807					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GGTTTTATTAACTGTCTTTCA	0.458																																						dbGAP											0			4											93.0	89.0	90.0					4																	10445534		2203	4300	6503	10054632	SO:0001583	missense	0			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2419T>A	4.37:g.10445534A>T	ENSP00000317614:p.Leu807Ile	Somatic	517	1.32	7		6	57.14	8	WXS	Illumina HiSeq	Phase_IV	10054632	139	20.90	37	Q96LN8	Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667	p.L807I	ENST00000326756.3	37	c.2419	CCDS33960.1	4	.	.	.	.	.	.	.	.	.	.	A	15.56	2.868316	0.51588	.	.	ENSG00000178163	ENST00000326756	T	0.02258	4.37	6.02	-1.04	0.10068	.	0.280449	0.22033	N	0.065574	T	0.02304	0.0071	L	0.48642	1.525	0.09310	N	1	D	0.63880	0.993	B	0.44315	0.446	T	0.48525	-0.9028	10	0.34782	T	0.22	-4.7831	5.1051	0.14779	0.3178:0.3212:0.361:0.0	.	807	Q9C0D4	Z518B_HUMAN	I	807	ENSP00000317614:L807I	ENSP00000317614:L807I	L	-	1	2	ZNF518B	10054632	0.000000	0.05858	0.032000	0.17829	0.805000	0.45488	-0.260000	0.08708	-0.134000	0.11516	0.533000	0.62120	TTA	-	NULL		0.458	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF518B	protein_coding	OTTHUMT00000359040.1	A	NM_053042		10054632	-1	no_errors	NM_053042.2	genbank	human	validated	54_36p	missense	SNP	0.001	T
BBS12	166379	genome.wustl.edu	37	4	123664618	123664618	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr4:123664618A>G	ENST00000314218.3	+	2	1764	c.1571A>G	c.(1570-1572)tAt>tGt	p.Y524C	BBS12_ENST00000542236.1_Missense_Mutation_p.Y524C	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	524			Y -> C (in a patient with Bardet-Biedl syndrome homozygous for a mutation in BBS2; uncertain pathological role). {ECO:0000269|PubMed:20120035}.		cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						ACATGTGCCTATCGTTTGTAT	0.393									Bardet-Biedl syndrome																													dbGAP											0			4											139.0	138.0	139.0					4																	123664618		2203	4300	6503	123884068	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1571A>G	4.37:g.123664618A>G	ENSP00000319062:p.Tyr524Cys	Somatic	237	1.23	3		0	100.00	2	WXS	Illumina HiSeq	Phase_IV	123884068	152	27.10	58	D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL apical domain-like	p.Y524C	ENST00000314218.3	37	c.1571	CCDS3728.1	4	.	.	.	.	.	.	.	.	.	.	A	16.69	3.193831	0.58017	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.77620	-1.11;-1.11	5.71	-1.02	0.10135	.	0.412804	0.27126	N	0.020820	T	0.68988	0.3061	M	0.61703	1.905	0.30546	N	0.765983	B	0.26708	0.157	B	0.29785	0.107	T	0.60068	-0.7335	10	0.37606	T	0.19	-25.9999	6.2015	0.20579	0.4533:0.3544:0.1923:0.0	.	524	Q6ZW61	BBS12_HUMAN	C	524	ENSP00000319062:Y524C;ENSP00000438273:Y524C	ENSP00000319062:Y524C	Y	+	2	0	BBS12	123884068	0.975000	0.34042	0.070000	0.20053	0.932000	0.56968	1.527000	0.35975	-0.372000	0.07992	0.482000	0.46254	TAT	-	HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like		0.393	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS12	protein_coding	OTTHUMT00000256710.1	A	NM_152618		123884068	+1	no_errors	NM_152618.2	genbank	human	validated	54_36p	missense	SNP	0.790	G
HLA-DRB1	3123	genome.wustl.edu	37	6	32548544	32548544	+	Missense_Mutation	SNP	T	T	G	rs199873800	byFrequency	TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr6:32548544T>G	ENST00000360004.5	-	4	847	c.742A>C	c.(742-744)Atc>Ctc	p.I248L		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	248					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						CTGAAGTAGATGAACAGCCCG	0.547										Multiple Myeloma(14;0.17)																												dbGAP											0			6											86.0	100.0	95.0					6																	32548544		1511	2709	4220	32656522	SO:0001583	missense	0			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.742A>C	6.37:g.32548544T>G	ENSP00000353099:p.Ile248Leu	Somatic	245	14.93	43		717	0.14	1	WXS	Illumina HiSeq	Phase_IV	32656522	149	13.71	24	P01914|Q9MYF5	Missense_Mutation	SNP	HMMPfam_MHC_II_beta,PatternScan_IG_MHC,HMMPfam_C1-set,HMMSmart_SM00407,superfamily_MHC antigen-recognition domain,superfamily_Immunoglobulin	p.I248L	ENST00000360004.5	37	c.742	CCDS47409.1	6	.	.	.	.	.	.	.	.	.	.	.	16.04	3.009505	0.54361	.	.	ENSG00000196126	ENST00000360004	T	0.00638	6.04	3.98	-6.48	0.01896	.	0.413267	0.26923	N	0.021810	T	0.00552	0.0018	L	0.58510	1.815	0.19300	N	0.99997	B;B;D	0.59357	0.009;0.002;0.985	B;B;D	0.66716	0.021;0.005;0.946	T	0.51252	-0.8729	10	0.87932	D	0	.	1.2914	0.02061	0.2749:0.3631:0.1397:0.2223	.	248;248;248	P04229;Q29974;P01911	2B11_HUMAN;2B1G_HUMAN;2B1F_HUMAN	L	248	ENSP00000353099:I248L	ENSP00000353099:I248L	I	-	1	0	HLA-DRB1	32656522	0.003000	0.15002	0.067000	0.19924	0.641000	0.38312	-1.853000	0.01666	-0.703000	0.05049	0.372000	0.22366	ATC	-	NULL		0.547	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB1	protein_coding	OTTHUMT00000076393.3	T	NM_002124		32656522	-1	no_errors	NM_002124.2	genbank	human	reviewed	54_36p	missense	SNP	0.956	G
DLD	1738	genome.wustl.edu	37	7	107556026	107556026	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr7:107556026G>A	ENST00000205402.5	+	9	1041	c.760G>A	c.(760-762)Gat>Aat	p.D254N	DLD_ENST00000437604.2_Missense_Mutation_p.D206N|DLD_ENST00000537148.1_Missense_Mutation_p.D155N|DLD_ENST00000440410.1_Missense_Mutation_p.D231N	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	254					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	AGTTGGAATTGATATGGAGAT	0.363																																						dbGAP											0			7											114.0	114.0	114.0					7																	107556026		2203	4300	6503	107343262	SO:0001583	missense	0			AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"""E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"""	238331	"""dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"""	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.760G>A	7.37:g.107556026G>A	ENSP00000205402:p.Asp254Asn	Somatic	220	1.33	3		48	42.35	36	WXS	Illumina HiSeq	Phase_IV	107343262	118	37.17	71	B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	HMMPfam_Pyr_redox,HMMPfam_Pyr_redox_dim,PatternScan_PYRIDINE_REDOX_1,HMMPfam_Pyr_redox_2,superfamily_FAD/NAD-linked_reductase_dimer,superfamily_SSF51905	p.D254N	ENST00000205402.5	37	c.760	CCDS5749.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.882041	0.97062	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000537148;ENST00000440410;ENST00000437604;ENST00000539590	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.98	5.98	0.97165	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89670	0.6782	H	0.97940	4.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92571	0.6066	10	0.87932	D	0	-14.4955	20.4366	0.99092	0.0:0.0:1.0:0.0	.	231;206;254	E9PEX6;B4DT69;P09622	.;.;DLDH_HUMAN	N	254;254;155;231;206;204	ENSP00000205402:D254N;ENSP00000390667:D254N;ENSP00000442399:D155N;ENSP00000417016:D231N;ENSP00000387542:D206N	ENSP00000205402:D254N	D	+	1	0	DLD	107343262	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.837000	0.97791	0.591000	0.81541	GAT	-	HMMPfam_Pyr_redox,HMMPfam_Pyr_redox_2,superfamily_SSF51905		0.363	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLD	protein_coding	OTTHUMT00000337194.3	G	NM_000108		107343262	+1	no_errors	NM_000108.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ECM2	1842	genome.wustl.edu	37	9	95279998	95279998	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr9:95279998C>T	ENST00000344604.5	-	3	601	c.452G>A	c.(451-453)gGg>gAg	p.G151E	ECM2_ENST00000444490.2_Missense_Mutation_p.G151E|ECM2_ENST00000375540.1_Missense_Mutation_p.G151E|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	151	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GCAGCATTCCCCTTCAGGTAT	0.463																																						dbGAP											0			9											155.0	164.0	161.0					9																	95279998		2203	4300	6503	94319819	SO:0001583	missense	0			AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.452G>A	9.37:g.95279998C>T	ENSP00000344758:p.Gly151Glu	Somatic	525	2.58	14		2	50.00	2	WXS	Illumina HiSeq	Phase_IV	94319819	128	43.53	101	B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,HMMPfam_LRR_1,superfamily_SSF52058	p.G151E	ENST00000344604.5	37	c.452	CCDS6698.1	9	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996662	0.74818	.	.	ENSG00000106823	ENST00000444490;ENST00000344604;ENST00000375540;ENST00000395534	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.34	5.34	0.76211	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	D	0.89455	0.6720	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.99;1.0;1.0;1.0	D	0.90504	0.4476	10	0.87932	D	0	.	19.4243	0.94735	0.0:1.0:0.0:0.0	.	151;151;151;151	Q5T9F3;O94769;B4DK93;O94769-2	.;ECM2_HUMAN;.;.	E	151	ENSP00000393971:G151E;ENSP00000344758:G151E;ENSP00000364690:G151E;ENSP00000378905:G151E	ENSP00000344758:G151E	G	-	2	0	ECM2	94319819	1.000000	0.71417	1.000000	0.80357	0.358000	0.29455	4.914000	0.63348	2.671000	0.90904	0.563000	0.77884	GGG	-	HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1		0.463	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM2	protein_coding	OTTHUMT00000053091.1	C	NM_001393		94319819	-1	no_errors	NM_001393.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
CACNA1B	774	genome.wustl.edu	37	9	141016357	141016357	+	Missense_Mutation	SNP	G	G	A	rs199734998		TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr9:141016357G>A	ENST00000371372.1	+	47	7071	c.6926G>A	c.(6925-6927)cGc>cAc	p.R2309H	CACNA1B_ENST00000277549.5_Missense_Mutation_p.R1503H|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R2310H|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R2308H|CACNA1B_ENST00000277551.2_3'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R2307H	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2309					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTCTCCGCCGCGTGCCCAAC	0.647																																						dbGAP											0			9											43.0	48.0	46.0					9																	141016357		2127	4216	6343	140136178	SO:0001583	missense	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6926G>A	9.37:g.141016357G>A	ENSP00000360423:p.Arg2309His	Somatic	77	4.82	4		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	140136178	31	43.64	24	B1AQK5	Missense_Mutation	SNP	HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels	p.R2309H	ENST00000371372.1	37	c.6926	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.632242	0.96682	.	.	ENSG00000148408	ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.97378	-4.12;-4.36;-4.12;-4.11;-4.11	5.12	5.12	0.69794	.	0.219149	0.40469	N	0.001099	D	0.98216	0.9410	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.951	D	0.99297	1.0900	10	0.72032	D	0.01	.	18.5462	0.91047	0.0:0.0:1.0:0.0	.	2308;2307	B1AQK7;B1AQK6	.;.	H	2309;1503;2307;2308;2310	ENSP00000360423:R2309H;ENSP00000277549:R1503H;ENSP00000360414:R2307H;ENSP00000360408:R2308H;ENSP00000360406:R2310H	ENSP00000277549:R1503H	R	+	2	0	CACNA1B	140136178	0.997000	0.39634	0.979000	0.43373	0.950000	0.60333	4.604000	0.61112	2.385000	0.81259	0.561000	0.74099	CGC	-	NULL		0.647	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	protein_coding	OTTHUMT00000055380.1	G	NM_000718		140136178	+1	no_errors	NM_000718.2	genbank	human	validated	54_36p	missense	SNP	0.988	A
FAT3	120114	genome.wustl.edu	37	11	92532290	92532290	+	Silent	SNP	G	G	T			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr11:92532290G>T	ENST00000298047.6	+	9	6128	c.6111G>T	c.(6109-6111)acG>acT	p.T2037T	FAT3_ENST00000525166.1_Silent_p.T1887T|FAT3_ENST00000409404.2_Silent_p.T2037T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2037	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCATTCAGACGACTGGAGTCC	0.473										TCGA Ovarian(4;0.039)																												dbGAP											0			11											55.0	56.0	56.0					11																	92532290		1876	4113	5989	92171938	SO:0001819	synonymous_variant	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6111G>T	11.37:g.92532290G>T		Somatic	333	0.30	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	92171938	67	40.00	46	B5MDB0|Q96AU6	Silent	SNP	PatternScan_ASX_HYDROXYL,HMMSmart_SM00282,HMMSmart_SM00179,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Cadherin-like,PatternScan_EGF_CA,superfamily_EGF/Laminin	p.T2037	ENST00000298047.6	37	c.6111		11																																																																																			-	HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like		0.473	FAT3-201	KNOWN	basic	protein_coding	FAT3	protein_coding		G	NM_001008781		92171938	+1	no_errors	NM_001008781.2	genbank	human	validated	54_36p	silent	SNP	0.992	T
GNPTAB	79158	genome.wustl.edu	37	12	102179965	102179965	+	Silent	SNP	G	G	A			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr12:102179965G>A	ENST00000299314.7	-	5	658	c.396C>T	c.(394-396)caC>caT	p.H132H	GNPTAB_ENST00000549940.1_Silent_p.H132H	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	132					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CCTTAATGCAGTGTGTTAGCA	0.438																																						dbGAP											0			12											91.0	88.0	89.0					12																	102179965		2203	4300	6503	100704096	SO:0001819	synonymous_variant	0			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.396C>T	12.37:g.102179965G>A		Somatic	791	1.12	9		56	40.43	38	WXS	Illumina HiSeq	Phase_IV	100704096	194	39.88	130	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Silent	SNP	HMMPfam_Notch,HMMSmart_SM00004,superfamily_Notch domain,HMMPfam_DMAP_binding,PatternScan_EF_HAND_1	p.H132	ENST00000299314.7	37	c.396	CCDS9088.1	12																																																																																			-	NULL		0.438	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	protein_coding	OTTHUMT00000409182.1	G			100704096	-1	no_errors	NM_024312.3	genbank	human	validated	54_36p	silent	SNP	1.000	A
OR11H12	440153	genome.wustl.edu	37	14	19377885	19377885	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr14:19377885G>A	ENST00000550708.1	+	1	364	c.292G>A	c.(292-294)Gtc>Atc	p.V98I		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAAGATGTTGGTCAACTTCCT	0.403																																						dbGAP											0			14											5.0	5.0	5.0					14																	19377885		1140	2684	3824	18447885	SO:0001583	missense	0				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.292G>A	14.37:g.19377885G>A	ENSP00000449002:p.Val98Ile	Somatic	154	0.65	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	18447885	64	30.53	29		Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.V98I	ENST00000550708.1	37	c.292	CCDS32017.1	14	.	.	.	.	.	.	.	.	.	.	g	4.149	0.026111	0.08054	.	.	ENSG00000257115	ENST00000550708	T	0.00397	7.57	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.641649	0.12586	N	0.456032	T	0.00241	0.0007	L	0.33753	1.03	0.21325	N	0.99972	B	0.12630	0.006	B	0.12156	0.007	T	0.04427	-1.0952	9	0.45353	T	0.12	.	7.1009	0.25336	1.0E-4:0.0:0.9999:0.0	.	98	B2RN74	O11HC_HUMAN	I	98	ENSP00000449002:V98I	ENSP00000449002:V98I	V	+	1	0	CR383656.1	18447885	0.000000	0.05858	0.939000	0.37840	0.255000	0.26057	-2.575000	0.00910	0.619000	0.30197	0.064000	0.15345	GTC	-	HMMPfam_7tm_1,superfamily_SSF81321		0.403	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H12	protein_coding	OTTHUMT00000408402.1	G	NM_001013354		18447885	+1	no_errors	NM_001013354.1	genbank	human	provisional	54_36p	missense	SNP	0.016	A
SLC38A6	145389	genome.wustl.edu	37	14	61517241	61517241	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr14:61517241T>A	ENST00000267488.4	+	13	1053	c.937T>A	c.(937-939)Tca>Aca	p.S313T	SLC38A6_ENST00000456840.2_Missense_Mutation_p.S290T|SLC38A6_ENST00000354886.2_Missense_Mutation_p.S313T	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	313					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		CAAAGTGGAGTCAGAATTACT	0.308																																						dbGAP											0			14											104.0	98.0	100.0					14																	61517241		2202	4297	6499	60586994	SO:0001583	missense	0			AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.937T>A	14.37:g.61517241T>A	ENSP00000267488:p.Ser313Thr	Somatic	665	2.19	15		4	66.67	8	WXS	Illumina HiSeq	Phase_IV	60586994	155	35.39	86	C9JWA6|Q86SY5	Missense_Mutation	SNP	HMMPfam_Aa_trans	p.S313T	ENST00000267488.4	37	c.937	CCDS9751.1	14	.	.	.	.	.	.	.	.	.	.	T	16.02	3.003349	0.54254	.	.	ENSG00000139974	ENST00000354886;ENST00000267488;ENST00000451406;ENST00000456840;ENST00000529212	T;T;T;T;T	0.02216	4.39;4.39;4.39;4.39;4.39	5.92	4.75	0.60458	.	0.245082	0.43110	D	0.000601	T	0.05960	0.0155	M	0.76328	2.33	0.51482	D	0.999925	P;P;P	0.39717	0.684;0.633;0.537	B;B;B	0.43508	0.422;0.297;0.231	T	0.12041	-1.0563	10	0.51188	T	0.08	-1.897	12.1627	0.54113	0.0:0.0673:0.0:0.9327	.	290;313;313	E7ETF2;Q8IZM9-2;Q8IZM9	.;.;S38A6_HUMAN	T	313;313;308;290;86	ENSP00000346959:S313T;ENSP00000267488:S313T;ENSP00000395851:S308T;ENSP00000413863:S290T;ENSP00000437190:S86T	ENSP00000267488:S313T	S	+	1	0	SLC38A6	60586994	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.248000	0.51430	1.022000	0.39626	0.528000	0.53228	TCA	-	HMMPfam_Aa_trans		0.308	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A6	protein_coding	OTTHUMT00000276957.1	T			60586994	+1	no_errors	NM_153811.1	genbank	human	provisional	54_36p	missense	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr17:7578403C>T	ENST00000269305.4	-	5	716	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000420246.2_Missense_Mutation_p.C176Y|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGTGGGGGCAGCGCCTCAC	0.652		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)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)	17											49.0	49.0	49.0					17																	7578403		2203	4300	6503	7519128	SO:0001583	missense	0	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.527G>A	17.37:g.7578403C>T	ENSP00000269305:p.Cys176Tyr	Somatic	691	2.49	18		1	98.78	81	WXS	Illumina HiSeq	Phase_IV	7519128	46	76.47	156	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	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD	p.C176Y	ENST00000269305.4	37	c.527	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497871	0.85069	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.996;0.997;0.998;0.998;0.997;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176Y;ENSP00000352610:C176Y;ENSP00000269305:C176Y;ENSP00000398846:C176Y;ENSP00000391127:C176Y;ENSP00000391478:C176Y;ENSP00000425104:C44Y;ENSP00000423862:C83Y	ENSP00000269305:C176Y	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC	-	superfamily_p53-like transcription factors,HMMPfam_P53		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7519128	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
MYO5B	4645	genome.wustl.edu	37	18	47518701	47518701	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr18:47518701T>C	ENST00000285039.7	-	6	1012	c.713A>G	c.(712-714)aAc>aGc	p.N238S		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	238	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGTCCTCATGTTGGCCCCGAT	0.488																																						dbGAP											0			18											239.0	227.0	231.0					18																	47518701		1971	4159	6130	45772699	SO:0001583	missense	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.713A>G	18.37:g.47518701T>C	ENSP00000285039:p.Asn238Ser	Somatic	1810	1.09	20		1	0.00	0	WXS	Illumina HiSeq	Phase_IV	45772699	96	61.99	168	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_DIL,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.N238S	ENST00000285039.7	37	c.713	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	T	20.9	4.073390	0.76415	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.87491	-2.26	5.65	5.65	0.86999	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.83271	0.5218	L	0.52266	1.64	0.80722	D	1	B;B	0.25719	0.132;0.042	B;B	0.29353	0.101;0.015	T	0.78280	-0.2265	10	0.08179	T	0.78	.	15.8433	0.78868	0.0:0.0:0.0:1.0	.	237;238	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	S	238;237	ENSP00000285039:N238S	ENSP00000285039:N238S	N	-	2	0	MYO5B	45772699	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.149000	0.71795	2.279000	0.76181	0.533000	0.62120	AAC	-	HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.488	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	protein_coding	OTTHUMT00000448515.2	T			45772699	-1	no_errors	NM_001080467.1	genbank	human	provisional	54_36p	missense	SNP	1.000	C
KIAA1683	80726	genome.wustl.edu	37	19	18376918	18376918	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr19:18376918T>C	ENST00000600328.3	-	3	1625	c.1432A>G	c.(1432-1434)Aag>Gag	p.K478E	KIAA1683_ENST00000392413.4_Missense_Mutation_p.K478E|KIAA1683_ENST00000600359.3_Missense_Mutation_p.K432E			Q9H0B3	K1683_HUMAN	KIAA1683	478						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GATGAAGTCTTGGACATTGTG	0.607																																						dbGAP											0			19											77.0	81.0	80.0					19																	18376918		2203	4300	6503	18237918	SO:0001583	missense	0			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.1432A>G	19.37:g.18376918T>C	ENSP00000470780:p.Lys478Glu	Somatic	517	2.44	13		3	40.00	2	WXS	Illumina HiSeq	Phase_IV	18237918	92	36.55	53	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.K478E	ENST00000600328.3	37	c.1432	CCDS32958.1	19	.	.	.	.	.	.	.	.	.	.	T	12.94	2.088199	0.36855	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634	T;T;T	0.12569	2.75;2.7;2.67	4.48	4.48	0.54585	.	.	.	.	.	T	0.14141	0.0342	L	0.52011	1.625	0.09310	N	1	B;B	0.31193	0.312;0.312	B;B	0.32980	0.156;0.156	T	0.17258	-1.0375	9	0.22109	T	0.4	.	10.0987	0.42491	0.0:0.0:0.0:1.0	.	478;478	E9PDE0;Q9H0B3	.;K1683_HUMAN	E	478;478;432	ENSP00000376213:K478E;ENSP00000352774:K478E;ENSP00000404501:K432E	ENSP00000352774:K478E	K	-	1	0	KIAA1683	18237918	0.977000	0.34250	0.059000	0.19551	0.008000	0.06430	1.942000	0.40243	1.880000	0.54463	0.459000	0.35465	AAG	-	NULL		0.607	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1683	protein_coding	OTTHUMT00000466312.3	T			18237918	-1	no_errors	NM_025249.1	genbank	human	validated	54_36p	missense	SNP	0.020	C
