#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
ATP8A2	51761	hgsc.bcm.edu	37	13	26043210	26043211	+	Frame_Shift_Ins	INS	-	-	T			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr13:26043210_26043211insT	ENST00000381655.2	+	2	314_315	c.172_173insT	c.(172-174)attfs	p.I58fs	ATP8A2_ENST00000255283.8_Frame_Shift_Ins_p.I18fs	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	18					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)	p.Y59fs*32(1)		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)		CGCCCGCACCATTTACCTCAAC	0.589																																																1	Insertion - Frameshift(1)	ovary(1)	13																																								24941211	SO:0001589	frameshift_variant	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.175dupT	13.37:g.26043213_26043213dupT	ENSP00000371070:p.Ile58fs		24941210	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Frame_Shift_Ins	INS	ENST00000381655.2	37	CCDS41873.1																																																																																				0.589	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529	
FAM220A	84792	hgsc.bcm.edu	37	7	6370570	6370570	+	Silent	SNP	A	A	G	rs61996356	byFrequency	TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr7:6370570A>G	ENST00000313324.4	-	2	683	c.216T>C	c.(214-216)gcT>gcC	p.A72A	FAM220A_ENST00000533877.1_5'Flank	NM_001037163.1	NP_001032240.1	Q7Z4H9	F220A_HUMAN	family with sequence similarity 220, member A	72						nucleus (GO:0005634)		p.A72A(1)									GCCAGAGGCCAGCCCCGCTCG	0.537													A|||	19	0.00379393	0.0	0.0101	5008	,	,		18299	0.0		0.007	False		,,,				2504	0.0051															1	Substitution - coding silent(1)	ovary(1)	7						A		10,4396		0,10,2193	35.0	36.0	36.0		216	1.3	0.0	7	dbSNP_129	36	98,8498		0,98,4200	no	coding-synonymous	C7orf70	NM_001037163.1		0,108,6393	GG,GA,AA		1.1401,0.227,0.8306		72/260	6370570	108,12894	2203	4298	6501	6337095	SO:0001819	synonymous_variant	84792			BC006110	CCDS34599.1	7p22.1	2012-03-19	2012-03-19	2012-03-19	ENSG00000178397	ENSG00000178397			22422	protein-coding gene	gene with protein product	"""STAT3-interacting protein as a repressor"""		"""chromosome 7 open reading frame 70"""	C7orf70			Standard	NM_001037163		Approved	SIPAR, MGC12966	uc003spu.3	Q7Z4H9	OTTHUMG00000122091	ENST00000313324.4:c.216T>C	7.37:g.6370570A>G			6337095	Q75ML2|Q8NA52|Q9BRR7	Silent	SNP	ENST00000313324.4	37	CCDS34599.1																																																																																				0.537	FAM220A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000242853.2	NM_001037163	
CREBBP	1387	hgsc.bcm.edu	37	16	3820801	3820801	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr16:3820801C>T	ENST00000262367.5	-	14	3459	c.2650G>A	c.(2650-2652)Gct>Act	p.A884T	CREBBP_ENST00000382070.3_Missense_Mutation_p.A846T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	884					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A884T(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGAGTGGGAGCTGCTGGCTGG	0.637			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	1	Substitution - Missense(1)	ovary(1)	16											80.0	72.0	75.0					16																	3820801		2197	4300	6497	3760802	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2650G>A	16.37:g.3820801C>T	ENSP00000262367:p.Ala884Thr		3760802	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428387	0.62844	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.84146	-1.81;-1.72	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.79009	0.4374	L	0.29908	0.895	0.58432	D	0.999999	B;B	0.33694	0.421;0.421	B;B	0.27608	0.081;0.081	T	0.76924	-0.2779	10	0.42905	T	0.14	-14.6421	20.181	0.98201	0.0:1.0:0.0:0.0	.	914;884	Q4LE28;Q92793	.;CBP_HUMAN	T	884;914;846	ENSP00000262367:A884T;ENSP00000371502:A846T	ENSP00000262367:A884T	A	-	1	0	CREBBP	3760802	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	5.312000	0.65792	2.840000	0.97914	0.655000	0.94253	GCT		0.637	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
DNAH5	1767	hgsc.bcm.edu	37	5	13777370	13777373	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	TGTC	TGTC	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr5:13777370_13777373delTGTC	ENST00000265104.4	-	54	9147_9150	c.9043_9046delGACA	c.(9043-9048)gacaatfs	p.DN3015fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3015	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D3015fs*12(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTAATCTCATTGTCTGTGAAAATA	0.343									Kartagener syndrome																																							1	Deletion - Frameshift(1)	ovary(1)	5																																								13830373	SO:0001589	frameshift_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9043_9046delGACA	5.37:g.13777370_13777373delTGTC	ENSP00000265104:p.Asp3015fs		13830370	Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Del	DEL	ENST00000265104.4	37	CCDS3882.1																																																																																				0.343	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
FANCA	2175	hgsc.bcm.edu	37	16	89816305	89816306	+	Frame_Shift_Ins	INS	-	-	A			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr16:89816305_89816306insA	ENST00000389301.3	-	32	3101_3102	c.3071_3072insT	c.(3070-3072)atgfs	p.M1024fs	FANCA_ENST00000568369.1_Frame_Shift_Ins_p.M1024fs	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1024					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.M1024fs*4(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGTCAGCTACCATCTCCTGAAA	0.609			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""Fanconi anemia, complementation group A"""		L	1	Insertion - Frameshift(1)	ovary(1)	16																																								88343807	SO:0001589	frameshift_variant	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3072dupT	16.37:g.89816306_89816306dupA	ENSP00000373952:p.Met1024fs		88343806	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Frame_Shift_Ins	INS	ENST00000389301.3	37	CCDS32515.1																																																																																				0.609	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1		
FITM1	161247	hgsc.bcm.edu	37	14	24600867	24600867	+	Frame_Shift_Del	DEL	C	C	-			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr14:24600867delC	ENST00000267426.5	+	1	384	c.95delC	c.(94-96)gccfs	p.A32fs	FITM1_ENST00000559294.1_5'Flank|RP11-468E2.6_ENST00000558325.1_Frame_Shift_Del_p.G219fs	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	32					lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.S33fs*57(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CTCTGGGTGGCCTCTGCCTTG	0.687																																																1	Deletion - Frameshift(1)	ovary(1)	14											32.0	36.0	35.0					14																	24600867		2203	4300	6503	23670707	SO:0001589	frameshift_variant	161247				CCDS9611.1	14q12	2009-07-09			ENSG00000139914	ENSG00000139914			33714	protein-coding gene	gene with protein product	"""fat-inducing transcript 1"""	612028				18160536	Standard	NM_203402		Approved	FIT1	uc001wmf.2	A5D6W6	OTTHUMG00000133476	ENST00000267426.5:c.95delC	14.37:g.24600867delC	ENSP00000267426:p.Ala32fs		23670707	Q8IUQ7	Frame_Shift_Del	DEL	ENST00000267426.5	37	CCDS9611.1																																																																																				0.687	FITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257366.1	NM_203402	
KCNIP3	30818	hgsc.bcm.edu	37	2	96040068	96040068	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr2:96040068T>C	ENST00000295225.5	+	3	341	c.206T>C	c.(205-207)cTg>cCg	p.L69P	KCNIP3_ENST00000468529.1_Missense_Mutation_p.L43P|KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000360990.3_Missense_Mutation_p.L69P	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	69	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.				apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244)	p.L69P(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		GAGCTGGAGCTGTCCACGGTG	0.597																																																1	Substitution - Missense(1)	ovary(1)	2											79.0	75.0	77.0					2																	96040068		2203	4300	6503	95403795	SO:0001583	missense	30818			AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041		"""EF-hand domain containing"""	15523	protein-coding gene	gene with protein product		604662	"""calsenilin, presenilin-binding protein, EF hand transcription factor"""	CSEN		9771752, 10078534	Standard	NM_013434		Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.206T>C	2.37:g.96040068T>C	ENSP00000295225:p.Leu69Pro		95403795	H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	Missense_Mutation	SNP	ENST00000295225.5	37	CCDS2013.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.896245	0.91962	.	.	ENSG00000115041	ENST00000295225;ENST00000360990;ENST00000468529	T;T;T	0.75704	1.98;-0.96;-0.61	5.39	5.39	0.77823	.	0.141559	0.48767	D	0.000180	T	0.81083	0.4749	L	0.52759	1.655	0.80722	D	1	D;D	0.65815	0.98;0.995	P;D	0.63793	0.804;0.918	T	0.82697	-0.0329	10	0.66056	D	0.02	.	13.3547	0.60621	0.0:0.0:0.0:1.0	.	43;69	Q9Y2W7-3;Q9Y2W7	.;CSEN_HUMAN	P	69;69;43	ENSP00000295225:L69P;ENSP00000354261:L69P;ENSP00000417499:L43P	ENSP00000295225:L69P	L	+	2	0	KCNIP3	95403795	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.924000	0.87555	2.037000	0.60232	0.459000	0.35465	CTG		0.597	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252770.1	NM_013434	
MYH7B	57644	hgsc.bcm.edu	37	20	33568865	33568865	+	Splice_Site	SNP	T	T	G			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr20:33568865T>G	ENST00000262873.7	+	7	745		c.e7+2		MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta							membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.?(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCTGATCACGTGAGTGTGGGG	0.572																																																1	Unknown(1)	ovary(1)	20											88.0	90.0	89.0					20																	33568865		1997	4191	6188	33032526	SO:0001630	splice_region_variant	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.653+2T>G	20.37:g.33568865T>G			33032526	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Splice_Site	SNP	ENST00000262873.7	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.672507	0.88348	.	.	ENSG00000078814	ENST00000262873	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3542	0.60619	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYH7B	33032526	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.009000	0.63998	1.993000	0.58246	0.523000	0.50628	.		0.572	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884	Intron
NLRC5	84166	hgsc.bcm.edu	37	16	57116341	57116341	+	Frame_Shift_Del	DEL	C	C	-			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr16:57116341delC	ENST00000262510.6	+	49	5727	c.5502delC	c.(5500-5502)aacfs	p.N1834fs	NLRC5_ENST00000308149.7_Frame_Shift_Del_p.N1805fs|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Frame_Shift_Del_p.N1805fs	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1834					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.I1836fs*9(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TCTGGAATAACCCCATTCCCT	0.562																																																1	Deletion - Frameshift(1)	ovary(1)	16											107.0	93.0	97.0					16																	57116341		2198	4300	6498	55673842	SO:0001589	frameshift_variant	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.5502delC	16.37:g.57116341delC	ENSP00000262510:p.Asn1834fs		55673842	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Frame_Shift_Del	DEL	ENST00000262510.6	37	CCDS10773.1																																																																																				0.562	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	
PINX1	54984	hgsc.bcm.edu	37	8	10623415	10623415	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr8:10623415A>C	ENST00000314787.3	-	7	602	c.483T>G	c.(481-483)agT>agG	p.S161R	CTD-2135J3.3_ENST00000519568.1_RNA|SOX7_ENST00000554914.1_Intron|SOX7_ENST00000553390.1_Intron|PINX1_ENST00000519088.1_Missense_Mutation_p.S136A|PINX1_ENST00000426190.2_Missense_Mutation_p.S134A|CTD-2135J3.3_ENST00000506149.2_RNA	NM_017884.4	NP_060354.4	Q96BK5	PINX1_HUMAN	PIN2/TERF1 interacting, telomerase inhibitor 1	161					mitotic metaphase plate congression (GO:0007080)|negative regulation of cell proliferation (GO:0008285)|negative regulation of telomerase activity (GO:0051974)|regulation of telomerase activity (GO:0051972)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|spindle (GO:0005819)	telomerase inhibitor activity (GO:0010521)|telomeric RNA binding (GO:0070034)	p.S161R(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		GAGTGGAGGGACTGGCATCGC	0.582																																																1	Substitution - Missense(1)	ovary(1)	8											124.0	132.0	129.0					8																	10623415		2107	4218	6325	10660825	SO:0001583	missense	54984			AF418553	CCDS47801.1, CCDS64825.1	8p23	2013-01-28				ENSG00000254093		"""G patch domain containing"""	30046	protein-coding gene	gene with protein product	"""PIN2 interacting protein 1"", ""liver-related putative tumor suppressor"""	606505				11003615, 11701125	Standard	NM_001284356		Approved	PinX1, LPTL, LPTS, FLJ20565, MGC8850		Q96BK5		ENST00000314787.3:c.483T>G	8.37:g.10623415A>C	ENSP00000318966:p.Ser161Arg		10660825	B2R9B1|Q548A5|Q6QWG9|Q7Z7J8|Q96QD7|Q9HBU7|Q9NWW2	Missense_Mutation	SNP	ENST00000314787.3	37	CCDS47801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.94|11.94	1.787658|1.787658	0.31593|0.31593	.|.	.|.	ENSG00000254093|ENSG00000254093	ENST00000426190;ENST00000519088|ENST00000314787;ENST00000524114	.|T;T	.|0.17528	.|2.27;2.78	5.7|5.7	-1.24|-1.24	0.09435|0.09435	.|.	0.377447|0.377447	0.34314|0.34314	N|N	0.004067|0.004067	T|T	0.29423|0.29423	0.0733|0.0733	M|M	0.80183|0.80183	2.485|2.485	0.09310|0.09310	N|N	1|1	B|D	0.06786|0.61697	0.001|0.99	B|P	0.01281|0.61533	0.0|0.89	T|T	0.08764|0.08764	-1.0706|-1.0706	9|10	0.36615|0.33141	T|T	0.2|0.24	.|.	4.4493|4.4493	0.11612|0.11612	0.3771:0.3022:0.3207:0.0|0.3771:0.3022:0.3207:0.0	.|.	136|161	Q96BK5-2|Q96BK5	.|PINX1_HUMAN	A|R	134;136|161;171	.|ENSP00000318966:S161R;ENSP00000428728:S171R	ENSP00000411396:S134A|ENSP00000318966:S161R	S|S	-|-	1|3	0|2	PINX1|PINX1	10660825|10660825	0.000000|0.000000	0.05858|0.05858	0.133000|0.133000	0.22050|0.22050	0.006000|0.006000	0.05464|0.05464	-0.089000|-0.089000	0.11180|0.11180	0.052000|0.052000	0.16007|0.16007	-0.242000|-0.242000	0.12053|0.12053	TCC|AGT		0.582	PINX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375683.1	NM_017884	
PLA2G4D	283748	hgsc.bcm.edu	37	15	42377337	42377337	+	Splice_Site	SNP	C	C	T			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr15:42377337C>T	ENST00000290472.3	-	6	523		c.e6-1			NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)	p.?(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GCGATCTGACCTGGAAAAATC	0.572																																																1	Unknown(1)	ovary(1)	15											128.0	119.0	122.0					15																	42377337		2203	4299	6502	40164629	SO:0001630	splice_region_variant	283748			AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.429-1G>A	15.37:g.42377337C>T			40164629	Q8N176	Splice_Site	SNP	ENST00000290472.3	37	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814511	0.70912	.	.	ENSG00000159337	ENST00000290472	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1063	0.72324	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLA2G4D	40164629	0.956000	0.32656	0.992000	0.48379	0.921000	0.55340	2.779000	0.47734	2.344000	0.79699	0.655000	0.94253	.		0.572	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034	Intron
PPARD	5467	hgsc.bcm.edu	37	6	35392166	35392166	+	Nonsense_Mutation	SNP	C	C	T			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr6:35392166C>T	ENST00000311565.4	+	8	1037	c.688C>T	c.(688-690)Cag>Tag	p.Q230*	PPARD_ENST00000444397.1_Nonsense_Mutation_p.Q230*|PPARD_ENST00000448077.2_Nonsense_Mutation_p.Q191*|PPARD_ENST00000418635.2_Nonsense_Mutation_p.Q132*|PPARD_ENST00000360694.3_Nonsense_Mutation_p.Q230*|PPARD_ENST00000540939.1_Nonsense_Mutation_p.Q127*|PPARD_ENST00000337400.2_Nonsense_Mutation_p.Q230*	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	230					adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.Q230*(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GGTGTGGAAGCAGTTGGTGAA	0.587																																																1	Substitution - Nonsense(1)	ovary(1)	6											61.0	56.0	57.0					6																	35392166		2203	4300	6503	35500144	SO:0001587	stop_gained	5467			L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.688C>T	6.37:g.35392166C>T	ENSP00000310928:p.Gln230*		35500144	A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Nonsense_Mutation	SNP	ENST00000311565.4	37	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	C	37	6.141382	0.97320	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	.	.	.	5.82	5.82	0.92795	.	0.124247	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	20.0953	0.97838	0.0:1.0:0.0:0.0	.	.	.	.	X	191;230;132;230;230;230;127	.	ENSP00000310928:Q230X	Q	+	1	0	PPARD	35500144	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.767000	0.95098	0.655000	0.94253	CAG		0.587	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238	
PRICKLE4	29964	hgsc.bcm.edu	37	6	41754573	41754574	+	In_Frame_Ins	INS	-	-	CTT	rs140326303|rs72602856|rs76510495	byFrequency	TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr6:41754573_41754574insCTT	ENST00000394260.1	+	5	741_742	c.741_742insCTT	c.(742-744)ctc>CTTctc	p.248_248L>LL	PRICKLE4_ENST00000458694.1_In_Frame_Ins_p.288_288L>LL|TOMM6_ENST00000398884.3_5'Flank|TOMM6_ENST00000398881.3_5'Flank|PRICKLE4_ENST00000394263.1_In_Frame_Ins_p.288_288L>LL			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	248				L -> LL (in Ref. 5; AAI10460). {ECO:0000305}.		nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.L287_L288insL(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCCGAACACTCCTCGCTGCTGC	0.639											OREG0017435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		3041	0.607228	0.6475	0.7017	5008	,	,		14273	0.5407		0.5129	False		,,,				2504	0.6513															2	Insertion - In frame(2)	ovary(2)	6								2718,1542		868,982,280						-3.6	0.0		dbSNP_131	78	4172,4082		1049,2074,1004	no	coding	PRICKLE4	NM_013397.5		1917,3056,1284	A1A1,A1R,RR		49.4548,36.1972,44.9417				6890,5624				41862552	SO:0001652	inframe_insertion	29964			AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"""chromosome 6 open reading frame 49"""	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	Exception_encountered	6.37:g.41754573_41754574insCTT	ENSP00000377803:p.Leu248dup	903	41862551	A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	In_Frame_Ins	INS	ENST00000394260.1	37																																																																																					0.639	PRICKLE4-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000303948.1	NM_013397	
PTK6	5753	hgsc.bcm.edu	37	20	62162163	62162163	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr20:62162163T>C	ENST00000217185.2	-	6	977	c.950A>G	c.(949-951)aAc>aGc	p.N317S	PTK6_ENST00000542869.1_Missense_Mutation_p.N216S	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	317	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.N317S(1)		endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	GACGAGGATGTTCCTGGCGGC	0.622																																																1	Substitution - Missense(1)	ovary(1)	20											99.0	86.0	90.0					20																	62162163		2203	4300	6503	61632607	SO:0001583	missense	5753			U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"""SH2 domain containing"""	9617	protein-coding gene	gene with protein product		602004	"""PTK6 protein tyrosine kinase 6"""			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.950A>G	20.37:g.62162163T>C	ENSP00000217185:p.Asn317Ser		61632607	B2RCR3|B4DW46|Q58F01	Missense_Mutation	SNP	ENST00000217185.2	37	CCDS13524.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.971453	0.74246	.	.	ENSG00000101213	ENST00000217185;ENST00000542869	D;D	0.97888	-4.59;-4.59	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45606	U	0.000358	D	0.99108	0.9693	H	0.96489	3.83	0.43076	D	0.994727	D	0.89917	1.0	D	0.87578	0.998	D	0.99541	1.0963	10	0.87932	D	0	.	14.0347	0.64638	0.0:0.0:0.0:1.0	.	317	Q13882	PTK6_HUMAN	S	317;216	ENSP00000217185:N317S;ENSP00000442460:N216S	ENSP00000217185:N317S	N	-	2	0	PTK6	61632607	1.000000	0.71417	0.993000	0.49108	0.427000	0.31564	3.963000	0.56773	1.969000	0.57287	0.482000	0.46254	AAC		0.622	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1		
RB1	5925	hgsc.bcm.edu	37	13	49030387	49030387	+	Missense_Mutation	SNP	G	G	C	rs373601944		TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr13:49030387G>C	ENST00000267163.4	+	19	2000	c.1862G>C	c.(1861-1863)cGt>cCt	p.R621P		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	621	Pocket; binds T and E1A.|Spacer.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)|p.R621P(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCAACTACGCGTGTAAATTCT	0.373		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	26	Whole gene deletion(15)|Unknown(10)|Substitution - Missense(1)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|ovary(1)|liver(1)	13											92.0	91.0	91.0					13																	49030387		2203	4300	6503	47928388	SO:0001583	missense	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1862G>C	13.37:g.49030387G>C	ENSP00000267163:p.Arg621Pro		47928388	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684011	0.29872	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.91996	-2.95	5.97	5.13	0.70059	.	0.210367	0.42548	D	0.000687	D	0.85396	0.5687	L	0.35723	1.085	0.42662	D	0.993485	B	0.11235	0.004	B	0.04013	0.001	T	0.78375	-0.2228	10	0.21014	T	0.42	.	7.1333	0.25515	0.0701:0.1308:0.6779:0.1212	.	621	P06400	RB_HUMAN	P	600;621	ENSP00000267163:R621P	ENSP00000267163:R621P	R	+	2	0	RB1	47928388	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.158000	0.42329	1.527000	0.49086	0.655000	0.94253	CGT		0.373	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
SLC39A12	221074	hgsc.bcm.edu	37	10	18270411	18270411	+	Splice_Site	SNP	G	G	C			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr10:18270411G>C	ENST00000377369.2	+	6	1368	c.1095G>C	c.(1093-1095)gaG>gaC	p.E365D	SLC39A12_ENST00000539911.1_Splice_Site_p.E231D|SLC39A12_ENST00000377371.3_Splice_Site_p.E365D|SLC39A12_ENST00000377374.4_Splice_Site_p.E365D	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	365					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)	p.E365D(1)		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						CCACTCTGGAGAGTAAGTTCT	0.443																																																1	Substitution - Missense(1)	ovary(1)	10											51.0	41.0	44.0					10																	18270411		2203	4299	6502	18310417	SO:0001630	splice_region_variant	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.1096+1G>C	10.37:g.18270411G>C			18310417	B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783954	0.70222	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.66815	-0.09;-0.23;-0.09;-0.16	6.01	2.76	0.32466	.	2.889450	0.00921	N	0.002592	T	0.80330	0.4603	M	0.78637	2.42	0.52501	D	0.999951	D;P;D	0.57899	0.966;0.9;0.981	P;P;P	0.57425	0.82;0.543;0.82	T	0.65051	-0.6262	10	0.54805	T	0.06	-21.3497	9.4051	0.38457	0.3268:0.0:0.6732:0.0	.	365;365;365	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	D	365;365;365;231;285	ENSP00000366586:E365D;ENSP00000366591:E365D;ENSP00000366588:E365D;ENSP00000440445:E231D	ENSP00000366586:E365D	E	+	3	2	SLC39A12	18310417	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	1.283000	0.33237	0.894000	0.36317	-0.140000	0.14226	GAG		0.443	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725	Missense_Mutation
STK10	6793	hgsc.bcm.edu	37	5	171520740	171520740	+	Frame_Shift_Del	DEL	C	C	-			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr5:171520740delC	ENST00000176763.5	-	9	1573	c.1230delG	c.(1228-1230)ctgfs	p.L410fs	STK10_ENST00000517775.1_5'Flank	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	410					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.R411fs*14(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGACTTCCGCAGGGGCACAG	0.627																																																1	Deletion - Frameshift(1)	ovary(1)	5											39.0	38.0	38.0					5																	171520740		2203	4300	6503	171453345	SO:0001589	frameshift_variant	6793			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1230delG	5.37:g.171520740delC	ENSP00000176763:p.Leu410fs		171453345	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Frame_Shift_Del	DEL	ENST00000176763.5	37	CCDS34290.1																																																																																				0.627	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990	
TECPR2	9895	hgsc.bcm.edu	37	14	102900803	102900803	+	Frame_Shift_Del	DEL	T	T	-			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr14:102900803delT	ENST00000359520.7	+	9	1875	c.1649delT	c.(1648-1650)ctgfs	p.L550fs	TECPR2_ENST00000558678.1_Frame_Shift_Del_p.L550fs	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	550					autophagy (GO:0006914)|cell death (GO:0008219)			p.L550fs*96(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TTTAATGTCCTGGAGGTGTCA	0.493																																																1	Deletion - Frameshift(1)	ovary(1)	14											86.0	88.0	87.0					14																	102900803		2203	4300	6503	101970556	SO:0001589	frameshift_variant	9895			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1649delT	14.37:g.102900803delT	ENSP00000352510:p.Leu550fs		101970556	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Frame_Shift_Del	DEL	ENST00000359520.7	37	CCDS32162.1																																																																																				0.493	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844	
ZFP64	55734	hgsc.bcm.edu	37	20	50769312	50769312	+	Frame_Shift_Del	DEL	C	C	-			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr20:50769312delC	ENST00000216923.4	-	6	1768	c.1419delG	c.(1417-1419)acgfs	p.T473fs	ZFP64_ENST00000346617.4_Frame_Shift_Del_p.T419fs|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Frame_Shift_Del_p.T471fs	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	473					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T473T(4)|p.L475fs*45(2)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CAGTGAGGGGCGTGGCGGGCT	0.602																																																6	Substitution - coding silent(4)|Deletion - Frameshift(2)	large_intestine(4)|ovary(2)	20											53.0	46.0	48.0					20																	50769312		2201	4297	6498	50202719	SO:0001589	frameshift_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	ENST00000216923.4:c.1419delG	20.37:g.50769312delC	ENSP00000216923:p.Thr473fs		50202719	Q9NTS7|Q9NVH4	Frame_Shift_Del	DEL	ENST00000216923.4	37	CCDS13440.1																																																																																				0.602	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197	
GORASP1	64689	hgsc.bcm.edu	37	3	39139971	39139971	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr3:39139971G>C	ENST00000319283.3	-	9	1900	c.1079C>G	c.(1078-1080)aCa>aGa	p.T360R	GORASP1_ENST00000476334.1_5'UTR|GORASP1_ENST00000479927.1_Missense_Mutation_p.T265R|GORASP1_ENST00000422110.2_Missense_Mutation_p.T205R	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa	360					Golgi organization (GO:0007030)|mitotic cell cycle (GO:0000278)|negative regulation of dendrite morphogenesis (GO:0050774)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)		p.T360R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CCCAGACCATGTAGCCTCACC	0.602																																																1	Substitution - Missense(1)	ovary(1)	3											45.0	44.0	45.0					3																	39139971		2203	4300	6503	39114975	SO:0001583	missense	64689			AJ409349	CCDS2681.1, CCDS63596.1, CCDS63597.1	3p22-p21.33	2008-04-23	2002-08-29	2002-05-24	ENSG00000114745	ENSG00000114745			16769	protein-coding gene	gene with protein product		606867	"""golgi phosphoprotein 5"""	GOLPH5			Standard	NM_001278789		Approved	GRASP65, P65, FLJ23443	uc003ciw.1	Q9BQQ3	OTTHUMG00000131292	ENST00000319283.3:c.1079C>G	3.37:g.39139971G>C	ENSP00000313869:p.Thr360Arg		39114975	B3KWC8|Q3SYG7|Q8N272|Q96H42	Missense_Mutation	SNP	ENST00000319283.3	37	CCDS2681.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787565	0.70337	.	.	ENSG00000114745	ENST00000319283;ENST00000422110;ENST00000479927	T;T;T	0.56776	0.71;0.44;0.61	4.53	4.53	0.55603	.	0.407288	0.25660	N	0.029159	T	0.68933	0.3055	M	0.67953	2.075	0.38604	D	0.950731	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.87578	0.994;0.998;0.946	T	0.73322	-0.4019	10	0.62326	D	0.03	-6.8404	12.933	0.58296	0.0:0.0:1.0:0.0	.	265;205;360	B4E1H8;B3KPY8;Q9BQQ3	.;.;GORS1_HUMAN	R	360;205;265	ENSP00000313869:T360R;ENSP00000395709:T205R;ENSP00000419123:T265R	ENSP00000313869:T360R	T	-	2	0	GORASP1	39114975	0.997000	0.39634	0.982000	0.44146	0.968000	0.65278	4.050000	0.57404	2.497000	0.84241	0.650000	0.86243	ACA		0.602	GORASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254060.1		
CLDN18	51208	hgsc.bcm.edu	37	3	137717810	137717810	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr3:137717810G>A	ENST00000343735.4	+	1	234	c.100G>A	c.(100-102)Gac>Aac	p.D34N		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	34					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.D34N(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GAGCACCCAAGACTTGTACAA	0.582																																																1	Substitution - Missense(1)	ovary(1)	3											132.0	114.0	120.0					3																	137717810		2203	4300	6503	139200500	SO:0001583	missense	51208			AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"""Claudins"""	2039	protein-coding gene	gene with protein product		609210	"""surfactant associated protein J"""	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000343735.4:c.100G>A	3.37:g.137717810G>A	ENSP00000340939:p.Asp34Asn		139200500	A5PL21|Q96PH4	Missense_Mutation	SNP	ENST00000343735.4	37	CCDS33862.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615145	0.66672	.	.	ENSG00000066405	ENST00000343735	D	0.88896	-2.44	4.13	4.13	0.48395	.	0.146390	0.45361	D	0.000372	D	0.92890	0.7738	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90862	0.4739	9	0.21014	T	0.42	.	16.9489	0.86239	0.0:0.0:1.0:0.0	.	34	P56856-2	.	N	34	ENSP00000340939:D34N	ENSP00000340939:D34N	D	+	1	0	CLDN18	139200500	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.143000	0.89621	2.299000	0.77371	0.563000	0.77884	GAC		0.582	CLDN18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357198.2	NM_001002026	
HTR2A	3356	hgsc.bcm.edu	37	13	47466628	47466628	+	Silent	SNP	C	C	T			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr13:47466628C>T	ENST00000378688.4	-	2	641	c.510G>A	c.(508-510)tcG>tcA	p.S170S	HTR2A_ENST00000543956.1_Silent_p.S86S|HTR2A_ENST00000542664.1_Silent_p.S170S			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	170					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.S170S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGCGGTCCAGCGAGATGGCGC	0.547																																																1	Substitution - coding silent(1)	ovary(1)	13											229.0	217.0	221.0					13																	47466628		2203	4300	6503	46364629	SO:0001819	synonymous_variant	3356			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.510G>A	13.37:g.47466628C>T			46364629	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Silent	SNP	ENST00000378688.4	37	CCDS9405.1																																																																																				0.547	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621	
U2SURP	23350	hgsc.bcm.edu	37	3	142753779	142753779	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr3:142753779C>T	ENST00000473835.2	+	19	1993	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C	U2SURP_ENST00000397933.2_Missense_Mutation_p.R226C|U2SURP_ENST00000493598.2_Missense_Mutation_p.R634C	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	635	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R635C(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TGCCACCTATCGTACAATTCA	0.318																																																1	Substitution - Missense(1)	ovary(1)	3											65.0	68.0	67.0					3																	142753779		1828	4088	5916	144236469	SO:0001583	missense	23350			BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.1903C>T	3.37:g.142753779C>T	ENSP00000418563:p.Arg635Cys		144236469	A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615257	0.87359	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000397933;ENST00000493598;ENST00000480029	T;T	0.12039	2.72;2.73	5.6	5.6	0.85130	ENTH/VHS (1);RNA polymerase II, large subunit, CTD (2);	0.047990	0.85682	D	0.000000	T	0.28797	0.0714	L	0.47190	1.495	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.996	P;D;P	0.64144	0.825;0.922;0.673	T	0.00379	-1.1777	10	0.72032	D	0.01	-11.0851	14.4462	0.67352	0.1472:0.8528:0.0:0.0	.	634;226;635	O15042-2;O15042-3;O15042	.;.;SR140_HUMAN	C	635;635;226;634;202	ENSP00000418563:R635C;ENSP00000422011:R634C	ENSP00000322376:R635C	R	+	1	0	U2SURP	144236469	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.237000	0.65360	2.635000	0.89317	0.650000	0.86243	CGT		0.318	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415	
ARHGEF26	26084	hgsc.bcm.edu	37	3	153943692	153943692	+	Silent	SNP	A	A	G			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr3:153943692A>G	ENST00000356448.4	+	11	2267	c.1983A>G	c.(1981-1983)gaA>gaG	p.E661E	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Silent_p.E661E|ARHGEF26_ENST00000483068.1_3'UTR	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	661	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E661E(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AAAGAGGTGAATTGACAGCCT	0.398																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)											1	Substitution - coding silent(1)	ovary(1)	3											164.0	144.0	151.0					3																	153943692		1872	4104	5976	155426382	SO:0001819	synonymous_variant	26084			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.1983A>G	3.37:g.153943692A>G			155426382	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Silent	SNP	ENST00000356448.4	37	CCDS46938.1																																																																																				0.398	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595	
WDR47	22911	hgsc.bcm.edu	37	1	109538235	109538235	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr1:109538235G>C	ENST00000369962.3	-	8	1880	c.1658C>G	c.(1657-1659)cCt>cGt	p.P553R	WDR47_ENST00000369965.4_Missense_Mutation_p.P554R|WDR47_ENST00000361054.3_Missense_Mutation_p.P525R|WDR47_ENST00000357672.3_Missense_Mutation_p.P525R|WDR47_ENST00000400794.3_Missense_Mutation_p.P561R			O94967	WDR47_HUMAN	WD repeat domain 47	553					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.P554R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTCCAGAAAAGGTATGTGATT	0.373																																																1	Substitution - Missense(1)	ovary(1)	1											220.0	222.0	222.0					1																	109538235		2203	4296	6499	109339758	SO:0001583	missense	22911			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.1658C>G	1.37:g.109538235G>C	ENSP00000358979:p.Pro553Arg		109339758	A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258443	0.80246	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.58940	0.35;0.3;0.35;0.35;0.35	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.52933	0.1765	L	0.34521	1.04	0.80722	D	1	P;P;P;D	0.57571	0.85;0.766;0.875;0.98	B;B;B;P	0.56700	0.325;0.243;0.307;0.804	T	0.39603	-0.9606	10	0.23891	T	0.37	-10.856	19.7779	0.96402	0.0:0.0:1.0:0.0	.	525;561;553;554	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	R	561;553;525;554;525	ENSP00000383599:P561R;ENSP00000358979:P553R;ENSP00000354339:P525R;ENSP00000358982:P554R;ENSP00000350301:P525R	ENSP00000350301:P525R	P	-	2	0	WDR47	109339758	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.122000	0.77169	2.748000	0.94277	0.462000	0.41574	CCT		0.373	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969	
WDR74	54663	hgsc.bcm.edu	37	11	62601957	62601957	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr11:62601957G>C	ENST00000525239.1	-	8	1198	c.661C>G	c.(661-663)Cta>Gta	p.L221V	RP11-727F15.9_ENST00000535867.1_RNA|WDR74_ENST00000311713.7_Missense_Mutation_p.L221V|WDR74_ENST00000278856.4_Missense_Mutation_p.L221V|WDR74_ENST00000525752.1_Missense_Mutation_p.L164V|STX5_ENST00000377897.4_5'Flank|STX5_ENST00000394690.1_5'Flank|STX5_ENST00000294179.3_5'Flank|RP11-727F15.9_ENST00000535817.1_RNA|WDR74_ENST00000540620.1_5'Flank|STX5_ENST00000541317.1_5'Flank|WDR74_ENST00000529106.1_Missense_Mutation_p.L221V			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	221					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)		p.L221V(1)		kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						GTGGTCTCTAGGACTGGCCGG	0.582																																																1	Substitution - Missense(1)	ovary(1)	11											41.0	46.0	44.0					11																	62601957		1975	4160	6135	62358533	SO:0001583	missense	54663				CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"""WD repeat domain containing"""	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.661C>G	11.37:g.62601957G>C	ENSP00000432119:p.Leu221Val		62358533	A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Missense_Mutation	SNP	ENST00000525239.1	37	CCDS44630.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819512	0.50633	.	.	ENSG00000133316	ENST00000311713;ENST00000529106;ENST00000525239;ENST00000278856;ENST00000525752	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	4.31	4.31	0.51392	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000005	T	0.37785	0.1016	L	0.49513	1.565	0.38143	D	0.938504	P;D;D	0.59357	0.93;0.985;0.981	P;P;P	0.55577	0.496;0.614;0.779	T	0.25745	-1.0123	10	0.41790	T	0.15	-7.1027	8.0033	0.30310	0.1099:0.0:0.8901:0.0	.	164;221;221	E9PS41;Q6RFH5;Q6RFH5-2	.;WDR74_HUMAN;.	V	221;221;221;221;164	ENSP00000308931:L221V;ENSP00000435726:L221V;ENSP00000432119:L221V;ENSP00000278856:L221V;ENSP00000432113:L164V	ENSP00000278856:L221V	L	-	1	2	WDR74	62358533	1.000000	0.71417	0.991000	0.47740	0.987000	0.75469	3.120000	0.50430	2.201000	0.70794	0.563000	0.77884	CTA		0.582	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395678.1	NM_018093	
ASTN1	460	hgsc.bcm.edu	37	1	176838004	176838004	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr1:176838004C>T	ENST00000367654.3	-	22	3858	c.3647G>A	c.(3646-3648)cGa>cAa	p.R1216Q	ASTN1_ENST00000361833.2_Missense_Mutation_p.R1208Q|ASTN1_ENST00000367657.3_Missense_Mutation_p.R1208Q|ASTN1_ENST00000424564.2_Missense_Mutation_p.R1208Q	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1216					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.R1208Q(3)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ATCCTCACATCGCCAGGTGAA	0.468																																																3	Substitution - Missense(3)	ovary(1)|large_intestine(1)|endometrium(1)	1											119.0	117.0	117.0					1																	176838004		2203	4300	6503	175104627	SO:0001583	missense	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3647G>A	1.37:g.176838004C>T	ENSP00000356626:p.Arg1216Gln		175104627	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	C	36	5.937872	0.97122	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.27557	1.66;2.07;2.07;1.67	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	T	0.43343	-0.9397	10	0.87932	D	0	-29.5501	19.9003	0.96983	0.0:1.0:0.0:0.0	.	1208;1208	O14525-2;B1AJS1	.;.	Q	1208;1208;1216;1208;1208	ENSP00000356629:R1208Q;ENSP00000354536:R1208Q;ENSP00000356626:R1216Q;ENSP00000395041:R1208Q	ENSP00000354536:R1208Q	R	-	2	0	ASTN1	175104627	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.679000	0.84048	2.808000	0.96608	0.655000	0.94253	CGA		0.468	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	
CDH6	1004	hgsc.bcm.edu	37	5	31323161	31323161	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr5:31323161C>T	ENST00000265071.2	+	12	2384	c.2119C>T	c.(2119-2121)Cgc>Tgc	p.R707C		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	707					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R707C(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCCAACAGCTCGCGACAACAC	0.522																																																1	Substitution - Missense(1)	ovary(1)	5											71.0	69.0	70.0					5																	31323161		2203	4300	6503	31358918	SO:0001583	missense	1004			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2119C>T	5.37:g.31323161C>T	ENSP00000265071:p.Arg707Cys		31358918	A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053313	0.55218	.	.	ENSG00000113361	ENST00000265071	T	0.77358	-1.09	5.66	3.88	0.44766	Cadherin, cytoplasmic domain (1);	1.041290	0.07442	N	0.897520	D	0.83078	0.5176	L	0.43152	1.355	0.24203	N	0.995504	D	0.76494	0.999	P	0.61658	0.892	T	0.69335	-0.5172	10	0.62326	D	0.03	.	12.091	0.53726	0.0:0.8138:0.1208:0.0654	.	707	P55285	CADH6_HUMAN	C	707	ENSP00000265071:R707C	ENSP00000265071:R707C	R	+	1	0	CDH6	31358918	1.000000	0.71417	0.054000	0.19295	0.987000	0.75469	5.981000	0.70524	0.859000	0.35456	0.655000	0.94253	CGC		0.522	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932	
C5orf42	65250	hgsc.bcm.edu	37	5	37185035	37185035	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr5:37185035G>C	ENST00000508244.1	-	24	4429	c.4336C>G	c.(4336-4338)Cca>Gca	p.P1446A	C5orf42_ENST00000274258.7_Missense_Mutation_p.P327A|C5orf42_ENST00000425232.2_Missense_Mutation_p.P1446A			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1446						integral component of membrane (GO:0016021)		p.P327A(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TCAACACCTGGAGCCTCATCT	0.433																																																1	Substitution - Missense(1)	ovary(1)	5											157.0	138.0	145.0					5																	37185035		2203	4300	6503	37220792	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4336C>G	5.37:g.37185035G>C	ENSP00000421690:p.Pro1446Ala		37220792	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	0.562	-0.845038	0.02671	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	6.08	-0.00465	0.14021	.	1.367400	0.04786	N	0.430692	T	0.43634	0.1256	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.09377	0.003;0.004	T	0.25047	-1.0143	10	0.02654	T	1	.	3.6991	0.08375	0.1776:0.3291:0.3894:0.1039	.	1446;327	E9PH94;Q9H799	.;CE042_HUMAN	A	1446;1446;327;494;327	ENSP00000421690:P1446A;ENSP00000389014:P1446A;ENSP00000274258:P327A;ENSP00000424223:P494A	ENSP00000274258:P327A	P	-	1	0	C5orf42	37220792	0.003000	0.15002	0.000000	0.03702	0.543000	0.35085	0.978000	0.29488	-0.295000	0.08960	0.591000	0.81541	CCA		0.433	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
GRIN2B	2904	hgsc.bcm.edu	37	12	13768146	13768146	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr12:13768146C>T	ENST00000609686.1	-	7	1765	c.1556G>A	c.(1555-1557)cGa>cAa	p.R519Q		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	519					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R519Q(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CACCTCCGATCGTTCCTCATT	0.517																																																2	Substitution - Missense(2)	ovary(2)	12											158.0	125.0	136.0					12																	13768146		2203	4300	6503	13659413	SO:0001583	missense	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1556G>A	12.37:g.13768146C>T	ENSP00000477455:p.Arg519Gln		13659413	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	37	6.060417	0.97246	.	.	ENSG00000150086	ENST00000279593	T	0.70631	-0.5	6.17	6.17	0.99709	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.90549	0.7038	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92383	0.5915	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	519	Q13224	NMDE2_HUMAN	Q	519	ENSP00000279593:R519Q	ENSP00000279593:R519Q	R	-	2	0	GRIN2B	13659413	1.000000	0.71417	0.940000	0.37924	0.994000	0.84299	7.813000	0.86123	2.941000	0.99782	0.655000	0.94253	CGA		0.517	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2		
HMCN1	83872	hgsc.bcm.edu	37	1	185880900	185880900	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr1:185880900G>A	ENST00000271588.4	+	6	1117	c.888G>A	c.(886-888)atG>atA	p.M296I	HMCN1_ENST00000367492.2_Missense_Mutation_p.M296I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	296					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.M296I(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGGCTGGAATGTGGACAGTGA	0.358																																																1	Substitution - Missense(1)	ovary(1)	1											152.0	167.0	162.0					1																	185880900		2203	4300	6503	184147523	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.888G>A	1.37:g.185880900G>A	ENSP00000271588:p.Met296Ile		184147523	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141310	0.37825	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.62788	0.01;0.0	5.63	2.63	0.31362	.	0.243312	0.53938	N	0.000060	T	0.42177	0.1191	N	0.24115	0.695	0.49687	D	0.999812	B	0.02656	0.0	B	0.04013	0.001	T	0.12426	-1.0548	10	0.30078	T	0.28	.	6.6753	0.23090	0.2379:0.1297:0.6325:0.0	.	296	Q96RW7	HMCN1_HUMAN	I	296	ENSP00000271588:M296I;ENSP00000356462:M296I	ENSP00000271588:M296I	M	+	3	0	HMCN1	184147523	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	2.401000	0.44513	0.356000	0.24157	0.555000	0.69702	ATG		0.358	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
HYDIN	54768	hgsc.bcm.edu	37	16	70861276	70861276	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr16:70861276G>A	ENST00000393567.2	-	83	14465	c.14315C>T	c.(14314-14316)cCg>cTg	p.P4772L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4772					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.P4723L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCTTAGGTCCGGCTTCTCTGG	0.473																																																1	Substitution - Missense(1)	ovary(1)	16											1.0	1.0	1.0					16																	70861276		6	9	15	69418777	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.14315C>T	16.37:g.70861276G>A	ENSP00000377197:p.Pro4772Leu		69418777	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	9.225	1.034437	0.19590	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00824	5.65	5.07	1.66	0.24008	.	0.248618	0.19846	U	0.104752	T	0.00468	0.0015	N	0.04669	-0.19	0.22171	N	0.999316	B	0.18610	0.029	B	0.17722	0.019	T	0.48115	-0.9063	10	0.11485	T	0.65	.	4.1906	0.10419	0.2036:0.0:0.4521:0.3444	.	4771	F8WD23	.	L	4772;4771	ENSP00000377197:P4772L	ENSP00000313052:P4771L	P	-	2	0	HYDIN	69418777	0.001000	0.12720	0.987000	0.45799	0.983000	0.72400	1.134000	0.31442	1.090000	0.41315	0.511000	0.50034	CCG		0.473	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
RHOA	387	hgsc.bcm.edu	37	3	49412973	49412973	+	Missense_Mutation	SNP	C	C	A	rs11552761		TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr3:49412973C>A	ENST00000418115.1	-	2	434	c.50G>T	c.(49-51)gGa>gTa	p.G17V	RHOA_ENST00000454011.2_Missense_Mutation_p.G17V|RHOA_ENST00000422781.1_Missense_Mutation_p.G17V	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	17					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)	p.G17V(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GCATGTCTTTCCACAGGCTCC	0.473																																																1	Substitution - Missense(1)	ovary(1)	3											140.0	126.0	130.0					3																	49412973		2203	4300	6503	49387977	SO:0001583	missense	387			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.50G>T	3.37:g.49412973C>A	ENSP00000400175:p.Gly17Val		49387977	P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	C	31	5.064454	0.93898	.	.	ENSG00000067560	ENST00000418115;ENST00000454011;ENST00000422781;ENST00000445425;ENST00000431929	D;D;D;D;D	0.97791	-4.54;-4.54;-4.54;-4.54;-4.54	5.89	5.89	0.94794	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.99342	0.9769	H	0.98664	4.295	0.80722	D	1	D	0.67145	0.996	D	0.79108	0.992	D	0.98586	1.0652	10	0.87932	D	0	.	18.8947	0.92419	0.0:1.0:0.0:0.0	.	17	P61586	RHOA_HUMAN	V	17	ENSP00000400175:G17V;ENSP00000394483:G17V;ENSP00000413587:G17V;ENSP00000408402:G17V;ENSP00000400747:G17V	ENSP00000400175:G17V	G	-	2	0	RHOA	49387977	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.652000	0.83633	2.809000	0.96659	0.558000	0.71614	GGA		0.473	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664	
SULF2	55959	hgsc.bcm.edu	37	20	46365453	46365453	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr20:46365453G>A	ENST00000359930.4	-	3	1260	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	SULF2_ENST00000484875.1_Missense_Mutation_p.R137W|SULF2_ENST00000467815.1_Missense_Mutation_p.R137W|SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000361612.4_Missense_Mutation_p.R137W	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	137					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.R137W(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCACCTGTCCGGTAGCCAGTG	0.622																																																1	Substitution - Missense(1)	ovary(1)	20											99.0	74.0	82.0					20																	46365453		2203	4300	6503	45798860	SO:0001583	missense	55959			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.409C>T	20.37:g.46365453G>A	ENSP00000353007:p.Arg137Trp		45798860	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772157	0.69992	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815;ENST00000437955	D;D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1;-5.1	5.24	3.15	0.36227	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99233	0.9733	M	0.93720	3.45	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.977;1.0;1.0	D	0.99204	1.0874	10	0.87932	D	0	-17.1006	12.0361	0.53425	0.0:0.0:0.4547:0.5453	.	137;137;137	G3XAE6;Q8IWU5-2;Q8IWU5	.;.;SULF2_HUMAN	W	137	ENSP00000353007:R137W;ENSP00000418290:R137W;ENSP00000354662:R137W;ENSP00000418442:R137W;ENSP00000410026:R137W	ENSP00000353007:R137W	R	-	1	2	SULF2	45798860	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	2.046000	0.41260	1.193000	0.43086	-0.310000	0.09108	CGG		0.622	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837	
FPGT-TNNI3K	100526835	hgsc.bcm.edu	37	1	74929181	74929181	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr1:74929181A>T	ENST00000370899.3	+	23	2408	c.2371A>T	c.(2371-2373)Att>Ttt	p.I791F	TNNI3K_ENST00000326637.3_Missense_Mutation_p.I690F|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.I804F|TNNI3K_ENST00000370891.2_Missense_Mutation_p.I791F	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.I690F(1)									TGGCTATTCCATTCCCAAGCC	0.438																																																1	Substitution - Missense(1)	ovary(1)	1											183.0	168.0	173.0					1																	74929181		2203	4300	6503	74701769	SO:0001583	missense	51086					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.2371A>T	1.37:g.74929181A>T	ENSP00000359936:p.Ile791Phe		74701769		Missense_Mutation	SNP	ENST00000370899.3	37		.	.	.	.	.	.	.	.	.	.	A	11.15	1.553703	0.27739	.	.	ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000557284;ENST00000370891;ENST00000326637	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.91	4.78	0.61160	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	N	0.21142	0.635	0.58432	D	0.999996	B;B;B	0.31931	0.116;0.347;0.095	B;B;B	0.28011	0.085;0.069;0.051	T	0.55392	-0.8148	10	0.21014	T	0.42	.	11.7107	0.51623	0.9304:0.0:0.0696:0.0	.	690;791;791	Q59H18;Q59H18-1;Q59H18-4	TNI3K_HUMAN;.;.	F	791;791;791;690	ENSP00000359936:I791F;ENSP00000450895:I791F;ENSP00000359928:I791F;ENSP00000322251:I690F	ENSP00000322251:I690F	I	+	1	0	RP11-653A5.2;AC093158.1	74701769	1.000000	0.71417	0.690000	0.30148	0.571000	0.35966	5.656000	0.67988	1.056000	0.40484	0.533000	0.62120	ATT		0.438	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3		
TP53	7157	hgsc.bcm.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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"""	217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)	17											47.0	47.0	47.0					17																	7578394		2203	4300	6503	7519119	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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg		7519119	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
