#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
FLG2	388698	broad.mit.edu	37	1	152324055	152324055	+	Silent	SNP	G	G	A	rs537172304		TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr1:152324055G>A	ENST00000388718.5	-	3	6279	c.6207C>T	c.(6205-6207)caC>caT	p.H2069H	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2069					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H2069H(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTAGTTCCGTGTCTCTCAT	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		29224	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	1											547.0	482.0	504.0					1																	152324055		2203	4300	6503	150590679	SO:0001819	synonymous_variant	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6207C>T	1.37:g.152324055G>A			150590679	Q9H4U1	Silent	SNP	ENST00000388718.5	37	CCDS30861.1																																																																																				0.532	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
RCSD1	92241	broad.mit.edu	37	1	167666650	167666650	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr1:167666650G>T	ENST00000367854.3	+	6	1120	c.789G>T	c.(787-789)aaG>aaT	p.K263N	RCSD1_ENST00000537350.1_Missense_Mutation_p.K233N	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	263	RCSD.				cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)	p.K263N(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					ACGGTGAAAAGGCCAGGCGGA	0.627																																																1	Substitution - Missense(1)	ovary(1)	1											45.0	63.0	57.0					1																	167666650		2201	4299	6500	165933274	SO:0001583	missense	92241			BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.789G>T	1.37:g.167666650G>T	ENSP00000356828:p.Lys263Asn		165933274	B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	37	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236717	0.22711	.	.	ENSG00000198771	ENST00000367854;ENST00000537350	T;T	0.48201	0.83;0.82	4.68	2.54	0.30619	.	1.779960	0.02448	N	0.085260	T	0.15176	0.0366	L	0.32530	0.975	0.33704	D	0.614952	B;B	0.21071	0.026;0.051	B;B	0.20577	0.008;0.03	T	0.09684	-1.0663	9	0.20519	T	0.43	-3.1606	3.7108	0.08418	0.0967:0.116:0.5241:0.2632	.	233;263	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	N	263;233	ENSP00000356828:K263N;ENSP00000439409:K233N	ENSP00000356828:K263N	K	+	3	2	RCSD1	165933274	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	0.578000	0.23773	0.941000	0.37499	0.460000	0.39030	AAG		0.627	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862	
HMCN1	83872	broad.mit.edu	37	1	186084057	186084057	+	Nonsense_Mutation	SNP	C	C	T	rs150673369		TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr1:186084057C>T	ENST00000271588.4	+	74	11612	c.11383C>T	c.(11383-11385)Cga>Tga	p.R3795*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.R3795*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3795	Ig-like C2-type 36.				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.R3795*(2)		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						AGATCGCAGGCGAATAGATTT	0.423																																																2	Substitution - Nonsense(2)	ovary(1)|prostate(1)	1						C	stop/ARG	0,4406		0,0,2203	174.0	168.0	170.0		11383	0.4	0.9	1	dbSNP_134	170	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	HMCN1	NM_031935.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		3795/5636	186084057	1,13005	2203	4300	6503	184350680	SO:0001587	stop_gained	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.11383C>T	1.37:g.186084057C>T	ENSP00000271588:p.Arg3795*		184350680	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	53	21.554364	0.99941	0.0	1.16E-4	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.03	0.405	0.16361	.	0.167438	0.52532	D	0.000078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	13.0711	0.59061	0.5598:0.4402:0.0:0.0	.	.	.	.	X	3795	.	ENSP00000271588:R3795X	R	+	1	2	HMCN1	184350680	0.999000	0.42202	0.947000	0.38551	0.974000	0.67602	0.735000	0.26115	0.176000	0.19873	0.563000	0.77884	CGA		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
PLD5	200150	broad.mit.edu	37	1	242383405	242383405	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr1:242383405G>A	ENST00000536534.2	-	5	861	c.620C>T	c.(619-621)aCg>aTg	p.T207M	PLD5_ENST00000427495.1_Missense_Mutation_p.T145M|PLD5_ENST00000442594.2_Missense_Mutation_p.T115M			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	207						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.T115M(3)|p.T207M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GTTCATGTACGTCACCTCGGC	0.557																																																4	Substitution - Missense(4)	lung(2)|ovary(1)|large_intestine(1)	1											131.0	118.0	123.0					1																	242383405		2203	4300	6503	240450028	SO:0001583	missense	200150			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.620C>T	1.37:g.242383405G>A	ENSP00000440896:p.Thr207Met		240450028	A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226328	0.39300	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.13778	2.56;2.56;2.56	5.52	4.6	0.57074	.	0.238118	0.43747	D	0.000527	T	0.07548	0.0190	N	0.17474	0.49	0.33978	D	0.647606	B;B;B	0.33694	0.421;0.297;0.421	B;B;B	0.21360	0.034;0.015;0.023	T	0.14420	-1.0473	10	0.54805	T	0.06	-20.8238	10.7734	0.46336	0.0909:0.0:0.9091:0.0	.	115;207;145	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	M	145;115;207	ENSP00000401285:T145M;ENSP00000414188:T115M;ENSP00000440896:T207M	ENSP00000401285:T145M	T	-	2	0	PLD5	240450028	0.983000	0.35010	0.999000	0.59377	0.995000	0.86356	1.828000	0.39111	2.591000	0.87537	0.655000	0.94253	ACG		0.557	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666	
KIAA1217	56243	broad.mit.edu	37	10	24762850	24762850	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr10:24762850G>A	ENST00000376454.3	+	6	1570	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K	KIAA1217_ENST00000376462.1_Missense_Mutation_p.E434K|KIAA1217_ENST00000430453.2_Missense_Mutation_p.E435K|KIAA1217_ENST00000376452.3_Missense_Mutation_p.E514K|KIAA1217_ENST00000307544.6_Missense_Mutation_p.E232K|KIAA1217_ENST00000458595.1_Missense_Mutation_p.E514K|KIAA1217_ENST00000376451.2_Missense_Mutation_p.E232K|KIAA1217_ENST00000396446.1_Missense_Mutation_p.E232K|KIAA1217_ENST00000396445.1_Missense_Mutation_p.E232K	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	514					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.E514K(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTTTAAAAAGGAGCCAGGCAC	0.562																																																1	Substitution - Missense(1)	ovary(1)	10											58.0	60.0	60.0					10																	24762850		2203	4300	6503	24802856	SO:0001583	missense	56243			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1540G>A	10.37:g.24762850G>A	ENSP00000365637:p.Glu514Lys		24802856	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	31	5.058435	0.93846	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.56	5.56	0.83823	.	0.142143	0.64402	D	0.000006	T	0.69223	0.3087	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D;D;D;P	0.76494	0.971;0.968;0.971;0.981;0.99;0.971;0.999;0.868	P;P;P;P;P;P;D;B	0.83275	0.775;0.772;0.716;0.851;0.851;0.716;0.996;0.443	T	0.70633	-0.4818	10	0.66056	D	0.02	.	19.4959	0.95072	0.0:0.0:1.0:0.0	.	514;514;232;232;232;232;514;514	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	K	434;514;514;232;514;514;364;435;232;232;232;232;232	ENSP00000365645:E434K;ENSP00000365639:E514K;ENSP00000392625:E514K;ENSP00000365637:E514K;ENSP00000365635:E514K;ENSP00000404798:E364K;ENSP00000389680:E435K;ENSP00000302343:E232K;ENSP00000379722:E232K;ENSP00000365634:E232K;ENSP00000379723:E232K	ENSP00000302343:E232K	E	+	1	0	KIAA1217	24802856	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.040000	0.93783	2.624000	0.88883	0.591000	0.81541	GAG		0.562	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590	
COL17A1	1308	broad.mit.edu	37	10	105819892	105819892	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr10:105819892C>T	ENST00000353479.5	-	14	1416	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T	COL17A1_ENST00000393211.3_Missense_Mutation_p.A376T|COL17A1_ENST00000369733.3_Missense_Mutation_p.A376T	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	376	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.A376T(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCGATGCTGGCAGGGGAGGCT	0.517																																																1	Substitution - Missense(1)	ovary(1)	10											141.0	98.0	113.0					10																	105819892		2203	4300	6503	105809882	SO:0001583	missense	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1126G>A	10.37:g.105819892C>T	ENSP00000340937:p.Ala376Thr		105809882	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020543	0.35606	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872;ENST00000393211	D;D;T	0.91180	-2.8;-2.8;0.65	5.73	2.52	0.30459	.	0.302373	0.23569	N	0.046767	T	0.80297	0.4597	N	0.17872	0.535	0.20873	N	0.99984	B;B	0.12013	0.005;0.003	B;B	0.09377	0.004;0.004	T	0.66540	-0.5898	10	0.32370	T	0.25	-11.7962	6.8602	0.24062	0.0:0.5883:0.0:0.4117	.	376;376	Q9UMD9-2;Q9UMD9	.;COHA1_HUMAN	T	376;376;360;376	ENSP00000340937:A376T;ENSP00000358748:A376T;ENSP00000376905:A376T	ENSP00000340937:A376T	A	-	1	0	COL17A1	105809882	0.923000	0.31300	0.252000	0.24328	0.105000	0.19272	1.589000	0.36644	0.781000	0.33589	0.655000	0.94253	GCC		0.517	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494	
TBC1D4	9882	broad.mit.edu	37	13	75869049	75869049	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr13:75869049G>A	ENST00000377636.3	-	18	3603	c.3257C>T	c.(3256-3258)cCc>cTc	p.P1086L	TBC1D4_ENST00000431480.2_Missense_Mutation_p.P1078L|TBC1D4_ENST00000377625.2_Missense_Mutation_p.P1023L|TBC1D4_ENST00000425511.1_Missense_Mutation_p.P250L|TBC1D4_ENST00000478591.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1086	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.P1086L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GAGGAACCAGGGGGCAGCATA	0.393																																																1	Substitution - Missense(1)	ovary(1)	13											75.0	74.0	75.0					13																	75869049		1924	4175	6099	74767050	SO:0001583	missense	9882			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.3257C>T	13.37:g.75869049G>A	ENSP00000366863:p.Pro1086Leu		74767050	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035570	0.93630	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000425511	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.55	4.71	0.59529	Rab-GAP/TBC domain (4);	0.000000	0.64402	D	0.000001	T	0.63295	0.2499	H	0.95224	3.64	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;0.999;0.998;1.0	T	0.75952	-0.3136	10	0.87932	D	0	-20.9614	14.5921	0.68373	0.0705:0.0:0.9295:0.0	.	250;1023;1078;1086	O60343-4;O60343-2;O60343-3;O60343	.;.;.;TBCD4_HUMAN	L	1086;1078;1023;250	ENSP00000366863:P1086L;ENSP00000395986:P1078L;ENSP00000366852:P1023L;ENSP00000390654:P250L	ENSP00000366852:P1023L	P	-	2	0	TBC1D4	74767050	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.338000	0.96553	1.340000	0.45581	0.563000	0.77884	CCC		0.393	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832	
TEP1	7011	broad.mit.edu	37	14	20864064	20864064	+	Silent	SNP	G	G	A	rs558347552		TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr14:20864064G>A	ENST00000262715.5	-	11	1744	c.1704C>T	c.(1702-1704)aaC>aaT	p.N568N	TEP1_ENST00000556935.1_Silent_p.N460N	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	568	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.N568N(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CATCATGGGCGTTAAGAAATC	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		17664	0.0		0.0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	14											131.0	127.0	129.0					14																	20864064		2203	4300	6503	19933904	SO:0001819	synonymous_variant	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1704C>T	14.37:g.20864064G>A			19933904	A0AUV9	Silent	SNP	ENST00000262715.5	37	CCDS9548.1																																																																																				0.507	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110	
TP53	7157	broad.mit.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr17:7578550G>T	ENST00000269305.4	-	5	569	c.380C>A	c.(379-381)tCc>tAc	p.S127Y	TP53_ENST00000359597.4_Missense_Mutation_p.S127Y|TP53_ENST00000420246.2_Missense_Mutation_p.S127Y|TP53_ENST00000445888.2_Missense_Mutation_p.S127Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.S127Y|TP53_ENST00000413465.2_Missense_Mutation_p.S127Y	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	127	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(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)	GAGGGCAGGGGAGTACTGTAG	0.552		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"""	73	Substitution - Missense(41)|Deletion - In frame(10)|Deletion - Frameshift(9)|Whole gene deletion(8)|Insertion - Frameshift(4)|Unknown(1)	lung(13)|ovary(8)|upper_aerodigestive_tract(7)|large_intestine(6)|central_nervous_system(6)|skin(5)|NS(4)|prostate(4)|bone(4)|urinary_tract(3)|breast(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|oesophagus(2)|biliary_tract(1)|pancreas(1)	17											44.0	44.0	44.0					17																	7578550		2203	4300	6503	7519275	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.380C>A	17.37:g.7578550G>T	ENSP00000269305:p.Ser127Tyr		7519275	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	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276306	0.80580	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99940	-8.39;-8.39;-8.39;-8.39;-8.39;-8.39;-8.39;-8.39;-8.39	5.48	4.51	0.55191	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99933	0.9970	M	0.91038	3.17	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.995;1.0;1.0;1.0	D	0.95614	0.8675	10	0.87932	D	0	-30.2503	12.2742	0.54724	0.0828:0.0:0.9172:0.0	.	88;127;127;34;127;127;127	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	127;127;127;127;127;127;116;34;34;127;127	ENSP00000410739:S127Y;ENSP00000352610:S127Y;ENSP00000269305:S127Y;ENSP00000398846:S127Y;ENSP00000391127:S127Y;ENSP00000391478:S127Y;ENSP00000423862:S34Y;ENSP00000424104:S127Y;ENSP00000426252:S127Y	ENSP00000269305:S127Y	S	-	2	0	TP53	7519275	1.000000	0.71417	0.890000	0.34922	0.931000	0.56810	9.763000	0.98947	1.448000	0.47680	0.655000	0.94253	TCC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MYT1L	23040	broad.mit.edu	37	2	1906916	1906916	+	Silent	SNP	A	A	G	rs527880727		TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr2:1906916A>G	ENST00000399161.2	-	14	2715	c.1968T>C	c.(1966-1968)taT>taC	p.Y656Y	MYT1L_ENST00000428368.2_Silent_p.Y654Y	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	656					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Y656Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTCGCTTGCCATAAGTATGGT	0.483													A|||	1	0.000199681	0.0	0.0014	5008	,	,		17800	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	2											144.0	137.0	139.0					2																	1906916		1928	4128	6056	1885923	SO:0001819	synonymous_variant	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1968T>C	2.37:g.1906916A>G			1885923	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37																																																																																					0.483	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025	
FAM124B	79843	broad.mit.edu	37	2	225266122	225266122	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr2:225266122G>A	ENST00000409685.3	-	1	629	c.364C>T	c.(364-366)Cag>Tag	p.Q122*	FAM124B_ENST00000389874.3_Nonsense_Mutation_p.Q122*|FAM124B_ENST00000243806.2_Nonsense_Mutation_p.Q122*	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	122								p.Q122*(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		ATGGGCAGCTGACTGTCCAGG	0.562																																																1	Substitution - Nonsense(1)	ovary(1)	2											54.0	52.0	53.0					2																	225266122		2203	4300	6503	224974366	SO:0001587	stop_gained	79843			AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.364C>T	2.37:g.225266122G>A	ENSP00000386895:p.Gln122*		224974366	A6NNC7|Q8NBZ4|Q8TAV7	Nonsense_Mutation	SNP	ENST00000409685.3	37	CCDS46527.1	.	.	.	.	.	.	.	.	.	.	G	39	7.645591	0.98409	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	.	.	.	5.79	4.9	0.64082	.	0.348682	0.34555	N	0.003861	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-14.2537	16.8416	0.85971	0.0:0.1286:0.8714:0.0	.	.	.	.	X	122	.	ENSP00000243806:Q122X	Q	-	1	0	FAM124B	224974366	1.000000	0.71417	0.923000	0.36655	0.971000	0.66376	4.565000	0.60836	1.426000	0.47256	0.655000	0.94253	CAG		0.562	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	NM_024785	
PREX1	57580	broad.mit.edu	37	20	47305234	47305234	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr20:47305234C>T	ENST00000371941.3	-	10	1317	c.1295G>A	c.(1294-1296)cGg>cAg	p.R432Q	PREX1_ENST00000396220.1_Missense_Mutation_p.R432Q	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	432	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R432Q(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CAGCTTTCTCCGGCGGTCCTT	0.562																																																1	Substitution - Missense(1)	ovary(1)	20											167.0	119.0	136.0					20																	47305234		2203	4300	6503	46738641	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1295G>A	20.37:g.47305234C>T	ENSP00000361009:p.Arg432Gln		46738641	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.795891	0.90453	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.28895	1.59;1.59	5.29	4.35	0.52113	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.56097	U	0.000034	T	0.45034	0.1322	M	0.75884	2.315	0.51767	D	0.999934	D	0.56287	0.975	P	0.50791	0.65	T	0.51934	-0.8642	10	0.72032	D	0.01	.	13.8488	0.63483	0.0:0.9265:0.0:0.0735	.	432	Q8TCU6	PREX1_HUMAN	Q	432	ENSP00000361009:R432Q;ENSP00000379522:R432Q	ENSP00000361009:R432Q	R	-	2	0	PREX1	46738641	0.965000	0.33210	0.619000	0.29118	0.996000	0.88848	3.822000	0.55708	1.229000	0.43630	0.563000	0.77884	CGG		0.562	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
SNRK	54861	broad.mit.edu	37	3	43389239	43389239	+	Silent	SNP	C	C	T	rs2036617	byFrequency	TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr3:43389239C>T	ENST00000296088.7	+	7	1792	c.1488C>T	c.(1486-1488)gaC>gaT	p.D496D	SNRK_ENST00000437827.1_Silent_p.D290D|SNRK-AS1_ENST00000422681.1_RNA|SNRK_ENST00000454177.1_Silent_p.D496D|SNRK_ENST00000429705.2_Silent_p.D496D|RP11-188P20.3_ENST00000607513.1_RNA	NM_017719.4	NP_060189.3			SNF related kinase									p.D496D(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GGGAATCTGACGATGAGTTTG	0.507													T|||	130	0.0259585	0.0915	0.013	5008	,	,		20155	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	3						T	,	322,3734		22,278,1728	112.0	119.0	117.0		1488,1488	-3.3	0.2	3	dbSNP_94	117	8,8356		0,8,4174	no	coding-synonymous,coding-synonymous	SNRK	NM_001100594.1,NM_017719.4	,	22,286,5902	TT,TC,CC		0.0956,7.9389,2.657	,	496/766,496/766	43389239	330,12090	2028	4182	6210	43364243	SO:0001819	synonymous_variant	54861			D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.1488C>T	3.37:g.43389239C>T			43364243		Silent	SNP	ENST00000296088.7	37	CCDS43075.1																																																																																				0.507	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719	
MON1A	84315	broad.mit.edu	37	3	49949408	49949408	+	Missense_Mutation	SNP	C	C	T	rs370838633		TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr3:49949408C>T	ENST00000417270.1	-	4	881	c.188G>A	c.(187-189)cGt>cAt	p.R63H	MON1A_ENST00000483022.1_5'UTR|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.R152H|MON1A_ENST00000455683.2_Intron			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	55								p.R55H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTCGTAGGAACGGGCATGGAC	0.627																																																1	Substitution - Missense(1)	ovary(1)	3											48.0	49.0	49.0					3																	49949408		2203	4300	6503	49924412	SO:0001583	missense	84315			AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"""MON1 homolog A (yeast)"""			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.188G>A	3.37:g.49949408C>T	ENSP00000399613:p.Arg63His		49924412	B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Missense_Mutation	SNP	ENST00000417270.1	37		.	.	.	.	.	.	.	.	.	.	C	13.91	2.378855	0.42207	.	.	ENSG00000164077	ENST00000296473;ENST00000417270	.	.	.	5.0	3.22	0.36961	.	0.300830	0.40144	N	0.001173	T	0.31979	0.0814	L	0.34521	1.04	0.30256	N	0.793598	B	0.13145	0.007	B	0.06405	0.002	T	0.21042	-1.0257	8	.	.	.	-0.9152	7.9292	0.29893	0.0:0.6847:0.0:0.3153	.	55	Q86VX9	MON1A_HUMAN	H	152;63	.	.	R	-	2	0	MON1A	49924412	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	1.343000	0.33930	0.524000	0.28502	-0.254000	0.11334	CGT		0.627	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000345538.2	NM_032355	
SUCNR1	56670	broad.mit.edu	37	3	151599309	151599309	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr3:151599309A>T	ENST00000362032.5	+	3	1083	c.978A>T	c.(976-978)gaA>gaT	p.E326D	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	326						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E326D(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GGGCTCATGAACTCCTACTTT	0.403																																																1	Substitution - Missense(1)	ovary(1)	3											69.0	70.0	70.0					3																	151599309		2203	4300	6503	153081999	SO:0001583	missense	56670			AF348078	CCDS3162.1	3q25.1	2012-08-21	2004-07-08	2004-07-09	ENSG00000198829	ENSG00000198829		"""GPCR / Class A : Orphans"""	4542	protein-coding gene	gene with protein product		606381	"""G protein-coupled receptor 91"""	GPR91		11273702, 15141213, 17192395	Standard	NM_033050		Approved		uc003ezf.2	Q9BXA5	OTTHUMG00000159880	ENST00000362032.5:c.978A>T	3.37:g.151599309A>T	ENSP00000355156:p.Glu326Asp		153081999	A8K305|Q8TDQ8	Missense_Mutation	SNP	ENST00000362032.5	37	CCDS3162.1	.	.	.	.	.	.	.	.	.	.	A	7.852	0.724127	0.15439	.	.	ENSG00000198829	ENST00000362032	T	0.61040	0.14	4.41	0.47	0.16747	.	4.714200	0.01554	U	0.019799	T	0.34193	0.0889	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.12156	0.007	T	0.16247	-1.0409	10	0.12430	T	0.62	.	4.9038	0.13788	0.7022:0.0:0.1611:0.1367	.	326	Q9BXA5	SUCR1_HUMAN	D	326	ENSP00000355156:E326D	ENSP00000355156:E326D	E	+	3	2	SUCNR1	153081999	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.369000	0.20416	0.002000	0.14630	-0.361000	0.07541	GAA		0.403	SUCNR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357897.2	NM_033050	
HSD17B11	51170	broad.mit.edu	37	4	88261739	88261739	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr4:88261739G>A	ENST00000358290.4	-	6	1030	c.715C>T	c.(715-717)Cct>Tct	p.P239S	HSD17B11_ENST00000507286.1_Missense_Mutation_p.P195S|RP11-529H2.2_ENST00000508163.1_RNA|HSD17B11_ENST00000507518.1_5'UTR	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	239					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)	p.P239S(1)		cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		ACTTCCTCAGGTTCCAGAGTG	0.408																																																1	Substitution - Missense(1)	ovary(1)	4											88.0	90.0	89.0					4																	88261739		2203	4300	6503	88480763	SO:0001583	missense	51170			AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	22960	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 2"", ""short chain dehydrogenase/reductase family 16C, member 2"""	612831	"""dehydrogenase/reductase (SDR family) member 8"""	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.715C>T	4.37:g.88261739G>A	ENSP00000351035:p.Pro239Ser		88480763	Q96HF6|Q9UKU4	Missense_Mutation	SNP	ENST00000358290.4	37	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788461	0.31685	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	D;T	0.92299	-3.01;0.26	5.64	5.64	0.86602	NAD(P)-binding domain (1);	0.157960	0.44097	D	0.000489	D	0.93543	0.7939	M	0.88570	2.965	0.47659	D	0.99948	P	0.37176	0.586	B	0.38194	0.267	D	0.93794	0.7095	10	0.54805	T	0.06	.	16.6324	0.85037	0.0:0.0:1.0:0.0	.	239	Q8NBQ5	DHB11_HUMAN	S	239;195	ENSP00000351035:P239S;ENSP00000423775:P195S	ENSP00000351035:P239S	P	-	1	0	HSD17B11	88480763	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	2.517000	0.45529	2.658000	0.90341	0.655000	0.94253	CCT		0.408	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	NM_016245	
C7	730	broad.mit.edu	37	5	40976882	40976882	+	Missense_Mutation	SNP	G	G	A	rs201976045		TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr5:40976882G>A	ENST00000313164.9	+	16	2464	c.2105G>A	c.(2104-2106)tGt>tAt	p.C702Y	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	702	Factor I module (FIM) 1.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.C702Y(1)					Ovarian(839;0.0112)				GTGCCTAAATGTCAGCGCTGG	0.393																																																1	Substitution - Missense(1)	ovary(1)	5						G	TYR/CYS	0,3928		0,0,1964	85.0	88.0	87.0		2105	4.9	1.0	5		87	2,8300		0,2,4149	no	missense	C7	NM_000587.2	194	0,2,6113	AA,AG,GG		0.0241,0.0,0.0164	probably-damaging	702/844	40976882	2,12228	1964	4151	6115	41012639	SO:0001583	missense	730			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2105G>A	5.37:g.40976882G>A	ENSP00000322061:p.Cys702Tyr		41012639	Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164934	0.78339	0.0	2.41E-4	ENSG00000112936	ENST00000313164	T	0.66995	-0.24	4.88	4.88	0.63580	Factor I / membrane attack complex (1);	0.000000	0.85682	D	0.000000	D	0.84356	0.5454	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87347	0.2335	10	0.87932	D	0	-18.1741	17.822	0.88653	0.0:0.0:1.0:0.0	.	702	P10643	CO7_HUMAN	Y	702	ENSP00000322061:C702Y	ENSP00000322061:C702Y	C	+	2	0	C7	41012639	1.000000	0.71417	0.996000	0.52242	0.925000	0.55904	4.659000	0.61504	2.531000	0.85337	0.591000	0.81541	TGT		0.393	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1		
PCDHA4	56144	broad.mit.edu	37	5	140188264	140188264	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr5:140188264C>T	ENST00000530339.1	+	1	1492	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W	PCDHA4_ENST00000356878.4_Missense_Mutation_p.R498W|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R498W	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	498	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R498W(1)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTAGAGCGGCGGGTAGGGGA	0.662																																																1	Substitution - Missense(1)	ovary(1)	5											55.0	59.0	58.0					5																	140188264		2202	4300	6502	140168448	SO:0001583	missense	56144			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1492C>T	5.37:g.140188264C>T	ENSP00000435300:p.Arg498Trp		140168448	O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	11.05	1.526057	0.27299	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.52526	0.66;0.66;0.66	4.18	3.29	0.37713	Cadherin (4);Cadherin-like (1);	0.279853	0.19043	U	0.124233	T	0.35219	0.0924	L	0.39898	1.24	0.23243	N	0.998052	P;B;P	0.40250	0.709;0.282;0.639	B;B;B	0.37047	0.236;0.24;0.149	T	0.23013	-1.0200	10	0.62326	D	0.03	.	7.3112	0.26475	0.1683:0.7435:0.0:0.0882	.	498;498;498	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	W	498	ENSP00000423470:R498W;ENSP00000349344:R498W;ENSP00000435300:R498W	ENSP00000349344:R498W	R	+	1	2	PCDHA4	140168448	0.000000	0.05858	1.000000	0.80357	0.410000	0.31052	-0.461000	0.06712	0.871000	0.35750	0.580000	0.79431	CGG		0.662	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907	
GRM6	2916	broad.mit.edu	37	5	178413884	178413884	+	Silent	SNP	G	G	A	rs149519053		TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr5:178413884G>A	ENST00000517717.1	-	8	1493	c.1455C>T	c.(1453-1455)ggC>ggT	p.G485G	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.G485G			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	485					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)	p.G485G(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCTGGTACCCGCCACTGCTGG	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17044	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	5						G		0,4406		0,0,2203	68.0	56.0	60.0		1455	-2.6	1.0	5	dbSNP_134	60	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous	GRM6	NM_000843.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		485/878	178413884	2,13004	2203	4300	6503	178346490	SO:0001819	synonymous_variant	2916			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1455C>T	5.37:g.178413884G>A			178346490		Silent	SNP	ENST00000517717.1	37	CCDS4442.1																																																																																				0.647	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2		
HECW1	23072	broad.mit.edu	37	7	43590137	43590137	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr7:43590137G>A	ENST00000395891.2	+	27	4947	c.4342G>A	c.(4342-4344)Gtg>Atg	p.V1448M	HECW1_ENST00000453890.1_Missense_Mutation_p.V1414M	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1448	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.V1427M(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GAAGTGGCGGGTGGAGCGCGG	0.622																																																1	Substitution - Missense(1)	ovary(1)	7											65.0	74.0	71.0					7																	43590137		2182	4286	6468	43556662	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4342G>A	7.37:g.43590137G>A	ENSP00000379228:p.Val1448Met		43556662	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	33	5.223683	0.95139	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.57907	0.37;0.37	5.62	5.62	0.85841	HECT (4);	0.000000	0.85682	D	0.000000	T	0.60090	0.2242	N	0.13235	0.315	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.979	T	0.66732	-0.5849	10	0.72032	D	0.01	.	19.6632	0.95882	0.0:0.0:1.0:0.0	.	1414;1448	B4DH42;Q76N89	.;HECW1_HUMAN	M	1448;1414;1448	ENSP00000379228:V1448M;ENSP00000407774:V1414M	ENSP00000265522:V1448M	V	+	1	0	HECW1	43556662	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	9.476000	0.97823	2.625000	0.88918	0.655000	0.94253	GTG		0.622	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
SHROOM2	357	broad.mit.edu	37	X	9900829	9900829	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chrX:9900829C>T	ENST00000380913.3	+	6	3596	c.3506C>T	c.(3505-3507)tCg>tTg	p.S1169L	SHROOM2_ENST00000418909.2_Missense_Mutation_p.S4L|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1169					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)	p.S1169L(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				ATGGAGACCTCGCGCTCCCCC	0.642																																																1	Substitution - Missense(1)	ovary(1)	X											43.0	41.0	42.0					X																	9900829		2203	4299	6502	9860829	SO:0001583	missense	357			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3506C>T	X.37:g.9900829C>T	ENSP00000370299:p.Ser1169Leu		9860829	B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258090	0.59321	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.48201	2.34;1.42;0.82	4.66	4.66	0.58398	.	0.958291	0.08729	N	0.902332	T	0.64853	0.2636	L	0.52573	1.65	0.29890	N	0.82528	P;D	0.89917	0.875;1.0	B;D	0.63381	0.138;0.914	T	0.62129	-0.6919	10	0.72032	D	0.01	-15.2887	16.9974	0.86371	0.0:1.0:0.0:0.0	.	4;1169	Q68DU3;Q13796	.;SHRM2_HUMAN	L	1169;4;4;4	ENSP00000370299:S1169L;ENSP00000415229:S4L;ENSP00000406724:S4L	ENSP00000370299:S1169L	S	+	2	0	SHROOM2	9860829	0.997000	0.39634	0.904000	0.35570	0.481000	0.33189	3.043000	0.49823	1.931000	0.55961	0.523000	0.50628	TCG		0.642	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649	
FAM47A	158724	broad.mit.edu	37	X	34148259	34148259	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chrX:34148259G>T	ENST00000346193.3	-	1	2188	c.2137C>A	c.(2137-2139)Cct>Act	p.P713T		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	713								p.P713T(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCAATCAAAGGTTCATCACTT	0.423																																																1	Substitution - Missense(1)	ovary(1)	X											106.0	102.0	104.0					X																	34148259		2202	4300	6502	34058180	SO:0001583	missense	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2137C>A	X.37:g.34148259G>T	ENSP00000345029:p.Pro713Thr		34058180	A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876163	0.51801	.	.	ENSG00000185448	ENST00000346193	T	0.19105	2.17	1.17	0.18	0.15068	.	.	.	.	.	T	0.21103	0.0508	M	0.66439	2.03	0.23598	N	0.997326	B	0.20988	0.05	B	0.26310	0.068	T	0.34354	-0.9832	9	0.62326	D	0.03	.	4.0743	0.09897	0.0:0.0:0.5953:0.4047	.	713	Q5JRC9	FA47A_HUMAN	T	713	ENSP00000345029:P713T	ENSP00000345029:P713T	P	-	1	0	FAM47A	34058180	0.050000	0.20438	0.943000	0.38184	0.938000	0.57974	0.340000	0.19892	-0.002000	0.14469	0.544000	0.68410	CCT		0.423	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408	
AWAT1	158833	broad.mit.edu	37	X	69460020	69460020	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chrX:69460020G>T	ENST00000374521.3	+	7	908	c.867G>T	c.(865-867)aaG>aaT	p.K289N		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	289					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)	p.K369N(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						AAATTGAAAAGCCAAGCCAGG	0.502																																																1	Substitution - Missense(1)	ovary(1)	X											74.0	60.0	65.0					X																	69460020		2203	4300	6503	69376745	SO:0001583	missense	158833			BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"""diacylglycerol O-acyltransferase 2-like 3"""	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.867G>T	X.37:g.69460020G>T	ENSP00000363645:p.Lys289Asn		69376745	Q5JT21|Q6IEE4	Missense_Mutation	SNP	ENST00000374521.3	37	CCDS35321.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.043893	0.00398	.	.	ENSG00000204195	ENST00000374521	T	0.13778	2.56	5.39	-10.8	0.00216	.	0.796497	0.11912	N	0.517509	T	0.02083	0.0065	N	0.01505	-0.83	0.09310	N	0.999996	B	0.06786	0.001	B	0.12156	0.007	T	0.30297	-0.9983	10	0.02654	T	1	0.4212	1.5712	0.02616	0.1892:0.3039:0.2627:0.2442	.	289	Q58HT5	AWAT1_HUMAN	N	289	ENSP00000363645:K289N	ENSP00000363645:K289N	K	+	3	2	AWAT1	69376745	0.000000	0.05858	0.130000	0.21974	0.689000	0.40095	-5.995000	0.00086	-3.453000	0.00160	-1.293000	0.01348	AAG		0.502	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057066.3	NM_001013579	
SASH3	54440	broad.mit.edu	37	X	128926972	128926972	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chrX:128926972C>T	ENST00000356892.3	+	7	923	c.809C>T	c.(808-810)aCa>aTa	p.T270I	RP4-753P9.3_ENST00000432513.1_RNA	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	270	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T270I(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						CAGGAGCACACATCCACCCTC	0.567																																																1	Substitution - Missense(1)	ovary(1)	X											100.0	75.0	83.0					X																	128926972		2203	4300	6503	128754653	SO:0001583	missense	54440			BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	15975	protein-coding gene	gene with protein product		300441	"""chromosome X open reading frame 9"""	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.809C>T	X.37:g.128926972C>T	ENSP00000349359:p.Thr270Ile		128754653	A6NCH1|A8K7K8|Q5JZ38	Missense_Mutation	SNP	ENST00000356892.3	37	CCDS14614.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675204	0.29783	.	.	ENSG00000122122	ENST00000443760;ENST00000356892	D	0.85861	-2.04	5.66	4.78	0.61160	Src homology-3 domain (1);Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.246302	0.48767	D	0.000169	T	0.72145	0.3424	N	0.16066	0.365	0.42178	D	0.991678	B;B	0.22983	0.078;0.003	B;B	0.24848	0.056;0.003	T	0.65438	-0.6168	10	0.30854	T	0.27	-23.3621	8.9436	0.35745	0.0:0.7731:0.1465:0.0804	.	288;270	B4DKQ0;O75995	.;SASH3_HUMAN	I	288;270	ENSP00000349359:T270I	ENSP00000349359:T270I	T	+	2	0	SASH3	128754653	0.576000	0.26700	0.879000	0.34478	0.703000	0.40648	1.033000	0.30191	1.121000	0.41925	0.529000	0.55759	ACA		0.567	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058208.1	NM_018990	
ZNF185	7739	broad.mit.edu	37	X	152113972	152113972	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chrX:152113972C>A	ENST00000370268.4	+	16	1407	c.1370C>A	c.(1369-1371)tCt>tAt	p.S457Y	ZNF185_ENST00000370270.2_Missense_Mutation_p.S489Y|ZNF185_ENST00000318504.7_Missense_Mutation_p.S398Y|ZNF185_ENST00000449285.2_Missense_Mutation_p.S458Y|ZNF185_ENST00000324823.6_Missense_Mutation_p.S225Y|ZNF185_ENST00000535861.1_Missense_Mutation_p.S489Y|ZNF185_ENST00000318529.8_Missense_Mutation_p.S236Y|ZNF185_ENST00000454925.1_Missense_Mutation_p.S95Y|ZNF185_ENST00000539731.1_Missense_Mutation_p.S460Y			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	457						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.S220Y(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGCGGATCTGAGCAACTT	0.617																																																1	Substitution - Missense(1)	ovary(1)	X											29.0	33.0	32.0					X																	152113972		2057	4182	6239	151864628	SO:0001583	missense	7739			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.1370C>A	X.37:g.152113972C>A	ENSP00000359291:p.Ser457Tyr		151864628	A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	ENST00000370268.4	37	CCDS48184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.949|8.949	0.967738|0.967738	0.18659|0.18659	.|.	.|.	ENSG00000147394|ENSG00000147394	ENST00000454925|ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000324823;ENST00000433245;ENST00000370268;ENST00000318529;ENST00000370270;ENST00000436731	.|T;T;T;T;T	.|0.45276	.|0.91;0.91;0.9;0.9;0.9	2.54|2.54	0.633|0.633	0.17712|0.17712	.|.	.|0.527178	.|0.13972	.|U	.|0.350080	T|T	0.20659|0.20659	0.0497|0.0497	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|P;P;P;P;P;P;P;P;P	.|0.51791	.|0.736;0.478;0.521;0.948;0.948;0.907;0.868;0.948;0.478	.|B;B;B;B;B;B;B;B;B	.|0.43413	.|0.187;0.134;0.126;0.321;0.243;0.243;0.419;0.346;0.101	T|T	0.10776|0.10776	-1.0615|-1.0615	5|10	.|0.62326	.|D	.|0.03	.|.	3.7229|3.7229	0.08463|0.08463	0.0:0.5895:0.2501:0.1604|0.0:0.5895:0.2501:0.1604	.|.	.|458;398;428;460;489;457;95;236;220	.|O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231;Q8N1R8;F8W8V7;O15231-2	.|.;.;.;.;.;ZN185_HUMAN;.;.;.	M|Y	98|489;460;458;398;292;225;323;457;236;220;162	.|ENSP00000440847:S489Y;ENSP00000444367:S460Y;ENSP00000395228:S458Y;ENSP00000312782:S398Y;ENSP00000359291:S457Y	.|ENSP00000312782:S398Y	L|S	+|+	1|2	2|0	ZNF185|ZNF185	151864628|151864628	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.082000|0.082000	0.14847|0.14847	0.056000|0.056000	0.16144|0.16144	-0.530000|-0.530000	0.04314|0.04314	CTG|TCT		0.617	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150	
