#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
H6PD	9563	broad.mit.edu	37	1	9324830	9324830	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:9324830C>T	ENST00000377403.2	+	5	2580	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	H6PD_ENST00000602477.1_Missense_Mutation_p.R771W	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	760	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		GCTGGTGAGCCGGGTGGGCCA	0.637																																						uc001apt.2		NaN																	0					0						c.(2278-2280)CGG>TGG		hexose-6-phosphate dehydrogenase precursor	NADH(DB00157)						29.0	28.0	28.0					1																	9324830		2203	4295	6498	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9324830C>T	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.2278C>T	1.37:g.9324830C>T	ENSP00000366620:p.Arg760Trp						p.R760W	NM_004285	NP_004276	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	2551	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	760			6-phosphogluconolactonase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.2278C>T	CCDS101.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.519824	0.64634	.	.	ENSG00000049239	ENST00000377403	D	0.98381	-4.9	5.45	5.45	0.79879	6-phosphogluconolactonase, DevB-type (1);	0.000000	0.85682	D	0.000000	D	0.98604	0.9533	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.99218	1.0878	10	0.87932	D	0	-21.4816	13.8354	0.63406	0.1628:0.8372:0.0:0.0	.	760	O95479	G6PE_HUMAN	W	760	ENSP00000366620:R760W	ENSP00000366620:R760W	R	+	1	2	H6PD	9247417	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	2.925000	0.48884	2.564000	0.86499	0.561000	0.74099	CGG		0.637	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2		NM_004285		12	30	0	0	0	0.010729	0	12	30		
ATP13A2	23400	broad.mit.edu	37	1	17313397	17313397	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:17313397C>G	ENST00000326735.8	-	27	3171	c.3138G>C	c.(3136-3138)gaG>gaC	p.E1046D	ATP13A2_ENST00000452699.1_Missense_Mutation_p.E1041D|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.E1002D			Q9NQ11	AT132_HUMAN	ATPase type 13A2	1046					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CCACGGTGTTCTCGTAGTTGG	0.627																																						uc001baa.2		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(3136-3138)GAG>GAC		ATPase type 13A2 isoform 1							96.0	80.0	86.0					1																	17313397		2203	4300	6503	SO:0001583	missense	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17313397C>G	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.3138G>C	1.37:g.17313397C>G	ENSP00000327214:p.Glu1046Asp					ATP13A2_uc001azz.1_Missense_Mutation_p.E193D|ATP13A2_uc001bab.2_Missense_Mutation_p.E1041D|ATP13A2_uc001bac.2_Missense_Mutation_p.E1002D	p.E1046D	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	27	3328	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	1046			Extracellular (Potential).		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	c.3138G>C	CCDS175.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.785117	0.49997	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000502418	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	5.35	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.73690	0.3619	L	0.50333	1.59	0.42066	D	0.991186	P;D;D	0.89917	0.942;1.0;0.989	P;D;P	0.80764	0.613;0.994;0.814	T	0.70923	-0.4740	10	0.29301	T	0.29	-32.8644	9.9832	0.41826	0.0:0.9058:0.0:0.0942	.	1002;1041;1046	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	D	1046;1002;1041;242	ENSP00000327214:E1046D;ENSP00000341115:E1002D;ENSP00000413307:E1041D;ENSP00000423065:E242D	ENSP00000327214:E1046D	E	-	3	2	ATP13A2	17185984	1.000000	0.71417	0.998000	0.56505	0.006000	0.05464	4.342000	0.59341	1.260000	0.44134	-0.142000	0.14014	GAG		0.627	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1		NM_022089		7	27	0	0	0	0.00308	0	7	27		
HSPG2	3339	broad.mit.edu	37	1	22176612	22176612	+	Silent	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:22176612C>G	ENST00000374695.3	-	57	7447	c.7368G>C	c.(7366-7368)ctG>ctC	p.L2456L	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2456	Ig-like C2-type 10.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CGAGGCAGTTCAGGTCCAGGG	0.662																																						uc001bfj.2		NaN																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(7366-7368)CTG>CTC		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						66.0	72.0	70.0					1																	22176612		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22176612C>G	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7368G>C	1.37:g.22176612C>G						HSPG2_uc009vqd.2_Silent_p.L2457L	p.L2456L	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	57	7408	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2456			Ig-like C2-type 10.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.7368G>C	CCDS30625.1																																																																																				0.662	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1		NM_005529		38	86	0	0	0	0.00623	0	38	86		
KDM1A	23028	broad.mit.edu	37	1	23382467	23382467	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:23382467C>G	ENST00000356634.3	+	6	1015	c.866C>G	c.(865-867)tCa>tGa	p.S289*	KDM1A_ENST00000542151.1_Nonsense_Mutation_p.S309*|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000400181.4_Nonsense_Mutation_p.S309*|MIR4419A_ENST00000583845.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	289					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCTGGGGTCTCAGGCTTGGCA	0.358																																						uc001bgi.2		NaN																	0				ovary(1)|lung(1)	2						c.(865-867)TCA>TGA		lysine-specific histone demethylase 1 isoform b							108.0	115.0	112.0					1																	23382467		2203	4300	6503	SO:0001587	stop_gained	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23382467C>G	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.866C>G	1.37:g.23382467C>G	ENSP00000349049:p.Ser289*					KDM1A_uc001bgj.2_Nonsense_Mutation_p.S309*	p.S289*	NM_015013	NP_055828	O60341	KDM1A_HUMAN			6	1015	+			289			FAD (Potential).	FAD.	A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Nonsense_Mutation	SNP	ENST00000356634.3	37	c.866C>G	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	C	37	6.630882	0.97718	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.0123	19.5289	0.95219	0.0:1.0:0.0:0.0	.	.	.	.	X	289;309;309	.	ENSP00000349049:S289X	S	+	2	0	KDM1A	23255054	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	7.628000	0.83189	2.865000	0.98341	0.655000	0.94253	TCA		0.358	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3		NM_015013		44	169	0	0	0	0.01441	0	44	169		
MYOM3	127294	broad.mit.edu	37	1	24392393	24392393	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:24392393G>A	ENST00000374434.3	-	29	3684	c.3522C>T	c.(3520-3522)ctC>ctT	p.L1174L	MYOM3_ENST00000338909.5_Silent_p.L67L|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000330966.7_Silent_p.L1177L|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Silent_p.L1176L	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1174	Ig-like C2-type 3.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTTCAATGCAGAGAAGTCCCG	0.572																																						uc001bin.3		NaN																	0				skin(2)|ovary(1)	3						c.(3520-3522)CTC>CTT		myomesin family, member 3							130.0	130.0	130.0					1																	24392393		1950	4147	6097	SO:0001819	synonymous_variant	127294							g.chr1:24392393G>A	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3522C>T	1.37:g.24392393G>A						MYOM3_uc001bil.3_Silent_p.L67L|MYOM3_uc001bim.3_Silent_p.L831L|MYOM3_uc001bio.2_Silent_p.L1174L	p.L1174L	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	29	3685	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1174			Ig-like C2-type 3.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	c.3522C>T	CCDS41281.1																																																																																				0.572	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2		NM_152372		55	138	0	0	0	0.01441	0	55	138		
ARID1A	8289	broad.mit.edu	37	1	27058057	27058057	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:27058057C>T	ENST00000324856.7	+	3	2136	c.1765C>T	c.(1765-1767)Caa>Taa	p.Q589*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q589*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q206*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	589					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGTCCCAGCAAACTGCCTA	0.607			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(1765-1767)CAA>TAA		AT rich interactive domain 1A isoform a							129.0	125.0	127.0					1																	27058057		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27058057C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1765C>T	1.37:g.27058057C>T	ENSP00000320485:p.Gln589*					ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q589*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q589*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q206*	p.Q589*	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	3	2138	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	589					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.1765C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	37	6.233905	0.97399	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.19	5.19	0.71726	.	0.071281	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-4.7343	17.873	0.88816	0.0:1.0:0.0:0.0	.	.	.	.	X	589;589;206	.	ENSP00000320485:Q589X	Q	+	1	0	ARID1A	26930644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.788000	0.55446	2.690000	0.91761	0.563000	0.77884	CAA		0.607	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		81	91	0	0	0	0.01441	0	81	91		
MACF1	23499	broad.mit.edu	37	1	39888185	39888185	+	Missense_Mutation	SNP	G	G	A	rs148666575	byFrequency	TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:39888185G>A	ENST00000372915.3	+	58	16058	c.15971G>A	c.(15970-15972)cGa>cAa	p.R5324Q	MACF1_ENST00000317713.7_Missense_Mutation_p.R3257Q|MACF1_ENST00000567887.1_Missense_Mutation_p.R5356Q|MACF1_ENST00000539005.1_Missense_Mutation_p.R3236Q|MACF1_ENST00000545844.1_Missense_Mutation_p.R3257Q|MACF1_ENST00000289893.4_Missense_Mutation_p.R3759Q|MACF1_ENST00000361689.2_Missense_Mutation_p.R3257Q|MACF1_ENST00000564288.1_Missense_Mutation_p.R5319Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5324					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATCAATGCTCGATGGAATACA	0.428																																						uc010oiu.1		NaN																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(11275-11277)CGA>CAA		microfilament and actin filament cross-linker		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	99.0	93.0	95.0		9770,11276	5.9	1.0	1	dbSNP_134	95	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	MACF1	NM_012090.4,NM_033044.3	43,43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	3257/5431,3759/5939	39888185	2,13004	2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39888185G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15971G>A	1.37:g.39888185G>A	ENSP00000362006:p.Arg5324Gln					MACF1_uc010ois.1_Missense_Mutation_p.R3257Q|MACF1_uc001cda.1_Missense_Mutation_p.R3144Q|MACF1_uc001cdc.1_Missense_Mutation_p.R2323Q	p.R3759Q	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		23	11407	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5324			Spectrin 6.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.11276G>A		.	.	.	.	.	.	.	.	.	.	G	19.83	3.900700	0.72754	0.0	2.33E-4	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035	T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.95	5.95	0.96441	.	0.000000	0.51477	D	0.000094	T	0.55800	0.1943	L	0.60904	1.88	0.80722	D	1	P;D;D	0.63046	0.898;0.971;0.992	B;P;P	0.54815	0.27;0.674;0.761	T	0.47923	-0.9079	10	0.25106	T	0.35	.	13.5654	0.61815	0.0708:0.0:0.9292:0.0	.	5324;3257;3201	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	Q	3257;5324;3257;3257;3236;3759;73	ENSP00000439537:R3257Q;ENSP00000362006:R5324Q;ENSP00000354573:R3257Q;ENSP00000313438:R3257Q;ENSP00000444364:R3236Q;ENSP00000289893:R3759Q;ENSP00000433104:R73Q	ENSP00000289893:R3759Q	R	+	2	0	MACF1	39660772	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.241000	0.58707	2.821000	0.97095	0.650000	0.86243	CGA		0.428	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		21	50	0	0	0	0.014323	0	21	50		
MACF1	23499	broad.mit.edu	37	1	39889764	39889764	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:39889764G>C	ENST00000372915.3	+	60	16316	c.16229G>C	c.(16228-16230)aGa>aCa	p.R5410T	MACF1_ENST00000317713.7_Missense_Mutation_p.R3343T|MACF1_ENST00000567887.1_Missense_Mutation_p.R5442T|MACF1_ENST00000539005.1_Missense_Mutation_p.R3322T|MACF1_ENST00000545844.1_Missense_Mutation_p.R3343T|MACF1_ENST00000289893.4_Missense_Mutation_p.R3845T|MACF1_ENST00000361689.2_Missense_Mutation_p.R3343T|MACF1_ENST00000564288.1_Missense_Mutation_p.R5405T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5410					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAGGAGGCAGAATAGCCCAG	0.473																																						uc010oiu.1		NaN																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(11533-11535)AGA>ACA		microfilament and actin filament cross-linker							86.0	86.0	86.0					1																	39889764		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39889764G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16229G>C	1.37:g.39889764G>C	ENSP00000362006:p.Arg5410Thr					MACF1_uc010ois.1_Missense_Mutation_p.R3343T|MACF1_uc001cda.1_Missense_Mutation_p.R3230T|MACF1_uc001cdc.1_Missense_Mutation_p.R2409T	p.R3845T	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		25	11665	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5410			Spectrin 7.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.11534G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.473687|4.473687	0.84640|0.84640	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035	.|T;T;T;T;T;T;T	.|0.51325	.|0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.000000	.|0.64402	.|D	.|0.000008	T|T	0.65933|0.65933	0.2739|0.2739	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.992;0.983	.|D;D;P	.|0.85130	.|0.997;0.939;0.879	T|T	0.59616|0.59616	-0.7421|-0.7421	5|10	.|0.26408	.|T	.|0.33	.|.	19.3488|19.3488	0.94376|0.94376	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|5410;3343;3287	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	H|T	2455|3343;5410;3343;3343;3322;3845;159	.|ENSP00000439537:R3343T;ENSP00000362006:R5410T;ENSP00000354573:R3343T;ENSP00000313438:R3343T;ENSP00000444364:R3322T;ENSP00000289893:R3845T;ENSP00000433104:R159T	.|ENSP00000289893:R3845T	Q|R	+|+	3|2	2|0	MACF1|MACF1	39662351|39662351	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.746000|4.746000	0.62133|0.62133	2.569000|2.569000	0.86673|0.86673	0.655000|0.655000	0.94253|0.94253	CAG|AGA		0.473	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		15	63	0	0	0	0.004007	0	15	63		
CLDN19	149461	broad.mit.edu	37	1	43205572	43205572	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:43205572C>T	ENST00000296387.1	-	1	353	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	CLDN19_ENST00000372539.3_Missense_Mutation_p.A55T|CLDN19_ENST00000539749.1_Missense_Mutation_p.A55T	NM_001123395.1|NM_148960.2	NP_001116867.1|NP_683763.2	Q8N6F1	CLD19_HUMAN	claudin 19	55					apical junction assembly (GO:0043297)|calcium-independent cell-cell adhesion (GO:0016338)|neuronal action potential propagation (GO:0019227)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	apical junction complex (GO:0043296)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCTGGGAGGCGCAGGACATC	0.647																																						uc001cht.1		NaN																	0					0						c.(163-165)GCC>ACC		claudin 19 isoform a							39.0	31.0	34.0					1																	43205572		2203	4300	6503	SO:0001583	missense	149461				calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding	g.chr1:43205572C>T	AK096063	CCDS471.1, CCDS44125.1, CCDS53306.1	1p34.2	2008-05-14			ENSG00000164007	ENSG00000164007		"""Claudins"""	2040	protein-coding gene	gene with protein product		610036					Standard	NM_148960		Approved		uc001cht.1	Q8N6F1	OTTHUMG00000007524	ENST00000296387.1:c.163G>A	1.37:g.43205572C>T	ENSP00000296387:p.Ala55Thr					CLDN19_uc001chu.2_Missense_Mutation_p.A55T|CLDN19_uc010ojv.1_Missense_Mutation_p.A55T	p.A55T	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN			1	354	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	55			Extracellular (Potential).		B7Z5I2|F5H5P9|Q5QT57|Q8N8X0	Missense_Mutation	SNP	ENST00000296387.1	37	c.163G>A	CCDS471.1	.	.	.	.	.	.	.	.	.	.	C	35	5.584336	0.96578	.	.	ENSG00000164007	ENST00000296387;ENST00000539749;ENST00000372539	D;D;D	0.87650	-2.28;-2.28;-2.28	4.77	4.77	0.60923	Claudin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90700	0.7082	L	0.48260	1.515	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.74674	0.968;0.957;0.984	D	0.91097	0.4911	10	0.52906	T	0.07	.	15.3071	0.74001	0.0:1.0:0.0:0.0	.	55;55;55	F5H5P9;Q8N6F1-2;Q8N6F1	.;.;CLD19_HUMAN	T	55	ENSP00000296387:A55T;ENSP00000443229:A55T;ENSP00000361617:A55T	ENSP00000296387:A55T	A	-	1	0	CLDN19	42978159	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.055000	0.71103	2.182000	0.69389	0.643000	0.83706	GCC		0.647	CLDN19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019788.1		NM_148960		4	16	0	0	0	0.009096	0	4	16		
ATP6V0B	533	broad.mit.edu	37	1	44441505	44441505	+	Missense_Mutation	SNP	G	G	T	rs201522408		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:44441505G>T	ENST00000472174.2	+	2	494	c.101G>T	c.(100-102)cGc>cTc	p.R34L	ATP6V0B_ENST00000532642.1_Missense_Mutation_p.R34L|ATP6V0B_ENST00000236067.4_Intron|ATP6V0B_ENST00000472277.1_Intron|ATP6V0B_ENST00000471859.2_Intron|ATP6V0B_ENST00000498664.1_5'Flank	NM_004047.3	NP_004038.1	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	34					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TTGGGCTTCCGCTTTGATGTG	0.537																																						uc001cld.2		NaN																	0				breast(1)	1						c.(100-102)CGC>CTC		ATPase, H+ transporting, lysosomal 21kDa, V0							154.0	154.0	154.0					1																	44441505		2203	4300	6503	SO:0001583	missense	533				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity	g.chr1:44441505G>T	BC000423	CCDS505.1, CCDS41315.1, CCDS72772.1	1p32.3	2010-04-21	2006-01-20	2002-05-10	ENSG00000117410	ENSG00000117410		"""ATPases / V-type"""	861	protein-coding gene	gene with protein product		603717	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD"", ""ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''"""	ATP6F		9653649	Standard	XM_005270944		Approved	VMA16, HATPL	uc001cld.3	Q99437	OTTHUMG00000008298	ENST00000472174.2:c.101G>T	1.37:g.44441505G>T	ENSP00000431605:p.Arg34Leu					ATP6V0B_uc001clc.2_Missense_Mutation_p.R34L|ATP6V0B_uc001cle.2_Intron|ATP6V0B_uc001clf.2_5'UTR	p.R34L	NM_004047	NP_004038	Q99437	VATO_HUMAN			2	212	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	34			Cytoplasmic (Potential).		D3DPY5|Q6IB32	Missense_Mutation	SNP	ENST00000472174.2	37	c.101G>T	CCDS505.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589145	0.66105	.	.	ENSG00000117410	ENST00000472174;ENST00000532642	.	.	.	4.89	4.89	0.63831	.	0.062472	0.64402	D	0.000003	T	0.66636	0.2809	M	0.66939	2.045	0.80722	D	1	B;B	0.17268	0.0;0.021	B;B	0.17433	0.002;0.018	T	0.63829	-0.6548	9	0.33141	T	0.24	-9.34	18.0585	0.89370	0.0:0.0:1.0:0.0	.	34;34	Q99437;E9PNL3	VATO_HUMAN;.	L	34	.	ENSP00000431605:R34L	R	+	2	0	ATP6V0B	44214092	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.120000	0.77153	2.266000	0.75297	0.479000	0.44913	CGC		0.537	ATP6V0B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022854.2		NM_004047		77	203	1	0	1.68136e-41	0.01441	1.90984e-41	77	203		
NRD1	4898	broad.mit.edu	37	1	52305975	52305975	+	Missense_Mutation	SNP	C	C	T	rs568345452	byFrequency	TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:52305975C>T	ENST00000354831.7	-	2	742	c.553G>A	c.(553-555)Gat>Aat	p.D185N	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Missense_Mutation_p.D53N|NRD1_ENST00000544028.1_Missense_Mutation_p.D53N|NRD1_ENST00000352171.7_Missense_Mutation_p.D185N	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	0	Asp/Glu-rich (highly acidic).				cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						gtatcaagatcatcatcatgt	0.358																																						uc001ctc.3		NaN																	0					0						c.(553-555)GAT>AAT		nardilysin isoform a							229.0	193.0	205.0					1																	52305975		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52305975C>T	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.553G>A	1.37:g.52305975C>T	ENSP00000346890:p.Asp185Asn					NRD1_uc009vzb.2_5'UTR|NRD1_uc001ctd.3_Missense_Mutation_p.D185N|NRD1_uc001cte.2_Missense_Mutation_p.D53N|NRD1_uc001ctf.2_Missense_Mutation_p.D185N|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Missense_Mutation_p.D53N|NRD1_uc001ctg.1_5'Flank	p.D185N	NM_002525	NP_002516	O43847	NRDC_HUMAN			2	875	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.553G>A	CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604883	0.46423	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.45668	1.39;3.21;0.89;1.42	4.14	4.14	0.48551	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.232106	0.29707	N	0.011411	T	0.39572	0.1083	N	0.08118	0	0.24989	N	0.991546	D;D;D	0.60575	0.988;0.98;0.98	D;D;D	0.73708	0.981;0.956;0.956	T	0.24154	-1.0168	10	0.23302	T	0.38	-3.0891	11.7379	0.51775	0.0:1.0:0.0:0.0	.	185;184;185	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	N	185;185;53;185;53	ENSP00000262679:D185N;ENSP00000346890:D185N;ENSP00000444416:D53N;ENSP00000442262:D53N	ENSP00000262679:D185N	D	-	1	0	NRD1	52078563	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.892000	0.39748	2.141000	0.66446	0.555000	0.69702	GAT		0.358	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1		NM_002525		18	42	0	0	0	0.006122	0	18	42		
LEPR	3953	broad.mit.edu	37	1	66064359	66064359	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:66064359C>T	ENST00000349533.6	+	8	1051	c.866C>T	c.(865-867)tCa>tTa	p.S289L	LEPR_ENST00000371060.3_Missense_Mutation_p.S289L|LEPR_ENST00000371058.1_Missense_Mutation_p.S289L|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371059.3_Missense_Mutation_p.S289L|LEPR_ENST00000344610.8_Missense_Mutation_p.S289L	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AAGATTGTCTCAGCTACATCC	0.423																																						uc001dci.2		NaN																	0				skin(1)	1						c.(865-867)TCA>TTA		leptin receptor isoform 1							100.0	96.0	98.0					1																	66064359		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66064359C>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.866C>T	1.37:g.66064359C>T	ENSP00000330393:p.Ser289Leu					LEPR_uc001dcg.2_Missense_Mutation_p.S289L|LEPR_uc001dch.2_Missense_Mutation_p.S289L|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.S289L|LEPR_uc001dck.2_Missense_Mutation_p.S289L	p.S289L	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	8	1068	+			289			Extracellular (Potential).|Fibronectin type-III 1.		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.866C>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.715895	0.30413	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.81	0.267	0.15622	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.993651	0.08185	N	0.984792	T	0.19287	0.0463	L	0.37561	1.115	0.09310	N	1	B;B;B	0.10296	0.001;0.0;0.003	B;B;B	0.13407	0.002;0.004;0.009	T	0.31475	-0.9942	10	0.26408	T	0.33	-0.5318	8.4936	0.33115	0.0:0.5082:0.0:0.4918	.	289;289;289	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	L	289	ENSP00000340884:S289L;ENSP00000330393:S289L;ENSP00000360099:S289L;ENSP00000360098:S289L;ENSP00000360097:S289L	ENSP00000340884:S289L	S	+	2	0	LEPR	65836947	0.000000	0.05858	0.621000	0.29145	0.803000	0.45373	0.056000	0.14256	0.056000	0.16144	0.455000	0.32223	TCA		0.423	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1		NM_002303		16	89	0	0	0	0.010504	0	16	89		
LRRC8D	55144	broad.mit.edu	37	1	90400469	90400469	+	Silent	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:90400469A>G	ENST00000337338.5	+	3	2249	c.1842A>G	c.(1840-1842)acA>acG	p.T614T	LRRC8D_ENST00000394593.3_Silent_p.T614T	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	614					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CACATCTTACAAAGTTAGTCA	0.438																																						uc001dnm.2		NaN																	0				ovary(2)	2						c.(1840-1842)ACA>ACG		leucine rich repeat containing 8 family, member							82.0	79.0	80.0					1																	90400469		2203	4300	6503	SO:0001819	synonymous_variant	55144					integral to membrane	protein binding	g.chr1:90400469A>G	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1842A>G	1.37:g.90400469A>G						LRRC8D_uc001dnn.2_Silent_p.T614T	p.T614T	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	2267	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	614			LRR 5.		D3DT29|Q6UWB2|Q9NVW3	Silent	SNP	ENST00000337338.5	37	c.1842A>G	CCDS726.1																																																																																				0.438	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2		NM_018103		44	99	0	0	0	0.01441	0	44	99		
DNTTIP2	30836	broad.mit.edu	37	1	94343392	94343392	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:94343392C>T	ENST00000436063.2	-	2	156	c.99G>A	c.(97-99)gcG>gcA	p.A33A	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	33					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TTTCTGGATGCGCTTGAATCC	0.443																																						uc001dqf.2		NaN																	0					0						c.(97-99)GCG>GCA		deoxynucleotidyltransferase, terminal,							40.0	37.0	38.0					1																	94343392		1873	4118	5991	SO:0001819	synonymous_variant	30836				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:94343392C>T	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.99G>A	1.37:g.94343392C>T						DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Intron	p.A33A	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)	2	137	-		all_lung(203;0.0111)|Lung NSC(277;0.0347)	33					Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Silent	SNP	ENST00000436063.2	37	c.99G>A	CCDS44174.1																																																																																				0.443	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2		NM_014597		35	27	0	0	0	0.017118	0	35	27		
VTCN1	79679	broad.mit.edu	37	1	117699368	117699368	+	Silent	SNP	C	C	A	rs115383914	byFrequency	TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:117699368C>A	ENST00000369458.3	-	3	351	c.273G>T	c.(271-273)tcG>tcT	p.S91S	VTCN1_ENST00000359008.4_Silent_p.S94S|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000539893.1_5'UTR|VTCN1_ENST00000463461.1_5'UTR	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1											large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		CATCCTGCTCCGACAGCTCAT	0.458																																						uc001ehb.2		NaN																	0					0						c.(271-273)TCG>TCT		V-set domain containing T cell activation							120.0	109.0	113.0					1																	117699368		2203	4300	6503	SO:0001819	synonymous_variant	79679					integral to membrane|plasma membrane		g.chr1:117699368C>A	BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28873	protein-coding gene	gene with protein product	"""B7 family member, H4"", ""B7 superfamily member 1"""	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.273G>T	1.37:g.117699368C>A						VTCN1_uc001ehc.2_5'UTR|VTCN1_uc009whf.1_Intron	p.S91S	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)	3	345	-	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)	91			Ig-like V-type 1.|Extracellular (Potential).			Silent	SNP	ENST00000369458.3	37	c.273G>T	CCDS894.1																																																																																				0.458	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2		NM_024626		32	94	1	0	3.99451e-17	0.009535	4.29772e-17	32	94		
PDE4DIP	9659	broad.mit.edu	37	1	144871840	144871840	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:144871840G>C	ENST00000369354.3	-	32	5311	c.5122C>G	c.(5122-5124)Cag>Gag	p.Q1708E	PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q1844E|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q1793E|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q1708E|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1708					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AATGGTGCCTGAGGAAGGCTA	0.507			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(5122-5124)CAG>GAG		phosphodiesterase 4D interacting protein isoform							92.0	96.0	95.0					1																	144871840		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144871840G>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5122C>G	1.37:g.144871840G>C	ENSP00000358360:p.Gln1708Glu					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Missense_Mutation_p.Q715E	p.Q1708E	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	32	5413	-			1708					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.5122C>G	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987525	0.35036	.	.	ENSG00000178104	ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T	0.01495	4.83;4.83;4.86;4.83	5.18	4.27	0.50696	.	.	.	.	.	T	0.01800	0.0057	L	0.60455	1.87	0.80722	D	1	D	0.54964	0.969	D	0.64877	0.93	T	0.51834	-0.8655	9	0.06365	T	0.9	.	6.5343	0.22344	0.0898:0.0:0.7321:0.1782	.	1708	Q5VU43	MYOME_HUMAN	E	1708;1708;1793;1844	ENSP00000358360:Q1708E;ENSP00000358363:Q1708E;ENSP00000435654:Q1793E;ENSP00000358366:Q1844E	ENSP00000358360:Q1708E	Q	-	1	0	PDE4DIP	143583197	1.000000	0.71417	0.998000	0.56505	0.640000	0.38277	4.099000	0.57755	1.416000	0.47057	-0.142000	0.14014	CAG		0.507	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		7	168	0	0	0	0.001984	0	7	168		
PDE4DIP	9659	broad.mit.edu	37	1	144918839	144918839	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:144918839C>T	ENST00000369354.3	-	10	1536	c.1347G>A	c.(1345-1347)ttG>ttA	p.L449L	PDE4DIP_ENST00000313382.9_Silent_p.L515L|PDE4DIP_ENST00000369349.3_Silent_p.L449L|PDE4DIP_ENST00000529945.1_Silent_p.L612L|PDE4DIP_ENST00000369359.4_Silent_p.L586L|PDE4DIP_ENST00000530740.1_Silent_p.L586L|PDE4DIP_ENST00000313431.9_Silent_p.L612L|PDE4DIP_ENST00000369356.4_Silent_p.L449L|PDE4DIP_ENST00000369351.3_Silent_p.L449L|PDE4DIP_ENST00000479408.2_Silent_p.L236L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	449					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCACCTGAAGCAACTGCTCCT	0.403			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(1345-1347)TTG>TTA		phosphodiesterase 4D interacting protein isoform							404.0	441.0	428.0					1																	144918839		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144918839C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1347G>A	1.37:g.144918839C>T						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.L515L|PDE4DIP_uc001emc.1_Silent_p.L449L|PDE4DIP_uc001emd.1_Silent_p.L449L|PDE4DIP_uc001emb.1_Silent_p.L612L|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Silent_p.L236L	p.L449L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	10	1638	-			449			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.1347G>A	CCDS30824.1																																																																																				0.403	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		181	732	0	0	0	0.01441	0	181	732		
HORMAD1	84072	broad.mit.edu	37	1	150675844	150675844	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:150675844G>T	ENST00000361824.2	-	13	1079	c.974C>A	c.(973-975)tCt>tAt	p.S325Y	HORMAD1_ENST00000368993.2_Missense_Mutation_p.S325Y|RNU6-1042P_ENST00000384204.1_RNA|HORMAD1_ENST00000368995.4_Missense_Mutation_p.S245Y|HORMAD1_ENST00000322343.7_Missense_Mutation_p.S318Y	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	325					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ATCAAGTTCAGATGTTTTATT	0.274																																						uc001evk.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(973-975)TCT>TAT		HORMA domain containing 1							42.0	38.0	39.0					1																	150675844		2194	4286	6480	SO:0001583	missense	84072				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		g.chr1:150675844G>T	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.974C>A	1.37:g.150675844G>T	ENSP00000355167:p.Ser325Tyr					HORMAD1_uc001evl.1_Missense_Mutation_p.S318Y|HORMAD1_uc001evm.1_Missense_Mutation_p.S245Y	p.S325Y	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		13	1080	-	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		325					A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	ENST00000361824.2	37	c.974C>A	CCDS967.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.261093	0.23051	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824	T;T;T;T	0.54479	0.57;1.19;1.17;1.2	4.99	4.99	0.66335	.	0.071881	0.53938	D	0.000045	T	0.29423	0.0733	L	0.29908	0.895	0.41422	D	0.987809	B;B;B	0.22414	0.069;0.028;0.01	B;B;B	0.22386	0.039;0.024;0.01	T	0.09862	-1.0655	10	0.45353	T	0.12	-17.4202	15.5232	0.75881	0.0:0.0:1.0:0.0	.	245;318;325	Q86X24-4;Q86X24-2;Q86X24	.;.;HORM1_HUMAN	Y	245;325;254;245;318;325	ENSP00000357991:S245Y;ENSP00000357989:S325Y;ENSP00000326489:S318Y;ENSP00000355167:S325Y	ENSP00000326489:S318Y	S	-	2	0	HORMAD1	148942468	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	3.633000	0.54295	2.765000	0.95021	0.558000	0.71614	TCT		0.274	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1		NM_032132		7	45	1	0	3.09899e-07	0.004482	3.19705e-07	7	45		
PIP5K1A	8394	broad.mit.edu	37	1	151205031	151205031	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:151205031C>T	ENST00000368888.4	+	7	913	c.491C>T	c.(490-492)tCc>tTc	p.S164F	PIP5K1A_ENST00000414290.2_5'Flank|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.S151F|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.S152F|PIP5K1A_ENST00000409426.1_Missense_Mutation_p.S152F	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	164	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCCCAGTATTCCCTCTGCAGT	0.423																																					Pancreas(80;36 1443 2325 16095 21302)	uc001exj.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(490-492)TCC>TTC		phosphatidylinositol-4-phosphate 5-kinase, type							78.0	74.0	75.0					1																	151205031		2203	4300	6503	SO:0001583	missense	8394				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151205031C>T	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.491C>T	1.37:g.151205031C>T	ENSP00000357883:p.Ser164Phe					PIP5K1A_uc001exi.2_Missense_Mutation_p.S151F|PIP5K1A_uc010pcu.1_Missense_Mutation_p.S152F|PIP5K1A_uc001exk.2_Missense_Mutation_p.S151F|PIP5K1A_uc010pcv.1_5'Flank	p.S164F	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		7	943	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		164			PIPK.		A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP	ENST00000368888.4	37	c.491C>T	CCDS44219.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535649	0.85812	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368890;ENST00000368888	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.11	5.11	0.69529	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.75317	0.3833	H	0.98005	4.125	0.80722	D	1	D;D;D;D	0.76494	0.997;0.987;0.999;0.993	D;D;D;D	0.74348	0.972;0.917;0.983;0.957	D	0.84940	0.0865	10	0.87932	D	0	.	18.3861	0.90466	0.0:1.0:0.0:0.0	.	152;151;164;151	Q99755-4;Q99755-2;Q99755;Q99755-3	.;.;PI51A_HUMAN;.	F	151;152;152;151;164	ENSP00000271663:S151F;ENSP00000386432:S152F;ENSP00000415648:S152F;ENSP00000357885:S151F;ENSP00000357883:S164F	ENSP00000271663:S151F	S	+	2	0	PIP5K1A	149471655	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	7.606000	0.82863	2.683000	0.91414	0.479000	0.44913	TCC		0.423	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2		NM_003557		13	61	0	0	0	0.016522	0	13	61		
PIP5K1A	8394	broad.mit.edu	37	1	151205035	151205035	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:151205035C>T	ENST00000368888.4	+	7	917	c.495C>T	c.(493-495)ctC>ctT	p.L165L	PIP5K1A_ENST00000414290.2_5'Flank|PIP5K1A_ENST00000368890.4_Silent_p.L152L|PIP5K1A_ENST00000441902.2_Silent_p.L153L|PIP5K1A_ENST00000409426.1_Silent_p.L153L	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	165	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGTATTCCCTCTGCAGTGAGC	0.428																																					Pancreas(80;36 1443 2325 16095 21302)	uc001exj.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(493-495)CTC>CTT		phosphatidylinositol-4-phosphate 5-kinase, type							78.0	74.0	76.0					1																	151205035		2203	4300	6503	SO:0001819	synonymous_variant	8394				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151205035C>T	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.495C>T	1.37:g.151205035C>T						PIP5K1A_uc001exi.2_Silent_p.L152L|PIP5K1A_uc010pcu.1_Silent_p.L153L|PIP5K1A_uc001exk.2_Silent_p.L152L|PIP5K1A_uc010pcv.1_5'Flank	p.L165L	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		7	947	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		165			PIPK.		A8K4Q0|B4DIN0|Q99754|Q99756	Silent	SNP	ENST00000368888.4	37	c.495C>T	CCDS44219.1																																																																																				0.428	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2		NM_003557		12	57	0	0	0	0.016522	0	12	57		
PIP5K1A	8394	broad.mit.edu	37	1	151205059	151205059	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:151205059C>T	ENST00000368888.4	+	7	941	c.519C>T	c.(517-519)ctC>ctT	p.L173L	PIP5K1A_ENST00000414290.2_5'Flank|PIP5K1A_ENST00000368890.4_Silent_p.L160L|PIP5K1A_ENST00000441902.2_Silent_p.L161L|PIP5K1A_ENST00000409426.1_Silent_p.L161L	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	173	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGATTGAACTCTGTAGCTCTG	0.458																																					Pancreas(80;36 1443 2325 16095 21302)	uc001exj.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(517-519)CTC>CTT		phosphatidylinositol-4-phosphate 5-kinase, type							92.0	86.0	88.0					1																	151205059		2203	4300	6503	SO:0001819	synonymous_variant	8394				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151205059C>T	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.519C>T	1.37:g.151205059C>T						PIP5K1A_uc001exi.2_Silent_p.L160L|PIP5K1A_uc010pcu.1_Silent_p.L161L|PIP5K1A_uc001exk.2_Silent_p.L160L|PIP5K1A_uc010pcv.1_5'Flank	p.L173L	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		7	971	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		173			PIPK.		A8K4Q0|B4DIN0|Q99754|Q99756	Silent	SNP	ENST00000368888.4	37	c.519C>T	CCDS44219.1																																																																																				0.458	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2		NM_003557		21	65	0	0	0	0.012213	0	21	65		
PIP5K1A	8394	broad.mit.edu	37	1	151205113	151205113	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:151205113C>G	ENST00000368888.4	+	7	995	c.573C>G	c.(571-573)ttC>ttG	p.F191L	PIP5K1A_ENST00000414290.2_5'Flank|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.F178L|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.F179L|PIP5K1A_ENST00000409426.1_Missense_Mutation_p.F179L	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	191	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACGATGAGTTCATTATTAAGA	0.488																																					Pancreas(80;36 1443 2325 16095 21302)	uc001exj.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(571-573)TTC>TTG		phosphatidylinositol-4-phosphate 5-kinase, type							99.0	92.0	94.0					1																	151205113		2203	4300	6503	SO:0001583	missense	8394				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151205113C>G	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.573C>G	1.37:g.151205113C>G	ENSP00000357883:p.Phe191Leu					PIP5K1A_uc001exi.2_Missense_Mutation_p.F178L|PIP5K1A_uc010pcu.1_Missense_Mutation_p.F179L|PIP5K1A_uc001exk.2_Missense_Mutation_p.F178L|PIP5K1A_uc010pcv.1_5'Flank	p.F191L	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		7	1025	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		191			PIPK.		A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP	ENST00000368888.4	37	c.573C>G	CCDS44219.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.248190	0.39697	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368890;ENST00000368888	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.11	3.18	0.36537	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	M	0.81614	2.55	0.80722	D	1	B;B;B;B	0.19706	0.038;0.018;0.022;0.031	B;B;B;B	0.36989	0.238;0.019;0.052;0.057	T	0.47849	-0.9085	10	0.72032	D	0.01	.	9.1778	0.37123	0.0:0.7439:0.0:0.2561	.	179;178;191;178	Q99755-4;Q99755-2;Q99755;Q99755-3	.;.;PI51A_HUMAN;.	L	178;179;179;178;191	ENSP00000271663:F178L;ENSP00000386432:F179L;ENSP00000415648:F179L;ENSP00000357885:F178L;ENSP00000357883:F191L	ENSP00000271663:F178L	F	+	3	2	PIP5K1A	149471737	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	0.853000	0.27777	0.692000	0.31613	0.479000	0.44913	TTC		0.488	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2		NM_003557		37	70	0	0	0	0.00623	0	37	70		
FLG	2312	broad.mit.edu	37	1	152282887	152282887	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:152282887T>C	ENST00000368799.1	-	3	4510	c.4475A>G	c.(4474-4476)cAc>cGc	p.H1492R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1492	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCCCGGGTGTCCACGAAT	0.587									Ichthyosis																													uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(4474-4476)CAC>CGC		filaggrin							382.0	371.0	375.0					1																	152282887		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282887T>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4475A>G	1.37:g.152282887T>C	ENSP00000357789:p.His1492Arg						p.H1492R	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4511	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1492			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4475A>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.425029	0.25639	.	.	ENSG00000143631	ENST00000368799	T	0.01629	4.72	3.26	-2.48	0.06423	.	.	.	.	.	T	0.00524	0.0017	L	0.55990	1.75	0.09310	N	1	B	0.22909	0.077	B	0.14578	0.011	T	0.44667	-0.9313	9	0.15952	T	0.53	.	3.94	0.09323	0.0:0.3946:0.2123:0.3931	.	1492	P20930	FILA_HUMAN	R	1492	ENSP00000357789:H1492R	ENSP00000357789:H1492R	H	-	2	0	FLG	150549511	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.253000	0.08794	-0.218000	0.10018	0.454000	0.30748	CAC		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		119	737	0	0	0	0.01441	0	119	737		
CD1C	911	broad.mit.edu	37	1	158263070	158263070	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:158263070G>T	ENST00000368170.3	+	5	1237	c.958G>T	c.(958-960)Gtg>Ttg	p.V320L		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	320					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AATAGTCCTTGTGTTATGGTT	0.393																																						uc001fru.2		NaN																	0				ovary(2)|skin(1)|pancreas(1)	4						c.(958-960)GTG>TTG		CD1C antigen precursor							502.0	467.0	479.0					1																	158263070		2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158263070G>T	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.958G>T	1.37:g.158263070G>T	ENSP00000357152:p.Val320Leu					CD1C_uc001frv.2_Intron	p.V320L	NM_001765	NP_001756	P29017	CD1C_HUMAN			5	1250	+	all_hematologic(112;0.0378)		320			Helical; (Potential).		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.958G>T	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	G	9.634	1.137190	0.21123	.	.	ENSG00000158481	ENST00000368170;ENST00000454192	T	0.01197	5.19	3.78	1.84	0.25277	.	.	.	.	.	T	0.00440	0.0014	L	0.41824	1.3	0.09310	N	1	B	0.25955	0.138	B	0.22601	0.04	T	0.46938	-0.9155	9	0.46703	T	0.11	.	4.0459	0.09773	0.1235:0.0:0.6417:0.2348	.	320	P29017	CD1C_HUMAN	L	320;123	ENSP00000357152:V320L	ENSP00000357152:V320L	V	+	1	0	CD1C	156529694	0.000000	0.05858	0.065000	0.19835	0.056000	0.15407	0.285000	0.18883	0.922000	0.37019	0.558000	0.71614	GTG		0.393	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2		NM_001765		78	736	1	0	1.69816e-31	0.01441	1.9024e-31	78	736		
NCSTN	23385	broad.mit.edu	37	1	160326942	160326942	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:160326942G>C	ENST00000294785.5	+	16	2031	c.1906G>C	c.(1906-1908)Gaa>Caa	p.E636Q	NCSTN_ENST00000392212.4_Missense_Mutation_p.E616Q|NCSTN_ENST00000535857.1_Missense_Mutation_p.E498Q|NCSTN_ENST00000368063.1_Missense_Mutation_p.E616Q|NCSTN_ENST00000368065.4_Missense_Mutation_p.E378Q	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	636					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCTGCCTTTGAACTGAGTCA	0.537																																						uc001fvx.2		NaN																	0				ovary(1)|lung(1)	2						c.(1906-1908)GAA>CAA		nicastrin precursor							108.0	97.0	101.0					1																	160326942		2203	4300	6503	SO:0001583	missense	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160326942G>C	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1906G>C	1.37:g.160326942G>C	ENSP00000294785:p.Glu636Gln					NCSTN_uc001fvy.2_Missense_Mutation_p.E616Q|NCSTN_uc010pjf.1_Missense_Mutation_p.E498Q|NCSTN_uc001fvz.2_Missense_Mutation_p.E416Q|NCSTN_uc010pjg.1_Missense_Mutation_p.E378Q	p.E636Q	NM_015331	NP_056146	Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		16	2030	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		636			Extracellular (Potential).		Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	c.1906G>C	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501388	0.64298	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000535857;ENST00000392212;ENST00000368065	T;T;T;T	0.78595	-1.19;-1.18;-0.21;-1.18	5.55	5.55	0.83447	.	0.262076	0.42821	D	0.000653	D	0.84561	0.5499	M	0.74881	2.28	0.48901	D	0.999724	D;P;P	0.76494	0.999;0.898;0.836	D;P;P	0.68483	0.958;0.552;0.47	T	0.81994	-0.0677	10	0.31617	T	0.26	-16.3757	18.0578	0.89368	0.0:0.0:1.0:0.0	.	498;616;636	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	Q	636;616;498;616;378	ENSP00000294785:E636Q;ENSP00000357042:E616Q;ENSP00000442605:E498Q;ENSP00000376047:E616Q	ENSP00000294785:E636Q	E	+	1	0	NCSTN	158593566	1.000000	0.71417	0.995000	0.50966	0.928000	0.56348	4.562000	0.60816	2.606000	0.88127	0.650000	0.86243	GAA		0.537	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1		NM_015331		32	375	0	0	0	0.015359	0	32	375		
RGS4	5999	broad.mit.edu	37	1	163044271	163044271	+	Missense_Mutation	SNP	C	C	G	rs368964432		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:163044271C>G	ENST00000367909.6	+	5	879	c.539C>G	c.(538-540)cCg>cGg	p.P180R	RGS4_ENST00000527809.1_Missense_Mutation_p.P162R|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000421743.2_Missense_Mutation_p.P277R|RGS4_ENST00000367906.3_Missense_Mutation_p.P162R|RGS4_ENST00000491263.1_3'UTR	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	180					inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)	p.P180Q(1)|p.P277Q(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TTGGTCAACCCGTCCAGCTGT	0.517																																					Ovarian(76;1257 1738 3039 6086)	uc009wuy.2		NaN																	2	Substitution - Missense(2)		kidney(2)	ovary(2)|central_nervous_system(1)	3						c.(538-540)CCG>CGG		regulator of G-protein signaling 4 isoform 2							171.0	185.0	181.0					1																	163044271		2203	4300	6503	SO:0001583	missense	5999				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:163044271C>G	BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"""Regulators of G-protein signaling"""	10000	protein-coding gene	gene with protein product		602516	"""regulator of G-protein signalling 4"", ""schizophrenia disorder 9"""	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.539C>G	1.37:g.163044271C>G	ENSP00000356885:p.Pro180Arg					RGS4_uc001gcl.3_Missense_Mutation_p.P277R|RGS4_uc009wuz.2_3'UTR|RGS4_uc009wva.2_Missense_Mutation_p.P162R	p.P180R	NM_005613	NP_005604	P49798	RGS4_HUMAN			5	1050	+			180					A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Missense_Mutation	SNP	ENST00000367909.6	37	c.539C>G	CCDS1243.1	.	.	.	.	.	.	.	.	.	.	C	9.080	0.999119	0.19121	.	.	ENSG00000117152	ENST00000421743;ENST00000367909;ENST00000527809;ENST00000367906	T;T;T;T	0.49720	0.77;0.83;0.83;0.83	5.11	1.94	0.25998	.	0.988904	0.08247	N	0.975208	T	0.08447	0.0210	N	0.11427	0.14	0.38074	D	0.936468	B;B	0.32893	0.008;0.389	B;B	0.26614	0.011;0.071	T	0.18587	-1.0332	9	0.23891	T	0.37	.	3.8464	0.08936	0.3305:0.4828:0.0:0.1867	.	180;277	P49798;A7XA59	RGS4_HUMAN;.	R	277;180;162;162	ENSP00000397181:P277R;ENSP00000356885:P180R;ENSP00000433261:P162R;ENSP00000356882:P162R	ENSP00000356882:P162R	P	+	2	0	RGS4	161310895	0.741000	0.28217	0.165000	0.22776	0.547000	0.35210	1.281000	0.33214	0.656000	0.30886	0.655000	0.94253	CCG		0.517	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083197.2		NM_005613		56	436	0	0	0	0.01441	0	56	436		
DCAF6	55827	broad.mit.edu	37	1	168007717	168007717	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:168007717C>T	ENST00000312263.6	+	11	1691	c.1487C>T	c.(1486-1488)aCa>aTa	p.T496I	DCAF6_ENST00000432587.2_Missense_Mutation_p.T542I|DCAF6_ENST00000367843.3_Missense_Mutation_p.T516I|DCAF6_ENST00000367840.3_Missense_Mutation_p.T573I	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	496					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CTGAACTTTACAGATGAATGG	0.333																																						uc001gew.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1486-1488)ACA>ATA		IQ motif and WD repeats 1 isoform b							86.0	83.0	84.0					1																	168007717		2203	4300	6503	SO:0001583	missense	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:168007717C>T	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1487C>T	1.37:g.168007717C>T	ENSP00000311949:p.Thr496Ile					DCAF6_uc001gev.2_Missense_Mutation_p.T516I|DCAF6_uc001gex.2_Missense_Mutation_p.T573I|DCAF6_uc010plk.1_Missense_Mutation_p.T542I|DCAF6_uc001gey.2_Missense_Mutation_p.T369I	p.T496I	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN			11	1729	+			496					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	c.1487C>T	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.790858	0.70452	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	4.96	4.96	0.65561	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.39860	0.1094	L	0.36672	1.1	0.32836	D	0.504656	D;D;D;D	0.89917	0.979;0.998;0.999;1.0	P;D;D;D	0.91635	0.543;0.944;0.943;0.999	T	0.36648	-0.9739	9	0.72032	D	0.01	.	18.5734	0.91145	0.0:1.0:0.0:0.0	.	542;573;496;516	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	I	516;542;496;573	ENSP00000356817:T516I;ENSP00000396238:T542I;ENSP00000311949:T496I;ENSP00000356814:T573I	ENSP00000311949:T496I	T	+	2	0	DCAF6	166274341	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.838000	0.69388	2.467000	0.83353	0.460000	0.39030	ACA		0.333	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2		NM_018442		30	142	0	0	0	0.010818	0	30	142		
FAM20B	9917	broad.mit.edu	37	1	179019501	179019501	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:179019501G>A	ENST00000263733.4	+	3	800		c.e3+1			NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						ACTTGGACAGGTGCGTATGAT	0.443																																						uc001gmc.2		NaN																	0				ovary(3)	3						c.e3+1		hypothetical protein LOC9917 precursor							202.0	163.0	176.0					1																	179019501		2203	4300	6503	SO:0001630	splice_region_variant	9917					Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:179019501G>A	AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"""glycosaminoglycan xylosylkinase"""	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.464+1G>A	1.37:g.179019501G>A							p.R155_splice	NM_014864	NP_055679	O75063	XYLK_HUMAN			3	757	+								Q5W0C3|Q5W0C4	Splice_Site	SNP	ENST00000263733.4	37	c.464_splice	CCDS1328.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655371	0.88056	.	.	ENSG00000116199	ENST00000263733	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.139	0.98050	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM20B	177286124	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	9.340000	0.97038	2.764000	0.94973	0.655000	0.94253	.		0.443	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1		NM_014864	Intron	62	123	0	0	0	0.01441	0	62	123		
RGS18	64407	broad.mit.edu	37	1	192127775	192127775	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:192127775C>T	ENST00000367460.3	+	1	189	c.8C>T	c.(7-9)aCa>aTa	p.T3I	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	3					G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGATGGAAACAACATTGCTT	0.264																																						uc001gsg.2		NaN																	0				ovary(3)	3						c.(7-9)ACA>ATA		regulator of G-protein signalling 18							31.0	34.0	33.0					1																	192127775		2195	4276	6471	SO:0001583	missense	64407				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192127775C>T	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.8C>T	1.37:g.192127775C>T	ENSP00000356430:p.Thr3Ile						p.T3I	NM_130782	NP_570138	Q9NS28	RGS18_HUMAN			1	184	+			3					B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	c.8C>T	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	C	9.727	1.161218	0.21538	.	.	ENSG00000150681	ENST00000367460	T	0.52295	0.67	5.68	2.43	0.29744	.	0.572455	0.17409	N	0.175242	T	0.39784	0.1091	L	0.54323	1.7	0.24585	N	0.993857	B	0.30406	0.278	B	0.31337	0.128	T	0.39333	-0.9619	10	0.72032	D	0.01	.	5.7071	0.17915	0.1965:0.6166:0.0:0.1868	.	3	Q9NS28	RGS18_HUMAN	I	3	ENSP00000356430:T3I	ENSP00000356430:T3I	T	+	2	0	RGS18	190394398	0.687000	0.27671	0.944000	0.38274	0.427000	0.31564	0.921000	0.28718	0.730000	0.32425	0.650000	0.86243	ACA		0.264	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1		NM_130782		16	45	0	0	0	0.003163	0	16	45		
KIF14	9928	broad.mit.edu	37	1	200587160	200587160	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:200587160C>G	ENST00000367350.4	-	2	1130	c.692G>C	c.(691-693)aGa>aCa	p.R231T		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	231	Required for PRC1-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GTGTCCTGATCTAACAACTTC	0.408																																						uc010ppk.1		NaN																	0				breast(3)|ovary(2)|skin(2)	7						c.(691-693)AGA>ACA		kinesin family member 14							156.0	160.0	159.0					1																	200587160		2203	4300	6503	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200587160C>G	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.692G>C	1.37:g.200587160C>G	ENSP00000356319:p.Arg231Thr					KIF14_uc010ppj.1_5'UTR	p.R231T	NM_014875	NP_055690	Q15058	KIF14_HUMAN			2	1131	-			231			Required for PRC1-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.692G>C	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846435	0.32606	.	.	ENSG00000118193	ENST00000367350	T	0.74526	-0.85	5.37	2.49	0.30216	.	0.563354	0.17073	N	0.188109	T	0.53642	0.1809	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.14023	0.01	T	0.29671	-1.0004	10	0.11485	T	0.65	.	3.0629	0.06205	0.1214:0.5421:0.1275:0.209	.	231	Q15058	KIF14_HUMAN	T	231	ENSP00000356319:R231T	ENSP00000356319:R231T	R	-	2	0	KIF14	198853783	0.000000	0.05858	0.000000	0.03702	0.326000	0.28443	0.090000	0.15025	0.253000	0.21552	-0.225000	0.12378	AGA		0.408	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1		NM_014875		379	65	0	0	0	0.01441	0	379	65		
CDC42BPA	8476	broad.mit.edu	37	1	227204728	227204728	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:227204728C>G	ENST00000366769.3	-	32	5825	c.4534G>C	c.(4534-4536)Gaa>Caa	p.E1512Q	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.E1484Q|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.E1512Q|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.E1525Q|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.E1492Q|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.E1431Q|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.E1547Q	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCTGATGTTTCAGGTACTACC	0.363																																						uc001hqr.2		NaN																	0				lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(4534-4536)GAA>CAA		CDC42-binding protein kinase alpha isoform B							171.0	159.0	163.0					1																	227204728		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227204728C>G	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.4534G>C	1.37:g.227204728C>G	ENSP00000355731:p.Glu1512Gln					CDC42BPA_uc001hqq.2_Missense_Mutation_p.E811Q|CDC42BPA_uc001hqs.2_Missense_Mutation_p.E1431Q|CDC42BPA_uc009xes.2_Missense_Mutation_p.E1484Q|CDC42BPA_uc010pvs.1_Missense_Mutation_p.E1492Q|CDC42BPA_uc001hqp.2_Missense_Mutation_p.E668Q|CDC42BPA_uc001hqt.2_Missense_Mutation_p.E390Q	p.E1512Q	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			32	5477	-		all_cancers(173;0.156)|Prostate(94;0.0792)	1525						Missense_Mutation	SNP	ENST00000366769.3	37	c.4534G>C	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.44|19.44	3.828821|3.828821	0.71258|0.71258	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765|ENST00000448940;ENST00000442054;ENST00000429440	T;T;T;T;T;T;T|.	0.66995|.	-0.21;-0.22;-0.22;-0.19;-0.24;-0.21;-0.2|.	5.41|5.41	4.49|4.49	0.54785|0.54785	.|.	0.097619|.	0.64402|.	D|.	0.000002|.	T|.	0.62245|.	0.2412|.	L|L	0.52126|0.52126	1.63|1.63	0.49213|0.49213	D|D	0.999763|0.999763	D;D;B;D;P;P;P|.	0.76494|.	0.999;0.99;0.255;0.997;0.93;0.93;0.719|.	D;P;B;D;P;P;B|.	0.81914|.	0.995;0.882;0.097;0.977;0.572;0.651;0.348|.	T|.	0.59857|.	-0.7375|.	10|.	0.17369|.	T|.	0.5|.	.|.	13.9923|13.9923	0.64374|0.64374	0.0:0.9271:0.0:0.0729|0.0:0.9271:0.0:0.0729	.|.	1492;1484;409;1431;1512;1547;714|.	F5H5N0;Q5VT25-4;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799|.	.;.;.;.;.;.;.|.	Q|S	1512;1431;1512;1547;1484;1492;1525|714;840;409	ENSP00000355731:E1512Q;ENSP00000355729:E1431Q;ENSP00000335341:E1512Q;ENSP00000355728:E1547Q;ENSP00000355726:E1484Q;ENSP00000443275:E1492Q;ENSP00000355727:E1525Q|.	ENSP00000335341:E1512Q|.	E|X	-|-	1|2	0|2	CDC42BPA|CDC42BPA	225271351|225271351	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	7.456000|7.456000	0.80751|0.80751	1.280000|1.280000	0.44463|0.44463	0.563000|0.563000	0.77884|0.77884	GAA|TGA		0.363	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1		NM_014826		60	103	0	0	0	0.01441	0	60	103		
HEATR1	55127	broad.mit.edu	37	1	236729993	236729993	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:236729993C>T	ENST00000366582.3	-	30	4375	c.4261G>A	c.(4261-4263)Gaa>Aaa	p.E1421K	HEATR1_ENST00000366581.2_Missense_Mutation_p.E1340K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1421					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACATACTGTTCAAAAAGCAAG	0.488																																						uc001hyd.1		NaN																	0				ovary(2)|skin(1)	3						c.(4261-4263)GAA>AAA		protein BAP28							47.0	45.0	46.0					1																	236729993		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236729993C>T	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.4261G>A	1.37:g.236729993C>T	ENSP00000355541:p.Glu1421Lys					HEATR1_uc009xgh.1_Missense_Mutation_p.E583K	p.E1421K	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		30	4386	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1421					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.4261G>A	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187563	0.78789	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.29655	1.56;1.56	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.104089	0.64402	D	0.000003	T	0.24509	0.0594	L	0.38953	1.18	0.80722	D	1	P;B	0.37824	0.609;0.076	B;B	0.33690	0.168;0.026	T	0.02661	-1.1127	10	0.29301	T	0.29	.	15.134	0.72549	0.0:0.8592:0.1408:0.0	.	1340;1421	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	K	1421;1340	ENSP00000355541:E1421K;ENSP00000355540:E1340K	ENSP00000355540:E1340K	E	-	1	0	HEATR1	234796616	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	4.433000	0.59929	2.635000	0.89317	0.655000	0.94253	GAA		0.488	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1		XM_375853		28	36	0	0	0	0.009535	0	28	36		
OR1C1	26188	broad.mit.edu	37	1	247921243	247921243	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:247921243C>A	ENST00000408896.2	-	1	739	c.466G>T	c.(466-468)Gcc>Tcc	p.A156S		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	156					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGCAGGAGGGCGTGGAGGTAA	0.498																																						uc010pza.1		NaN																	0				skin(1)	1						c.(466-468)GCC>TCC		olfactory receptor, family 1, subfamily C,							63.0	61.0	62.0					1																	247921243		2064	4219	6283	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921243C>A	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.466G>T	1.37:g.247921243C>A	ENSP00000386138:p.Ala156Ser						p.A156S	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	466	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	156			Helical; Name=4; (Potential).		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.466G>T	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	C	4.756	0.140574	0.09083	.	.	ENSG00000221888	ENST00000408896	T	0.35048	1.33	3.19	1.02	0.19986	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.15305	0.0369	N	0.02960	-0.455	0.09310	N	1	B	0.32409	0.37	B	0.41440	0.357	T	0.37009	-0.9724	9	0.02654	T	1	.	5.9781	0.19391	0.2978:0.5879:0.0:0.1144	.	156	Q15619	OR1C1_HUMAN	S	156	ENSP00000386138:A156S	ENSP00000386138:A156S	A	-	1	0	OR1C1	245987866	0.000000	0.05858	0.962000	0.40283	0.626000	0.37791	-0.787000	0.04618	0.667000	0.31107	0.580000	0.79431	GCC		0.498	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1				41	7	1	0	1.49673e-21	0.00623	1.64288e-21	41	7		
MYO3A	53904	broad.mit.edu	37	10	26377316	26377316	+	Missense_Mutation	SNP	G	G	T	rs200209381		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:26377316G>T	ENST00000265944.5	+	15	1710	c.1544G>T	c.(1543-1545)cGa>cTa	p.R515L	MYO3A_ENST00000543632.1_Missense_Mutation_p.R515L	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	515	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAAAAATCCCGAGTTATCCAC	0.358																																						uc001isn.2		NaN																	0				ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(1543-1545)CGA>CTA		myosin IIIA							59.0	61.0	60.0					10																	26377316		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26377316G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1544G>T	10.37:g.26377316G>T	ENSP00000265944:p.Arg515Leu					MYO3A_uc009xko.1_Missense_Mutation_p.R515L|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.R515L	p.R515L	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			15	1904	+			515			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.1544G>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180708	0.94846	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	D;D	0.96885	-4.16;-4.16	5.78	5.78	0.91487	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.99070	0.9681	H	0.98446	4.235	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.996;0.998;1.0	D	0.98869	1.0765	10	0.87932	D	0	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	515;515;515	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	L	515	ENSP00000265944:R515L;ENSP00000445909:R515L	ENSP00000265944:R515L	R	+	2	0	MYO3A	26417322	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.813000	0.99286	2.894000	0.99253	0.655000	0.94253	CGA		0.358	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1		NM_017433		73	47	1	0	8.83742e-36	0.01441	9.96885e-36	73	47		
BMS1	9790	broad.mit.edu	37	10	43292463	43292463	+	Missense_Mutation	SNP	G	G	A	rs145513181		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:43292463G>A	ENST00000374518.5	+	10	1834	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	591					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTTTGCATCTGAAGATGAATC	0.448													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21189	0.0		0.0	False		,,,				2504	0.0					uc001jaj.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1771-1773)GAA>AAA		BMS1-like, ribosome assembly protein		G	LYS/GLU	0,4406		0,0,2203	74.0	74.0	74.0		1771	4.8	1.0	10	dbSNP_134	74	2,8598	2.2+/-6.3	0,2,4298	no	missense	BMS1	NM_014753.3	56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	591/1283	43292463	2,13004	2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43292463G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.1771G>A	10.37:g.43292463G>A	ENSP00000363642:p.Glu591Lys						p.E591K	NM_014753	NP_055568	Q14692	BMS1_HUMAN			10	2129	+			591					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.1771G>A	CCDS7199.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	13.84	2.357201	0.41801	0.0	2.33E-4	ENSG00000165733	ENST00000374518	T	0.26373	1.74	4.79	4.79	0.61399	.	0.454838	0.23510	N	0.047416	T	0.21267	0.0512	L	0.36672	1.1	0.43283	D	0.995258	P	0.42871	0.792	B	0.37731	0.257	T	0.04178	-1.0971	10	0.15499	T	0.54	.	18.2534	0.90011	0.0:0.0:1.0:0.0	.	591	Q14692	BMS1_HUMAN	K	591	ENSP00000363642:E591K	ENSP00000363642:E591K	E	+	1	0	BMS1	42612469	1.000000	0.71417	0.996000	0.52242	0.140000	0.21249	5.647000	0.67923	2.381000	0.81170	0.549000	0.68633	GAA		0.448	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2		NM_014753		23	82	0	0	0	0.021523	0	23	82		
SLC18A3	6572	broad.mit.edu	37	10	50819136	50819136	+	Missense_Mutation	SNP	C	C	T	rs200894047		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:50819136C>T	ENST00000374115.3	+	1	790	c.350C>T	c.(349-351)aCg>aTg	p.T117M	CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000337653.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	117					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.T117M(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CGCTACCCTACGGAGAGCGAA	0.657																																						uc001jhw.2		NaN																	1	Substitution - Missense(1)		endometrium(1)	ovary(2)	2						c.(349-351)ACG>ATG		vesicular acetylcholine transporter							71.0	73.0	72.0					10																	50819136		2203	4300	6503	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819136C>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.350C>T	10.37:g.50819136C>T	ENSP00000363229:p.Thr117Met					CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank	p.T117M	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	790	+			117			Lumenal, vesicle (Potential).		B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.350C>T	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	C	8.240	0.806687	0.16467	.	.	ENSG00000187714	ENST00000374115	T	0.60040	0.22	4.94	1.97	0.26223	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.492669	0.18113	U	0.151318	T	0.26810	0.0656	N	0.01352	-0.895	0.09310	N	0.999998	B	0.25235	0.121	B	0.22880	0.042	T	0.21586	-1.0241	10	0.35671	T	0.21	-0.9492	11.0437	0.47846	0.0:0.5284:0.3993:0.0723	.	117	Q16572	VACHT_HUMAN	M	117	ENSP00000363229:T117M	ENSP00000363229:T117M	T	+	2	0	SLC18A3	50489142	0.002000	0.14202	0.744000	0.31058	0.901000	0.52897	1.393000	0.34497	0.473000	0.27368	0.561000	0.74099	ACG		0.657	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1		NM_003055		25	47	0	0	0	0.00632	0	25	47		
ADAMTS14	140766	broad.mit.edu	37	10	72511899	72511899	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:72511899T>G	ENST00000373207.1	+	18	2645	c.2645T>G	c.(2644-2646)aTg>aGg	p.M882R	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.M885R	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	882	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GACCACCACATGGTGCAGCGA	0.657																																						uc001jrh.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(2644-2646)ATG>AGG		ADAM metallopeptidase with thrombospondin type 1							56.0	53.0	54.0					10																	72511899		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72511899T>G	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2645T>G	10.37:g.72511899T>G	ENSP00000362303:p.Met882Arg					ADAMTS14_uc001jrg.2_Missense_Mutation_p.M885R	p.M882R	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			18	2645	+			882			TSP type-1 2.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.2645T>G	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.896130	0.72639	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.60171	0.21;0.21	4.53	3.4	0.38934	.	0.058986	0.64402	D	0.000003	T	0.53286	0.1787	L	0.48935	1.535	0.44123	D	0.996901	P;P	0.47191	0.891;0.596	P;B	0.46208	0.507;0.324	T	0.52734	-0.8536	10	0.52906	T	0.07	.	9.6478	0.39879	0.0:0.0832:0.0:0.9168	.	882;885	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	R	885;882	ENSP00000362304:M885R;ENSP00000362303:M882R	ENSP00000362303:M882R	M	+	2	0	ADAMTS14	72181905	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.029000	0.70895	0.781000	0.33589	0.533000	0.62120	ATG		0.657	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1		NM_080722		6	15	0	0	0	0.001984	0	6	15		
C10orf105	414152	broad.mit.edu	37	10	73494069	73494069	+	Intron	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:73494069G>A	ENST00000398786.2	-	1	97				CDH23_ENST00000224721.6_Missense_Mutation_p.D1398N	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											GGTGGCAGATGACGGCGGCCC	0.622																																						uc001jrx.3		NaN																	0				central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(4177-4179)GAC>AAC		cadherin-like 23 isoform 1 precursor							54.0	63.0	60.0					10																	73494069		2118	4198	6316	SO:0001627	intron_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73494069G>A	AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000398786.2:c.4+3415C>T	10.37:g.73494069G>A						C10orf105_uc001jsb.1_Intron|CDH23_uc001jsc.1_Missense_Mutation_p.D201N	p.D1393N	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			32	4554	+			1393			Cadherin 13.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000398786.2	37	c.4177G>A	CCDS44430.1	.	.	.	.	.	.	.	.	.	.	G	33	5.193973	0.94960	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398792	.	.	.	4.49	4.49	0.54785	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.84483	0.5482	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.77557	0.99;0.958	D	0.85776	0.1358	9	0.38643	T	0.18	.	17.7338	0.88387	0.0:0.0:1.0:0.0	.	214;1393	E7ERT0;Q9H251	.;CAD23_HUMAN	N	1398;1393;1396;214	.	ENSP00000224721:D1398N	D	+	1	0	CDH23	73164075	1.000000	0.71417	0.317000	0.25265	0.966000	0.64601	6.475000	0.73582	2.492000	0.84095	0.655000	0.94253	GAC		0.622	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2		NM_001164375		3	8	0	0	0	0.004672	0	3	8		
CFAP70	118491	broad.mit.edu	37	10	75051461	75051461	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:75051461C>G	ENST00000310715.3	-	19	2287	c.2167G>C	c.(2167-2169)Gaa>Caa	p.E723Q	TTC18_ENST00000394865.1_Missense_Mutation_p.E723Q|TTC18_ENST00000355577.3_Missense_Mutation_p.E192Q|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Missense_Mutation_p.E723Q|TTC18_ENST00000493787.1_5'UTR	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		723						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					AAGAAAATTTCTGCTTGCTCA	0.418																																						uc009xrc.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2167-2169)GAA>CAA		tetratricopeptide repeat domain 18							86.0	75.0	79.0					10																	75051461		2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75051461C>G																												ENST00000310715.3:c.2167G>C	10.37:g.75051461C>G	ENSP00000310829:p.Glu723Gln					TTC18_uc001jty.2_Missense_Mutation_p.E723Q|TTC18_uc001jtv.3_5'Flank|TTC18_uc001jtw.3_5'Flank|TTC18_uc001jtx.2_Missense_Mutation_p.E104Q	p.E723Q	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN			19	2288	-	Prostate(51;0.0119)		723			TPR 3.		C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.2167G>C	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000017	0.74818	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000433268;ENST00000394865	D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68	5.63	5.63	0.86233	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.132352	0.51477	D	0.000091	D	0.96106	0.8731	M	0.68593	2.085	0.51012	D	0.999909	D	0.59357	0.985	P	0.62560	0.904	D	0.94061	0.7326	10	0.20046	T	0.44	-5.6242	17.542	0.87851	0.0:1.0:0.0:0.0	.	723	Q5T0N1	TTC18_HUMAN	Q	723;723;723;130;723	ENSP00000310829:E723Q;ENSP00000384479:E723Q;ENSP00000409527:E130Q;ENSP00000378334:E723Q	ENSP00000310829:E723Q	E	-	1	0	TTC18	74721467	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.343000	0.59348	2.814000	0.96858	0.591000	0.81541	GAA		0.418	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding					15	25	0	0	0	0.020292	0	15	25		
MSS51	118490	broad.mit.edu	37	10	75184443	75184443	+	Silent	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:75184443G>C	ENST00000372912.1	-	6	1253	c.1251C>G	c.(1249-1251)ctC>ctG	p.L417L	MSS51_ENST00000299432.2_Silent_p.L417L			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	417			L -> P (in dbSNP:rs11591720).		social behavior (GO:0035176)		metal ion binding (GO:0046872)										GTTCAGGTTTGAGGGACATGA	0.463																																						uc001jud.2		NaN																	0				ovary(1)	1						c.(1249-1251)CTC>CTG		zinc finger, MYND domain containing 17							138.0	127.0	131.0					10																	75184443		2203	4300	6503	SO:0001819	synonymous_variant	118490						zinc ion binding	g.chr10:75184443G>C	AK096884	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343		"""Zinc fingers, MYND-type"""	21000	protein-coding gene	gene with protein product		614773	"""zinc finger, MYND-type containing 17"", ""MSS51 mitochondrial translational activator homolog (S. cerevisiae)"""	ZMYND17		19710419	Standard	NM_001024593		Approved	FLJ39565	uc001jud.3	Q4VC12	OTTHUMG00000018464	ENST00000372912.1:c.1251C>G	10.37:g.75184443G>C						ZMYND17_uc001juc.2_3'UTR|ZMYND17_uc009xrh.2_Silent_p.L440L|ZMYND17_uc009xrg.2_Silent_p.L196L	p.L417L	NM_001024593	NP_001019764	Q4VC12	ZMY17_HUMAN			7	1317	-	Prostate(51;0.0119)		417					A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Silent	SNP	ENST00000372912.1	37	c.1251C>G	CCDS31221.1																																																																																				0.463	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048652.3		NM_178451		51	72	0	0	0	0.01441	0	51	72		
SH3PXD2A	9644	broad.mit.edu	37	10	105361657	105361657	+	Silent	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:105361657A>G	ENST00000369774.4	-	15	3594	c.3318T>C	c.(3316-3318)aaT>aaC	p.N1106N	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Silent_p.N973N|SH3PXD2A_ENST00000355946.2_Silent_p.N1078N|SH3PXD2A_ENST00000538130.1_Silent_p.N941N			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1106	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)	p.P1077fs*9(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ACCACCAGCCATTAGGGTTCC	0.552																																						uc001kxj.1		NaN																	1	Deletion - Frameshift(1)		kidney(1)		0						c.(3232-3234)AAT>AAC		SH3 multiple domains 1							108.0	116.0	113.0					10																	105361657		2203	4300	6503	SO:0001819	synonymous_variant	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105361657A>G	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.3318T>C	10.37:g.105361657A>G						SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Silent_p.N913N|SH3PXD2A_uc010qqt.1_Silent_p.N955N|SH3PXD2A_uc009xxn.1_Silent_p.N913N|SH3PXD2A_uc010qqu.1_Silent_p.N1021N	p.N1078N	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	14	3374	-		Colorectal(252;0.0815)|Breast(234;0.131)	1106			SH3 5.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Silent	SNP	ENST00000369774.4	37	c.3234T>C		.	.	.	.	.	.	.	.	.	.	A	4.482	0.089364	0.08632	.	.	ENSG00000107957	ENST00000420222	.	.	.	5.39	-2.5	0.06384	.	.	.	.	.	T	0.55784	0.1942	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53194	-0.8473	4	.	.	.	-21.8472	11.1155	0.48258	0.5529:0.0:0.4471:0.0	.	.	.	.	R	1033	.	.	W	-	1	0	SH3PXD2A	105351647	0.674000	0.27549	0.989000	0.46669	0.988000	0.76386	-0.036000	0.12185	-0.485000	0.06754	-0.379000	0.06801	TGG		0.552	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1		NM_014631		22	50	0	0	0	0.007291	0	22	50		
INPP5F	22876	broad.mit.edu	37	10	121580377	121580377	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:121580377A>G	ENST00000361976.2	+	16	2072	c.1906A>G	c.(1906-1908)Aga>Gga	p.R636G	INPP5F_ENST00000369080.3_Missense_Mutation_p.R26G|INPP5F_ENST00000490818.1_3'UTR	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	ASH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TGCTACTCACAGAGACGTGGA	0.363																																						uc001leo.2		NaN																	0				ovary(2)	2						c.(1906-1908)AGA>GGA		inositol polyphosphate-5-phosphatase F							227.0	205.0	212.0					10																	121580377		2203	4300	6503	SO:0001583	missense	22876						phosphoric ester hydrolase activity	g.chr10:121580377A>G	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1906A>G	10.37:g.121580377A>G	ENSP00000354519:p.Arg636Gly					INPP5F_uc001lep.2_Missense_Mutation_p.R26G	p.R636G	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	16	2072	+		Lung NSC(174;0.109)|all_lung(145;0.142)	636					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	c.1906A>G	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	A	13.40	2.225558	0.39300	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.44881	1.18;0.91	5.68	3.21	0.36854	.	0.050241	0.85682	D	0.000000	T	0.25680	0.0625	N	0.14661	0.345	0.80722	D	1	B;B	0.22480	0.07;0.009	B;B	0.24006	0.05;0.003	T	0.03278	-1.1053	10	0.23302	T	0.38	-15.5468	12.3251	0.55007	0.7324:0.2676:0.0:0.0	.	26;636	Q5W135;Q9Y2H2	.;SAC2_HUMAN	G	636;26	ENSP00000354519:R636G;ENSP00000358076:R26G	ENSP00000354519:R636G	R	+	1	2	INPP5F	121570367	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.930000	0.56522	0.366000	0.24427	0.383000	0.25322	AGA		0.363	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1		NM_014937		44	87	0	0	0	0.01441	0	44	87		
ACADSB	36	broad.mit.edu	37	10	124800022	124800022	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:124800022G>C	ENST00000358776.4	+	4	358	c.344G>C	c.(343-345)gGa>gCa	p.G115A	ACADSB_ENST00000368869.4_Missense_Mutation_p.G13A|ACADSB_ENST00000496730.2_3'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	115					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	GGAGGCACAGGAGCTTCATTT	0.368																																						uc001lhb.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(343-345)GGA>GCA		acyl-Coenzyme A dehydrogenase, short/branched	L-Isoleucine(DB00167)						105.0	105.0	105.0					10																	124800022		2203	4300	6503	SO:0001583	missense	36				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	g.chr10:124800022G>C	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"""acyl-Coenzyme A dehydrogenase, short/branched chain"""			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.344G>C	10.37:g.124800022G>C	ENSP00000357873:p.Gly115Ala					ACADSB_uc010qub.1_Missense_Mutation_p.G13A	p.G115A	NM_001609	NP_001600	P45954	ACDSB_HUMAN		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	4	461	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	115					B4DQ51|Q5SQN6|Q96CX7	Missense_Mutation	SNP	ENST00000358776.4	37	c.344G>C	CCDS7634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.79|17.79	3.476126|3.476126	0.63737|0.63737	.|.	.|.	ENSG00000196177|ENSG00000196177	ENST00000411816|ENST00000368869;ENST00000358776	.|D;D	.|0.99851	.|-7.17;-7.17	5.68|5.68	4.76|4.76	0.60689|0.60689	.|Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	.|0.053036	.|0.85682	.|D	.|0.000000	D|D	0.99619|0.99619	0.9861|0.9861	M|M	0.88181|0.88181	2.935|2.935	0.80722|0.80722	D|D	1|1	.|P	.|0.38767	.|0.646	.|B	.|0.38225	.|0.268	D|D	0.97308|0.97308	0.9935|0.9935	5|10	.|0.87932	.|D	.|0	.|.	13.731|13.731	0.62787|0.62787	0.0749:0.0:0.9251:0.0|0.0749:0.0:0.9251:0.0	.|.	.|115	.|P45954	.|ACDSB_HUMAN	Q|A	121|13;115	.|ENSP00000357862:G13A;ENSP00000357873:G115A	.|ENSP00000357873:G115A	E|G	+|+	1|2	0|0	ACADSB|ACADSB	124790012|124790012	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.266000|0.266000	0.26442|0.26442	5.518000|5.518000	0.67068|0.67068	1.370000|1.370000	0.46153|0.46153	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.368	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1		NM_001609		41	59	0	0	0	0.00874	0	41	59		
C11orf16	56673	broad.mit.edu	37	11	8947287	8947287	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:8947287C>T	ENST00000326053.5	-	5	1033	c.927G>A	c.(925-927)ttG>ttA	p.L309L	C11orf16_ENST00000525780.1_Silent_p.L309L|C11orf16_ENST00000528998.1_5'Flank	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	309										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CTGTGGGCTCCAACTCTGGAA	0.577																																						uc001mhb.3		NaN																	0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(925-927)TTG>TTA		hypothetical protein LOC56673							84.0	83.0	83.0					11																	8947287		2201	4296	6497	SO:0001819	synonymous_variant	56673							g.chr11:8947287C>T	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.927G>A	11.37:g.8947287C>T						C11orf16_uc001mhc.3_Silent_p.L309L	p.L309L	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	5	1051	-			309					Q53FB2|Q8N6Y9	Silent	SNP	ENST00000326053.5	37	c.927G>A	CCDS7794.1																																																																																				0.577	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1		NM_020643		25	53	0	0	0	0.01892	0	25	53		
SBF2	81846	broad.mit.edu	37	11	10022532	10022532	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:10022532C>A	ENST00000256190.8	-	8	927	c.790G>T	c.(790-792)Gaa>Taa	p.E264*	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	264	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTTAGAACTTCCAGTAGCTGA	0.323																																						uc001mib.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(790-792)GAA>TAA		SET binding factor 2							61.0	60.0	61.0					11																	10022532		2201	4293	6494	SO:0001587	stop_gained	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:10022532C>A	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.790G>T	11.37:g.10022532C>A	ENSP00000256190:p.Glu264*					SBF2_uc001mif.3_Nonsense_Mutation_p.E20*	p.E264*	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	8	928	-			264			DENN.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Nonsense_Mutation	SNP	ENST00000256190.8	37	c.790G>T	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	C	38	7.105915	0.98066	.	.	ENSG00000133812	ENST00000256190	.	.	.	5.58	5.58	0.84498	.	0.192203	0.44285	D	0.000464	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5687	0.95404	0.0:1.0:0.0:0.0	.	.	.	.	X	264	.	.	E	-	1	0	SBF2	9979108	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.476000	0.81055	2.606000	0.88127	0.655000	0.94253	GAA		0.323	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2		NM_030962		13	29	1	0	2.61681e-11	0.020292	2.77877e-11	13	29		
AMPD3	272	broad.mit.edu	37	11	10483070	10483070	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:10483070C>T	ENST00000396554.3	+	2	372	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S	AMPD3_ENST00000444303.2_5'UTR	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	2					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AGCTGAGATGCCGCGGCAGTT	0.552																																						uc001mio.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(4-6)CCG>TCG		adenosine monophosphate deaminase 3 isoform 1B							141.0	147.0	145.0					11																	10483070		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10483070C>T	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.31C>T	11.37:g.10483070C>T	ENSP00000379802:p.Pro11Ser					AMPD3_uc010rbz.1_5'UTR|AMPD3_uc001min.1_Missense_Mutation_p.P11S|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Missense_Mutation_p.P2S|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.P9S|AMPD3_uc009yfy.2_Missense_Mutation_p.P2S	p.P2S	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	2	339	+			2					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.4C>T	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	C	31	5.076638	0.94000	.	.	ENSG00000133805	ENST00000532250;ENST00000396554;ENST00000524866;ENST00000396553;ENST00000528723;ENST00000529507	T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03	5.73	5.73	0.89815	.	0.047405	0.85682	D	0.000000	T	0.78278	0.4258	L	0.59436	1.845	0.80722	D	1	P;D;D	0.89917	0.921;1.0;1.0	B;D;D	0.85130	0.352;0.996;0.997	T	0.78430	-0.2207	10	0.87932	D	0	-24.9609	20.2602	0.98440	0.0:1.0:0.0:0.0	.	9;2;11	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	S	2;11;2;2;9;2	ENSP00000432707:P2S;ENSP00000379802:P11S;ENSP00000433284:P2S;ENSP00000379801:P2S;ENSP00000436987:P9S;ENSP00000431648:P2S	ENSP00000379801:P2S	P	+	1	0	AMPD3	10439646	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.445000	0.80570	2.861000	0.98227	0.655000	0.94253	CCG		0.552	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2		NM_000480		83	120	0	0	0	0.01441	0	83	120		
USH1C	10083	broad.mit.edu	37	11	17538984	17538984	+	Silent	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:17538984A>G	ENST00000318024.4	-	15	1356	c.1248T>C	c.(1246-1248)gaT>gaC	p.D416D	USH1C_ENST00000527720.1_Silent_p.D385D|USH1C_ENST00000527020.1_Silent_p.D397D|USH1C_ENST00000529563.1_5'Flank|USH1C_ENST00000005226.7_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	416					auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CATCCAGGTCATCTGCGGGCT	0.627																																						uc001mnf.2		NaN																	0				ovary(1)	1						c.(1246-1248)GAT>GAC		harmonin isoform a							64.0	44.0	51.0					11																	17538984		2199	4293	6492	SO:0001819	synonymous_variant	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17538984A>G	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1248T>C	11.37:g.17538984A>G						USH1C_uc001mne.2_Intron|USH1C_uc009yhb.2_Silent_p.D397D|USH1C_uc001mng.2_Intron|USH1C_uc001mnd.2_Silent_p.D380D	p.D416D	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN			15	1357	-			416					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	ENST00000318024.4	37	c.1248T>C	CCDS31438.1																																																																																				0.627	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1		NM_005709		3	3	0	0	0	0.004672	0	3	3		
OR4C11	219429	broad.mit.edu	37	11	55371622	55371622	+	Silent	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:55371622G>T	ENST00000302231.4	-	1	252	c.228C>A	c.(226-228)gcC>gcA	p.A76A		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TTAATCTAGGGGCTGTGGAAG	0.398																																						uc010rii.1		NaN																	0				ovary(1)	1						c.(226-228)GCC>GCA		olfactory receptor, family 4, subfamily C,							80.0	76.0	78.0					11																	55371622		2177	4004	6181	SO:0001819	synonymous_variant	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371622G>T	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.228C>A	11.37:g.55371622G>T							p.A76A	NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN			1	228	-			76			Helical; Name=2; (Potential).		B9EIL4|Q8NGL8	Silent	SNP	ENST00000302231.4	37	c.228C>A	CCDS31503.1																																																																																				0.398	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1		NM_001004700		68	67	1	0	1.05635e-38	0.01441	1.19573e-38	68	67		
OR5R1	219479	broad.mit.edu	37	11	56185264	56185264	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:56185264A>G	ENST00000312253.1	-	1	444	c.445T>C	c.(445-447)Tat>Cat	p.Y149H		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					CTGTATATATATGGAACTGCC	0.453																																						uc010rji.1		NaN																	0				ovary(2)	2						c.(445-447)TAT>CAT		olfactory receptor, family 5, subfamily R,							106.0	108.0	108.0					11																	56185264		2201	4296	6497	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185264A>G	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.445T>C	11.37:g.56185264A>G	ENSP00000308595:p.Tyr149His						p.Y149H	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN			1	445	-	Esophageal squamous(21;0.00448)		149			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000312253.1	37	c.445T>C	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	A	9.778	1.174483	0.21704	.	.	ENSG00000174942	ENST00000312253	T	0.38401	1.14	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30269	U	0.010013	T	0.54886	0.1886	M	0.90198	3.095	0.09310	N	1	P	0.36125	0.538	P	0.44921	0.464	T	0.60193	-0.7311	10	0.87932	D	0	-15.4182	11.4669	0.50243	0.8501:0.1499:0.0:0.0	.	149	Q8NH85	OR5R1_HUMAN	H	149	ENSP00000308595:Y149H	ENSP00000308595:Y149H	Y	-	1	0	OR5R1	55941840	0.983000	0.35010	0.057000	0.19452	0.011000	0.07611	6.802000	0.75175	2.265000	0.75225	0.472000	0.43445	TAT		0.453	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1		NM_001004744		39	81	0	0	0	0.021022	0	39	81		
OR6Q1	219952	broad.mit.edu	37	11	57799250	57799250	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:57799250A>C	ENST00000302622.3	+	1	849	c.826A>C	c.(826-828)Aag>Cag	p.K276Q	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CAACTTCAACAAGGTGGTATC	0.488																																						uc010rjz.1		NaN																	0				kidney(1)	1						c.(826-828)AAG>CAG		olfactory receptor, family 6, subfamily Q,							155.0	144.0	148.0					11																	57799250		2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57799250A>C	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.826A>C	11.37:g.57799250A>C	ENSP00000307734:p.Lys276Gln					OR9Q1_uc001nmj.2_Intron	p.K276Q	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN			1	826	+		Breast(21;0.0707)|all_epithelial(135;0.142)	276			Helical; Name=7; (Potential).		B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.826A>C	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	A	18.63	3.666133	0.67700	.	.	ENSG00000172381	ENST00000302622	T	0.00188	8.59	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	N	0.001174	T	0.00271	0.0008	N	0.25890	0.77	0.27112	N	0.962358	P	0.49635	0.926	P	0.54706	0.759	T	0.65837	-0.6071	10	0.54805	T	0.06	.	13.7995	0.63190	1.0:0.0:0.0:0.0	.	276	Q8NGQ2	OR6Q1_HUMAN	Q	276	ENSP00000307734:K276Q	ENSP00000307734:K276Q	K	+	1	0	OR6Q1	57555826	0.543000	0.26434	1.000000	0.80357	0.972000	0.66771	2.415000	0.44635	1.894000	0.54839	0.533000	0.62120	AAG		0.488	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1		NM_001005186		25	161	0	0	0	0.004656	0	25	161		
OR9Q1	219956	broad.mit.edu	37	11	57947275	57947275	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:57947275A>G	ENST00000335397.3	+	3	675	c.359A>G	c.(358-360)tAt>tGt	p.Y120C		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				CTCATGGCCTATGACCGCTAC	0.552																																						uc001nmj.2		NaN																	0				ovary(1)	1						c.(358-360)TAT>TGT		olfactory receptor, family 9, subfamily Q,							120.0	95.0	104.0					11																	57947275		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947275A>G	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.359A>G	11.37:g.57947275A>G	ENSP00000334934:p.Tyr120Cys						p.Y120C	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN			3	675	+		Breast(21;0.222)	120			Helical; Name=3; (Potential).		Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.359A>G	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	A	9.172	1.021440	0.19433	.	.	ENSG00000186509	ENST00000335397	T	0.00490	7.03	4.81	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000569	T	0.00637	0.0021	M	0.90483	3.12	0.38184	D	0.9397	B	0.31548	0.328	B	0.28709	0.093	T	0.54443	-0.8293	10	0.72032	D	0.01	-6.5869	6.4596	0.21948	0.782:0.0:0.0789:0.1391	.	120	Q8NGQ5	OR9Q1_HUMAN	C	120	ENSP00000334934:Y120C	ENSP00000334934:Y120C	Y	+	2	0	OR9Q1	57703851	0.605000	0.26941	0.997000	0.53966	0.447000	0.32167	0.859000	0.27858	0.972000	0.38314	0.459000	0.35465	TAT		0.552	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2		NM_001005212		20	55	0	0	0	0.016522	0	20	55		
FZD4	8322	broad.mit.edu	37	11	86663440	86663440	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:86663440T>G	ENST00000531380.1	-	2	663	c.358A>C	c.(358-360)Atg>Ctg	p.M120L	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	120	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAAAGACACATGCCGCCGCAT	0.478																																						uc001pce.2		NaN																	0				large_intestine(1)	1						c.(358-360)ATG>CTG		frizzled 4 precursor							112.0	121.0	118.0					11																	86663440		2201	4299	6500	SO:0001583	missense	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86663440T>G	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.358A>C	11.37:g.86663440T>G	ENSP00000434034:p.Met120Leu					PRSS23_uc001pcc.1_RNA	p.M120L	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN			2	664	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	120			FZ.|Extracellular (Potential).		A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	ENST00000531380.1	37	c.358A>C	CCDS8279.1	.	.	.	.	.	.	.	.	.	.	T	10.80	1.453836	0.26161	.	.	ENSG00000174804	ENST00000531380	T	0.76839	-1.05	5.82	5.82	0.92795	Frizzled domain (5);	0.000000	0.85682	D	0.000000	T	0.47893	0.1470	N	0.00459	-1.475	0.80722	D	1	B	0.18166	0.026	B	0.25759	0.063	T	0.55373	-0.8151	9	.	.	.	.	16.1832	0.81925	0.0:0.0:0.0:1.0	.	120	Q9ULV1	FZD4_HUMAN	L	120	ENSP00000434034:M120L	.	M	-	1	0	FZD4	86341088	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	8.040000	0.89188	2.228000	0.72767	0.533000	0.62120	ATG		0.478	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2		NM_012193		59	101	0	0	0	0.01441	0	59	101		
ENDOD1	23052	broad.mit.edu	37	11	94861970	94861970	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:94861970G>A	ENST00000278505.4	+	2	848	c.730G>A	c.(730-732)Gac>Aac	p.D244N		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	244						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				CCGGGACAGTGACATCATAGA	0.498																																						uc001pfh.2		NaN																	0					0						c.(730-732)GAC>AAC		endonuclease domain containing 1 precursor							90.0	87.0	88.0					11																	94861970		1937	4138	6075	SO:0001583	missense	23052					extracellular region	endonuclease activity|metal ion binding|nucleic acid binding	g.chr11:94861970G>A	BC026191	CCDS41699.1	11q21	2010-03-19			ENSG00000149218	ENSG00000149218			29129	protein-coding gene	gene with protein product						10048485	Standard	NM_015036		Approved	KIAA0830	uc001pfh.3	O94919	OTTHUMG00000167835	ENST00000278505.4:c.730G>A	11.37:g.94861970G>A	ENSP00000278505:p.Asp244Asn						p.D244N	NM_015036	NP_055851	O94919	ENDD1_HUMAN			2	805	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)	244					A8K6K8|Q6GQY5|Q8TAQ8	Missense_Mutation	SNP	ENST00000278505.4	37	c.730G>A	CCDS41699.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027202	0.35797	.	.	ENSG00000149218	ENST00000278505	T	0.69806	-0.43	5.9	5.9	0.94986	DNA/RNA non-specific endonuclease (1);Extracellular Endonuclease, subunit A (2);	0.416177	0.24165	N	0.040957	T	0.57592	0.2064	L	0.37800	1.135	0.09310	N	1	P	0.36354	0.549	B	0.39805	0.31	T	0.52275	-0.8597	10	0.24483	T	0.36	-18.6912	11.2173	0.48833	0.1096:0.0:0.8904:0.0	.	244	O94919	ENDD1_HUMAN	N	244	ENSP00000278505:D244N	ENSP00000278505:D244N	D	+	1	0	ENDOD1	94501618	0.748000	0.28294	0.047000	0.18901	0.769000	0.43574	4.189000	0.58358	2.800000	0.96347	0.455000	0.32223	GAC		0.498	ENDOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396545.1		NM_015036		23	30	0	0	0	0.021523	0	23	30		
TRPC6	7225	broad.mit.edu	37	11	101374954	101374954	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:101374954T>C	ENST00000344327.3	-	2	1170	c.746A>G	c.(745-747)cAt>cGt	p.H249R	TRPC6_ENST00000348423.4_Missense_Mutation_p.H249R|TRPC6_ENST00000360497.4_Missense_Mutation_p.H249R|TRPC6_ENST00000532133.1_Missense_Mutation_p.H249R|TRPC6_ENST00000526713.1_5'Flank	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	249					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GAAATAATCATGAGGCCGTTC	0.473																																					Colon(166;1315 1927 11094 12848 34731)	uc001pgk.3		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(745-747)CAT>CGT		transient receptor potential cation channel,							124.0	111.0	115.0					11																	101374954		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101374954T>C	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.746A>G	11.37:g.101374954T>C	ENSP00000340913:p.His249Arg					TRPC6_uc009ywy.2_Missense_Mutation_p.H249R|TRPC6_uc009ywz.1_Missense_Mutation_p.H249R	p.H249R	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	2	1171	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	249			Cytoplasmic (Potential).		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.746A>G	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.018606	0.75275	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;T;D	0.83163	-1.55;-1.6;-1.41;-1.69	5.84	5.84	0.93424	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	D	0.92482	0.7613	M	0.89414	3.03	0.80722	D	1	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.91635	0.999;0.996;0.996	D	0.93755	0.7062	10	0.87932	D	0	-20.8228	16.2194	0.82247	0.0:0.0:0.0:1.0	.	249;249;249	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	R	249	ENSP00000340913:H249R;ENSP00000435574:H249R;ENSP00000343672:H249R;ENSP00000353687:H249R	ENSP00000340913:H249R	H	-	2	0	TRPC6	100880164	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	8.040000	0.89188	2.234000	0.73211	0.528000	0.53228	CAT		0.473	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1		NM_004621		16	120	0	0	0	0.003163	0	16	120		
PVRL1	5818	broad.mit.edu	37	11	119535753	119535753	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:119535753C>A	ENST00000264025.3	-	6	1788	c.1258G>T	c.(1258-1260)Gac>Tac	p.D420Y	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	420					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TCTGAGTCGTCGGGGTACTGC	0.632																																						uc001pwv.2		NaN																	0					0						c.(1258-1260)GAC>TAC		poliovirus receptor-related 1 isoform 1							104.0	77.0	86.0					11																	119535753		2198	4293	6491	SO:0001583	missense	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535753C>A	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1258G>T	11.37:g.119535753C>A	ENSP00000264025:p.Asp420Tyr					PVRL1_uc001pwu.1_Intron	p.D420Y	NM_002855	NP_002846	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1430	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	420			Cytoplasmic (Potential).		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	c.1258G>T	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	-	15.49	2.847998	0.51164	.	.	ENSG00000110400	ENST00000264025	T	0.20069	2.1	3.9	3.9	0.45041	.	0.327894	0.30269	N	0.010010	T	0.32255	0.0823	L	0.38175	1.15	0.80722	D	1	D	0.71674	0.998	P	0.58928	0.848	T	0.15435	-1.0437	10	0.87932	D	0	.	15.7712	0.78170	0.0:1.0:0.0:0.0	.	420	Q15223	PVRL1_HUMAN	Y	420	ENSP00000264025:D420Y	ENSP00000264025:D420Y	D	-	1	0	PVRL1	119040963	1.000000	0.71417	0.040000	0.18447	0.428000	0.31595	7.239000	0.78182	2.108000	0.64289	0.479000	0.44913	GAC		0.632	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1				26	50	1	0	1.5548e-18	0.005443	1.68394e-18	26	50		
TP53AIP1	63970	broad.mit.edu	37	11	128807621	128807621	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:128807621G>A	ENST00000531399.1	-	2	302	c.93C>T	c.(91-93)ctC>ctT	p.L31L	TP53AIP1_ENST00000530777.1_Silent_p.L31L|TP53AIP1_ENST00000458238.2_Silent_p.L31L|TP53AIP1_ENST00000602346.1_Silent_p.L31L	NM_022112.2	NP_071395.2	Q9HCN2	TPIP1_HUMAN	tumor protein p53 regulated apoptosis inducing protein 1	31					apoptotic process (GO:0006915)	mitochondrion (GO:0005739)				large_intestine(1)|lung(1)|skin(1)	3						GCATCACCGAGAGGTTCTGGT	0.622																																						uc001qey.2		NaN																	0				lung(1)	1						c.(91-93)CTC>CTT		RecName: Full=p53-regulated apoptosis-inducing protein 1;          Short=p53AIP1;							71.0	69.0	70.0					11																	128807621		2201	4297	6498	SO:0001819	synonymous_variant	63970				apoptosis	mitochondrion		g.chr11:128807621G>A	AB045831	CCDS8480.1, CCDS8480.2, CCDS55797.1, CCDS55798.1, CCDS58195.1	11q24.3	2011-01-26	2009-03-09		ENSG00000120471	ENSG00000120471			29984	protein-coding gene	gene with protein product		605426				11030628, 12019168	Standard	NM_022112		Approved	p53AIP1	uc021qsd.1	Q9HCN2		ENST00000531399.1:c.93C>T	11.37:g.128807621G>A						TP53AIP1_uc001qex.2_Silent_p.L31L|TP53AIP1_uc009zcm.1_RNA	p.L31L			Q9HCN2	TPIP1_HUMAN			2	303	-			31					Q6NT40|Q7Z6F7|Q9HCN0|Q9HCN1	Silent	SNP	ENST00000531399.1	37	c.93C>T	CCDS8480.2																																																																																				0.622	TP53AIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386244.1		NM_022112		17	44	0	0	0	0.008871	0	17	44		
RIMKLB	57494	broad.mit.edu	37	12	8926198	8926198	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:8926198G>A	ENST00000538135.1	+	6	1804	c.979G>A	c.(979-981)Gag>Aag	p.E327K	RIMKLB_ENST00000299673.5_Intron|RIMKLB_ENST00000357529.3_Missense_Mutation_p.E327K|A2ML1-AS1_ENST00000537288.1_RNA|RIMKLB_ENST00000535829.1_Missense_Mutation_p.E327K			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	327					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CACTGCCAGTGAGACTAGTGA	0.597																																						uc001quu.2		NaN																	0					0						c.(979-981)GAG>AAG		ribosomal modification protein rimK-like family							58.0	60.0	59.0					12																	8926198		1947	4139	6086	SO:0001583	missense	57494				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr12:8926198G>A	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.979G>A	12.37:g.8926198G>A	ENSP00000440943:p.Glu327Lys					RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_Missense_Mutation_p.E327K|RIMKLB_uc010sgl.1_Missense_Mutation_p.E327K|RIMKLB_uc001quw.2_Intron	p.E327K	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN			6	1230	+			327					B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	c.979G>A	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754847	0.89843	.	.	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	U	0.000000	T	0.67382	0.2887	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	T	0.63395	-0.6647	8	.	.	.	.	18.4349	0.90642	0.0:0.0:1.0:0.0	.	327	Q9ULI2	RIMKB_HUMAN	K	327	.	.	E	+	1	0	RIMKLB	8817465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.296000	0.96104	2.689000	0.91719	0.591000	0.81541	GAG		0.597	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1		NM_020734		45	35	0	0	0	0.01441	0	45	35		
TAS2R50	259296	broad.mit.edu	37	12	11138589	11138589	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:11138589G>C	ENST00000506868.1	-	1	922	c.871C>G	c.(871-873)Ctt>Gtt	p.L291V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	291					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.L291F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						AAAATCAAAAGAAAGGTGTGT	0.398																																						uc001qzl.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)	2						c.(871-873)CTT>GTT		taste receptor, type 2, member 50							82.0	92.0	89.0					12																	11138589		2202	4300	6502	SO:0001583	missense	259296				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11138589G>C	AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.871C>G	12.37:g.11138589G>C	ENSP00000424040:p.Leu291Val					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.L291V	NM_176890	NP_795371	P59544	T2R50_HUMAN			1	923	-			291			Cytoplasmic (Potential).		P59545|Q2M255|Q645Y0	Missense_Mutation	SNP	ENST00000506868.1	37	c.871C>G	CCDS8638.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271095	0.23221	.	.	ENSG00000212126	ENST00000506868	T	0.38560	1.13	1.29	1.29	0.21616	.	1.327670	0.05674	N	0.589166	T	0.46092	0.1375	M	0.71920	2.185	0.09310	N	1	P	0.51537	0.946	P	0.45712	0.491	T	0.37572	-0.9700	10	0.49607	T	0.09	.	5.8354	0.18605	0.0:0.0:1.0:0.0	.	291	P59544	T2R50_HUMAN	V	291	ENSP00000424040:L291V	ENSP00000424040:L291V	L	-	1	0	TAS2R50	11029856	0.003000	0.15002	0.007000	0.13788	0.235000	0.25334	0.248000	0.18198	0.662000	0.31006	0.313000	0.20887	CTT		0.398	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2		NM_176890		42	126	0	0	0	0.009718	0	42	126		
H2AFJ	55766	broad.mit.edu	37	12	14927572	14927572	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:14927572G>A	ENST00000544848.1	+	1	303	c.168G>A	c.(166-168)ttG>ttA	p.L56L		NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	56						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						CGGCGGTGTTGGAGTACCTTA	0.667																																						uc009zia.2		NaN																	0				ovary(1)	1						c.(166-168)TTG>TTA		H2A histone family, member J							44.0	53.0	50.0					12																	14927572		2203	4300	6503	SO:0001819	synonymous_variant	55766				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:14927572G>A	AK001765	CCDS31752.1	12p12.3	2012-09-11			ENSG00000246705	ENSG00000246705		"""Histones / Replication-independent"""	14456	protein-coding gene	gene with protein product							Standard	NM_177925		Approved	FLJ10903, MGC921	uc009zia.3	Q9BTM1	OTTHUMG00000168736	ENST00000544848.1:c.168G>A	12.37:g.14927572G>A						H2AFJ_uc001rch.3_RNA	p.L56L	NM_177925	NP_808760	Q9BTM1	H2AJ_HUMAN			1	303	+			56					Q9NV63	Silent	SNP	ENST00000544848.1	37	c.168G>A	CCDS31752.1																																																																																				0.667	H2AFJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400845.1		NM_177925		14	44	0	0	0	0.00499	0	14	44		
OVCH1	341350	broad.mit.edu	37	12	29630357	29630357	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:29630357G>T	ENST00000318184.5	-	11	1162	c.1163C>A	c.(1162-1164)gCc>gAc	p.A388D	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	388	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGGAACCATGGCCTCACTGGT	0.423																																						uc001rix.1		NaN																	0				ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(1162-1164)GCC>GAC		ovochymase 1 precursor							130.0	126.0	128.0					12																	29630357		1931	4149	6080	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29630357G>T	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1163C>A	12.37:g.29630357G>T	ENSP00000326708:p.Ala388Asp						p.A388D	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			11	1163	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		388			CUB 1.			Missense_Mutation	SNP	ENST00000318184.5	37	c.1163C>A		.	.	.	.	.	.	.	.	.	.	G	9.027	0.986366	0.18889	.	.	ENSG00000187950	ENST00000318184	T	0.21361	2.01	2.84	1.75	0.24633	CUB (3);	.	.	.	.	T	0.12008	0.0292	N	0.14661	0.345	0.09310	N	1	P	0.36065	0.535	B	0.37346	0.247	T	0.20075	-1.0286	9	0.66056	D	0.02	.	5.0656	0.14580	0.3206:0.0:0.6794:0.0	.	388	Q7RTY7	OVCH1_HUMAN	D	388	ENSP00000326708:A388D	ENSP00000326708:A388D	A	-	2	0	OVCH1	29521624	0.005000	0.15991	0.001000	0.08648	0.002000	0.02628	0.671000	0.25172	0.602000	0.29896	0.655000	0.94253	GCC		0.423	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2		NM_183378		66	51	1	0	3.07184e-27	0.01441	3.40619e-27	66	51		
IPO8	10526	broad.mit.edu	37	12	30829450	30829450	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:30829450G>A	ENST00000256079.4	-	6	1049	c.711C>T	c.(709-711)atC>atT	p.I237I	IPO8_ENST00000544829.1_Silent_p.I32I	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	237					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CGGTCCTGTCGATAATAGTTC	0.428																																						uc001rjd.2		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(709-711)ATC>ATT		importin 8							142.0	125.0	130.0					12																	30829450		2203	4300	6503	SO:0001819	synonymous_variant	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30829450G>A	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.711C>T	12.37:g.30829450G>A						IPO8_uc010sjt.1_Silent_p.I32I	p.I237I	NM_006390	NP_006381	O15397	IPO8_HUMAN			6	881	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		237					B7Z7M3	Silent	SNP	ENST00000256079.4	37	c.711C>T	CCDS8719.1																																																																																				0.428	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2		NM_006390		20	75	0	0	0	0.012319	0	20	75		
CPNE8	144402	broad.mit.edu	37	12	39079368	39079368	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:39079368C>T	ENST00000331366.5	-	16	1291	c.1195G>A	c.(1195-1197)Gct>Act	p.A399T	CPNE8_ENST00000538596.2_Missense_Mutation_p.A68T|CPNE8_ENST00000360449.3_Missense_Mutation_p.A387T	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	399	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CTGTAATAAGCCTCCATGACC	0.398																																						uc001rls.1		NaN																	0				pancreas(1)	1						c.(1195-1197)GCT>ACT		copine VIII							144.0	148.0	147.0					12																	39079368		2203	4300	6503	SO:0001583	missense	144402							g.chr12:39079368C>T	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1195G>A	12.37:g.39079368C>T	ENSP00000329748:p.Ala399Thr					CPNE8_uc001rlr.1_Missense_Mutation_p.A58T	p.A399T	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN			16	1279	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	399			VWFA.		Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	37	c.1195G>A	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165401	0.94768	.	.	ENSG00000139117	ENST00000331366;ENST00000538596;ENST00000360449	T;T;T	0.22743	1.94;1.94;1.94	4.8	4.8	0.61643	von Willebrand factor, type A (2);Copine (1);	0.000000	0.85682	D	0.000000	T	0.49695	0.1572	M	0.82823	2.61	0.80722	D	1	D	0.58620	0.983	D	0.67900	0.954	T	0.53373	-0.8448	10	0.52906	T	0.07	-19.0484	17.5387	0.87841	0.0:1.0:0.0:0.0	.	399	Q86YQ8	CPNE8_HUMAN	T	399;68;387	ENSP00000329748:A399T;ENSP00000439237:A68T;ENSP00000353633:A387T	ENSP00000329748:A399T	A	-	1	0	CPNE8	37365635	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	5.432000	0.66514	2.596000	0.87737	0.655000	0.94253	GCT		0.398	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1		NM_153634		18	228	0	0	0	0.006122	0	18	228		
KIF21A	55605	broad.mit.edu	37	12	39730987	39730987	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:39730987T>C	ENST00000361418.5	-	17	2344	c.2329A>G	c.(2329-2331)Atg>Gtg	p.M777V	KIF21A_ENST00000541463.2_Missense_Mutation_p.M764V|KIF21A_ENST00000395670.3_Missense_Mutation_p.M777V|KIF21A_ENST00000544797.2_Missense_Mutation_p.M764V|KIF21A_ENST00000361961.3_Missense_Mutation_p.M764V			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	777					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCTTCTTTCATTTGTTTCATT	0.348																																						uc001rly.2		NaN																	0				ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(2329-2331)ATG>GTG		kinesin family member 21A							155.0	138.0	144.0					12																	39730987		2203	4298	6501	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39730987T>C	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2329A>G	12.37:g.39730987T>C	ENSP00000354878:p.Met777Val					KIF21A_uc001rlw.2_Missense_Mutation_p.M94V|KIF21A_uc001rlx.2_Missense_Mutation_p.M764V|KIF21A_uc001rlz.2_Missense_Mutation_p.M764V|KIF21A_uc010skl.1_Missense_Mutation_p.M764V	p.M777V	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			17	2475	-		Lung NSC(34;0.179)|all_lung(34;0.213)	777					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.2329A>G	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.019924	0.75275	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000004	T	0.48696	0.1514	M	0.81112	2.525	0.53688	D	0.999977	P;B;D;P;D	0.61080	0.917;0.452;0.989;0.917;0.988	D;P;D;D;D	0.74348	0.915;0.557;0.983;0.915;0.981	T	0.53947	-0.8366	10	0.72032	D	0.01	.	14.5444	0.68017	0.0:0.0:0.0:1.0	.	764;764;777;764;777	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3	.;.;KI21A_HUMAN;.;.	V	764;777;777;764;777;764	ENSP00000354851:M764V;ENSP00000379029:M777V;ENSP00000445606:M764V;ENSP00000354878:M777V;ENSP00000438075:M764V	ENSP00000344501:M777V	M	-	1	0	KIF21A	38017254	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.292000	0.78731	2.033000	0.60031	0.528000	0.53228	ATG		0.348	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1		NM_017641		44	93	0	0	0	0.010771	0	44	93		
PDZRN4	29951	broad.mit.edu	37	12	41967486	41967486	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:41967486G>A	ENST00000402685.2	+	10	2913	c.2905G>A	c.(2905-2907)Gag>Aag	p.E969K	PDZRN4_ENST00000539469.2_Missense_Mutation_p.E711K|PDZRN4_ENST00000298919.7_Missense_Mutation_p.E709K	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	969							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAGCAGGTTAGAGTGTCTCAA	0.498																																						uc010skn.1		NaN																	0				lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(2308-2310)GAG>AAG		PDZ domain containing RING finger 4 isoform 2							65.0	61.0	62.0					12																	41967486		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967486G>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2905G>A	12.37:g.41967486G>A	ENSP00000384197:p.Glu969Lys					PDZRN4_uc001rmq.3_Missense_Mutation_p.E711K|PDZRN4_uc009zjz.2_Missense_Mutation_p.E709K|PDZRN4_uc001rmr.2_Missense_Mutation_p.E596K	p.E770K	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	2376	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	969					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.2308G>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159401	0.57368	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.76060	-0.99;-0.99;-0.99	4.9	4.0	0.46444	.	0.069486	0.64402	D	0.000016	T	0.74458	0.3719	L	0.55481	1.735	0.80722	D	1	P;B;P	0.41784	0.762;0.354;0.539	B;B;B	0.44133	0.275;0.442;0.442	T	0.78505	-0.2178	10	0.72032	D	0.01	-31.3588	15.9376	0.79723	0.0:0.136:0.864:0.0	.	969;709;711	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	K	969;711;709	ENSP00000384197:E969K;ENSP00000439990:E711K;ENSP00000298919:E709K	ENSP00000298919:E709K	E	+	1	0	PDZRN4	40253753	1.000000	0.71417	0.871000	0.34182	0.252000	0.25951	9.813000	0.99286	1.367000	0.46095	-0.310000	0.09108	GAG		0.498	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1		NM_013377		14	25	0	0	0	0.020292	0	14	25		
RACGAP1	29127	broad.mit.edu	37	12	50384549	50384549	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:50384549G>A	ENST00000427314.2	-	18	1964	c.1741C>T	c.(1741-1743)Cct>Tct	p.P581S	RACGAP1_ENST00000434422.1_Missense_Mutation_p.P581S|RACGAP1_ENST00000548961.1_Intron|RACGAP1_ENST00000551016.1_Missense_Mutation_p.P581S|RACGAP1_ENST00000454520.2_Missense_Mutation_p.P581S|RACGAP1_ENST00000547905.1_Missense_Mutation_p.P581S|RACGAP1_ENST00000312377.5_Missense_Mutation_p.P581S	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TGATGTTCAGGAGTGGTCACA	0.438																																						uc001rvt.2		NaN																	0				kidney(1)	1						c.(1741-1743)CCT>TCT		Rac GTPase activating protein 1							94.0	95.0	95.0					12																	50384549		2203	4300	6503	SO:0001583	missense	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50384549G>A		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.1741C>T	12.37:g.50384549G>A	ENSP00000404190:p.Pro581Ser					RACGAP1_uc009zlm.1_Missense_Mutation_p.P581S|RACGAP1_uc001rvs.2_Missense_Mutation_p.P581S|RACGAP1_uc001rvu.2_Missense_Mutation_p.P581S	p.P581S	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN			18	2051	-			581						Missense_Mutation	SNP	ENST00000427314.2	37	c.1741C>T	CCDS8795.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705788	0.89018	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905	T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.62841	0.2461	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	T	0.62558	-0.6829	10	0.46703	T	0.11	-13.2616	19.623	0.95667	0.0:0.0:1.0:0.0	.	581	Q9H0H5	RGAP1_HUMAN	S	581	ENSP00000404190:P581S;ENSP00000309871:P581S;ENSP00000413241:P581S;ENSP00000404808:P581S;ENSP00000449374:P581S;ENSP00000449370:P581S	ENSP00000309871:P581S	P	-	1	0	RACGAP1	48670816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.396000	0.97270	2.702000	0.92279	0.655000	0.94253	CCT		0.438	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1		NM_013277		28	87	0	0	0	0.008361	0	28	87		
DIP2B	57609	broad.mit.edu	37	12	51090911	51090911	+	Silent	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:51090911C>A	ENST00000301180.5	+	17	2035	c.2001C>A	c.(1999-2001)atC>atA	p.I667I		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	667						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CTGAGGCCATCTGTCCGTGCG	0.498																																						uc001rwv.2		NaN																	0				ovary(4)|breast(1)|pancreas(1)	6						c.(1999-2001)ATC>ATA		DIP2 disco-interacting protein 2 homolog B							124.0	95.0	105.0					12																	51090911		2203	4300	6503	SO:0001819	synonymous_variant	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51090911C>A	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.2001C>A	12.37:g.51090911C>A						DIP2B_uc009zlt.2_Silent_p.I97I	p.I667I	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			17	2157	+			667					Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	c.2001C>A	CCDS31799.1																																																																																				0.498	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1		NM_173602		7	29	1	0	2.0095e-06	0.001984	2.06005e-06	7	29		
ESPL1	9700	broad.mit.edu	37	12	53676162	53676162	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:53676162C>G	ENST00000257934.4	+	14	2825	c.2734C>G	c.(2734-2736)Ctt>Gtt	p.L912V	ESPL1_ENST00000552462.1_Missense_Mutation_p.L912V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	912					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGCAGCTTACCTTAGCCTCCC	0.577																																					Colon(53;1069 1201 2587 5382)	uc001sck.2		NaN																	0				lung(1)|kidney(1)|skin(1)	3						c.(2734-2736)CTT>GTT		separase							117.0	94.0	102.0					12																	53676162		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53676162C>G	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.2734C>G	12.37:g.53676162C>G	ENSP00000257934:p.Leu912Val					ESPL1_uc001scj.2_Missense_Mutation_p.L587V|ESPL1_uc010soe.1_Missense_Mutation_p.L123V	p.L912V	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			14	2825	+			912						Missense_Mutation	SNP	ENST00000257934.4	37	c.2734C>G	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027418	0.54683	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.27720	1.65;1.65	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.55657	0.1934	M	0.76002	2.32	0.44627	D	0.997601	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	T	0.60276	-0.7295	10	0.87932	D	0	.	14.8085	0.69977	0.0:1.0:0.0:0.0	.	123;912	B4DRU1;Q14674	.;ESPL1_HUMAN	V	912;587;912	ENSP00000257934:L912V;ENSP00000449831:L912V	ENSP00000257934:L912V	L	+	1	0	ESPL1	51962429	1.000000	0.71417	0.998000	0.56505	0.528000	0.34623	4.820000	0.62671	2.470000	0.83445	0.555000	0.69702	CTT		0.577	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2		NM_012291		22	64	0	0	0	0.014323	0	22	64		
TPH2	121278	broad.mit.edu	37	12	72388270	72388270	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:72388270G>A	ENST00000333850.3	+	8	1134	c.993G>A	c.(991-993)aaG>aaA	p.K331K		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	331					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CGGATCCTAAGTTTGCTCAGT	0.403																																						uc009zrw.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(991-993)AAG>AAA		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						152.0	148.0	149.0					12																	72388270		2203	4300	6503	SO:0001819	synonymous_variant	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72388270G>A	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.993G>A	12.37:g.72388270G>A						TPH2_uc001swy.2_Silent_p.K241K	p.K331K	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN			8	1134	+			331					A6NGA4|Q14CB0	Silent	SNP	ENST00000333850.3	37	c.993G>A	CCDS31859.1																																																																																				0.403	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1		NM_173353		31	132	0	0	0	0.015359	0	31	132		
PITPNM2	57605	broad.mit.edu	37	12	123471235	123471235	+	Silent	SNP	C	C	T	rs147680163		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:123471235C>T	ENST00000542749.1	-	22	3618	c.3555G>A	c.(3553-3555)ccG>ccA	p.P1185P	PITPNM2_ENST00000280562.5_Silent_p.P1179P|PITPNM2_ENST00000320201.4_Silent_p.P1185P|PITPNM2_ENST00000392428.1_Silent_p.P906P			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	1185					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGTGCCGCAGCGGGTCATGCA	0.687													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16633	0.0		0.0	False		,,,				2504	0.0					uc001uej.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3553-3555)CCG>CCA		phosphatidylinositol transfer protein,		C		17,4389	24.3+/-50.5	1,15,2187	44.0	42.0	43.0		3555	-6.4	0.9	12	dbSNP_134	43	0,8600		0,0,4300	no	coding-synonymous	PITPNM2	NM_020845.2		1,15,6487	TT,TC,CC		0.0,0.3858,0.1307		1185/1350	123471235	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123471235C>T	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.3555G>A	12.37:g.123471235C>T						PITPNM2_uc001uek.1_Silent_p.P1179P	p.P1185P	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	23	3694	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1185					Q9P271	Silent	SNP	ENST00000542749.1	37	c.3555G>A	CCDS9242.1																																																																																				0.687	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1		NM_020845		3	19	0	0	0	0.009096	0	3	19		
KATNAL1	84056	broad.mit.edu	37	13	30829724	30829724	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr13:30829724G>A	ENST00000380615.3	-	4	519	c.352C>T	c.(352-354)Cga>Tga	p.R118*	KATNAL1_ENST00000380617.3_Nonsense_Mutation_p.R118*	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1											autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		CTTACTTCTCGATTGGGACGC	0.388																																						uc001uss.2		NaN																	0					0						c.(352-354)CGA>TGA		katanin p60 subunit A-like 1							156.0	163.0	161.0					13																	30829724		2203	4300	6503	SO:0001587	stop_gained	84056					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr13:30829724G>A	AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"""ATPases / AAA-type"""	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.352C>T	13.37:g.30829724G>A	ENSP00000369989:p.Arg118*					KATNAL1_uc001ust.2_Nonsense_Mutation_p.R118*	p.R118*	NM_001014380	NP_001014402	Q9BW62	KATL1_HUMAN		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)	4	453	-		Lung SC(185;0.0257)	118						Nonsense_Mutation	SNP	ENST00000380615.3	37	c.352C>T	CCDS31956.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638668	0.87760	.	.	ENSG00000102781	ENST00000380615;ENST00000380617;ENST00000414289;ENST00000441394	.	.	.	5.8	5.8	0.92144	.	0.515079	0.21134	N	0.079594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6044	14.5044	0.67743	0.0:0.0:0.8532:0.1468	.	.	.	.	X	118	.	ENSP00000369989:R118X	R	-	1	2	KATNAL1	29727724	1.000000	0.71417	0.993000	0.49108	0.958000	0.62258	2.238000	0.43070	2.741000	0.93983	0.650000	0.86243	CGA		0.388	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044346.2		NM_032116		176	78	0	0	0	0.01441	0	176	78		
BRCA2	675	broad.mit.edu	37	13	32929379	32929379	+	Silent	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr13:32929379T>C	ENST00000380152.3	+	14	7622	c.7389T>C	c.(7387-7389)aaT>aaC	p.N2463N	BRCA2_ENST00000544455.1_Silent_p.N2463N			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2463	Interaction with FANCD2.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ACAACTCCAATCAAGCAGTAG	0.323			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NaN	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(7387-7389)AAT>AAC	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							51.0	48.0	49.0					13																	32929379		2203	4299	6502	SO:0001819	synonymous_variant	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32929379T>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.7389T>C	13.37:g.32929379T>C		TCGA Ovarian(8;0.087)					p.N2463N	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	14	7616	+		Lung SC(185;0.0262)	2463			Interaction with FANCD2.		O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	c.7389T>C	CCDS9344.1																																																																																				0.323	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		NM_000059		20	37	0	0	0	0.008871	0	20	37		
TDRD3	81550	broad.mit.edu	37	13	61057916	61057916	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr13:61057916C>G	ENST00000196169.3	+	6	1012	c.224C>G	c.(223-225)tCa>tGa	p.S75*	TDRD3_ENST00000535286.1_Nonsense_Mutation_p.S168*|TDRD3_ENST00000377894.2_Nonsense_Mutation_p.S75*|TDRD3_ENST00000377881.2_Nonsense_Mutation_p.S75*	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	75					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CAGAGCTTATCAAAACACAAT	0.348																																					Colon(36;164 906 35820 50723)	uc001via.2		NaN																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(223-225)TCA>TGA		tudor domain containing 3 isoform 2							136.0	135.0	136.0					13																	61057916		2203	4300	6503	SO:0001587	stop_gained	81550				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	g.chr13:61057916C>G	AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.224C>G	13.37:g.61057916C>G	ENSP00000196169:p.Ser75*					TDRD3_uc010aef.2_Translation_Start_Site|TDRD3_uc001vhz.3_Nonsense_Mutation_p.S75*|TDRD3_uc010aeg.2_Nonsense_Mutation_p.S168*|TDRD3_uc001vib.3_Nonsense_Mutation_p.S75*	p.S75*	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN		GBM - Glioblastoma multiforme(99;0.000291)	6	1012	+		Prostate(109;0.173)|Breast(118;0.174)	75					B2MWP9|Q53XA6|Q6P992	Nonsense_Mutation	SNP	ENST00000196169.3	37	c.224C>G	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	C	37	6.215578	0.97385	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286;ENST00000377882	.	.	.	5.84	4.09	0.47781	.	0.264235	0.37857	N	0.001905	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-3.9502	10.6584	0.45688	0.0:0.8413:0.0:0.1587	.	.	.	.	X	75;75;75;168;75	.	ENSP00000196169:S75X	S	+	2	0	TDRD3	59955917	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.054000	0.57434	0.788000	0.33755	0.557000	0.71058	TCA		0.348	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2		NM_030794		46	128	0	0	0	0.01441	0	46	128		
FAM179B	23116	broad.mit.edu	37	14	45432544	45432544	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr14:45432544A>G	ENST00000361577.3	+	1	1134	c.920A>G	c.(919-921)tAc>tGc	p.Y307C	KLHL28_ENST00000396128.4_5'Flank|KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.Y307C|FAM179B_ENST00000361462.2_Missense_Mutation_p.Y307C|KLHL28_ENST00000355081.2_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	307										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGGAGACACTACAATCGCCGC	0.502																																						uc001wvv.2		NaN																	0				skin(2)|upper_aerodigestive_tract(1)	3						c.(919-921)TAC>TGC		hypothetical protein LOC23116							63.0	68.0	66.0					14																	45432544		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45432544A>G	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.920A>G	14.37:g.45432544A>G	ENSP00000355045:p.Tyr307Cys					FAM179B_uc001wvw.2_Missense_Mutation_p.Y307C|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.Y307C|FAM179B_uc001wvu.2_Missense_Mutation_p.Y307C	p.Y307C	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN			1	1129	+			307					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.920A>G	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	A	11.57	1.676970	0.29783	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.58358	0.34;0.34;0.34	4.79	4.79	0.61399	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.44097	D	0.000486	T	0.52869	0.1761	N	0.12182	0.205	0.36208	D	0.851151	P;D;D;P	0.89917	0.627;1.0;1.0;0.627	B;D;D;B	0.85130	0.139;0.997;0.994;0.139	T	0.64807	-0.6320	10	0.62326	D	0.03	-5.761	10.6495	0.45640	1.0:0.0:0.0:0.0	.	307;307;307;307	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	C	307	ENSP00000355045:Y307C;ENSP00000354917:Y307C;ENSP00000371668:Y307C	ENSP00000354917:Y307C	Y	+	2	0	FAM179B	44502294	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.293000	0.51779	2.005000	0.58758	0.459000	0.35465	TAC		0.502	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1		XM_113781		33	64	0	0	0	0.019004	0	33	64		
PTGER2	5732	broad.mit.edu	37	14	52781858	52781858	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr14:52781858C>G	ENST00000245457.5	+	1	746	c.592C>G	c.(592-594)Cag>Gag	p.Q198E	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	198					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	CGCTTACCTGCAGCTGTACGC	0.627																																						uc001wzr.2		NaN																	0				lung(1)|breast(1)	2						c.(592-594)CAG>GAG		prostaglandin E receptor 2 (subtype EP2), 53kDa	Alprostadil(DB00770)|Iloprost(DB01088)						65.0	55.0	58.0					14																	52781858		2203	4300	6503	SO:0001583	missense	5732					integral to plasma membrane	prostaglandin E receptor activity	g.chr14:52781858C>G		CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"""GPCR / Class A : Prostanoid receptors"""	9594	protein-coding gene	gene with protein product		176804	"""prostaglandin E receptor 2 (subtype EP2), 53kD"""			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.592C>G	14.37:g.52781858C>G	ENSP00000245457:p.Gln198Glu						p.Q198E	NM_000956	NP_000947	P43116	PE2R2_HUMAN			1	843	+	Breast(41;0.0639)|all_epithelial(31;0.0729)		198			Extracellular (Potential).		D3DSC0|Q52LG8	Missense_Mutation	SNP	ENST00000245457.5	37	c.592C>G	CCDS9708.1	.	.	.	.	.	.	.	.	.	.	C	3.764	-0.049066	0.07407	.	.	ENSG00000125384	ENST00000245457	T	0.72051	-0.62	4.99	3.02	0.34903	GPCR, rhodopsin-like superfamily (1);	0.444083	0.25313	N	0.031580	T	0.63355	0.2504	L	0.55481	1.735	0.22001	N	0.999425	B	0.28783	0.222	B	0.27887	0.084	T	0.51052	-0.8754	10	0.30854	T	0.27	-3.9333	11.9164	0.52767	0.3717:0.6283:0.0:0.0	.	198	P43116	PE2R2_HUMAN	E	198	ENSP00000245457:Q198E	ENSP00000245457:Q198E	Q	+	1	0	PTGER2	51851608	0.286000	0.24305	0.995000	0.50966	0.381000	0.30169	0.448000	0.21726	0.481000	0.27557	0.563000	0.77884	CAG		0.627	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1				3	31	0	0	0	0.014758	0	3	31		
SAMD15	161394	broad.mit.edu	37	14	77845304	77845304	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr14:77845304G>C	ENST00000216471.4	+	1	1829	c.1543G>C	c.(1543-1545)Gat>Cat	p.D515H	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	515										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGAAGTTGTAGATTTGTCCCA	0.413																																						uc001xtq.1		NaN																	0					0						c.(1543-1545)GAT>CAT		hypothetical protein LOC161394							98.0	95.0	96.0					14																	77845304		2203	4300	6503	SO:0001583	missense	161394							g.chr14:77845304G>C	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1543G>C	14.37:g.77845304G>C	ENSP00000216471:p.Asp515His					TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	p.D515H	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)	1	1543	+			515					Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	c.1543G>C	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047651	0.36085	.	.	ENSG00000100583	ENST00000216471	T	0.19532	2.14	4.85	3.01	0.34805	.	0.498930	0.14973	N	0.287661	T	0.27205	0.0667	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	P	0.61328	0.887	T	0.06144	-1.0843	10	0.56958	D	0.05	-7.2925	7.4754	0.27374	0.2016:0.0:0.7984:0.0	.	515	Q9P1V8	SAM15_HUMAN	H	515	ENSP00000216471:D515H	ENSP00000216471:D515H	D	+	1	0	SAMD15	76915057	0.001000	0.12720	0.010000	0.14722	0.004000	0.04260	0.716000	0.25836	0.467000	0.27218	-0.291000	0.09656	GAT		0.413	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2		NM_001010860		37	67	0	0	0	0.005524	0	37	67		
GPR68	8111	broad.mit.edu	37	14	91700947	91700947	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr14:91700947G>T	ENST00000531499.2	-	2	787	c.448C>A	c.(448-450)Ctg>Atg	p.L150M	GPR68_ENST00000238699.3_Missense_Mutation_p.L160M|GPR68_ENST00000529300.1_5'Flank|GPR68_ENST00000535815.1_Missense_Mutation_p.L150M			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	150					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CTGGTCAGCAGCTCCTTGGCC	0.637																																						uc001xzg.2		NaN																	0				kidney(1)	1						c.(448-450)CTG>ATG		G protein-coupled receptor 68							77.0	56.0	63.0					14																	91700947		2203	4300	6503	SO:0001583	missense	8111				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:91700947G>T	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"""GPCR / Class A : Orphans"""	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.448C>A	14.37:g.91700947G>T	ENSP00000434045:p.Leu150Met					GPR68_uc001xzh.2_Missense_Mutation_p.L160M	p.L150M	NM_003485	NP_003476	Q15743	OGR1_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	2	789	-		all_cancers(154;0.0555)	150			Helical; Name=4; (Potential).		Q13334|Q4VBB4|Q6IX34	Missense_Mutation	SNP	ENST00000531499.2	37	c.448C>A	CCDS9894.2	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951606	0.53186	.	.	ENSG00000119714	ENST00000531499;ENST00000238699;ENST00000535815;ENST00000529102	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.250171	0.30003	N	0.010644	T	0.46014	0.1371	L	0.37697	1.125	0.39122	D	0.961679	P;P	0.50369	0.934;0.934	P;P	0.55615	0.78;0.78	T	0.37526	-0.9702	10	0.33940	T	0.23	.	11.8545	0.52429	0.0:0.0:0.7002:0.2998	.	150;150	Q6NWR5;Q15743	.;OGR1_HUMAN	M	150;160;150;150	ENSP00000434045:L150M;ENSP00000238699:L160M;ENSP00000440797:L150M;ENSP00000432740:L150M	ENSP00000238699:L160M	L	-	1	2	GPR68	90770700	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.572000	0.45999	2.369000	0.80426	0.555000	0.69702	CTG		0.637	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395245.2				11	15	1	0	4.68919e-08	0.008291	4.85294e-08	11	15		
ATG2B	55102	broad.mit.edu	37	14	96757944	96757944	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr14:96757944G>A	ENST00000359933.4	-	38	6465	c.5572C>T	c.(5572-5574)Cga>Tga	p.R1858*	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1858					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TACCCATGTCGATAGGAAAGC	0.348																																						uc001yfi.2		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(5572-5574)CGA>TGA		ATG2 autophagy related 2 homolog B							92.0	98.0	96.0					14																	96757944		2203	4300	6503	SO:0001587	stop_gained	55102							g.chr14:96757944G>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.5572C>T	14.37:g.96757944G>A	ENSP00000353010:p.Arg1858*						p.R1858*	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	38	5937	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1858					Q6ZRE7|Q96DQ3|Q9NW80	Nonsense_Mutation	SNP	ENST00000359933.4	37	c.5572C>T	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	52	19.140926	0.99915	.	.	ENSG00000066739	ENST00000359933	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.4502	0.90700	0.0:0.0:1.0:0.0	.	.	.	.	X	1858	.	ENSP00000261834:R502X	R	-	1	2	ATG2B	95827697	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.140000	0.50585	2.636000	0.89361	0.655000	0.94253	CGA		0.348	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1		NM_018036		41	180	0	0	0	0.011902	0	41	180		
MGA	23269	broad.mit.edu	37	15	41961492	41961492	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr15:41961492C>T	ENST00000570161.1	+	1	400	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C	MGA_ENST00000566586.1_Missense_Mutation_p.R134C|MGA_ENST00000568630.1_Intron|MGA_ENST00000545763.1_Missense_Mutation_p.R134C|MGA_ENST00000219905.7_Missense_Mutation_p.R134C|MGA_ENST00000389936.4_Missense_Mutation_p.R134C			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGATAACCATCGTTATAAGTG	0.418																																						uc001zog.1		NaN																	0				ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(400-402)CGT>TGT		MAX-interacting protein isoform 2							263.0	259.0	261.0					15																	41961492		1871	4098	5969	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41961492C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.400C>T	15.37:g.41961492C>T	ENSP00000457035:p.Arg134Cys					MGA_uc010ucy.1_Missense_Mutation_p.R134C|MGA_uc010ucz.1_Missense_Mutation_p.R134C	p.R134C	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	2	491	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	134			T-box.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.400C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938035	0.73557	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.92495	-3.05;-3.05;-3.05	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.97427	0.9158	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	D	0.97999	1.0359	10	0.87932	D	0	.	19.7987	0.96497	0.0:1.0:0.0:0.0	.	134;134	F5H7K2;E7ENI0	.;.	C	134	ENSP00000219905:R134C;ENSP00000374586:R134C;ENSP00000442467:R134C	ENSP00000219905:R134C	R	+	1	0	MGA	39748784	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.919000	0.56439	2.767000	0.95098	0.655000	0.94253	CGT		0.418	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1		NM_001164273.1		130	245	0	0	0	0.01441	0	130	245		
FBN1	2200	broad.mit.edu	37	15	48776085	48776085	+	Missense_Mutation	SNP	A	A	T	rs140596		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr15:48776085A>T	ENST00000316623.5	-	31	4223	c.3768T>A	c.(3766-3768)aaT>aaA	p.N1256K		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1256	EGF-like 20; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTCCAGGGATATTTGTGCACT	0.398																																						uc001zwx.1		NaN																	0				ovary(2)|large_intestine(1)	3						c.(3766-3768)AAT>AAA		fibrillin 1 precursor							153.0	118.0	130.0					15																	48776085		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48776085A>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3768T>A	15.37:g.48776085A>T	ENSP00000325527:p.Asn1256Lys						p.N1256K	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	31	4096	-		all_lung(180;0.00279)	1256			EGF-like 20; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.3768T>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.274230	0.59649	.	.	ENSG00000166147	ENST00000316623	D	0.98792	-5.14	6.17	4.23	0.50019	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99372	0.9779	H	0.96805	3.885	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	D	0.98630	1.0671	10	0.87932	D	0	.	12.0355	0.53423	0.1618:0.0:0.8382:0.0	.	1256	P35555	FBN1_HUMAN	K	1256	ENSP00000325527:N1256K	ENSP00000325527:N1256K	N	-	3	2	FBN1	46563377	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.983000	0.40648	0.846000	0.35142	-0.256000	0.11100	AAT		0.398	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1				57	66	0	0	0	0.01441	0	57	66		
FAM214A	56204	broad.mit.edu	37	15	52901214	52901214	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr15:52901214T>C	ENST00000261844.7	-	6	2049	c.1897A>G	c.(1897-1899)Atg>Gtg	p.M633V	FAM214A_ENST00000546305.2_Missense_Mutation_p.M640V	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	633																	CCATTGCTCATTTCTTGCTCC	0.303																																						uc002acg.3		NaN																	0					0						c.(1897-1899)ATG>GTG		hypothetical protein LOC56204							132.0	132.0	132.0					15																	52901214		1823	4076	5899	SO:0001583	missense	56204							g.chr15:52901214T>C	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1897A>G	15.37:g.52901214T>C	ENSP00000261844:p.Met633Val					KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Missense_Mutation_p.M545V|KIAA1370_uc010ugf.1_Missense_Mutation_p.M640V	p.M633V	NM_019600	NP_062546	Q32MH5	K1370_HUMAN		all cancers(107;0.0803)	6	2050	-			633					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.1897A>G	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	T	4.287	0.052458	0.08291	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.27890	1.64;1.64	6.07	2.19	0.27852	.	0.636778	0.15888	N	0.239703	T	0.12689	0.0308	N	0.14661	0.345	0.18873	N	0.999986	B;B	0.11235	0.004;0.003	B;B	0.10450	0.005;0.001	T	0.36648	-0.9739	10	0.02654	T	1	.	4.8128	0.13351	0.1262:0.2388:0.0:0.6349	.	640;633	F5H8G0;Q32MH5	.;K1370_HUMAN	V	633;633;632;640	ENSP00000261844:M633V;ENSP00000443598:M640V	ENSP00000261844:M633V	M	-	1	0	KIAA1370	50688506	0.395000	0.25254	0.053000	0.19242	0.520000	0.34377	0.582000	0.23834	0.096000	0.17463	0.533000	0.62120	ATG		0.303	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1		NM_019600		44	170	0	0	0	0.01441	0	44	170		
UNC13C	440279	broad.mit.edu	37	15	54306851	54306851	+	Missense_Mutation	SNP	G	G	T	rs370428263		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr15:54306851G>T	ENST00000260323.11	+	1	1751	c.1751G>T	c.(1750-1752)cGg>cTg	p.R584L	UNC13C_ENST00000545554.1_Missense_Mutation_p.R584L|UNC13C_ENST00000537900.1_Missense_Mutation_p.R584L	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	584					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCTTCGGACCGGGAGCTATGG	0.453																																						uc002ack.2		NaN																	0				ovary(5)|pancreas(2)	7						c.(1750-1752)CGG>CTG		unc-13 homolog C							76.0	73.0	74.0					15																	54306851		1906	4118	6024	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54306851G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1751G>T	15.37:g.54306851G>T	ENSP00000260323:p.Arg584Leu						p.R584L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1751	+			584					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.1751G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.023479	0.35701	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.81247	-1.47;-1.47;-1.47	5.17	4.25	0.50352	.	.	.	.	.	T	0.69242	0.3089	L	0.27053	0.805	0.32934	D	0.517563	B	0.32203	0.36	B	0.25987	0.065	T	0.76575	-0.2909	9	0.87932	D	0	.	12.6795	0.56914	0.0789:0.0:0.9211:0.0	.	584	Q8NB66	UN13C_HUMAN	L	584	ENSP00000260323:R584L;ENSP00000438156:R584L;ENSP00000442569:R584L	ENSP00000260323:R584L	R	+	2	0	UNC13C	52094143	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	4.889000	0.63171	1.411000	0.46957	0.655000	0.94253	CGG		0.453	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3		NM_173166		21	48	1	0	1.87028e-06	0.012319	1.92338e-06	21	48		
RPLP1	6176	broad.mit.edu	37	15	69746006	69746006	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr15:69746006C>T	ENST00000260379.6	+	2	258	c.93C>T	c.(91-93)ctC>ctT	p.L31L	RPLP1_ENST00000357790.5_Intron|RPLP1_ENST00000560274.1_Intron	NM_001003.2	NP_000994.1	P05386	RLA1_HUMAN	ribosomal protein, large, P1	31					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			ovary(1)	1						TCAATGCCCTCATTAAAGCAG	0.418																																						uc002asd.1		NaN																	0					0						c.(91-93)CTC>CTT		ribosomal protein P1 isoform 1							252.0	220.0	230.0					15																	69746006		2199	4298	6497	SO:0001819	synonymous_variant	6176				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr15:69746006C>T		CCDS10233.1, CCDS10234.1	15q22	2011-07-29			ENSG00000137818	ENSG00000137818		"""L ribosomal proteins"""	10372	protein-coding gene	gene with protein product		180520					Standard	NM_001003		Approved	LP1	uc002asd.1	P05386	OTTHUMG00000133359	ENST00000260379.6:c.93C>T	15.37:g.69746006C>T						RPLP1_uc002ase.1_Intron	p.L31L	NM_001003	NP_000994	P05386	RLA1_HUMAN			2	222	+			31					A6NIB2	Silent	SNP	ENST00000260379.6	37	c.93C>T	CCDS10233.1																																																																																				0.418	RPLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257195.2		NM_001003		68	69	0	0	0	0.01441	0	68	69		
GRAMD2	196996	broad.mit.edu	37	15	72459414	72459414	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr15:72459414G>A	ENST00000309731.7	-	6	405	c.392C>T	c.(391-393)tCt>tTt	p.S131F	GRAMD2_ENST00000564184.1_5'Flank	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	131	GRAM.					integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						CATTTGCACAGACACCACAGG	0.567																																						uc002atq.2		NaN																	0					0						c.(391-393)TCT>TTT		GRAM domain containing 2							177.0	132.0	148.0					15																	72459414		2199	4297	6496	SO:0001583	missense	196996					integral to membrane		g.chr15:72459414G>A	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.392C>T	15.37:g.72459414G>A	ENSP00000311657:p.Ser131Phe					GRAMD2_uc010bis.2_Missense_Mutation_p.S131F	p.S131F	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN			6	416	-			131			GRAM.		B3KT68	Missense_Mutation	SNP	ENST00000309731.7	37	c.392C>T	CCDS32283.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858196	0.91433	.	.	ENSG00000175318	ENST00000309731	D	0.88201	-2.35	5.75	5.75	0.90469	GRAM (2);	0.051584	0.85682	D	0.000000	D	0.94098	0.8108	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94211	0.7459	10	0.72032	D	0.01	.	17.7299	0.88374	0.0:0.0:1.0:0.0	.	131	Q8IUY3	GRAM2_HUMAN	F	131	ENSP00000311657:S131F	ENSP00000311657:S131F	S	-	2	0	GRAMD2	70246468	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.460000	0.90369	2.720000	0.93068	0.655000	0.94253	TCT		0.567	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1		NM_001012642		9	45	0	0	0	0.004482	0	9	45		
SCAPER	49855	broad.mit.edu	37	15	76726455	76726455	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr15:76726455C>T	ENST00000563290.1	-	26	3370	c.3275G>A	c.(3274-3276)gGt>gAt	p.G1092D	SCAPER_ENST00000324767.7_Missense_Mutation_p.G1092D|SCAPER_ENST00000538941.2_Missense_Mutation_p.G846D			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1092						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AAAAGGATCACCTTGTGAGGG	0.373																																						uc002bby.2		NaN																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(3274-3276)GGT>GAT		S-phase cyclin A-associated protein in the ER							108.0	98.0	101.0					15																	76726455		1825	4082	5907	SO:0001583	missense	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:76726455C>T	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.3275G>A	15.37:g.76726455C>T	ENSP00000454973:p.Gly1092Asp					SCAPER_uc010bkr.2_Missense_Mutation_p.G400D|SCAPER_uc002bbx.2_Missense_Mutation_p.G846D|SCAPER_uc002bbz.1_Missense_Mutation_p.G963D	p.G1092D	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN			25	3334	-			1091					F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	c.3275G>A	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826735	0.32329	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.21734	1.99;2.0	5.93	3.87	0.44632	.	0.421434	0.28388	N	0.015524	T	0.14184	0.0343	L	0.36672	1.1	0.32256	N	0.570729	B;B	0.20459	0.045;0.02	B;B	0.21546	0.035;0.02	T	0.15723	-1.0427	10	0.13470	T	0.59	.	7.6322	0.28247	0.2536:0.503:0.2434:0.0	.	1091;846	Q9BY12;F5H7X8	SCAPE_HUMAN;.	D	1092;846;1114	ENSP00000326924:G1092D;ENSP00000442190:G846D	ENSP00000303560:G1114D	G	-	2	0	SCAPER	74513510	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.792000	0.26929	1.469000	0.48083	0.655000	0.94253	GGT		0.373	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1		NM_020843		18	39	0	0	0	0.00499	0	18	39		
CREBBP	1387	broad.mit.edu	37	16	3786148	3786148	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr16:3786148A>C	ENST00000262367.5	-	28	5426	c.4617T>G	c.(4615-4617)taT>taG	p.Y1539*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Y1501*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1539	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				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)			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)		CACCTTCAAAATAGGGCAGTT	0.478			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NaN		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(4615-4617)TAT>TAG		CREB binding protein isoform a							232.0	194.0	207.0					16																	3786148		2197	4300	6497	SO:0001587	stop_gained	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3786148A>C	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.4617T>G	16.37:g.3786148A>C	ENSP00000262367:p.Tyr1539*					CREBBP_uc002cvw.2_Nonsense_Mutation_p.Y1501*	p.Y1539*	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	28	4821	-		Ovarian(90;0.0266)	1539			Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	37	c.4617T>G	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	a	44	11.255034	0.99537	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	.	.	.	5.36	0.618	0.17624	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2853	9.9357	0.41550	0.5136:0.0:0.4864:0.0	.	.	.	.	X	1539;1569;1501;128	.	ENSP00000262367:Y1539X	Y	-	3	2	CREBBP	3726149	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	1.757000	0.38400	-0.103000	0.12175	-0.388000	0.06559	TAT		0.478	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2		NM_004380		80	63	0	0	0	0.01441	0	80	63		
CREBBP	1387	broad.mit.edu	37	16	3828045	3828045	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr16:3828045C>G	ENST00000262367.5	-	10	2889	c.2080G>C	c.(2080-2082)Gtg>Ctg	p.V694L	CREBBP_ENST00000382070.3_Missense_Mutation_p.V656L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	694					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)			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)		TGTGGAATCACAGGGGGCTGA	0.502			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NaN		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(2080-2082)GTG>CTG		CREB binding protein isoform a							95.0	113.0	107.0					16																	3828045		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3828045C>G	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.2080G>C	16.37:g.3828045C>G	ENSP00000262367:p.Val694Leu					CREBBP_uc002cvw.2_Missense_Mutation_p.V656L	p.V694L	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	10	2284	-		Ovarian(90;0.0266)	694					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.2080G>C	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566578	0.28003	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.82711	-1.64;-1.57	5.61	5.61	0.85477	.	0.420050	0.24681	N	0.036463	T	0.73497	0.3594	N	0.22421	0.69	0.09310	N	0.999997	P;B	0.38167	0.621;0.067	B;B	0.38954	0.286;0.04	T	0.65541	-0.6143	10	0.27785	T	0.31	-3.3378	13.2421	0.60002	0.0:0.9272:0.0:0.0728	.	724;694	Q4LE28;Q92793	.;CBP_HUMAN	L	694;724;656	ENSP00000262367:V694L;ENSP00000371502:V656L	ENSP00000262367:V694L	V	-	1	0	CREBBP	3768046	0.172000	0.23043	0.962000	0.40283	0.771000	0.43674	2.957000	0.49137	2.805000	0.96524	0.460000	0.39030	GTG		0.502	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2		NM_004380		31	148	0	0	0	0.012213	0	31	148		
CIITA	4261	broad.mit.edu	37	16	10971204	10971204	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr16:10971204C>T	ENST00000324288.8	+	1	150	c.17C>T	c.(16-18)cCa>cTa	p.P6L	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.P6L|RP11-876N24.2_ENST00000572017.1_RNA|RP11-876N24.2_ENST00000573071.1_RNA	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	6					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TGCCTGGCTCCACGCCCTGCT	0.597			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	uc002dai.3		NaN		Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75		PMBL|Hodgkin Lymphona|		0				central_nervous_system(1)	1						c.(16-18)CCA>CTA		class II transactivator							63.0	57.0	59.0					16																	10971204		2197	4300	6497	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:10971204C>T	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.17C>T	16.37:g.10971204C>T	ENSP00000316328:p.Pro6Leu					CIITA_uc002daj.3_Missense_Mutation_p.P6L|CIITA_uc002dak.3_Missense_Mutation_p.P6L|CIITA_uc002dag.2_Missense_Mutation_p.P6L|CIITA_uc002dah.2_Missense_Mutation_p.P6L|CIITA_uc010bup.1_Missense_Mutation_p.P6L	p.P6L	NM_000246	NP_000237	P33076	C2TA_HUMAN			1	150	+			6					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.17C>T	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518657	0.44763	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.77750	-1.12;1.34	2.94	2.94	0.34122	.	.	.	.	.	T	0.77870	0.4195	L	0.29908	0.895	0.31076	N	0.712474	P;B;D;D;P;D	0.89917	0.893;0.19;1.0;1.0;0.893;0.998	P;B;D;D;P;D	0.80764	0.461;0.076;0.994;0.994;0.461;0.981	T	0.70753	-0.4786	9	0.18276	T	0.48	.	9.6023	0.39612	0.0:1.0:0.0:0.0	.	6;6;6;6;6;6	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	L	6	ENSP00000316328:P6L;ENSP00000371257:P6L	ENSP00000316328:P6L	P	+	2	0	CIITA	10878705	0.535000	0.26370	0.604000	0.28916	0.336000	0.28762	2.921000	0.48852	1.964000	0.57103	0.313000	0.20887	CCA		0.597	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2		NM_000246		7	6	0	0	0	0.001984	0	7	6		
KAT8	84148	broad.mit.edu	37	16	31141847	31141847	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr16:31141847C>T	ENST00000543774.2	+	10	1412	c.1077C>T	c.(1075-1077)ctC>ctT	p.L359L	RP11-388M20.2_ENST00000563605.1_RNA|KAT8_ENST00000219797.4_Silent_p.L359L|KAT8_ENST00000448516.2_Silent_p.L359L			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	359	MYST-type HAT.|Sufficient for interaction with KANSL1.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)										TGGGCAAGCTCAGCTACCGCA	0.612																																						uc002eay.2		NaN																	0				ovary(1)	1						c.(1075-1077)CTC>CTT		MYST histone acetyltransferase 1 isoform 1							36.0	38.0	37.0					16																	31141847		2197	4300	6497	SO:0001819	synonymous_variant	84148				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding	g.chr16:31141847C>T	AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.1077C>T	16.37:g.31141847C>T						MYST1_uc002eax.2_Silent_p.L359L|MYST1_uc002eaz.2_Silent_p.L201L|MYST1_uc002eba.2_Silent_p.L143L|MYST1_uc002ebb.2_RNA	p.L359L	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN			9	1095	+			359					A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Silent	SNP	ENST00000543774.2	37	c.1077C>T	CCDS10706.1																																																																																				0.612	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000255546.3		NM_032188		8	15	0	0	0	0.013537	0	8	15		
CA7	766	broad.mit.edu	37	16	66881069	66881069	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr16:66881069C>T	ENST00000338437.2	+	2	286	c.177C>T	c.(175-177)ctC>ctT	p.L59L	RP11-61A14.1_ENST00000551187.1_RNA|CA7_ENST00000394069.3_Silent_p.L3L	NM_005182.2	NP_005173.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	59					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of chloride transport (GO:2001225)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	Acetazolamide(DB00819)|Diclofenamide(DB01144)|Methazolamide(DB00703)|Zonisamide(DB00909)	GCATGTCCCTCAGCATCACCA	0.572																																						uc002eqi.2		NaN																	0					0						c.(175-177)CTC>CTT		carbonic anhydrase VII isoform 1							126.0	105.0	112.0					16																	66881069		2200	4300	6500	SO:0001819	synonymous_variant	766				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr16:66881069C>T		CCDS10821.1, CCDS42173.1	16q22.1	2008-02-05			ENSG00000168748	ENSG00000168748	4.2.1.1	"""Carbonic anhydrases"""	1381	protein-coding gene	gene with protein product		114770				1783392	Standard	XM_005256135		Approved		uc002eqi.3	P43166	OTTHUMG00000137524	ENST00000338437.2:c.177C>T	16.37:g.66881069C>T						uc002eqh.2_Intron|CA7_uc002eqj.2_Silent_p.L3L	p.L59L	NM_005182	NP_005173	P43166	CAH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	2	286	+		Ovarian(137;0.0563)	59					Q541F0|Q86YU0	Silent	SNP	ENST00000338437.2	37	c.177C>T	CCDS10821.1																																																																																				0.572	CA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268847.1				17	20	0	0	0	0.00499	0	17	20		
PKD1L2	114780	broad.mit.edu	37	16	81161440	81161440	+	RNA	SNP	G	G	A	rs117399993		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr16:81161440G>A	ENST00000534142.1	-	0	663				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTTTGCCCCAGATGGGATACC	0.547																																						uc002fgh.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(6274-6276)ATC>ATT		polycystin 1-like 2 isoform a							66.0	66.0	66.0					16																	81161440		2029	4179	6208			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81161440G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81161440G>A						PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_RNA	p.I2092I	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			38	6276	-			2092			Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000534142.1	37	c.6276C>T																																																																																					0.547	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1				11	38	0	0	0	0.010729	0	11	38		
ABR	29	broad.mit.edu	37	17	1003885	1003885	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:1003885G>A	ENST00000302538.5	-	3	483	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L	ABR_ENST00000291107.2_Silent_p.L76L|ABR_ENST00000574437.1_Silent_p.L67L|ABR_ENST00000544583.2_Silent_p.L67L	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	113	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		ACCAGCAACAGGGCTTCCAGC	0.572																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	uc002fsd.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(337-339)CTG>TTG		active breakpoint cluster region-related							137.0	125.0	129.0					17																	1003885		2203	4300	6503	SO:0001819	synonymous_variant	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:1003885G>A	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.337C>T	17.37:g.1003885G>A						ABR_uc002fse.2_Silent_p.L67L|ABR_uc002fsg.2_Silent_p.L76L|ABR_uc010cjq.1_Silent_p.L125L	p.L113L	NM_021962	NP_068781	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	3	447	-			113			DH.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Silent	SNP	ENST00000302538.5	37	c.337C>T	CCDS10999.1																																																																																				0.572	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4				29	20	0	0	0	0.00632	0	29	20		
ABR	29	broad.mit.edu	37	17	1003907	1003907	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:1003907G>A	ENST00000302538.5	-	3	461	c.315C>T	c.(313-315)atC>atT	p.I105I	ABR_ENST00000291107.2_Silent_p.I68I|ABR_ENST00000574437.1_Silent_p.I59I|ABR_ENST00000544583.2_Silent_p.I59I	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	105	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGTTAATGTAGATCTCTTCGC	0.582																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	uc002fsd.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(313-315)ATC>ATT		active breakpoint cluster region-related							161.0	144.0	150.0					17																	1003907		2203	4300	6503	SO:0001819	synonymous_variant	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:1003907G>A	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.315C>T	17.37:g.1003907G>A						ABR_uc002fse.2_Silent_p.I59I|ABR_uc002fsg.2_Silent_p.I68I|ABR_uc010cjq.1_Silent_p.I117I	p.I105I	NM_021962	NP_068781	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	3	425	-			105			DH.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Silent	SNP	ENST00000302538.5	37	c.315C>T	CCDS10999.1																																																																																				0.582	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4				45	22	0	0	0	0.010771	0	45	22		
TP53	7157	broad.mit.edu	37	17	7578475	7578475	+	Missense_Mutation	SNP	G	G	A	rs137852790|rs137852791|rs587782705		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:7578475G>A	ENST00000269305.4	-	5	644	c.455C>T	c.(454-456)cCg>cTg	p.P152L	TP53_ENST00000413465.2_Missense_Mutation_p.P152L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.P152L|TP53_ENST00000420246.2_Missense_Mutation_p.P152L|TP53_ENST00000445888.2_Missense_Mutation_p.P152L|TP53_ENST00000359597.4_Missense_Mutation_p.P152L	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	152	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9450901}.|P -> T (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.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(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)	GGTGCCGGGCGGGGGTGTGGA	0.612		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)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		132	Substitution - Missense(84)|Deletion - Frameshift(25)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)	p.P152L(57)|p.P152S(21)|p.P152fs*18(17)|p.P152T(7)|p.0?(7)|p.P152fs*29(5)|p.P152P(5)|p.P152Q(4)|p.P153fs*28(4)|p.P152fs*14(4)|p.P152fs*28(3)|p.P152R(3)|p.T150fs*16(3)|p.P152A(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P152_P153insXXX(1)	large_intestine(22)|central_nervous_system(18)|upper_aerodigestive_tract(15)|oesophagus(10)|skin(9)|haematopoietic_and_lymphoid_tissue(8)|ovary(8)|prostate(8)|urinary_tract(7)|stomach(6)|bone(5)|breast(4)|lung(3)|liver(3)|vulva(2)|soft_tissue(2)|thyroid(1)|adrenal_gland(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM941327	TP53	M		c.(454-456)CCG>CTG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							51.0	52.0	52.0					17																	7578475		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578475G>A	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.455C>T	17.37:g.7578475G>A	ENSP00000269305:p.Pro152Leu	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)				TP53_uc002gig.1_Missense_Mutation_p.P152L|TP53_uc002gih.2_Missense_Mutation_p.P152L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P20L|TP53_uc010cng.1_Missense_Mutation_p.P20L|TP53_uc002gii.1_Missense_Mutation_p.P20L|TP53_uc010cnh.1_Missense_Mutation_p.P152L|TP53_uc010cni.1_Missense_Mutation_p.P152L|TP53_uc002gij.2_Missense_Mutation_p.P152L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P59L|TP53_uc002gio.2_Missense_Mutation_p.P20L|TP53_uc010vug.1_Missense_Mutation_p.P113L	p.P152L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	649	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	152		P -> R (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		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	c.455C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.796249	0.70567	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.59	5.59	0.84812	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	0.99904	0.9954	M	0.91768	3.24	0.80722	D	1	P;P;D;D;D;P;D	0.89917	0.95;0.94;1.0;0.991;0.99;0.951;0.968	P;P;D;P;D;P;B	0.79108	0.53;0.774;0.992;0.561;0.91;0.812;0.377	D	0.96418	0.9309	10	0.87932	D	0	-5.4688	17.4784	0.87667	0.0:0.0:1.0:0.0	.	113;152;152;59;152;152;152	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	152;152;152;152;152;152;141;59;20;59;20;152	ENSP00000410739:P152L;ENSP00000352610:P152L;ENSP00000269305:P152L;ENSP00000398846:P152L;ENSP00000391127:P152L;ENSP00000391478:P152L;ENSP00000425104:P20L;ENSP00000423862:P59L;ENSP00000424104:P152L	ENSP00000269305:P152L	P	-	2	0	TP53	7519200	1.000000	0.71417	0.940000	0.37924	0.022000	0.10575	7.901000	0.87382	2.804000	0.96469	0.655000	0.94253	CCG		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		35	5	0	0	0	0.00623	0	35	5		
MYH13	8735	broad.mit.edu	37	17	10206521	10206521	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:10206521C>T	ENST00000418404.3	-	38	5822	c.5659G>A	c.(5659-5661)Gag>Aag	p.E1887K	MYH13_ENST00000252172.4_Missense_Mutation_p.E1887K|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1887					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACCGCCTCCTCAGCCTGCCTC	0.592																																						uc002gmk.1		NaN																	0				ovary(4)|skin(2)	6						c.(5659-5661)GAG>AAG		myosin, heavy polypeptide 13, skeletal muscle							120.0	126.0	124.0					17																	10206521		2128	4248	6376	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10206521C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5659G>A	17.37:g.10206521C>T	ENSP00000404570:p.Glu1887Lys						p.E1887K	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			39	5749	-			1887			Potential.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5659G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457748	0.84317	.	.	ENSG00000006788	ENST00000252172	D	0.81996	-1.56	3.72	3.72	0.42706	Myosin tail (1);	.	.	.	.	D	0.94371	0.8190	H	0.98178	4.165	0.46203	D	0.998924	D	0.89917	1.0	D	0.97110	1.0	D	0.96704	0.9520	9	0.87932	D	0	.	16.0268	0.80550	0.0:1.0:0.0:0.0	.	1887	Q9UKX3	MYH13_HUMAN	K	1887	ENSP00000252172:E1887K	ENSP00000252172:E1887K	E	-	1	0	MYH13	10147246	1.000000	0.71417	0.989000	0.46669	0.608000	0.37181	7.564000	0.82326	2.058000	0.61347	0.491000	0.48974	GAG		0.592	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1		NM_003802		38	42	0	0	0	0.021022	0	38	42		
SLC47A1	55244	broad.mit.edu	37	17	19480737	19480737	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:19480737G>A	ENST00000270570.4	+	17	1670	c.1584G>A	c.(1582-1584)ccG>ccA	p.P528P	SLC47A1_ENST00000571335.1_Silent_p.P274P|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000436810.2_3'UTR|AC025627.7_ENST00000420951.1_RNA|SLC47A1_ENST00000575023.1_Silent_p.P226P|SLC47A1_ENST00000395585.1_Silent_p.P528P|SLC47A1_ENST00000457293.1_Silent_p.P528P	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	528					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	AACCTTTGCCGGAACATCCAC	0.532																																						uc002gvy.1		NaN																	0					0						c.(1582-1584)CCG>CCA		solute carrier family 47, member 1							134.0	136.0	136.0					17																	19480737		2203	4300	6503	SO:0001819	synonymous_variant	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19480737G>A		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1584G>A	17.37:g.19480737G>A						SLC47A1_uc002gvx.2_Silent_p.P528P|SLC47A1_uc010vyz.1_3'UTR|SLC47A1_uc010cqp.1_Silent_p.P226P|SLC47A1_uc010cqq.1_Silent_p.P274P|SLC47A1_uc010vza.1_Silent_p.P240P|SLC47A1_uc010vzb.1_Silent_p.P203P|SLC47A1_uc010vzc.1_Silent_p.P200P	p.P528P	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN			17	1670	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		528			Cytoplasmic (Potential).		Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Silent	SNP	ENST00000270570.4	37	c.1584G>A	CCDS11209.1																																																																																				0.532	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1		NM_018242		38	157	0	0	0	0.006999	0	38	157		
CPD	1362	broad.mit.edu	37	17	28712233	28712233	+	Missense_Mutation	SNP	G	G	A	rs373819167		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:28712233G>A	ENST00000225719.4	+	2	1049	c.973G>A	c.(973-975)Gca>Aca	p.A325T	CPD_ENST00000543464.2_Missense_Mutation_p.A78T	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	325	Carboxypeptidase-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CACAAACGGCGCACATTGGTA	0.413																																						uc002hfb.1		NaN																	0				liver(1)|skin(1)	2						c.(973-975)GCA>ACA		carboxypeptidase D precursor		G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	184.0	185.0	185.0		232,973	5.5	1.0	17		185	0,8600		0,0,4300	no	missense,missense	CPD	NM_001199775.1,NM_001304.4	58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	78/1134,325/1381	28712233	1,13005	2203	4300	6503	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28712233G>A	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.973G>A	17.37:g.28712233G>A	ENSP00000225719:p.Ala325Thr					CPD_uc010wbo.1_Missense_Mutation_p.A78T|CPD_uc010wbp.1_RNA	p.A325T	NM_001304	NP_001295	O75976	CBPD_HUMAN			2	988	+			325			Extracellular (Potential).|Carboxypeptidase-like 1.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.973G>A	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	G	35	5.582333	0.96578	2.27E-4	0.0	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.11495	2.77;2.77	5.53	5.53	0.82687	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.41259	0.1151	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.43442	-0.9391	10	0.87932	D	0	.	18.4576	0.90727	0.0:0.0:1.0:0.0	.	78;325	F5GZH6;O75976	.;CBPD_HUMAN	T	325;78	ENSP00000225719:A325T;ENSP00000444443:A78T	ENSP00000225719:A325T	A	+	1	0	CPD	25736359	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	9.411000	0.97342	2.587000	0.87381	0.591000	0.81541	GCA		0.413	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3		NM_001304		149	279	0	0	0	0.01441	0	149	279		
COPZ2	51226	broad.mit.edu	37	17	46111232	46111232	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:46111232C>G	ENST00000006101.4	-	4	258	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	89					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)				lung(3)|upper_aerodigestive_tract(1)	4						CACTTACTCTCAGTCCGGCTG	0.483																																						uc002imy.2		NaN																	0					0						c.(265-267)GAG>CAG		coatomer protein complex, subunit zeta 2							78.0	82.0	81.0					17																	46111232		2052	4207	6259	SO:0001583	missense	51226				intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat		g.chr17:46111232C>G	AB037938	CCDS74092.1	17q21.2	2008-07-18				ENSG00000005243			19356	protein-coding gene	gene with protein product	"""nonclathrin coat protein zeta-COP"", ""zeta2-COP"", ""zeta-2 coat protein"""	615526				11056392	Standard	NM_016429		Approved	MGC23008	uc002imy.3	Q9P299		ENST00000006101.4:c.259G>C	17.37:g.46111232C>G	ENSP00000006101:p.Glu87Gln						p.E89Q	NM_016429	NP_057513	Q9P299	COPZ2_HUMAN			7	278	-			89						Missense_Mutation	SNP	ENST00000006101.4	37	c.265G>C		.	.	.	.	.	.	.	.	.	.	C	13.87	2.366463	0.41902	.	.	ENSG00000005243	ENST00000006101	.	.	.	5.59	5.59	0.84812	Longin-like (1);AP complex, mu/sigma subunit (1);	0.127940	0.49916	D	0.000130	T	0.53286	0.1787	L	0.41492	1.28	0.44454	D	0.997382	P	0.38788	0.647	B	0.38156	0.266	T	0.56980	-0.7889	9	0.56958	D	0.05	.	18.3509	0.90338	0.0:1.0:0.0:0.0	.	89	Q9P299	COPZ2_HUMAN	Q	87	.	ENSP00000006101:E87Q	E	-	1	0	COPZ2	43466231	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	6.238000	0.72350	2.635000	0.89317	0.643000	0.83706	GAG		0.483	COPZ2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_016429		6	24	0	0	0	0.001168	0	6	24		
CACNA1G	8913	broad.mit.edu	37	17	48681582	48681582	+	Silent	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:48681582C>A	ENST00000359106.5	+	22	4236	c.4236C>A	c.(4234-4236)atC>atA	p.I1412I	CACNA1G_ENST00000510366.1_Silent_p.I1412I|CACNA1G_ENST00000360761.4_Silent_p.I1389I|CACNA1G_ENST00000502264.1_Silent_p.I1389I|CACNA1G_ENST00000442258.2_Silent_p.I1389I|CACNA1G_ENST00000358244.5_Silent_p.I1389I|CACNA1G_ENST00000429973.2_Silent_p.I1412I|CACNA1G_ENST00000505165.1_Silent_p.I1412I|CACNA1G_ENST00000512389.1_Silent_p.I1412I|CACNA1G_ENST00000507896.1_Silent_p.I1412I|CACNA1G_ENST00000514079.1_Silent_p.I1412I|CACNA1G_ENST00000507336.1_Silent_p.I1412I|CACNA1G_ENST00000352832.5_Silent_p.I1389I|CACNA1G_ENST00000515765.1_Silent_p.I1412I|CACNA1G_ENST00000354983.4_Silent_p.I1389I|CACNA1G_ENST00000514717.1_Silent_p.I1389I|CACNA1G_ENST00000510115.1_Silent_p.I1389I|CACNA1G_ENST00000515165.1_Silent_p.I1412I|CACNA1G_ENST00000416767.4_Silent_p.I1412I|CACNA1G_ENST00000515411.1_Silent_p.I1412I|CACNA1G_ENST00000513964.1_Silent_p.I1412I|CACNA1G_ENST00000507609.1_Silent_p.I1412I|CACNA1G_ENST00000513689.2_Silent_p.I1412I|CACNA1G_ENST00000503485.1_Silent_p.I1412I|CACNA1G_ENST00000514181.1_Silent_p.I1412I|CACNA1G_ENST00000507510.2_Silent_p.I1412I	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1412					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGAAACCCATCGGCAACATTG	0.597																																						uc002irk.1		NaN																	0				breast(1)	1						c.(4234-4236)ATC>ATA		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						147.0	156.0	153.0					17																	48681582		2163	4279	6442	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48681582C>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4236C>A	17.37:g.48681582C>A						CACNA1G_uc002iri.1_Silent_p.I1412I|CACNA1G_uc002irj.1_Silent_p.I1389I|CACNA1G_uc002irl.1_Silent_p.I1389I|CACNA1G_uc002irm.1_Silent_p.I1389I|CACNA1G_uc002irn.1_Silent_p.I1389I|CACNA1G_uc002iro.1_Silent_p.I1389I|CACNA1G_uc002irp.1_Silent_p.I1412I|CACNA1G_uc002irq.1_Silent_p.I1389I|CACNA1G_uc002irr.1_Silent_p.I1412I|CACNA1G_uc002irs.1_Silent_p.I1412I|CACNA1G_uc002irt.1_Silent_p.I1412I|CACNA1G_uc002irv.1_Silent_p.I1412I|CACNA1G_uc002irw.1_Silent_p.I1389I|CACNA1G_uc002iru.1_Silent_p.I1389I|CACNA1G_uc002irx.1_Silent_p.I1325I|CACNA1G_uc002iry.1_Silent_p.I1325I|CACNA1G_uc002irz.1_Silent_p.I1325I|CACNA1G_uc002isa.1_Silent_p.I1325I|CACNA1G_uc002isb.1_Silent_p.I1325I|CACNA1G_uc002isc.1_Silent_p.I1325I|CACNA1G_uc002isd.1_Silent_p.I1325I|CACNA1G_uc002ise.1_Silent_p.I1325I|CACNA1G_uc002isf.1_Silent_p.I1325I|CACNA1G_uc002isg.1_Silent_p.I1325I|CACNA1G_uc002ish.1_Silent_p.I1325I|CACNA1G_uc002isi.1_Silent_p.I1302I|CACNA1G_uc002isj.2_Silent_p.I136I	p.I1412I	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		22	4608	+	Breast(11;6.7e-17)		1412			Helical; Name=S5 of repeat III; (Potential).|III.		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.4236C>A	CCDS45730.1																																																																																				0.597	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1		NM_018896		31	110	1	0	1.16021e-09	0.007291	1.21617e-09	31	110		
CACNA1G	8913	broad.mit.edu	37	17	48681612	48681612	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:48681612C>T	ENST00000359106.5	+	22	4266	c.4266C>T	c.(4264-4266)ttC>ttT	p.F1422F	CACNA1G_ENST00000510366.1_Silent_p.F1422F|CACNA1G_ENST00000360761.4_Silent_p.F1399F|CACNA1G_ENST00000502264.1_Silent_p.F1399F|CACNA1G_ENST00000442258.2_Silent_p.F1399F|CACNA1G_ENST00000358244.5_Silent_p.F1399F|CACNA1G_ENST00000429973.2_Silent_p.F1422F|CACNA1G_ENST00000505165.1_Silent_p.F1422F|CACNA1G_ENST00000512389.1_Silent_p.F1422F|CACNA1G_ENST00000507896.1_Silent_p.F1422F|CACNA1G_ENST00000514079.1_Silent_p.F1422F|CACNA1G_ENST00000507336.1_Silent_p.F1422F|CACNA1G_ENST00000352832.5_Silent_p.F1399F|CACNA1G_ENST00000515765.1_Silent_p.F1422F|CACNA1G_ENST00000354983.4_Silent_p.F1399F|CACNA1G_ENST00000514717.1_Silent_p.F1399F|CACNA1G_ENST00000510115.1_Silent_p.F1399F|CACNA1G_ENST00000515165.1_Silent_p.F1422F|CACNA1G_ENST00000416767.4_Silent_p.F1422F|CACNA1G_ENST00000515411.1_Silent_p.F1422F|CACNA1G_ENST00000513964.1_Silent_p.F1422F|CACNA1G_ENST00000507609.1_Silent_p.F1422F|CACNA1G_ENST00000513689.2_Silent_p.F1422F|CACNA1G_ENST00000503485.1_Silent_p.F1422F|CACNA1G_ENST00000514181.1_Silent_p.F1422F|CACNA1G_ENST00000507510.2_Silent_p.F1422F	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1422					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTGTGCCTTCTTCATCATTT	0.607																																						uc002irk.1		NaN																	0				breast(1)	1						c.(4264-4266)TTC>TTT		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						140.0	149.0	146.0					17																	48681612		2137	4250	6387	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48681612C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4266C>T	17.37:g.48681612C>T						CACNA1G_uc002iri.1_Silent_p.F1422F|CACNA1G_uc002irj.1_Silent_p.F1399F|CACNA1G_uc002irl.1_Silent_p.F1399F|CACNA1G_uc002irm.1_Silent_p.F1399F|CACNA1G_uc002irn.1_Silent_p.F1399F|CACNA1G_uc002iro.1_Silent_p.F1399F|CACNA1G_uc002irp.1_Silent_p.F1422F|CACNA1G_uc002irq.1_Silent_p.F1399F|CACNA1G_uc002irr.1_Silent_p.F1422F|CACNA1G_uc002irs.1_Silent_p.F1422F|CACNA1G_uc002irt.1_Silent_p.F1422F|CACNA1G_uc002irv.1_Silent_p.F1422F|CACNA1G_uc002irw.1_Silent_p.F1399F|CACNA1G_uc002iru.1_Silent_p.F1399F|CACNA1G_uc002irx.1_Silent_p.F1335F|CACNA1G_uc002iry.1_Silent_p.F1335F|CACNA1G_uc002irz.1_Silent_p.F1335F|CACNA1G_uc002isa.1_Silent_p.F1335F|CACNA1G_uc002isb.1_Silent_p.F1335F|CACNA1G_uc002isc.1_Silent_p.F1335F|CACNA1G_uc002isd.1_Silent_p.F1335F|CACNA1G_uc002ise.1_Silent_p.F1335F|CACNA1G_uc002isf.1_Silent_p.F1335F|CACNA1G_uc002isg.1_Silent_p.F1335F|CACNA1G_uc002ish.1_Silent_p.F1335F|CACNA1G_uc002isi.1_Silent_p.F1312F|CACNA1G_uc002isj.2_Silent_p.F146F	p.F1422F	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		22	4638	+	Breast(11;6.7e-17)		1422			Helical; Name=S5 of repeat III; (Potential).|III.		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.4266C>T	CCDS45730.1																																																																																				0.607	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1		NM_018896		32	129	0	0	0	0.019004	0	32	129		
ABCC3	8714	broad.mit.edu	37	17	48761367	48761367	+	Missense_Mutation	SNP	C	C	A	rs141762939		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:48761367C>A	ENST00000285238.8	+	28	4092	c.4012C>A	c.(4012-4014)Cgc>Agc	p.R1338S		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1338	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TTGCCTGTTCCGCATCCTGGA	0.622																																						uc002isl.2		NaN																	0				skin(3)|central_nervous_system(1)	4						c.(4012-4014)CGC>AGC		ATP-binding cassette, sub-family C, member 3	Glibenclamide(DB01016)						53.0	50.0	51.0					17																	48761367		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48761367C>A	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.4012C>A	17.37:g.48761367C>A	ENSP00000285238:p.Arg1338Ser					ABCC3_uc002isn.2_Missense_Mutation_p.R92S	p.R1338S	NM_003786	NP_003777	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		28	4092	+			1338			Cytoplasmic (By similarity).|ABC transporter 2.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.4012C>A	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	c	21.1	4.093669	0.76870	.	.	ENSG00000108846	ENST00000285238	D	0.91996	-2.95	5.23	3.06	0.35304	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95990	0.8694	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.96476	0.9352	10	0.87932	D	0	-18.6025	13.3909	0.60823	0.3886:0.6114:0.0:0.0	.	1338	O15438	MRP3_HUMAN	S	1338	ENSP00000285238:R1338S	ENSP00000285238:R1338S	R	+	1	0	ABCC3	46116366	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.303000	0.33470	1.309000	0.44985	0.651000	0.88453	CGC		0.622	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2		NM_020038		42	18	1	0	9.84934e-19	0.010771	1.07029e-18	42	18		
GNA13	10672	broad.mit.edu	37	17	63052540	63052540	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:63052540C>T	ENST00000439174.2	-	1	417	c.172G>A	c.(172-174)Gag>Aag	p.E58K	GNA13_ENST00000541118.1_5'Flank	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	58					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						TTGCCGCTCTCGCCCGCGCCC	0.617																																						uc002jfc.2		NaN																	0					0						c.(172-174)GAG>AAG		guanine nucleotide binding protein (G protein),							103.0	100.0	101.0					17																	63052540		2203	4300	6503	SO:0001583	missense	10672				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	g.chr17:63052540C>T	L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.172G>A	17.37:g.63052540C>T	ENSP00000400717:p.Glu58Lys					GNA13_uc010wqh.1_5'Flank	p.E58K	NM_006572	NP_006563	Q14344	GNA13_HUMAN			1	381	-			58			GTP (By similarity).		B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	37	c.172G>A	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597550	0.66332	.	.	ENSG00000120063	ENST00000439174;ENST00000239138	D	0.82711	-1.64	3.67	2.68	0.31781	G protein alpha subunit, helical insertion (1);	0.138711	0.47455	U	0.000223	D	0.93805	0.8019	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93475	0.6822	10	0.87932	D	0	.	10.5062	0.44834	0.0:0.8992:0.0:0.1008	.	58	Q14344	GNA13_HUMAN	K	58	ENSP00000400717:E58K	ENSP00000239138:E58K	E	-	1	0	GNA13	60483002	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	5.373000	0.66162	0.510000	0.28216	0.462000	0.41574	GAG		0.617	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1		NM_006572		34	124	0	0	0	0.013726	0	34	124		
CEP112	201134	broad.mit.edu	37	17	64171210	64171210	+	Missense_Mutation	SNP	G	G	C	rs569094838		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:64171210G>C	ENST00000392769.2	-	4	640	c.422C>G	c.(421-423)tCt>tGt	p.S141C	CEP112_ENST00000537949.1_Missense_Mutation_p.S141C|CEP112_ENST00000535342.2_Missense_Mutation_p.S141C	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	141					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TTCTCCAGAAGAGAGTTTCCA	0.423																																						uc002jfl.2		NaN																	0					0						c.(421-423)TCT>TGT		coiled-coil domain containing 46 isoform a							191.0	173.0	179.0					17																	64171210		2203	4300	6503	SO:0001583	missense	201134					centrosome		g.chr17:64171210G>C	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.422C>G	17.37:g.64171210G>C	ENSP00000376522:p.Ser141Cys					CCDC46_uc002jfm.2_Missense_Mutation_p.S141C|CCDC46_uc010dep.2_Missense_Mutation_p.S141C	p.S141C	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.53e-06)		4	641	-			141					Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.422C>G	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274548	0.59649	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000537949	T;T;T	0.50001	0.78;0.78;0.76	5.46	5.46	0.80206	.	0.425218	0.22855	N	0.054814	T	0.58850	0.2151	L	0.57536	1.79	0.80722	D	1	P;P	0.43169	0.8;0.8	P;P	0.49301	0.606;0.606	T	0.61811	-0.6986	10	0.87932	D	0	-4.538	18.9	0.92439	0.0:0.0:1.0:0.0	.	141;141	F5GYE8;Q8N8E3	.;CE112_HUMAN	C	141	ENSP00000442784:S141C;ENSP00000376522:S141C;ENSP00000440775:S141C	ENSP00000376522:S141C	S	-	2	0	CEP112	61601672	1.000000	0.71417	0.863000	0.33907	0.792000	0.44763	6.689000	0.74562	2.544000	0.85801	0.650000	0.86243	TCT		0.423	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1		NM_145036		33	187	0	0	0	0.012213	0	33	187		
DSC1	1823	broad.mit.edu	37	18	28736055	28736055	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr18:28736055G>T	ENST00000257198.5	-	4	683	c.422C>A	c.(421-423)gCt>gAt	p.A141D	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.A141D	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	141	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CATCAATGAAGCTGGAATAGG	0.403																																						uc002kwn.2		NaN																	0				ovary(3)|skin(1)	4						c.(421-423)GCT>GAT		desmocollin 1 isoform Dsc1a preproprotein							141.0	118.0	126.0					18																	28736055		2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28736055G>T	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.422C>A	18.37:g.28736055G>T	ENSP00000257198:p.Ala141Asp					DSC1_uc002kwm.2_Missense_Mutation_p.A141D	p.A141D	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		4	684	-			141			Cadherin 1.|Extracellular (Potential).		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.422C>A	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127334	0.37533	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.56444	0.46;0.46	5.66	4.79	0.61399	Cadherin (2);Cadherin-like (2);	0.473273	0.19769	N	0.106493	T	0.42630	0.1211	L	0.32530	0.975	0.09310	N	0.999997	B;B	0.30236	0.129;0.274	B;B	0.31869	0.137;0.137	T	0.43988	-0.9357	10	0.72032	D	0.01	.	10.0618	0.42279	0.1406:0.5772:0.2822:0.0	.	141;141	Q08554;Q9HB00	DSC1_HUMAN;.	D	141	ENSP00000257197:A141D;ENSP00000257198:A141D	ENSP00000257197:A141D	A	-	2	0	DSC1	26990053	0.793000	0.28825	0.167000	0.22817	0.782000	0.44232	2.164000	0.42387	1.528000	0.49103	-0.147000	0.13772	GCT		0.403	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1		NM_004948, NM_024421		23	71	1	0	3.5997e-14	0.014323	3.83497e-14	23	71		
B4GALT6	9331	broad.mit.edu	37	18	29206280	29206280	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr18:29206280G>C	ENST00000306851.5	-	8	1263	c.967C>G	c.(967-969)Cat>Gat	p.H323D	B4GALT6_ENST00000383131.3_Missense_Mutation_p.H284D|B4GALT6_ENST00000237019.7_Missense_Mutation_p.H284D	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	323	UDP-alpha-D-galactose binding. {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			CTATGGTGATGAGGAATTGAC	0.358																																						uc002kwz.3		NaN																	0					0						c.(967-969)CAT>GAT		beta-1,4-galactosyltransferase 6							118.0	98.0	105.0					18																	29206280		2203	4300	6503	SO:0001583	missense	9331				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding	g.chr18:29206280G>C	AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"""Beta 4-glycosyltransferases"""	929	protein-coding gene	gene with protein product	"""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"""	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.967C>G	18.37:g.29206280G>C	ENSP00000306459:p.His323Asp					B4GALT6_uc010dma.2_Missense_Mutation_p.H284D|B4GALT6_uc010dmb.2_Missense_Mutation_p.H284D|B4GALT6_uc002kwy.3_RNA	p.H323D	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00791)		8	1264	-			323			Lumenal (Potential).	Manganese (By similarity).	O60514|Q6NT09	Missense_Mutation	SNP	ENST00000306851.5	37	c.967C>G	CCDS11900.1	.	.	.	.	.	.	.	.	.	.	G	32	5.191383	0.94923	.	.	ENSG00000118276	ENST00000306851;ENST00000237019;ENST00000383131	D;D;D	0.87966	-2.32;-2.32;-2.32	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.95733	0.8612	H	0.94925	3.6	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.999	D;P;D	0.74348	0.983;0.844;0.97	D	0.96078	0.9051	10	0.87932	D	0	-30.5821	20.4008	0.98991	0.0:0.0:1.0:0.0	.	284;284;323	Q6NT09;G3XA83;Q9UBX8	.;.;B4GT6_HUMAN	D	323;284;284	ENSP00000306459:H323D;ENSP00000237019:H284D;ENSP00000372613:H284D	ENSP00000237019:H284D	H	-	1	0	B4GALT6	27460278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.021000	0.88750	2.826000	0.97356	0.655000	0.94253	CAT		0.358	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2		NM_004775		45	15	0	0	0	0.011902	0	45	15		
DYM	54808	broad.mit.edu	37	18	46904947	46904947	+	Silent	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr18:46904947A>G	ENST00000269445.6	-	5	868	c.411T>C	c.(409-411)ccT>ccC	p.P137P	DYM_ENST00000442713.2_Intron|DYM_ENST00000578396.1_5'UTR	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	137					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						TGTAATTGCCAGGAGATTTTT	0.289																																						uc002ldi.1		NaN																	0					0						c.(409-411)CCT>CCC		dymeclin							64.0	64.0	64.0					18																	46904947		2203	4297	6500	SO:0001819	synonymous_variant	54808					Golgi apparatus		g.chr18:46904947A>G	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.411T>C	18.37:g.46904947A>G						DYM_uc010xdf.1_Intron	p.P137P	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN			5	776	-			137					A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Silent	SNP	ENST00000269445.6	37	c.411T>C	CCDS11937.1																																																																																				0.289	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3		NM_017653		24	41	0	0	0	0.014323	0	24	41		
ZNF236	7776	broad.mit.edu	37	18	74606980	74606980	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr18:74606980G>A	ENST00000253159.8	+	10	1621	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K	ZNF236_ENST00000320610.9_Missense_Mutation_p.E477K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	475					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CTCCATCCGCGAGGAGAACGG	0.657																																						uc002lmi.2		NaN																	0				ovary(4)	4						c.(1423-1425)GAG>AAG		zinc finger protein 236							80.0	93.0	89.0					18																	74606980		2176	4265	6441	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74606980G>A	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1423G>A	18.37:g.74606980G>A	ENSP00000253159:p.Glu475Lys					ZNF236_uc002lmj.2_RNA	p.E475K	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	10	1621	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	475					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.1423G>A	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035525	0.35893	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.10860	2.83;3.04	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.24509	0.0594	M	0.67953	2.075	0.49051	D	0.999742	D	0.69078	0.997	P	0.51453	0.67	T	0.00998	-1.1486	10	0.59425	D	0.04	.	18.8585	0.92264	0.0:0.0:1.0:0.0	.	475	Q9UL36	ZN236_HUMAN	K	475	ENSP00000253159:E475K;ENSP00000444524:E475K	ENSP00000253159:E475K	E	+	1	0	ZNF236	72735968	1.000000	0.71417	0.994000	0.49952	0.437000	0.31866	7.524000	0.81866	2.446000	0.82766	0.563000	0.77884	GAG		0.657	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1				36	68	0	0	0	0.011902	0	36	68		
ZNF236	7776	broad.mit.edu	37	18	74617282	74617282	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr18:74617282C>G	ENST00000253159.8	+	13	2400	c.2202C>G	c.(2200-2202)atC>atG	p.I734M	ZNF236_ENST00000320610.9_Missense_Mutation_p.I736M	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	734					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ACATGGGTATCCACAACGACC	0.433																																						uc002lmi.2		NaN																	0				ovary(4)	4						c.(2200-2202)ATC>ATG		zinc finger protein 236							58.0	59.0	58.0					18																	74617282		1896	4126	6022	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74617282C>G	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2202C>G	18.37:g.74617282C>G	ENSP00000253159:p.Ile734Met					ZNF236_uc002lmj.2_RNA	p.I734M	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	13	2400	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	734			C2H2-type 16.		B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.2202C>G	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966662	0.34659	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.07800	3.16;3.16	5.39	-1.73	0.08081	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.119722	0.56097	D	0.000030	T	0.09905	0.0243	L	0.45228	1.405	0.37937	D	0.932207	P	0.47484	0.896	P	0.51742	0.678	T	0.16305	-1.0407	10	0.56958	D	0.05	.	4.722	0.12922	0.4195:0.3247:0.0:0.2558	.	734	Q9UL36	ZN236_HUMAN	M	734	ENSP00000253159:I734M;ENSP00000444524:I734M	ENSP00000253159:I734M	I	+	3	3	ZNF236	72746270	0.293000	0.24371	0.816000	0.32577	0.336000	0.28762	-0.335000	0.07873	-0.617000	0.05664	-1.516000	0.00938	ATC		0.433	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1				19	22	0	0	0	0.006122	0	19	22		
S1PR4	8698	broad.mit.edu	37	19	3179545	3179545	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:3179545C>T	ENST00000246115.3	+	1	810	c.755C>T	c.(754-756)aCg>aTg	p.T252M		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	252					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CTGCTGAAGACGGTGCTGATG	0.687																																					GBM(82;318 1638 33279 49708)	uc002lxg.2		NaN																	0				lung(1)|skin(1)	2						c.(754-756)ACG>ATG		sphingosine-1-phosphate receptor 4 precursor							41.0	45.0	44.0					19																	3179545		2203	4300	6503	SO:0001583	missense	8698				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:3179545C>T	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3170	protein-coding gene	gene with protein product		603751	"""endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"""	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.755C>T	19.37:g.3179545C>T	ENSP00000246115:p.Thr252Met						p.T252M	NM_003775	NP_003766	O95977	S1PR4_HUMAN			1	780	+			252			Cytoplasmic (By similarity).		D6W612	Missense_Mutation	SNP	ENST00000246115.3	37	c.755C>T	CCDS12105.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185597	0.78677	.	.	ENSG00000125910	ENST00000246115	T	0.36699	1.24	4.23	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	L	0.60455	1.87	0.53688	D	0.999979	D	0.89917	1.0	D	0.85130	0.997	T	0.61496	-0.7051	10	0.87932	D	0	.	15.1914	0.73047	0.0:1.0:0.0:0.0	.	252	O95977	S1PR4_HUMAN	M	252	ENSP00000246115:T252M	ENSP00000246115:T252M	T	+	2	0	S1PR4	3130545	1.000000	0.71417	0.894000	0.35097	0.791000	0.44710	5.661000	0.68025	1.923000	0.55706	0.462000	0.41574	ACG		0.687	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1		NM_003775		15	34	0	0	0	0.008871	0	15	34		
HDGFRP2	84717	broad.mit.edu	37	19	4475339	4475339	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:4475339C>T	ENST00000301284.4	+	2	204	c.140C>T	c.(139-141)aCa>aTa	p.T47I	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.T47I	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		47	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										TTCTTTGGCACACACGAAACG	0.602																																						uc002mao.2		NaN																	0					0						c.(139-141)ACA>ATA		hepatoma-derived growth factor-related protein 2							90.0	99.0	97.0					19																	4475339		1942	4130	6072	SO:0001583	missense	84717				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4475339C>T																												ENST00000301284.4:c.140C>T	19.37:g.4475339C>T	ENSP00000301284:p.Thr47Ile					HDGFRP2_uc002map.2_Missense_Mutation_p.T47I|HDGFRP2_uc010dtz.1_5'Flank	p.T47I	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN			2	233	+			47			PWWP.		I3L080|K7EQZ6|Q96GI5|Q9BW08	Missense_Mutation	SNP	ENST00000301284.4	37	c.140C>T	CCDS42472.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718006	0.89205	.	.	ENSG00000167674	ENST00000301284;ENST00000398364	T	0.72615	-0.67	4.91	4.91	0.64330	PWWP (3);	0.000000	0.85682	D	0.000000	D	0.89643	0.6774	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.93224	0.6611	10	0.87932	D	0	.	17.4207	0.87514	0.0:1.0:0.0:0.0	.	47;47	C9JEE1;Q7Z4V5	.;HDGR2_HUMAN	I	47;33	ENSP00000301284:T47I	ENSP00000301284:T47I	T	+	2	0	AC011498.1	4426339	1.000000	0.71417	0.979000	0.43373	0.945000	0.59286	7.456000	0.80751	2.417000	0.82017	0.561000	0.74099	ACA		0.602	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1				18	29	0	0	0	0.006122	0	18	29		
FBN3	84467	broad.mit.edu	37	19	8193911	8193911	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:8193911C>T	ENST00000600128.1	-	18	2711		c.e18+1		FBN3_ENST00000601739.1_Splice_Site|FBN3_ENST00000270509.2_Splice_Site			Q75N90	FBN3_HUMAN	fibrillin 3							proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGACCCAGTACCTTTGCAGAT	0.592																																						uc002mjf.2		NaN																	0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.e17+1		fibrillin 3 precursor							46.0	48.0	47.0					19																	8193911		2203	4300	6503	SO:0001630	splice_region_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8193911C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2296+1G>A	19.37:g.8193911C>T							p.D766_splice	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			17	2317	-								Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Splice_Site	SNP	ENST00000600128.1	37	c.2296_splice	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910973	0.33721	.	.	ENSG00000142449	ENST00000270509	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3737	0.83378	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN3	8099911	1.000000	0.71417	0.911000	0.35937	0.052000	0.14988	6.912000	0.75753	1.858000	0.53909	0.491000	0.48974	.		0.592	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2		NM_032447	Intron	17	39	0	0	0	0.008871	0	17	39		
ZNF700	90592	broad.mit.edu	37	19	12059541	12059541	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:12059541C>T	ENST00000254321.5	+	4	845	c.702C>T	c.(700-702)ttC>ttT	p.F234F	ZNF700_ENST00000482090.1_Silent_p.F216F|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCCATTCTTTCAGTTTATATC	0.348																																						uc002msu.2		NaN																	0					0						c.(700-702)TTC>TTT		zinc finger protein 700							63.0	68.0	66.0					19																	12059541		2203	4299	6502	SO:0001819	synonymous_variant	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12059541C>T	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.702C>T	19.37:g.12059541C>T						ZNF700_uc010xme.1_Silent_p.F252F|ZNF763_uc010xmf.1_Intron	p.F234F	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN			4	828	+			234			C2H2-type 2.		B9EGU4	Silent	SNP	ENST00000254321.5	37	c.702C>T	CCDS32915.1																																																																																				0.348	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2		NM_144566		22	81	0	0	0	0.012319	0	22	81		
ZSWIM4	65249	broad.mit.edu	37	19	13936478	13936478	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:13936478C>T	ENST00000254323.2	+	11	2168	c.1979C>T	c.(1978-1980)gCc>gTc	p.A660V	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.A494V	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	660							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCGGTCAGCGCCCCACCAGAC	0.677																																						uc002mxh.1		NaN																	0		p.A660A(1)		central_nervous_system(2)	2						c.(1978-1980)GCC>GTC		zinc finger, SWIM-type containing 4							37.0	40.0	39.0					19																	13936478		2203	4300	6503	SO:0001583	missense	65249						zinc ion binding	g.chr19:13936478C>T	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.1979C>T	19.37:g.13936478C>T	ENSP00000254323:p.Ala660Val					ZSWIM4_uc010xng.1_Missense_Mutation_p.A583V	p.A660V	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		11	2168	+			660						Missense_Mutation	SNP	ENST00000254323.2	37	c.1979C>T	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239107	0.22711	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.47528	0.84;0.84	4.23	3.19	0.36642	.	0.247889	0.26119	N	0.026226	T	0.35682	0.0940	L	0.40543	1.245	0.20764	N	0.999856	P;B	0.36909	0.573;0.061	B;B	0.33690	0.168;0.062	T	0.27088	-1.0084	10	0.59425	D	0.04	-26.6455	9.7492	0.40466	0.0:0.8967:0.0:0.1033	.	494;660	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	V	660;494	ENSP00000254323:A660V;ENSP00000405278:A494V	ENSP00000254323:A660V	A	+	2	0	ZSWIM4	13797478	0.006000	0.16342	0.328000	0.25416	0.200000	0.23975	1.164000	0.31810	0.991000	0.38814	-0.229000	0.12294	GCC		0.677	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1		XM_031342		30	24	0	0	0	0.013726	0	30	24		
ZNF626	199777	broad.mit.edu	37	19	20807939	20807939	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:20807939C>G	ENST00000601440.1	-	4	890	c.744G>C	c.(742-744)aaG>aaC	p.K248N	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TATGATTTCTCTTATGTGTAG	0.383																																						uc002npb.1		NaN																	0				skin(1)	1						c.(742-744)AAG>AAC		zinc finger protein 626 isoform 1							55.0	58.0	57.0					19																	20807939		2195	4296	6491	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807939C>G	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.744G>C	19.37:g.20807939C>G	ENSP00000469958:p.Lys248Asn					ZNF626_uc002npc.1_Missense_Mutation_p.K172N	p.K248N	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			4	894	-			248			C2H2-type 3.		Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.744G>C	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	8.619	0.890869	0.17613	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.798	-0.603	0.11630	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40498	0.1119	L	0.37630	1.12	0.09310	N	1	D	0.62365	0.991	D	0.74674	0.984	T	0.22695	-1.0209	8	0.59425	D	0.04	.	2.1353	0.03760	0.0:0.3366:0.3479:0.3155	.	248	Q68DY1	ZN626_HUMAN	N	248;172;248	.	ENSP00000445201:K248N	K	-	3	2	ZNF626	20599779	0.000000	0.05858	0.500000	0.27589	0.499000	0.33736	-0.260000	0.08708	0.162000	0.19483	0.165000	0.16767	AAG		0.383	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2		NM_145297		45	104	0	0	0	0.013114	0	45	104		
APLP1	333	broad.mit.edu	37	19	36369852	36369852	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:36369852C>T	ENST00000221891.4	+	15	1903	c.1711C>T	c.(1711-1713)Ctg>Ttg	p.L571L	RN7SL402P_ENST00000465059.1_RNA|APLP1_ENST00000586861.1_Silent_p.L564L|APLP1_ENST00000537454.2_Silent_p.L531L	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	570					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGGGATGAGCTGGTAAGAGG	0.582																																						uc002oce.2		NaN																	0				ovary(2)	2						c.(1708-1710)CTG>TTG		amyloid precursor-like protein 1 isoform 2							65.0	65.0	65.0					19																	36369852		2203	4300	6503	SO:0001819	synonymous_variant	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36369852C>T	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1711C>T	19.37:g.36369852C>T						APLP1_uc010xsz.1_Silent_p.L531L|APLP1_uc002ocf.2_Silent_p.L571L|APLP1_uc002ocg.2_Silent_p.L474L|APLP1_uc010xta.1_Silent_p.L564L	p.L570L	NM_005166	NP_005157	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		15	1846	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		570			Extracellular (Potential).		O00113|Q96A92	Silent	SNP	ENST00000221891.4	37	c.1708C>T	CCDS32997.1																																																																																				0.582	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1		NM_001024807		51	23	0	0	0	0.01441	0	51	23		
MEGF8	1954	broad.mit.edu	37	19	42830399	42830399	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:42830399G>A	ENST00000251268.6	+	1	4	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	MEGF8_ENST00000334370.4_Missense_Mutation_p.A2T	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGCGGCGATGGCCCTGGGCAA	0.672											OREG0025502	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002otl.3		NaN																	0				ovary(1)	1						c.(4-6)GCC>ACC		multiple EGF-like-domains 8							22.0	26.0	25.0					19																	42830399		1994	4145	6139	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42830399G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4G>A	19.37:g.42830399G>A	ENSP00000251268:p.Ala2Thr		OREG0025502	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	911		p.A2T	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			1	639	+		Prostate(69;0.00682)	2					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.4G>A		.	.	.	.	.	.	.	.	.	.	G	19.11	3.763089	0.69763	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21932	1.98;1.98	4.8	3.77	0.43336	.	.	.	.	.	T	0.19644	0.0472	L	0.36672	1.1	0.80722	D	1	P	0.37330	0.59	B	0.40565	0.333	T	0.03259	-1.1055	9	0.59425	D	0.04	-3.8167	10.6903	0.45867	0.0935:0.0:0.9065:0.0	.	2	Q7Z7M0-2	.	T	2	ENSP00000334219:A2T;ENSP00000251268:A2T	ENSP00000251268:A2T	A	+	1	0	MEGF8	47522239	1.000000	0.71417	0.990000	0.47175	0.544000	0.35116	4.495000	0.60353	1.248000	0.43934	0.453000	0.30009	GCC		0.672	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1		NM_001410		12	12	0	0	0	0.013537	0	12	12		
PSG7	5676	broad.mit.edu	37	19	43439844	43439844	+	RNA	SNP	C	C	G	rs370231373		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:43439844C>G	ENST00000406070.2	-	0	238				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				ACATCCTTCCCCTCGGAAACT	0.488																																						uc002ovl.3		NaN																	0					0						c.(142-144)GGG>CGG		pregnancy specific beta-1-glycoprotein 7							138.0	145.0	143.0					19																	43439844		2201	4297	6498			5676				female pregnancy	extracellular region		g.chr19:43439844C>G			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439844C>G						PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron	p.G48R	NM_002783	NP_002774	Q13046	PSG7_HUMAN			2	244	-		Prostate(69;0.00682)	48			Ig-like V-type.		Q15232	Missense_Mutation	SNP	ENST00000406070.2	37	c.142G>C																																																																																					0.488	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2		NM_001206650		41	294	0	0	0	0.01441	0	41	294		
IRGQ	126298	broad.mit.edu	37	19	44099434	44099434	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:44099434C>T	ENST00000602269.1	-	1	242	c.57G>A	c.(55-57)ggG>ggA	p.G19G	SRRM5_ENST00000526798.1_5'Flank|ZNF576_ENST00000525771.1_5'Flank|SRRM5_ENST00000607544.1_5'Flank|IRGQ_ENST00000422989.1_Silent_p.G19G|L34079.2_ENST00000594374.1_5'Flank|ZNF576_ENST00000336564.4_5'Flank|ZNF576_ENST00000528387.1_5'Flank|ZNF576_ENST00000529930.1_5'Flank|ZNF576_ENST00000391965.2_5'Flank|IRGQ_ENST00000601520.1_5'Flank|ZNF576_ENST00000533118.1_5'Flank			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	19										endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCGCGGACTTCCCCAAGCCCG	0.682																																						uc002oww.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(55-57)GGG>GGA		immunity-related GTPase family, Q							31.0	29.0	30.0					19																	44099434		2108	4168	6276	SO:0001819	synonymous_variant	126298						protein binding	g.chr19:44099434C>T	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.57G>A	19.37:g.44099434C>T						IRGQ_uc010eiv.2_Silent_p.G19G|ZNF576_uc002owy.2_5'Flank|ZNF576_uc002owz.2_5'Flank|SRRM5_uc002oxb.2_5'Flank	p.G19G	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN			1	175	-		Prostate(69;0.0199)	19					B2RNP3	Silent	SNP	ENST00000602269.1	37	c.57G>A	CCDS33040.1																																																																																				0.682	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1		NM_001007561		14	48	0	0	0	0.020292	0	14	48		
PVRL2	5819	broad.mit.edu	37	19	45375390	45375390	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:45375390G>A	ENST00000252483.5	+	3	759	c.759G>A	c.(757-759)gtG>gtA	p.V253V	PVRL2_ENST00000252485.4_Silent_p.V253V	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	253	Ig-like C2-type 1.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGATACCTGTGACCCTCTCTG	0.567																																						uc002ozw.1		NaN																	0					0						c.(757-759)GTG>GTA		poliovirus receptor related 2 isoform delta							175.0	129.0	144.0					19																	45375390		2203	4300	6503	SO:0001819	synonymous_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45375390G>A	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.759G>A	19.37:g.45375390G>A						PVRL2_uc002ozv.2_Silent_p.V253V	p.V253V	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	3	1149	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	253			Ig-like C2-type 1.|Extracellular (Potential).		A8K5L5|O75455|Q6IBI6|Q96J29	Silent	SNP	ENST00000252483.5	37	c.759G>A	CCDS42576.1																																																																																				0.567	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1		NM_002856		17	93	0	0	0	0.00499	0	17	93		
CCDC114	93233	broad.mit.edu	37	19	48800570	48800570	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:48800570T>C	ENST00000315396.7	-	14	2358	c.1676A>G	c.(1675-1677)cAc>cGc	p.H559R		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	559					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AAAAGTGACGTGGCCAAGAGA	0.637																																						uc002pir.2		NaN																	0				ovary(1)	1						c.(1675-1677)CAC>CGC		coiled-coil domain containing 114 isoform 2							52.0	54.0	53.0					19																	48800570		2203	4300	6503	SO:0001583	missense	93233							g.chr19:48800570T>C	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1676A>G	19.37:g.48800570T>C	ENSP00000318429:p.His559Arg					CCDC114_uc002piq.2_Missense_Mutation_p.H368R|CCDC114_uc002pio.2_3'UTR	p.H559R	NM_144577	NP_653178	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	14	2359	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	559					Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.1676A>G	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	C	0.060	-1.226002	0.01518	.	.	ENSG00000105479	ENST00000315396	T	0.23348	1.91	3.97	-3.05	0.05396	.	.	.	.	.	T	0.08846	0.0219	N	0.11201	0.11	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37663	-0.9696	9	0.02654	T	1	-8.0776	5.4851	0.16745	0.1573:0.1926:0.0:0.6501	.	559	Q96M63	CC114_HUMAN	R	559	ENSP00000318429:H559R	ENSP00000318429:H559R	H	-	2	0	CCDC114	53492382	0.001000	0.12720	0.013000	0.15412	0.009000	0.06853	-1.175000	0.03102	-0.571000	0.06014	-0.215000	0.12644	CAC		0.637	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1		NM_144577		18	21	0	0	0	0.008871	0	18	21		
IZUMO2	126123	broad.mit.edu	37	19	50666011	50666011	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:50666011C>A	ENST00000293405.3	-	2	292	c.292G>T	c.(292-294)Ggt>Tgt	p.G98C		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	98						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						AGAGAGTTACCCATTAAGTGC	0.537																																						uc002prp.1		NaN																	0					0						c.(292-294)GGT>TGT		hypothetical protein LOC126123 precursor							134.0	131.0	132.0					19																	50666011		2001	4164	6165	SO:0001583	missense	126123					integral to membrane		g.chr19:50666011C>A	AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"""-"""	28518	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 41"""	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.292G>T	19.37:g.50666011C>A	ENSP00000293405:p.Gly98Cys						p.G98C	NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN		GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052)	2	379	-		all_neural(266;0.0459)|Ovarian(192;0.0728)	98			Extracellular (Potential).		Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	ENST00000293405.3	37	c.292G>T	CCDS12792.2	.	.	.	.	.	.	.	.	.	.	C	8.755	0.922279	0.17982	.	.	ENSG00000161652	ENST00000293405;ENST00000377000	T	0.22945	1.93	3.9	-3.84	0.04256	.	3.372590	0.00792	N	0.001346	T	0.13243	0.0321	N	0.14661	0.345	0.09310	N	1	P	0.34546	0.456	B	0.34242	0.178	T	0.09443	-1.0674	10	0.54805	T	0.06	.	0.9847	0.01443	0.1564:0.3054:0.1531:0.3851	.	98	Q6UXV1	IZUM2_HUMAN	C	98	ENSP00000293405:G98C	ENSP00000293405:G98C	G	-	1	0	IZUMO2	55357823	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.467000	0.06664	-0.572000	0.06006	-0.127000	0.14921	GGT		0.537	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1		NM_152358		31	67	1	0	1.06647e-15	0.017118	1.14365e-15	31	67		
LILRB2	10288	broad.mit.edu	37	19	54782754	54782754	+	Missense_Mutation	SNP	A	A	G	rs143661416	byFrequency	TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:54782754A>G	ENST00000391749.4	-	6	1139	c.868T>C	c.(868-870)Tac>Cac	p.Y290H	LILRB2_ENST00000434421.1_Missense_Mutation_p.Y174H|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000314446.5_Missense_Mutation_p.Y290H|LILRB2_ENST00000391748.1_Missense_Mutation_p.Y290H|LILRB2_ENST00000391746.1_Missense_Mutation_p.Y290H	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	290	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.Y290H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGCCCCCGTAGGAGCGGCTC	0.667													.|||	34	0.00678914	0.0242	0.0	5008	,	,		13942	0.0		0.0	False		,,,				2504	0.002					uc002qfb.2		NaN																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(868-870)TAC>CAC		leukocyte immunoglobulin-like receptor,		G	HIS/TYR,HIS/TYR	64,4342	56.8+/-93.2	0,64,2139	38.0	39.0	38.0		868,868	1.2	0.0	19	dbSNP_134	38	0,8594		0,0,4297	no	missense,missense	LILRB2	NM_001080978.2,NM_005874.3	83,83	0,64,6436	GG,GA,AA		0.0,1.4526,0.4923	benign,benign	290/598,290/599	54782754	64,12936	2203	4297	6500	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54782754A>G	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.868T>C	19.37:g.54782754A>G	ENSP00000375629:p.Tyr290His					LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.Y290H|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.Y290H|LILRB2_uc010yet.1_Missense_Mutation_p.Y174H|LILRB2_uc010yeu.1_RNA	p.Y290H	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1134	-	Ovarian(34;0.19)		290			Extracellular (Potential).|Ig-like C2-type 3.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.868T>C	CCDS12886.1	17	0.007783882783882784	14	0.028455284552845527	1	0.0027624309392265192	1	0.0017482517482517483	1	0.0013192612137203166	a	0.428	-0.904850	0.02453	0.014526	0.0	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.00659	5.94;5.94;5.94;5.94;5.94	2.34	1.16	0.20824	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.827507	0.10311	N	0.690011	T	0.00073	0.0002	N	0.00113	-2.09	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.13407	0.004;0.009;0.006	T	0.43718	-0.9374	10	0.02654	T	1	.	2.8778	0.05638	0.167:0.0:0.5651:0.2679	.	290;307;290	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	H	290;290;290;290;174	ENSP00000375628:Y290H;ENSP00000319960:Y290H;ENSP00000375629:Y290H;ENSP00000375626:Y290H;ENSP00000410117:Y174H	ENSP00000319960:Y290H	Y	-	1	0	LILRB2	59474566	0.000000	0.05858	0.000000	0.03702	0.568000	0.35870	-0.718000	0.04980	-0.084000	0.12595	-0.386000	0.06593	TAC		0.667	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1				13	52	0	0	0	0.00499	0	13	52		
KIR2DL3	3804	broad.mit.edu	37	19	55263182	55263182	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:55263182A>T	ENST00000342376.3	+	6	828	c.797A>T	c.(796-798)cAt>cTt	p.H266L	KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	266					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		tttctccttcATCGCTGGTGC	0.527																																						uc002qgv.2		NaN																	0				ovary(2)	2						c.(796-798)CAT>CTT		killer cell immunoglobulin-like receptor, two							116.0	94.0	102.0					19																	55263182		1402	2548	3950	SO:0001583	missense	3804				immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity	g.chr19:55263182A>T	L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.797A>T	19.37:g.55263182A>T	ENSP00000342215:p.His266Leu					KIR2DL3_uc002qgx.2_Missense_Mutation_p.H266L|KIR2DL3_uc002qgy.2_Missense_Mutation_p.H168L|KIR2DL3_uc010erw.1_Missense_Mutation_p.H266L|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron	p.H266L	NM_015868	NP_056952	P43628	KI2L3_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	6	815	+			266			Cytoplasmic (Potential).		O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	ENST00000342376.3	37	c.797A>T	CCDS33107.1	.	.	.	.	.	.	.	.	.	.	A	6.869	0.529786	0.13127	.	.	ENSG00000243772	ENST00000342376	T	0.00452	7.34	0.635	0.635	0.17723	.	.	.	.	.	T	0.00412	0.0013	L	0.56124	1.755	0.09310	N	0.999998	P;B;B;B	0.37985	0.613;0.038;0.441;0.441	B;B;B;B	0.41466	0.358;0.039;0.197;0.197	T	0.44817	-0.9303	8	0.87932	D	0	.	.	.	.	.	266;168;266;266	E3NZD7;P43628-2;P43628;E3NZD8	.;.;KI2L3_HUMAN;.	L	266	ENSP00000342215:H266L	ENSP00000342215:H266L	H	+	2	0	KIR2DL3	59954994	0.000000	0.05858	0.073000	0.20177	0.034000	0.12701	-0.190000	0.09615	0.516000	0.28340	0.248000	0.18094	CAT		0.527	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1				62	115	0	0	0	0.01441	0	62	115		
SYT5	6861	broad.mit.edu	37	19	55689707	55689707	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:55689707G>T	ENST00000354308.3	-	3	478	c.109C>A	c.(109-111)Ctg>Atg	p.L37M	SYT5_ENST00000590851.1_Intron|SYT5_ENST00000537500.1_Missense_Mutation_p.L37M|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	37					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCTGAGACCAGCACGATGGTG	0.617																																						uc002qjm.1		NaN																	0					0						c.(109-111)CTG>ATG		synaptotagmin V							24.0	24.0	24.0					19																	55689707		2203	4300	6503	SO:0001583	missense	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55689707G>T	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.109C>A	19.37:g.55689707G>T	ENSP00000346265:p.Leu37Met					SYT5_uc002qjp.2_Intron|SYT5_uc002qjn.1_Missense_Mutation_p.L37M|SYT5_uc002qjo.1_Missense_Mutation_p.L37M	p.L37M	NM_003180	NP_003171	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	2	1169	-			37			Helical; (Potential).		B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	c.109C>A	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642813	0.47153	.	.	ENSG00000129990	ENST00000537500;ENST00000354308	T;T	0.54866	0.55;0.55	4.06	1.69	0.24217	.	0.275196	0.33346	N	0.005020	T	0.37489	0.1005	L	0.34521	1.04	0.38303	D	0.943033	P;P	0.50617	0.937;0.748	B;B	0.43575	0.424;0.308	T	0.36163	-0.9759	10	0.66056	D	0.02	.	4.9578	0.14050	0.1106:0.0:0.5162:0.3733	.	37;37	Q4FD32;O00445	.;SYT5_HUMAN	M	37	ENSP00000442896:L37M;ENSP00000346265:L37M	ENSP00000346265:L37M	L	-	1	2	SYT5	60381519	0.989000	0.36119	0.992000	0.48379	0.883000	0.51084	2.385000	0.44371	1.019000	0.39547	-0.258000	0.10820	CTG		0.617	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1		NM_003180		9	5	1	0	2.74318e-10	0.006214	2.88476e-10	9	5		
PKDCC	91461	broad.mit.edu	37	2	42284440	42284440	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:42284440C>T	ENST00000294964.5	+	6	1482	c.1302C>T	c.(1300-1302)ctC>ctT	p.L434L	PKDCC_ENST00000480099.1_3'UTR	NM_138370.2	NP_612379.2			protein kinase domain containing, cytoplasmic											breast(2)|kidney(1)|lung(5)	8						GGAGCTGCCTCCTTTCAGTGT	0.592																																						uc002rsg.2		NaN																	0				breast(1)	1						c.(1300-1302)CTC>CTT		protein kinase-like protein SgK493							125.0	116.0	119.0					2																	42284440		2203	4300	6503	SO:0001819	synonymous_variant	91461				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity	g.chr2:42284440C>T		CCDS33186.2	2p21	2014-01-28	2012-12-07		ENSG00000162878	ENSG00000162878			25123	protein-coding gene	gene with protein product	"""vertebrate lonesome kinase"""	614150	"""protein kinase domain containing, cytoplasmic homolog (mouse)"""			19097194, 19465597	Standard	NM_138370		Approved	SgK493, Vlk	uc002rsg.3	Q504Y2	OTTHUMG00000152303	ENST00000294964.5:c.1302C>T	2.37:g.42284440C>T							p.L434L	NM_138370	NP_612379	Q504Y2	PKDCC_HUMAN			6	1481	+			434			Protein kinase.			Silent	SNP	ENST00000294964.5	37	c.1302C>T	CCDS33186.2																																																																																				0.592	PKDCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325745.3				39	119	0	0	0	0.007835	0	39	119		
PPM1B	5495	broad.mit.edu	37	2	44429053	44429053	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:44429053A>G	ENST00000282412.4	+	2	1127	c.715A>G	c.(715-717)Atc>Gtc	p.I239V	PPM1B_ENST00000378551.2_Missense_Mutation_p.I239V|PPM1B_ENST00000409432.3_Missense_Mutation_p.I239V|PPM1B_ENST00000409895.4_Missense_Mutation_p.I239V|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000378540.4_3'UTR	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	239					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGAATTTATCATCTTGGCTTG	0.408																																						uc002rtt.2		NaN																	0				kidney(1)|skin(1)	2						c.(715-717)ATC>GTC		protein phosphatase 1B isoform 1							115.0	113.0	114.0					2																	44429053		2203	4300	6503	SO:0001583	missense	5495				protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr2:44429053A>G	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.715A>G	2.37:g.44429053A>G	ENSP00000282412:p.Ile239Val					PPM1B_uc002rts.2_Missense_Mutation_p.I239V|PPM1B_uc002rtu.2_Missense_Mutation_p.I239V|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.I239V|PPM1B_uc002rtx.2_Missense_Mutation_p.I239V	p.I239V	NM_002706	NP_002697	O75688	PPM1B_HUMAN			2	1143	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	239					Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	c.715A>G	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	A	0.332	-0.955605	0.02267	.	.	ENSG00000138032	ENST00000419807;ENST00000409895;ENST00000409432;ENST00000282412;ENST00000378551	T;T;T;T;T	0.09163	3.01;3.01;3.01;3.01;3.01	5.68	-0.574	0.11738	Protein phosphatase 2C-like (5);	0.400118	0.30979	N	0.008489	T	0.03220	0.0094	N	0.02775	-0.495	0.34659	D	0.722457	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.14023	0.01;0.002;0.002;0.002;0.002	T	0.49133	-0.8971	10	0.02654	T	1	-2.2284	10.7593	0.46256	0.577:0.0:0.423:0.0	.	239;239;239;239;239	Q4J6C0;O75688-2;Q4J6C1;O75688;Q4J6C2	.;.;.;PPM1B_HUMAN;.	V	239	ENSP00000390087:I239V;ENSP00000387341:I239V;ENSP00000387287:I239V;ENSP00000282412:I239V;ENSP00000367813:I239V	ENSP00000282412:I239V	I	+	1	0	PPM1B	44282557	0.999000	0.42202	0.995000	0.50966	0.990000	0.78478	1.804000	0.38873	-0.102000	0.12197	-0.264000	0.10439	ATC		0.408	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1		NM_002706		38	61	0	0	0	0.007835	0	38	61		
SLC4A5	57835	broad.mit.edu	37	2	74474321	74474321	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:74474321C>T	ENST00000377634.4	-	19	2300	c.1901G>A	c.(1900-1902)cGc>cAc	p.R634H	SLC4A5_ENST00000358683.4_Missense_Mutation_p.R570H|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.R634H|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R634H|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R634H|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R634H|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R634H|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R570H					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CTCGGTGAAGCGGGTGATATA	0.488																																						uc002sko.1		NaN																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						c.(1900-1902)CGC>CAC		sodium bicarbonate transporter 4 isoform a							184.0	184.0	184.0					2																	74474321		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74474321C>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1901G>A	2.37:g.74474321C>T	ENSP00000366861:p.Arg634His					SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.R634H|SLC4A5_uc010ffc.1_Missense_Mutation_p.R634H|SLC4A5_uc002skp.1_Missense_Mutation_p.R570H|SLC4A5_uc002sks.1_Missense_Mutation_p.R634H	p.R634H	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN			14	1903	-			634			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377634.4	37	c.1901G>A	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614854	0.87359	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	D;D;D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.17	4.29	0.51040	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92990	0.7769	H	0.94847	3.59	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999	D	0.94396	0.7618	10	0.87932	D	0	.	12.9486	0.58388	0.1629:0.8371:0.0:0.0	.	634;634;570;634;634	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	H	634;634;634;570;634;570;634;634;634;634	ENSP00000377587:R634H;ENSP00000251768:R634H;ENSP00000352461:R570H;ENSP00000395804:R634H;ENSP00000351513:R570H;ENSP00000350475:R634H;ENSP00000366859:R634H;ENSP00000366861:R634H;ENSP00000405678:R634H	ENSP00000251768:R634H	R	-	2	0	SLC4A5	74327829	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	1.397000	0.46682	0.655000	0.94253	CGC		0.488	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3				22	190	0	0	0	0.014323	0	22	190		
MRPL35	51318	broad.mit.edu	37	2	86434368	86434368	+	Missense_Mutation	SNP	C	C	T	rs201070030		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:86434368C>T	ENST00000337109.4	+	3	330	c.296C>T	c.(295-297)gCa>gTa	p.A99V	MRPL35_ENST00000409180.1_Missense_Mutation_p.A99V|MRPL35_ENST00000605125.1_Intron|MRPL35_ENST00000254644.8_Missense_Mutation_p.A99V	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	99					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						TACTTCAGTGCAAGAAAAGGC	0.418																																						uc002srg.3		NaN																	0					0						c.(295-297)GCA>GTA		mitochondrial ribosomal protein L35 isoform a							74.0	70.0	71.0					2																	86434368		2203	4300	6503	SO:0001583	missense	51318				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr2:86434368C>T	AF208849	CCDS1987.1, CCDS1988.1	2p11.2	2012-09-13			ENSG00000132313	ENSG00000132313		"""Mitochondrial ribosomal proteins / large subunits"""	14489	protein-coding gene	gene with protein product		611841				11042152, 11551941	Standard	NM_016622		Approved		uc002srg.4	Q9NZE8	OTTHUMG00000037385	ENST00000337109.4:c.296C>T	2.37:g.86434368C>T	ENSP00000338389:p.Ala99Val					MRPL35_uc002srf.3_Missense_Mutation_p.A99V	p.A99V	NM_016622	NP_057706	Q9NZE8	RM35_HUMAN			3	354	+			99					A6NKV6|B2RB93|Q658U7|Q8WWA2	Missense_Mutation	SNP	ENST00000337109.4	37	c.296C>T	CCDS1988.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	12.46	1.944811	0.34283	.	.	ENSG00000132313	ENST00000254644;ENST00000337109;ENST00000409180	T;T;T	0.13657	2.57;2.8;2.57	5.13	4.0	0.46444	.	0.774593	0.12437	N	0.469055	T	0.03827	0.0108	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47045	-0.9147	10	0.02654	T	1	-0.1246	4.0232	0.09675	0.0:0.6644:0.0:0.3356	.	99	Q9NZE8	RM35_HUMAN	V	99	ENSP00000254644:A99V;ENSP00000338389:A99V;ENSP00000386255:A99V	ENSP00000254644:A99V	A	+	2	0	MRPL35	86287879	0.201000	0.23410	0.007000	0.13788	0.880000	0.50808	1.753000	0.38359	2.566000	0.86566	0.644000	0.83932	GCA		0.418	MRPL35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091002.2		NM_016622		9	60	0	0	0	0.008291	0	9	60		
KANSL3	55683	broad.mit.edu	37	2	97268530	97268530	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:97268530G>A	ENST00000431828.1	-	18	2295	c.2219C>T	c.(2218-2220)tCt>tTt	p.S740F	KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000440133.1_Missense_Mutation_p.S560F|KANSL3_ENST00000599854.1_Missense_Mutation_p.S653F|KANSL3_ENST00000487070.1_5'UTR			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	766	Ser-rich.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TGGAAGGCCAGAGGTCTTGCT	0.592																																						uc002swn.3		NaN																	0					0						c.(2218-2220)TCT>TTT		hypothetical protein LOC55683 isoform a							115.0	124.0	121.0					2																	97268530		2062	4211	6273	SO:0001583	missense	55683							g.chr2:97268530G>A	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.2219C>T	2.37:g.97268530G>A	ENSP00000396749:p.Ser740Phe					KIAA1310_uc002swh.3_Missense_Mutation_p.S626F|KIAA1310_uc002swi.3_Missense_Mutation_p.S667F|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Missense_Mutation_p.S653F|KIAA1310_uc010fhz.2_Missense_Mutation_p.S560F|KIAA1310_uc002swl.3_Missense_Mutation_p.S639F|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_Missense_Mutation_p.S534F|KIAA1310_uc002swo.2_Missense_Mutation_p.S88F	p.S740F	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN			18	2365	-			766			Ser-rich.		A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	c.2219C>T	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017805	0.75161	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000440133;ENST00000444759	T;T	0.54279	0.59;0.58	5.95	5.95	0.96441	.	0.393226	0.29565	N	0.011790	T	0.49184	0.1542	N	0.14661	0.345	0.80722	D	1	B;P;P;P;P	0.47409	0.145;0.895;0.873;0.873;0.731	B;P;P;P;B	0.49999	0.177;0.548;0.628;0.628;0.421	T	0.54296	-0.8315	10	0.72032	D	0.01	.	17.887	0.88858	0.0:0.0:1.0:0.0	.	534;766;740;651;626	B4E1W4;Q9P2N6;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;K1310_HUMAN;.;.;.	F	653;626;740;560;534	ENSP00000396749:S740F;ENSP00000406207:S560F	ENSP00000346144:S653F	S	-	2	0	KIAA1310	96632257	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.082000	0.76851	2.824000	0.97209	0.655000	0.94253	TCT		0.592	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2		NM_017991		24	104	0	0	0	0.00632	0	24	104		
MAP4K4	9448	broad.mit.edu	37	2	102460640	102460640	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:102460640C>T	ENST00000347699.4	+	12	1100	c.1100C>T	c.(1099-1101)tCc>tTc	p.S367F	MAP4K4_ENST00000350198.4_Missense_Mutation_p.S367F|MAP4K4_ENST00000413150.2_Missense_Mutation_p.S367F|MAP4K4_ENST00000350878.4_Missense_Mutation_p.S347F|MAP4K4_ENST00000324219.4_Missense_Mutation_p.S367F|MAP4K4_ENST00000302217.5_Missense_Mutation_p.S220F|MAP4K4_ENST00000456652.1_Missense_Mutation_p.S220F|MAP4K4_ENST00000425019.1_Missense_Mutation_p.S367F	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	367					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAGGAACGTTCCGAGGCTCTT	0.512																																						uc002tbg.2		NaN																	0				stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1099-1101)TCC>TTC		mitogen-activated protein kinase kinase kinase							61.0	56.0	58.0					2																	102460640		1942	4144	6086	SO:0001583	missense	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102460640C>T	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.1100C>T	2.37:g.102460640C>T	ENSP00000314363:p.Ser367Phe					MAP4K4_uc002tbc.2_Missense_Mutation_p.S367F|MAP4K4_uc002tbd.2_Missense_Mutation_p.S367F|MAP4K4_uc002tbe.2_Missense_Mutation_p.S367F|MAP4K4_uc002tbf.2_Missense_Mutation_p.S367F|MAP4K4_uc010yvy.1_Missense_Mutation_p.S367F|MAP4K4_uc002tbh.2_Missense_Mutation_p.S367F|MAP4K4_uc002tbi.2_Missense_Mutation_p.S220F|MAP4K4_uc010yvz.1_Missense_Mutation_p.S347F|MAP4K4_uc002tbk.2_5'UTR|MAP4K4_uc002tbj.1_Missense_Mutation_p.S263F	p.S367F	NM_145687	NP_663720	O95819	M4K4_HUMAN			12	1155	+			367					O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	c.1100C>T	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254393	0.80135	.	.	ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878	T;T;T;T;T;T;T;T;T	0.76186	0.94;-0.86;0.93;4.24;0.93;4.24;-0.84;-1.0;-0.84	5.96	5.96	0.96718	.	0.061095	0.64402	D	0.000002	D	0.86793	0.6018	M	0.75615	2.305	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.67145	0.996;0.99;0.996;0.99;0.994;0.99;0.99;0.994;0.994;0.994	D;D;D;D;D;D;D;D;D;D	0.77004	0.982;0.974;0.982;0.974;0.989;0.974;0.974;0.989;0.989;0.989	D	0.85759	0.1348	10	0.51188	T	0.08	.	20.3928	0.98949	0.0:1.0:0.0:0.0	.	347;367;347;220;367;367;367;367;367;367	B7Z388;B7Z3V5;E7ESS2;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.;.;.;.;.;M4K4_HUMAN;.;.;.;.	F	367;367;367;220;367;220;367;329;347	ENSP00000392830:S367F;ENSP00000313644:S367F;ENSP00000281111:S367F;ENSP00000303600:S220F;ENSP00000389752:S367F;ENSP00000387370:S220F;ENSP00000314363:S367F;ENSP00000409720:S329F;ENSP00000343658:S347F	ENSP00000303600:S220F	S	+	2	0	MAP4K4	101827072	1.000000	0.71417	0.781000	0.31783	0.997000	0.91878	7.809000	0.86057	2.813000	0.96785	0.655000	0.94253	TCC		0.512	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1		NM_004834		5	28	0	0	0	0.014758	0	5	28		
ANAPC1	64682	broad.mit.edu	37	2	112621282	112621282	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:112621282G>A	ENST00000341068.3	-	9	1794	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	341					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AATAGAAGGTGAGCGAGAATG	0.428																																						uc002thi.2		NaN																	0				skin(2)	2						c.(1021-1023)TCA>TTA		anaphase promoting complex subunit 1							59.0	61.0	60.0					2																	112621282		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112621282G>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1022C>T	2.37:g.112621282G>A	ENSP00000339109:p.Ser341Leu						p.S341L	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			9	1269	-			341					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1022C>T	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870074	0.91587	.	.	ENSG00000153107	ENST00000341068	.	.	.	5.68	5.68	0.88126	.	0.000000	0.34603	U	0.003831	T	0.74839	0.3769	L	0.54323	1.7	0.58432	D	0.999997	D	0.57899	0.981	D	0.69824	0.966	T	0.67425	-0.5674	9	0.18276	T	0.48	-20.1632	19.7838	0.96428	0.0:0.0:1.0:0.0	.	341	Q9H1A4	APC1_HUMAN	L	341	.	ENSP00000339109:S341L	S	-	2	0	ANAPC1	112337753	1.000000	0.71417	0.861000	0.33841	0.837000	0.47467	7.810000	0.86072	2.664000	0.90586	0.650000	0.86243	TCA		0.428	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2		NM_022662		17	107	0	0	0	0.007413	0	17	107		
GPR148	344561	broad.mit.edu	37	2	131487541	131487541	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:131487541T>C	ENST00000309926.4	+	1	899	c.817T>C	c.(817-819)Tac>Cac	p.Y273H		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GATCACATTGTACGTGAGCAC	0.582																																						uc002trv.1		NaN																	0				skin(1)	1						c.(817-819)TAC>CAC		G protein-coupled receptor 148							158.0	127.0	137.0					2																	131487541		2203	4300	6503	SO:0001583	missense	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131487541T>C	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.817T>C	2.37:g.131487541T>C	ENSP00000308908:p.Tyr273His						p.Y273H	NM_207364	NP_997247	Q8TDV2	GP148_HUMAN			1	819	+	Colorectal(110;0.1)		273			Helical; Name=6; (Potential).		Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	c.817T>C	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	13.01	2.110597	0.37242	.	.	ENSG00000173302	ENST00000309926	T	0.37584	1.19	3.37	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.112416	0.36893	N	0.002343	T	0.36799	0.0980	N	0.24115	0.695	0.09310	N	0.999993	D	0.89917	1.0	D	0.91635	0.999	T	0.19386	-1.0307	10	0.17832	T	0.49	-2.4277	6.7238	0.23345	0.0:0.1227:0.0:0.8773	.	273	Q8TDV2	GP148_HUMAN	H	273	ENSP00000308908:Y273H	ENSP00000308908:Y273H	Y	+	1	0	GPR148	131204011	1.000000	0.71417	0.143000	0.22291	0.557000	0.35523	2.520000	0.45554	0.343000	0.23821	0.379000	0.24179	TAC		0.582	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3		XM_293092		76	75	0	0	0	0.01441	0	76	75		
FAM168B	130074	broad.mit.edu	37	2	131812980	131812980	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:131812980G>A	ENST00000409185.1	-	5	447	c.340C>T	c.(340-342)Cac>Tac	p.H114Y	FAM168B_ENST00000389915.3_Missense_Mutation_p.H114Y	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	114						cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|lung(2)	5						TGGATGACGTGAGGAGGTGCT	0.617																																						uc002tsd.2		NaN																	0					0						c.(340-342)CAC>TAC		hypothetical protein LOC130074							149.0	171.0	164.0					2																	131812980		2179	4266	6445	SO:0001583	missense	130074							g.chr2:131812980G>A		CCDS42755.1	2q21.1	2008-08-08			ENSG00000152102	ENSG00000152102			27016	protein-coding gene	gene with protein product							Standard	NM_001009993		Approved	KIAA0280L	uc002tsd.3	A1KXE4	OTTHUMG00000153473	ENST00000409185.1:c.340C>T	2.37:g.131812980G>A	ENSP00000387051:p.His114Tyr						p.H114Y	NM_001009993	NP_001009993	A1KXE4	F168B_HUMAN			5	569	-			114					Q2TAZ6|Q6NZ40	Missense_Mutation	SNP	ENST00000409185.1	37	c.340C>T	CCDS42755.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673269	0.88445	.	.	ENSG00000152102	ENST00000409185;ENST00000389915	.	.	.	5.3	5.3	0.74995	.	0.046929	0.85682	D	0.000000	T	0.70055	0.3180	L	0.36672	1.1	0.80722	D	1	P	0.42039	0.769	P	0.61397	0.888	T	0.64262	-0.6449	9	0.27082	T	0.32	-15.4098	16.8062	0.85706	0.0:0.0:1.0:0.0	.	114	A1KXE4	F168B_HUMAN	Y	114	.	ENSP00000374565:H114Y	H	-	1	0	FAM168B	131529450	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.249000	0.95470	2.631000	0.89168	0.561000	0.74099	CAC		0.617	FAM168B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331299.2		NM_001009993		64	69	0	0	0	0.01441	0	64	69		
NCKAP5	344148	broad.mit.edu	37	2	133540922	133540922	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:133540922C>G	ENST00000409261.1	-	14	3835	c.3462G>C	c.(3460-3462)atG>atC	p.M1154I	NCKAP5_ENST00000317721.6_Missense_Mutation_p.M1154I|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1154										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGGGAGACTTCATGAGCACTT	0.488																																						uc002ttp.2		NaN																	0					0						c.(3460-3462)ATG>ATC		Nck-associated protein 5 isoform 1							101.0	101.0	101.0					2																	133540922		1987	4154	6141	SO:0001583	missense	344148						protein binding	g.chr2:133540922C>G	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3462G>C	2.37:g.133540922C>G	ENSP00000387128:p.Met1154Ile					NCKAP5_uc002ttq.2_Intron	p.M1154I	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	3836	-			1154					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.3462G>C	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	9.893	1.204656	0.22205	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09163	3.01;3.01	5.26	0.743	0.18347	.	0.206931	0.23279	U	0.049921	T	0.06005	0.0156	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35201	-0.9798	10	0.29301	T	0.29	.	2.7162	0.05188	0.148:0.2099:0.4845:0.1577	.	1154	O14513	NCKP5_HUMAN	I	1154	ENSP00000387128:M1154I;ENSP00000380603:M1154I	ENSP00000380603:M1154I	M	-	3	0	NCKAP5	133257392	0.926000	0.31397	1.000000	0.80357	0.900000	0.52787	-0.105000	0.10907	0.287000	0.22375	-0.150000	0.13652	ATG		0.488	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1		NM_207481		34	102	0	0	0	0.013726	0	34	102		
LRP1B	53353	broad.mit.edu	37	2	141245258	141245258	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:141245258G>C	ENST00000389484.3	-	58	10142	c.9171C>G	c.(9169-9171)atC>atG	p.I3057M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3057					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGATCCAATAGATGAATTCTT	0.308										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NaN																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(9169-9171)ATC>ATG		low density lipoprotein-related protein 1B							85.0	88.0	87.0					2																	141245258		2203	4296	6499	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141245258G>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9171C>G	2.37:g.141245258G>C	ENSP00000374135:p.Ile3057Met	TSP Lung(27;0.18)					p.I3057M	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	58	10143	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3057			Extracellular (Potential).|LDL-receptor class B 28.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.9171C>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435932	0.62955	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96554	-4.05	5.61	2.73	0.32206	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	U	0.000000	D	0.96309	0.8796	L	0.60067	1.865	0.39684	D	0.970948	D	0.69078	0.997	D	0.68621	0.959	D	0.94235	0.7480	10	0.40728	T	0.16	.	5.7151	0.17956	0.2699:0.0:0.6012:0.1289	.	3057	Q9NZR2	LRP1B_HUMAN	M	3057;2995	ENSP00000374135:I3057M	ENSP00000374135:I3057M	I	-	3	3	LRP1B	140961728	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.474000	0.35398	0.684000	0.31448	0.650000	0.86243	ATC		0.308	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557		38	80	0	0	0	0.021022	0	38	80		
FAP	2191	broad.mit.edu	37	2	163075644	163075644	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:163075644G>A	ENST00000188790.4	-	8	743	c.536C>T	c.(535-537)cCa>cTa	p.P179L	FAP_ENST00000443424.1_Missense_Mutation_p.P154L	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TTGAAAAGGTGGATCTCCTGG	0.328																																						uc002ucd.2		NaN																	0				ovary(3)	3						c.(535-537)CCA>CTA		fibroblast activation protein, alpha subunit							99.0	105.0	103.0					2																	163075644		2203	4294	6497	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163075644G>A	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.536C>T	2.37:g.163075644G>A	ENSP00000188790:p.Pro179Leu					FAP_uc010zct.1_Missense_Mutation_p.P154L|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Missense_Mutation_p.P146L	p.P179L	NM_004460	NP_004451	Q12884	SEPR_HUMAN			8	744	-			179			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000188790.4	37	c.536C>T	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492866	0.64074	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	D;T	0.95788	-3.81;1.59	5.86	4.99	0.66335	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.368768	0.30771	N	0.008908	D	0.91952	0.7451	L	0.29908	0.895	0.58432	D	0.999992	B;B;B	0.18166	0.006;0.026;0.015	B;B;B	0.20577	0.03;0.02;0.013	D	0.88786	0.3274	10	0.49607	T	0.09	-17.8091	15.3033	0.73972	0.067:0.0:0.933:0.0	.	154;179;179	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	L	179;154	ENSP00000188790:P179L;ENSP00000411391:P154L	ENSP00000188790:P179L	P	-	2	0	FAP	162783890	0.985000	0.35326	1.000000	0.80357	0.999000	0.98932	1.424000	0.34848	1.628000	0.50416	0.650000	0.86243	CCA		0.328	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2				84	90	0	0	0	0.01441	0	84	90		
IFIH1	64135	broad.mit.edu	37	2	163144789	163144789	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:163144789C>G	ENST00000263642.2	-	5	1346	c.951G>C	c.(949-951)caG>caC	p.Q317H		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	317	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.Q317H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CCAAGGCTGGCTGGGCAACTT	0.478																																						uc002uce.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(949-951)CAG>CAC		interferon induced with helicase C domain 1							92.0	88.0	89.0					2																	163144789		2203	4300	6503	SO:0001583	missense	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163144789C>G	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.951G>C	2.37:g.163144789C>G	ENSP00000263642:p.Gln317His						p.Q317H	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN			5	1173	-			317			Helicase ATP-binding.		Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	c.951G>C	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410559	0.42715	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.36340	1.26	5.92	-7.95	0.01148	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.358051	0.34245	N	0.004140	T	0.24661	0.0598	L	0.31294	0.92	0.30327	N	0.787028	P	0.45672	0.864	B	0.40741	0.339	T	0.29305	-1.0016	10	0.59425	D	0.04	-5.4943	19.5971	0.95546	0.0:0.3534:0.0:0.6466	.	317	Q9BYX4	IFIH1_HUMAN	H	317	ENSP00000263642:Q317H	ENSP00000263642:Q317H	Q	-	3	2	IFIH1	162853035	0.004000	0.15560	0.475000	0.27278	0.977000	0.68977	-1.189000	0.03061	-1.716000	0.01387	-1.111000	0.02071	CAG		0.478	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2		NM_022168		33	86	0	0	0	0.012213	0	33	86		
CHN1	1123	broad.mit.edu	37	2	175664879	175664879	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:175664879C>G	ENST00000409900.3	-	13	1658	c.1345G>C	c.(1345-1347)Gag>Cag	p.E449Q	CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409156.3_Missense_Mutation_p.E423Q|CHN1_ENST00000295497.7_Missense_Mutation_p.E324Q|CHN1_ENST00000409597.1_Missense_Mutation_p.E265Q	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	449	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			ATAAGCAGCTCCACCACCAGT	0.358			T	TAF15	extraskeletal myxoid chondrosarcoma																																	uc002uji.2		NaN		Dom	yes		2	2q31-q32.1	1123	T	chimerin (chimaerin) 1			M	TAF15		extraskeletal myxoid chondrosarcoma		0				ovary(2)|skin(1)	3						c.(1345-1347)GAG>CAG		chimerin (chimaerin) 1 isoform a							78.0	69.0	72.0					2																	175664879		1865	4107	5972	SO:0001583	missense	1123				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr2:175664879C>G		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.1345G>C	2.37:g.175664879C>G	ENSP00000386741:p.Glu449Gln					CHN1_uc010zeq.1_Missense_Mutation_p.E423Q|CHN1_uc002ujj.2_Missense_Mutation_p.E224Q|CHN1_uc002ujg.2_Missense_Mutation_p.E324Q	p.E449Q	NM_001822	NP_001813	P15882	CHIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.226)		13	1875	-			449			Rho-GAP.		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	c.1345G>C	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.555452	0.27739	.	.	ENSG00000128656	ENST00000409900;ENST00000295497;ENST00000409597;ENST00000409156	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.93	5.93	0.95920	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.12561	0.0305	N	0.26042	0.785	0.80722	D	1	B;B;B	0.28552	0.138;0.215;0.052	B;B;B	0.24155	0.031;0.031;0.051	T	0.08086	-1.0739	10	0.36615	T	0.2	.	19.3193	0.94231	0.0:1.0:0.0:0.0	.	423;449;324	B4DV19;P15882;P15882-2	.;CHIN_HUMAN;.	Q	449;324;265;423	ENSP00000386741:E449Q;ENSP00000295497:E324Q;ENSP00000386469:E265Q;ENSP00000386470:E423Q	ENSP00000295497:E324Q	E	-	1	0	CHN1	175373125	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.797000	0.96272	0.655000	0.94253	GAG		0.358	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1		NM_001822		18	25	0	0	0	0.006122	0	18	25		
TTN	7273	broad.mit.edu	37	2	179412163	179412163	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:179412163G>A	ENST00000591111.1	-	289	89491	c.89267C>T	c.(89266-89268)tCa>tTa	p.S29756L	TTN_ENST00000342992.6_Missense_Mutation_p.S28829L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S22332L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S22524L|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S22457L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S31397L			Q8WZ42	TITIN_HUMAN	titin	29756	Fibronectin type-III 116. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTGGTGCTGATTCTAGAGG	0.323																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(86485-86487)TCA>TTA		titin isoform N2-A							37.0	33.0	34.0					2																	179412163		1825	4089	5914	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412163G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89267C>T	2.37:g.179412163G>A	ENSP00000465570:p.Ser29756Leu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S22524L|TTN_uc010zfi.1_Missense_Mutation_p.S22457L|TTN_uc010zfj.1_Missense_Mutation_p.S22332L	p.S28829L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	86710	-			29756					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.86486C>T		.	.	.	.	.	.	.	.	.	.	G	16.37	3.104505	0.56291	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	6.03	6.03	0.97812	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77987	0.4213	M	0.86028	2.79	0.80722	D	1	P;P;P;D	0.56521	0.953;0.953;0.953;0.976	P;P;P;P	0.52481	0.469;0.469;0.469;0.7	T	0.80888	-0.1181	9	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	22332;22457;22524;29756	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	28829;22332;22524;22457;22329	ENSP00000343764:S28829L;ENSP00000434586:S22332L;ENSP00000340554:S22524L;ENSP00000352154:S22457L	ENSP00000340554:S22524L	S	-	2	0	TTN	179120409	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.854000	0.98071	0.655000	0.94253	TCA		0.323	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		6	23	0	0	0	0.001168	0	6	23		
TTN	7273	broad.mit.edu	37	2	179462655	179462655	+	Missense_Mutation	SNP	A	A	G	rs78509062		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:179462655A>G	ENST00000591111.1	-	243	52543	c.52319T>C	c.(52318-52320)aTt>aCt	p.I17440T	TTN_ENST00000342992.6_Missense_Mutation_p.I16513T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I10016T|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I10208T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I10141T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I19081T			Q8WZ42	TITIN_HUMAN	titin	17440	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCATTTCAATGACATCTGT	0.368													A|||	1	0.000199681	0.0	0.0	5008	,	,		21076	0.0		0.001	False		,,,				2504	0.0					uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(49537-49539)ATT>ACT		titin isoform N2-A		A	THR/ILE,THR/ILE,THR/ILE,THR/ILE	0,3802		0,0,1901	163.0	159.0	160.0		30047,49538,30422,30623	5.9	1.0	2	dbSNP_131	160	3,8249		0,3,4123	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	89,89,89,89	0,3,6024	GG,GA,AA		0.0364,0.0,0.0249	probably-damaging,probably-damaging,probably-damaging,probably-damaging	10016/26927,16513/33424,10141/27052,10208/27119	179462655	3,12051	1901	4126	6027	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179462655A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52319T>C	2.37:g.179462655A>G	ENSP00000465570:p.Ile17440Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I10208T|TTN_uc010zfi.1_Missense_Mutation_p.I10141T|TTN_uc010zfj.1_Missense_Mutation_p.I10016T	p.I16513T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		242	49762	-			17440					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.49538T>C		.	.	.	.	.	.	.	.	.	.	A	15.68	2.903816	0.52333	0.0	3.64E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.87	5.87	0.94306	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60971	0.2310	M	0.64630	1.985	0.47994	D	0.99956	P;P;P;D	0.56521	0.953;0.953;0.953;0.976	P;P;P;P	0.54815	0.631;0.631;0.631;0.761	T	0.64567	-0.6377	9	0.87932	D	0	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	10016;10141;10208;17440	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	16513;10016;10208;10141;10014	ENSP00000343764:I16513T;ENSP00000434586:I10016T;ENSP00000340554:I10208T;ENSP00000352154:I10141T	ENSP00000340554:I10208T	I	-	2	0	TTN	179170900	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.216000	0.95154	2.371000	0.80710	0.533000	0.62120	ATT		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		50	92	0	0	0	0.01441	0	50	92		
STAT1	6772	broad.mit.edu	37	2	191847160	191847160	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:191847160T>C	ENST00000361099.3	-	18	1918	c.1531A>G	c.(1531-1533)Aaa>Gaa	p.K511E	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.K511E|STAT1_ENST00000392323.2_Missense_Mutation_p.K513E|STAT1_ENST00000392322.3_Missense_Mutation_p.K511E	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	511					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			AGACCTCTTTTGGTGACAGAA	0.403																																						uc002usj.2		NaN																	0				lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10						c.(1531-1533)AAA>GAA		signal transducer and activator of transcription	Fludarabine(DB01073)						118.0	121.0	120.0					2																	191847160		2203	4300	6503	SO:0001583	missense	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191847160T>C		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1531A>G	2.37:g.191847160T>C	ENSP00000354394:p.Lys511Glu					STAT1_uc010fse.1_Missense_Mutation_p.K511E|STAT1_uc002usk.2_Missense_Mutation_p.K511E|STAT1_uc002usl.2_Missense_Mutation_p.K513E|STAT1_uc010fsf.1_Missense_Mutation_p.K323E	p.K511E	NM_007315	NP_009330	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		18	1919	-			511					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.1531A>G	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	T	17.54	3.415690	0.62511	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	5.31	5.31	0.75309	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.468088	0.25845	N	0.027938	D	0.88016	0.6324	M	0.81341	2.54	0.80722	D	1	P;B	0.37330	0.59;0.132	B;B	0.37267	0.245;0.07	D	0.88801	0.3285	10	0.52906	T	0.07	-34.6977	15.4346	0.75137	0.0:0.0:0.0:1.0	.	511;511	P42224-2;P42224	.;STAT1_HUMAN	E	511;511;511;513	ENSP00000354394:K511E;ENSP00000386244:K511E;ENSP00000376136:K511E;ENSP00000376137:K513E	ENSP00000354394:K511E	K	-	1	0	STAT1	191555405	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.284000	0.51708	2.223000	0.72356	0.533000	0.62120	AAA		0.403	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3		NM_007315		96	115	0	0	0	0.01441	0	96	115		
TYW5	129450	broad.mit.edu	37	2	200800710	200800710	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:200800710G>C	ENST00000354611.4	-	7	900	c.635C>G	c.(634-636)tCc>tGc	p.S212C	C2orf69_ENST00000491721.1_Intron|TYW5_ENST00000452512.2_5'UTR	NM_001039693.2	NP_001034782.1	A2RUC4	TYW5_HUMAN	tRNA-yW synthesizing protein 5	212	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				wybutosine biosynthetic process (GO:0031591)		iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1)	8						TCTAGCCTTGGAAAAAAGTGG	0.333																																						uc002uvi.3		NaN																	0					0						c.(634-636)TCC>TGC		hypothetical protein LOC129450							133.0	127.0	129.0					2																	200800710		1822	4071	5893	SO:0001583	missense	129450				wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding	g.chr2:200800710G>C	AK095272	CCDS42795.1	2q33.1	2011-05-09	2011-05-09	2011-05-09	ENSG00000162971	ENSG00000162971			26754	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 60"""	C2orf60		20739293	Standard	NM_001039693		Approved	FLJ37953	uc002uvi.4	A2RUC4	OTTHUMG00000132770	ENST00000354611.4:c.635C>G	2.37:g.200800710G>C	ENSP00000346627:p.Ser212Cys					C2orf60_uc002uvj.3_Missense_Mutation_p.S49C|C2orf60_uc002uvk.3_RNA|C2orf60_uc010fss.2_Missense_Mutation_p.S49C	p.S212C	NM_001039693	NP_001034782	A2RUC4	TYW5_HUMAN			7	901	-			212			JmjC.		B2RNE3|Q8N1R2	Missense_Mutation	SNP	ENST00000354611.4	37	c.635C>G	CCDS42795.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642703	0.47153	.	.	ENSG00000162971	ENST00000354611	T	0.23552	1.9	5.57	3.43	0.39272	Cupin, JmjC-type (1);Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.856063	0.10410	N	0.677971	T	0.33702	0.0872	L	0.61218	1.895	0.28739	N	0.902055	P	0.37525	0.598	B	0.42522	0.39	T	0.21965	-1.0230	10	0.51188	T	0.08	-2.594	11.6816	0.51461	0.2427:0.0:0.7573:0.0	.	212	A2RUC4	TYW5_HUMAN	C	212	ENSP00000346627:S212C	ENSP00000346627:S212C	S	-	2	0	TYW5	200508955	0.288000	0.24324	1.000000	0.80357	0.977000	0.68977	1.080000	0.30779	1.336000	0.45506	0.585000	0.79938	TCC		0.333	TYW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256144.3		NM_001039693		43	163	0	0	0	0.007835	0	43	163		
MYL1	4632	broad.mit.edu	37	2	211158490	211158490	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:211158490C>T	ENST00000352451.3	-	5	660	c.513G>A	c.(511-513)ctG>ctA	p.L171L	MYL1_ENST00000341685.4_Silent_p.L127L|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	171	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GACCTGCCATCAGGGCTTCCA	0.423																																						uc002vec.2		NaN																	0				ovary(1)	1						c.(511-513)CTG>CTA		fast skeletal myosin alkali light chain 1							231.0	211.0	218.0					2																	211158490		2203	4300	6503	SO:0001819	synonymous_variant	4632				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle	g.chr2:211158490C>T		CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"""Myosins / Light chain"", ""EF-hand domain containing"""	7582	protein-coding gene	gene with protein product		160780	"""myosin, light polypeptide 1, alkali; skeletal, fast"""			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.513G>A	2.37:g.211158490C>T						MYL1_uc002veb.2_Silent_p.L127L	p.L171L	NM_079420	NP_524144	P05976	MYL1_HUMAN		Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)	5	642	-			171			EF-hand 3.		B2R4N6|B2R4T6|P06741|Q6IBD5	Silent	SNP	ENST00000352451.3	37	c.513G>A	CCDS2390.1																																																																																				0.423	MYL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256566.2		NM_079420		56	243	0	0	0	0.01441	0	56	243		
CPS1	1373	broad.mit.edu	37	2	211525295	211525295	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:211525295G>A	ENST00000233072.5	+	32	4039	c.3843G>A	c.(3841-3843)aaG>aaA	p.K1281K	CPS1_ENST00000451903.2_Silent_p.K830K|CPS1_ENST00000430249.2_Silent_p.K1287K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1281	ATP-grasp 2.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TGGCCACCAAGGTGATGATTG	0.403																																						uc002vee.3		NaN																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(3841-3843)AAG>AAA		carbamoyl-phosphate synthetase 1 isoform b							224.0	201.0	209.0					2																	211525295		2203	4300	6503	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211525295G>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3843G>A	2.37:g.211525295G>A						CPS1_uc010fur.2_Silent_p.K1287K|CPS1_uc010fus.2_Silent_p.K830K	p.K1281K	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	32	3975	+			1281			ATP-grasp 2.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.3843G>A	CCDS2393.1																																																																																				0.403	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5				87	221	0	0	0	0.01441	0	87	221		
ERBB4	2066	broad.mit.edu	37	2	212522499	212522499	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:212522499G>A	ENST00000342788.4	-	16	2236	c.1926C>T	c.(1924-1926)tcC>tcT	p.S642S	ERBB4_ENST00000402597.1_Intron|ERBB4_ENST00000436443.1_Silent_p.S642S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	642					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GTGGTAAAGTGGAATGGCCCG	0.428										TSP Lung(8;0.080)																												uc002veg.1		NaN																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(1924-1926)TCC>TCT		v-erb-a erythroblastic leukemia viral oncogene							259.0	205.0	223.0					2																	212522499		2203	4300	6503	SO:0001819	synonymous_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212522499G>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1926C>T	2.37:g.212522499G>A		TSP Lung(8;0.080)				ERBB4_uc002veh.1_Silent_p.S642S|ERBB4_uc010zji.1_Intron|ERBB4_uc010zjj.1_Intron|ERBB4_uc010fut.1_Silent_p.S642S	p.S642S	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	16	2024	-		Renal(323;0.06)|Lung NSC(271;0.197)	642			Extracellular (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.1926C>T	CCDS2394.1																																																																																				0.428	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1		NM_001042599		45	57	0	0	0	0.01441	0	45	57		
ARMC9	80210	broad.mit.edu	37	2	232156134	232156134	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:232156134C>T	ENST00000349938.4	+	18	1889	c.1695C>T	c.(1693-1695)ttC>ttT	p.F565F	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	565						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		AGATAGAATTCATCATCAAGC	0.378																																						uc002vrq.3		NaN																	0				ovary(1)	1						c.(1693-1695)TTC>TTT		armadillo repeat containing 9							131.0	123.0	125.0					2																	232156134		2203	4300	6503	SO:0001819	synonymous_variant	80210						binding	g.chr2:232156134C>T	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1695C>T	2.37:g.232156134C>T						ARMC9_uc002vrp.3_Silent_p.F565F|ARMC9_uc002vrr.1_RNA	p.F565F	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	18	1807	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	565					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Silent	SNP	ENST00000349938.4	37	c.1695C>T	CCDS2484.1																																																																																				0.378	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3		NM_025139		46	88	0	0	0	0.01441	0	46	88		
DIS3L2	129563	broad.mit.edu	37	2	232995343	232995343	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:232995343G>A	ENST00000409307.1	+	6	616	c.616G>A	c.(616-618)Gat>Aat	p.D206N	DIS3L2_ENST00000273009.6_Missense_Mutation_p.D206N|DIS3L2_ENST00000360410.4_Silent_p.V225V|DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000409401.3_Missense_Mutation_p.D206N|DIS3L2_ENST00000325385.7_Missense_Mutation_p.D206N					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AGAGGATGGTGATGCACCGGT	0.393																																						uc010fxz.2		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(616-618)GAT>AAT		DIS3 mitotic control homolog (S.							100.0	95.0	96.0					2																	232995343		1881	4111	5992	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:232995343G>A	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.616G>A	2.37:g.232995343G>A	ENSP00000386799:p.Asp206Asn					DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vsn.1_Missense_Mutation_p.D206N|DIS3L2_uc002vso.2_RNA	p.D206N	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	7	892	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	206						Missense_Mutation	SNP	ENST00000409307.1	37	c.616G>A	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	G	5.595	0.294628	0.10567	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000409401;ENST00000431466;ENST00000409307	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.07	2.88	0.33553	.	0.885835	0.09934	N	0.736829	T	0.15869	0.0382	N	0.00926	-1.1	0.09310	N	0.999997	B;B	0.10296	0.002;0.003	B;B	0.09377	0.004;0.003	T	0.17289	-1.0374	10	0.32370	T	0.25	-0.7013	8.2112	0.31483	0.2396:0.0:0.7604:0.0	.	206;206	Q8IYB7;Q8IYB7-4	DI3L2_HUMAN;.	N	206	ENSP00000273009:D206N;ENSP00000315569:D206N;ENSP00000386594:D206N;ENSP00000386799:D206N	ENSP00000273009:D206N	D	+	1	0	DIS3L2	232703587	0.008000	0.16893	0.208000	0.23602	0.411000	0.31082	1.582000	0.36568	1.074000	0.40909	0.555000	0.69702	GAT		0.393	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1		NM_152383		20	32	0	0	0	0.010504	0	20	32		
DEFB125	245938	broad.mit.edu	37	20	76884	76884	+	Silent	SNP	G	G	C	rs369692500		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr20:76884G>C	ENST00000382410.2	+	2	297	c.297G>C	c.(295-297)ctG>ctC	p.L99L	DEFB125_ENST00000608838.1_3'UTR	NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	99					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			TGAATGATCTGATAACATTTG	0.423																																						uc002wcw.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(295-297)CTG>CTC		defensin, beta 125 preproprotein							181.0	165.0	170.0					20																	76884		2203	4300	6503	SO:0001819	synonymous_variant	245938				defense response to bacterium	extracellular region		g.chr20:76884G>C	AA935636	CCDS12989.2	20p13	2008-07-17			ENSG00000178591	ENSG00000178591		"""Defensins, beta"""	18105	protein-coding gene	gene with protein product	"""beta defensin 25"""					11854508	Standard	NM_153325		Approved	DEFB-25	uc002wcw.3	Q8N687	OTTHUMG00000031614	ENST00000382410.2:c.297G>C	20.37:g.76884G>C							p.L99L	NM_153325	NP_697020	Q8N687	DB125_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.156)		2	297	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	99					A1A502|Q7Z7B9	Silent	SNP	ENST00000382410.2	37	c.297G>C	CCDS12989.2																																																																																				0.423	DEFB125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077426.2		NM_153325		173	127	0	0	0	0.01441	0	173	127		
MCM8	84515	broad.mit.edu	37	20	5935320	5935320	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr20:5935320T>G	ENST00000378896.3	+	4	697	c.320T>G	c.(319-321)aTt>aGt	p.I107S	MCM8_ENST00000378883.1_Missense_Mutation_p.I107S|MCM8_ENST00000378886.2_Missense_Mutation_p.I107S|MCM8_ENST00000265187.4_Missense_Mutation_p.I107S	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	107					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						ACAAGGCATATTGATTTGTAT	0.363																																						uc002wmi.2		NaN																	0				skin(1)	1						c.(319-321)ATT>AGT		minichromosome maintenance complex component 8							91.0	88.0	89.0					20																	5935320		2201	4300	6501	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5935320T>G	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.320T>G	20.37:g.5935320T>G	ENSP00000368174:p.Ile107Ser					MCM8_uc002wmj.2_Missense_Mutation_p.I107S|MCM8_uc002wmk.2_Missense_Mutation_p.I107S|MCM8_uc002wml.2_Missense_Mutation_p.I107S|MCM8_uc010gbp.2_Missense_Mutation_p.I107S	p.I107S	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN			4	697	+			107					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.320T>G	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.466563	0.43839	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000399350;ENST00000378886;ENST00000265187	T;T;T;T	0.12039	2.72;2.72;2.72;2.72	5.37	5.37	0.77165	Nucleic acid-binding, OB-fold-like (1);	0.080401	0.64402	D	0.000002	T	0.18002	0.0432	M	0.70595	2.14	0.58432	D	0.999999	B;B;B;B	0.22746	0.074;0.073;0.059;0.019	B;B;B;B	0.22386	0.039;0.029;0.039;0.017	T	0.05733	-1.0867	10	0.13853	T	0.58	-21.5339	15.6746	0.77307	0.0:0.0:0.0:1.0	.	107;107;107;107	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	S	107	ENSP00000368174:I107S;ENSP00000368161:I107S;ENSP00000368164:I107S;ENSP00000265187:I107S	ENSP00000265187:I107S	I	+	2	0	MCM8	5883320	1.000000	0.71417	0.955000	0.39395	0.896000	0.52359	6.112000	0.71547	2.164000	0.68074	0.533000	0.62120	ATT		0.363	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1		NM_032485		16	58	0	0	0	0.00499	0	16	58		
PCSK2	5126	broad.mit.edu	37	20	17446013	17446013	+	Silent	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr20:17446013C>G	ENST00000262545.2	+	11	1560	c.1245C>G	c.(1243-1245)ctC>ctG	p.L415L	PCSK2_ENST00000536609.1_Silent_p.L380L|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Silent_p.L396L	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	415	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGACTGTGCTCACCTCCAAAC	0.582																																						uc002wpm.2		NaN																	0				ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7						c.(1243-1245)CTC>CTG		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						99.0	71.0	81.0					20																	17446013		2203	4300	6503	SO:0001819	synonymous_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17446013C>G	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1245C>G	20.37:g.17446013C>G						PCSK2_uc002wpl.2_Silent_p.L396L|PCSK2_uc010zrm.1_Silent_p.L380L|PCSK2_uc002wpn.2_Silent_p.L69L	p.L415L	NM_002594	NP_002585	P16519	NEC2_HUMAN			11	1565	+			415			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	c.1245C>G	CCDS13125.1																																																																																				0.582	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2		NM_002594		3	24	0	0	0	0.014758	0	3	24		
SSTR4	6754	broad.mit.edu	37	20	23017255	23017255	+	Missense_Mutation	SNP	C	C	T	rs563306096		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr20:23017255C>T	ENST00000255008.3	+	1	1199	c.1135C>T	c.(1135-1137)Cgc>Tgc	p.R379C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	379					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGGCCGCAAGCGCATCCCCCT	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		17696	0.0		0.001	False		,,,				2504	0.0				Esophageal Squamous(15;850 1104 16640)	uc002wsr.2		NaN																	0				ovary(1)	1						c.(1135-1137)CGC>TGC		somatostatin receptor 4							37.0	44.0	41.0					20																	23017255		2083	4190	6273	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23017255C>T		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.1135C>T	20.37:g.23017255C>T	ENSP00000255008:p.Arg379Cys						p.R379C	NM_001052	NP_001043	P31391	SSR4_HUMAN			1	1199	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		379			Cytoplasmic (Potential).		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.1135C>T	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	2.001	-0.429408	0.04701	.	.	ENSG00000132671	ENST00000255008	T	0.66815	-0.23	3.92	1.93	0.25924	.	1.786390	0.03942	N	0.287117	T	0.48519	0.1504	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40608	-0.9554	10	0.52906	T	0.07	.	7.6879	0.28550	0.0:0.7393:0.1656:0.095	.	379	P31391	SSR4_HUMAN	C	379	ENSP00000255008:R379C	ENSP00000255008:R379C	R	+	1	0	SSTR4	22965255	0.320000	0.24616	0.007000	0.13788	0.005000	0.04900	2.544000	0.45761	0.309000	0.22966	-0.882000	0.02950	CGC		0.657	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1				17	60	0	0	0	0.008871	0	17	60		
RBM39	9584	broad.mit.edu	37	20	34295071	34295071	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr20:34295071G>C	ENST00000253363.6	-	14	1301	c.1278C>G	c.(1276-1278)ttC>ttG	p.F426L	RBM39_ENST00000361162.6_Missense_Mutation_p.F420L|RBM39_ENST00000407261.4_Missense_Mutation_p.F269L|RBM39_ENST00000528062.3_Missense_Mutation_p.F404L			Q14498	RBM39_HUMAN	RNA binding motif protein 39	426	Interaction with NCOA6. {ECO:0000250}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TAGAGAGTTGGAAACATTGTG	0.343																																						uc002xeb.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1276-1278)TTC>TTG		RNA binding motif protein 39 isoform a							71.0	72.0	72.0					20																	34295071		2203	4300	6503	SO:0001583	missense	9584				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr20:34295071G>C	L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.1278C>G	20.37:g.34295071G>C	ENSP00000253363:p.Phe426Leu					RBM39_uc002xdz.2_Missense_Mutation_p.F402L|RBM39_uc002xea.2_Missense_Mutation_p.F269L|RBM39_uc010gfn.2_Missense_Mutation_p.F269L|RBM39_uc010zvm.1_Missense_Mutation_p.F398L|RBM39_uc002xeg.2_Missense_Mutation_p.F404L|RBM39_uc002xec.2_Missense_Mutation_p.F420L|RBM39_uc002xed.2_Missense_Mutation_p.F144L|RBM39_uc002xee.2_Missense_Mutation_p.F269L|RBM39_uc002xef.2_Missense_Mutation_p.F263L|RBM39_uc010zvn.1_Missense_Mutation_p.F269L	p.F426L	NM_184234	NP_909122	Q14498	RBM39_HUMAN			14	1622	-	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)		426			Interaction with NCOA6 (By similarity).		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	c.1278C>G	CCDS13266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.805|9.805	1.181538|1.181538	0.21787|0.21787	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261|ENST00000448303	T;T;T;T|.	0.47528|.	0.84;0.84;0.84;0.84|.	4.65|4.65	-0.361|-0.361	0.12564|0.12564	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);|.	0.051387|.	0.85682|.	D|.	0.000000|.	T|T	0.38799|0.38799	0.1054|0.1054	N|N	0.20401|0.20401	0.57|0.57	0.80722|0.80722	D|D	1|1	P;P;B;B;B|.	0.34997|.	0.479;0.479;0.022;0.243;0.014|.	B;B;B;B;B|.	0.27796|.	0.066;0.083;0.047;0.049;0.012|.	T|T	0.07927|0.07927	-1.0747|-1.0747	10|5	0.05620|.	T|.	0.96|.	.|.	10.5329|10.5329	0.44988|0.44988	0.2944:0.0:0.7056:0.0|0.2944:0.0:0.7056:0.0	.|.	398;404;420;426;402|.	B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7|.	.;.;.;RBM39_HUMAN;.|.	L|A	426;420;404;269|277	ENSP00000253363:F426L;ENSP00000354437:F420L;ENSP00000436747:F404L;ENSP00000384541:F269L|.	ENSP00000253363:F426L|.	F|P	-|-	3|1	2|0	RBM39|RBM39	33758485|33758485	0.993000|0.993000	0.37304|0.37304	0.994000|0.994000	0.49952|0.49952	0.288000|0.288000	0.27193|0.27193	0.199000|0.199000	0.17237|0.17237	-0.217000|-0.217000	0.10033|0.10033	-1.287000|-1.287000	0.01368|0.01368	TTC|CCA		0.343	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2		NM_184237		14	67	0	0	0	0.00499	0	14	67		
FAM210B	116151	broad.mit.edu	37	20	54945601	54945601	+	IGR	SNP	T	T	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr20:54945601T>G	ENST00000371384.3	+	0	3046				AURKA_ENST00000371356.2_Missense_Mutation_p.L323F|AURKA_ENST00000395911.1_Missense_Mutation_p.L323F|AURKA_ENST00000395907.1_Missense_Mutation_p.L323F|AURKA_ENST00000395913.3_Missense_Mutation_p.L323F|AURKA_ENST00000312783.6_Missense_Mutation_p.L323F|AURKA_ENST00000395909.4_Missense_Mutation_p.L323F|AURKA_ENST00000347343.2_Missense_Mutation_p.L323F|AURKA_ENST00000395914.1_Missense_Mutation_p.L323F|AURKA_ENST00000395915.3_Missense_Mutation_p.L323F	NM_080821.2	NP_543011.2	Q96KR6	F210B_HUMAN	family with sequence similarity 210, member B							integral component of membrane (GO:0016021)											GCTTCCCAACTAAAAATTCAT	0.478																																						uc002xxd.1		NaN																	0				lung(3)|ovary(2)|breast(1)|large_intestine(1)|skin(1)	8						c.(967-969)TTA>TTC		serine/threonine protein kinase 6							99.0	99.0	99.0					20																	54945601		2203	4300	6503	SO:0001628	intergenic_variant	6790				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity	g.chr20:54945601T>G	AL121914	CCDS13450.1	20q13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000124098	ENSG00000124098			16102	protein-coding gene	gene with protein product	"""hypothetical protein LOC116151"""		"""chromosome 20 open reading frame 108"""	C20orf108		11780052	Standard	NM_080821		Approved	dJ1167H4.1, DKFZP434A1114	uc002xxc.3	Q96KR6	OTTHUMG00000032793		20.37:g.54945601T>G						AURKA_uc002xxe.1_Missense_Mutation_p.L323F|AURKA_uc002xxf.1_Missense_Mutation_p.L323F|AURKA_uc002xxg.1_Missense_Mutation_p.L323F|AURKA_uc002xxh.1_Missense_Mutation_p.L323F|AURKA_uc002xxi.1_Missense_Mutation_p.L323F|AURKA_uc002xxj.1_Missense_Mutation_p.L323F|AURKA_uc002xxk.1_Missense_Mutation_p.L323F|AURKA_uc010zzd.1_RNA	p.L323F	NM_198433	NP_940835	O14965	AURKA_HUMAN	Colorectal(105;0.202)		10	1535	-			323			Protein kinase.		B2RBQ9|E1P5Y7|Q8WVN2|Q9BYL6|Q9H418	Missense_Mutation	SNP	ENST00000371384.3	37	c.969A>C	CCDS13450.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.499415	0.64298	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911;ENST00000395907	T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.01	-1.44	0.08856	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000116	T	0.75354	0.3838	M	0.83384	2.64	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.994;0.991;0.996;0.996	T	0.70121	-0.4959	10	0.87932	D	0	-13.2956	2.0267	0.03520	0.2143:0.3699:0.1112:0.3046	.	255;323;323;323	B4DX16;A3KFJ0;B2R6Z3;O14965	.;.;.;AURKA_HUMAN	F	323	ENSP00000379245:L323F;ENSP00000379250:L323F;ENSP00000216911:L323F;ENSP00000379251:L323F;ENSP00000321591:L323F;ENSP00000360407:L323F;ENSP00000379249:L323F;ENSP00000379247:L323F;ENSP00000379243:L323F	ENSP00000321591:L323F	L	-	3	2	AURKA	54379008	0.002000	0.14202	0.231000	0.23993	0.996000	0.88848	-1.411000	0.02478	-0.497000	0.06641	0.528000	0.53228	TTA		0.478	FAM210B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079800.2		NM_080821		30	88	0	0	0	0.013726	0	30	88		
ZGPAT	84619	broad.mit.edu	37	20	62340259	62340259	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr20:62340259G>A	ENST00000328969.5	+	2	454	c.327G>A	c.(325-327)gcG>gcA	p.A109A	ARFRP1_ENST00000324228.2_5'Flank|RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.R15Q|ARFRP1_ENST00000609142.1_5'Flank|ARFRP1_ENST00000359715.5_5'Flank|ARFRP1_ENST00000440854.1_5'Flank|ARFRP1_ENST00000607873.1_5'Flank|ZGPAT_ENST00000357119.4_Silent_p.A109A|ZGPAT_ENST00000355969.6_Silent_p.A109A|ZGPAT_ENST00000448100.2_Silent_p.A109A|ZGPAT_ENST00000369967.3_Silent_p.A109A	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	109					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					AAGCAGAGGCGGGGCCAGAAT	0.642																																						uc002ygk.2		NaN																	0					0						c.(325-327)GCG>GCA		zinc finger, CCCH-type with G patch domain							33.0	38.0	36.0					20																	62340259		2199	4294	6493	SO:0001819	synonymous_variant	84619				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62340259G>A	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.327G>A	20.37:g.62340259G>A						ARFRP1_uc002yga.2_5'Flank|ARFRP1_uc002ygc.2_5'Flank|ARFRP1_uc002ygh.3_5'Flank|ARFRP1_uc011abf.1_5'Flank|ARFRP1_uc011abg.1_5'Flank|ARFRP1_uc002yge.2_5'Flank|ARFRP1_uc002ygd.2_5'Flank|ARFRP1_uc002ygf.2_5'Flank|ARFRP1_uc002ygg.2_5'Flank|ARFRP1_uc011abh.1_5'Flank|ZGPAT_uc002ygi.2_Silent_p.A109A|ZGPAT_uc002ygj.2_Silent_p.A109A|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Silent_p.A109A|ZGPAT_uc002ygm.2_Silent_p.A109A|ZGPAT_uc002ygn.3_RNA	p.A109A	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN			2	505	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		109					E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Silent	SNP	ENST00000328969.5	37	c.327G>A	CCDS13534.1																																																																																				0.642	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1		NM_181484		19	37	0	0	0	0.014323	0	19	37		
NCAM2	4685	broad.mit.edu	37	21	22656638	22656638	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:22656638A>G	ENST00000400546.1	+	3	504	c.255A>G	c.(253-255)atA>atG	p.I85M	NCAM2_ENST00000535285.1_Missense_Mutation_p.I110M|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	85	Ig-like C2-type 1.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATGCAAATATAGAAGATGCAG	0.368																																						uc002yld.1		NaN																	0				ovary(4)	4						c.(253-255)ATA>ATG		neural cell adhesion molecule 2 precursor							101.0	95.0	96.0					21																	22656638		1877	4114	5991	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22656638A>G		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.255A>G	21.37:g.22656638A>G	ENSP00000383392:p.Ile85Met					NCAM2_uc011acb.1_Intron|NCAM2_uc011acc.1_Missense_Mutation_p.I110M	p.I85M	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	3	504	+		Lung NSC(9;0.195)	85			Ig-like C2-type 1.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.255A>G	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.772854	0.69992	.	.	ENSG00000154654	ENST00000400546;ENST00000535285	T;T	0.27557	1.66;1.66	5.58	4.42	0.53409	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.127514	0.64402	D	0.000001	T	0.38612	0.1047	N	0.21194	0.64	0.58432	D	0.999993	P;P	0.39326	0.668;0.668	P;P	0.60886	0.88;0.88	T	0.29882	-0.9997	10	0.72032	D	0.01	-17.3162	9.2216	0.37379	0.7109:0.0:0.0:0.2891	.	110;85	B7Z841;O15394	.;NCAM2_HUMAN	M	85;110	ENSP00000383392:I85M;ENSP00000441887:I110M	ENSP00000383392:I85M	I	+	3	3	NCAM2	21578509	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.771000	0.38542	0.932000	0.37266	0.482000	0.46254	ATA		0.368	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1		NM_004540		49	87	0	0	0	0.01441	0	49	87		
KRTAP6-3	337968	broad.mit.edu	37	21	31964950	31964950	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:31964950C>T	ENST00000391624.1	+	1	192	c.165C>T	c.(163-165)ggC>ggT	p.G55G	KRTAP22-2_ENST00000382830.2_5'Flank	NM_181605.3	NP_853636.3	Q3LI67	KRA63_HUMAN	keratin associated protein 6-3	55						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						gaggcctgggctgtggctatg	0.617																																						uc002yom.2		NaN																	0					0						c.(184-186)GGC>GGT		keratin associated protein 6-3							65.0	76.0	73.0					21																	31964950		2203	4300	6503	SO:0001819	synonymous_variant	337968							g.chr21:31964950C>T	AP001708		21q22.1	2012-04-19			ENSG00000212938	ENSG00000212938		"""Keratin associated proteins"""	18933	protein-coding gene	gene with protein product						12359730	Standard	NM_181605		Approved	KAP6.3	uc002yom.3	Q3LI67	OTTHUMG00000057791	ENST00000391624.1:c.165C>T	21.37:g.31964950C>T							p.G62G	NM_181605	NP_853636					1	192	+								A4IF26	Silent	SNP	ENST00000391624.1	37	c.186C>T																																																																																					0.617	KRTAP6-3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128243.2		NM_181605		14	27	0	0	0	0.00499	0	14	27		
SCAF4	57466	broad.mit.edu	37	21	33076179	33076179	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:33076179G>A	ENST00000286835.7	-	4	602	c.220C>T	c.(220-222)Cgt>Tgt	p.R74C	SCAF4_ENST00000399804.1_Missense_Mutation_p.R74C|SCAF4_ENST00000434667.3_Missense_Mutation_p.R59C	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	74	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AACTGATGACGAGACTGTCGC	0.353																																						uc002ypd.2		NaN																	0					0						c.(220-222)CGT>TGT		splicing factor, arginine/serine-rich 15 isoform							94.0	90.0	91.0					21																	33076179		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33076179G>A	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.220C>T	21.37:g.33076179G>A	ENSP00000286835:p.Arg74Cys					SFRS15_uc002ype.2_Missense_Mutation_p.R74C|SFRS15_uc010glu.2_Missense_Mutation_p.R59C|SFRS15_uc002ypf.1_5'Flank|SFRS15_uc002ypg.2_Missense_Mutation_p.R74C	p.R74C	NM_020706	NP_065757	O95104	SFR15_HUMAN			4	646	-			74			CID.		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.220C>T	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929493	0.73327	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.61158	0.13;0.47;0.52	5.83	5.83	0.93111	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);Domain of unknown function DUF618 (1);	0.000000	0.85682	D	0.000000	T	0.80297	0.4597	M	0.85630	2.765	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.986;0.987;0.992	T	0.82242	-0.0554	10	0.87932	D	0	-14.4465	20.1338	0.98010	0.0:0.0:1.0:0.0	.	59;74;74;74	C9JLZ0;Q0P607;O95104-2;O95104	.;.;.;SFR15_HUMAN	C	59;74;74	ENSP00000402377:R59C;ENSP00000286835:R74C;ENSP00000382703:R74C	ENSP00000286835:R74C	R	-	1	0	SCAF4	31998050	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.214000	0.72200	2.770000	0.95276	0.655000	0.94253	CGT		0.353	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1		XM_047889		63	144	0	0	0	0.01441	0	63	144		
BRWD1	54014	broad.mit.edu	37	21	40636481	40636481	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:40636481C>A	ENST00000333229.2	-	17	2117	c.1790G>T	c.(1789-1791)gGa>gTa	p.G597V	BRWD1_ENST00000342449.3_Missense_Mutation_p.G597V|BRWD1_ENST00000380800.3_Missense_Mutation_p.G597V	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	597					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATGAGGATTTCCATCTACATC	0.413																																					Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.1		NaN																	0				skin(3)|ovary(1)	4						c.(1789-1791)GGA>GTA		bromodomain and WD repeat domain containing 1							99.0	92.0	95.0					21																	40636481		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40636481C>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.1790G>T	21.37:g.40636481C>A	ENSP00000330753:p.Gly597Val					BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.G597V|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_Missense_Mutation_p.G50V|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.G317V	p.G597V	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			17	1929	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	597					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.1790G>T	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.678870|4.678870	0.88542|0.88542	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800|ENST00000455867	T;T;T|.	0.61040|.	0.14;0.18;0.26|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.000000|.	0.64402|.	D|.	0.000003|.	D|D	0.85314|0.85314	0.5668|0.5668	M|M	0.90198|0.90198	3.095|3.095	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.999;1.0;1.0;0.999|.	D|D	0.87864|0.87864	0.2666|0.2666	10|5	0.87932|.	D|.	0|.	-13.1571|-13.1571	19.0659|19.0659	0.93110|0.93110	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	308;308;597;597|.	Q5R2U6;Q5R2U8;Q9NSI6-2;Q9NSI6|.	.;.;.;BRWD1_HUMAN|.	V|C	597|308	ENSP00000330753:G597V;ENSP00000344333:G597V;ENSP00000370178:G597V|.	ENSP00000330753:G597V|.	G|W	-|-	2|3	0|0	BRWD1|BRWD1	39558351|39558351	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.395000|7.395000	0.79876|0.79876	2.522000|2.522000	0.85027|0.85027	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.413	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3		NM_033656		11	170	1	0	7.41877e-09	0.012319	7.70229e-09	11	170		
BRWD1	54014	broad.mit.edu	37	21	40636563	40636563	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:40636563C>T	ENST00000333229.2	-	17	2035	c.1708G>A	c.(1708-1710)Gat>Aat	p.D570N	BRWD1_ENST00000342449.3_Missense_Mutation_p.D570N|BRWD1_ENST00000380800.3_Missense_Mutation_p.D570N	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	570					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTATTAGAATCTCTAATAAGT	0.373																																					Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.1		NaN																	0				skin(3)|ovary(1)	4						c.(1708-1710)GAT>AAT		bromodomain and WD repeat domain containing 1							54.0	55.0	55.0					21																	40636563		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40636563C>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.1708G>A	21.37:g.40636563C>T	ENSP00000330753:p.Asp570Asn					BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.D570N|BRWD1_uc010goe.1_Intron|BRWD1_uc010gof.1_Missense_Mutation_p.D23N|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.D290N	p.D570N	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			17	1847	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	570					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.1708G>A	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.207984|5.207984	0.95033|0.95033	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800|ENST00000455867	T;T;T|T	0.47177|0.41400	0.85;0.85;0.85|1.0	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.70894|0.70894	0.3276|0.3276	M|M	0.88105|0.88105	2.93|2.93	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.997;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.989;1.0;0.999;0.999|.	T|T	0.77281|0.77281	-0.2646|-0.2646	10|7	0.87932|0.87932	D|D	0|0	-12.4462|-12.4462	19.0855|19.0855	0.93201|0.93201	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	281;281;570;570|.	Q5R2U6;Q5R2U8;Q9NSI6-2;Q9NSI6|.	.;.;.;BRWD1_HUMAN|.	N|K	570|281	ENSP00000330753:D570N;ENSP00000344333:D570N;ENSP00000370178:D570N|ENSP00000389882:R281K	ENSP00000330753:D570N|ENSP00000398900:R281K	D|R	-|-	1|2	0|0	BRWD1|BRWD1	39558433|39558433	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.395000|7.395000	0.79876|0.79876	2.526000|2.526000	0.85167|0.85167	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.373	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3		NM_033656		8	83	0	0	0	0.010729	0	8	83		
BRWD1	54014	broad.mit.edu	37	21	40636565	40636565	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:40636565C>T	ENST00000333229.2	-	17	2033	c.1706G>A	c.(1705-1707)aGa>aAa	p.R569K	BRWD1_ENST00000342449.3_Missense_Mutation_p.R569K|BRWD1_ENST00000380800.3_Missense_Mutation_p.R569K	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	569					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATTAGAATCTCTAATAAGTGG	0.378																																					Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.1		NaN																	0				skin(3)|ovary(1)	4						c.(1705-1707)AGA>AAA		bromodomain and WD repeat domain containing 1							52.0	54.0	53.0					21																	40636565		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40636565C>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.1706G>A	21.37:g.40636565C>T	ENSP00000330753:p.Arg569Lys					BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.R569K|BRWD1_uc010goe.1_Intron|BRWD1_uc010gof.1_Missense_Mutation_p.R22K|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.R289K	p.R569K	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			17	1845	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	569					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.1706G>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986020	0.93044	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.41400	1.0;1.0;1.0	5.36	5.36	0.76844	.	0.151604	0.40469	N	0.001091	T	0.70029	0.3177	M	0.90542	3.125	0.80722	D	1	D;D;D;D	0.71674	0.982;0.998;0.998;0.996	D;D;D;P	0.85130	0.952;0.92;0.997;0.824	T	0.76072	-0.3093	10	0.66056	D	0.02	-11.8341	13.9856	0.64334	0.1514:0.8486:0.0:0.0	.	280;280;569;569	Q5R2U6;Q5R2U8;Q9NSI6-2;Q9NSI6	.;.;.;BRWD1_HUMAN	K	569	ENSP00000330753:R569K;ENSP00000344333:R569K;ENSP00000370178:R569K	ENSP00000330753:R569K	R	-	2	0	BRWD1	39558435	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.534000	0.67167	2.526000	0.85167	0.655000	0.94253	AGA		0.378	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3		NM_033656		8	83	0	0	0	0.008291	0	8	83		
BRWD1	54014	broad.mit.edu	37	21	40636822	40636822	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:40636822C>T	ENST00000333229.2	-	16	1981	c.1654G>A	c.(1654-1656)Gaa>Aaa	p.E552K	BRWD1_ENST00000342449.3_Missense_Mutation_p.E552K|BRWD1_ENST00000380800.3_Missense_Mutation_p.E552K	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	552					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATGACCTTTTCATATGGTTTG	0.358																																					Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.1		NaN																	0				skin(3)|ovary(1)	4						c.(1654-1656)GAA>AAA		bromodomain and WD repeat domain containing 1							74.0	75.0	75.0					21																	40636822		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40636822C>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.1654G>A	21.37:g.40636822C>T	ENSP00000330753:p.Glu552Lys					BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.E552K|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_Intron|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.E272K	p.E552K	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			16	1793	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	552			WD 8.		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.1654G>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802823	0.50315	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.39229	1.09;1.09;1.09	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000001	T	0.57066	0.2028	L	0.39898	1.24	0.80722	D	1	D;D;D	0.76494	0.997;0.994;0.999	D;D;P	0.73380	0.98;0.96;0.907	T	0.52208	-0.8606	10	0.38643	T	0.18	-13.9563	19.3172	0.94220	0.0:1.0:0.0:0.0	.	263;552;552	Q5R2U6;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	K	552	ENSP00000330753:E552K;ENSP00000344333:E552K;ENSP00000370178:E552K	ENSP00000330753:E552K	E	-	1	0	BRWD1	39558692	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.354000	0.79424	2.643000	0.89663	0.655000	0.94253	GAA		0.358	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3		NM_033656		10	118	0	0	0	0.010729	0	10	118		
BRWD1	54014	broad.mit.edu	37	21	40636873	40636873	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:40636873C>G	ENST00000333229.2	-	16	1930	c.1603G>C	c.(1603-1605)Gat>Cat	p.D535H	BRWD1_ENST00000342449.3_Missense_Mutation_p.D535H|BRWD1_ENST00000380800.3_Missense_Mutation_p.D535H	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	535					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCATGAGAATCTGTACAGGCA	0.373											OREG0003860	type=REGULATORY REGION|Gene=AK125906|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.1		NaN																	0				skin(3)|ovary(1)	4						c.(1603-1605)GAT>CAT		bromodomain and WD repeat domain containing 1							92.0	90.0	91.0					21																	40636873		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40636873C>G	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.1603G>C	21.37:g.40636873C>G	ENSP00000330753:p.Asp535His		OREG0003860	type=REGULATORY REGION|Gene=AK125906|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	895	BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.D535H|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_Intron|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.D255H	p.D535H	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			16	1742	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	535			WD 8.		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.1603G>C	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.566293|4.566293	0.86439|0.86439	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800|ENST00000455867	T;T;T|.	0.19394|.	2.15;2.15;2.15|.	5.19|5.19	5.19|5.19	0.71726|0.71726	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.86138|0.86138	0.5861|0.5861	M|M	0.91972|0.91972	3.26|3.26	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;0.998|.	D|D	0.88981|0.88981	0.3408|0.3408	10|5	0.87932|.	D|.	0|.	-11.554|-11.554	19.0586|19.0586	0.93078|0.93078	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	246;535;535|.	Q5R2U6;Q9NSI6-2;Q9NSI6|.	.;.;BRWD1_HUMAN|.	H|T	535|246	ENSP00000330753:D535H;ENSP00000344333:D535H;ENSP00000370178:D535H|.	ENSP00000330753:D535H|.	D|R	-|-	1|2	0|0	BRWD1|BRWD1	39558743|39558743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.354000|7.354000	0.79424|0.79424	2.583000|2.583000	0.87209|0.87209	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.373	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3		NM_033656		10	144	0	0	0	0.016723	0	10	144		
SLC19A1	6573	broad.mit.edu	37	21	46945798	46945798	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:46945798A>G	ENST00000311124.4	-	5	1378	c.1226T>C	c.(1225-1227)aTc>aCc	p.I409T	SLC19A1_ENST00000485649.2_Missense_Mutation_p.I369T|SLC19A1_ENST00000567670.1_Missense_Mutation_p.I409T|SLC19A1_ENST00000380010.4_Missense_Mutation_p.I409T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	409					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	GGTCTTGACGATGGTGGCAAA	0.577																																						uc002zhl.1		NaN																	0					0						c.(1225-1227)ATC>ACC		solute carrier family 19 member 1							143.0	127.0	133.0					21																	46945798		2203	4300	6503	SO:0001583	missense	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46945798A>G	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.1226T>C	21.37:g.46945798A>G	ENSP00000308895:p.Ile409Thr					SLC19A1_uc010gpy.1_Missense_Mutation_p.I409T|SLC19A1_uc011aft.1_Missense_Mutation_p.I369T|SLC19A1_uc002zhm.1_Missense_Mutation_p.I409T|SLC19A1_uc010gpz.1_Missense_Mutation_p.I288T	p.I409T	NM_194255	NP_919231	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	5	1345	-			409			Helical; (Probable).		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000311124.4	37	c.1226T>C	CCDS13725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.06|10.06	1.247696|1.247696	0.22880|0.22880	.|.	.|.	ENSG00000173638|ENSG00000173638	ENST00000380014;ENST00000311124;ENST00000380010;ENST00000485649|ENST00000417954	D;D;D|.	0.82433|.	-1.61;-1.61;-1.61|.	4.51|4.51	2.13|2.13	0.27403|0.27403	Major facilitator superfamily domain, general substrate transporter (1);|.	1.210320|.	0.06315|.	N|.	0.703433|.	T|T	0.40196|0.40196	0.1107|0.1107	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	D;D;D;D|.	0.59767|.	0.986;0.986;0.96;0.986|.	P;P;P;P|.	0.61275|.	0.886;0.886;0.765;0.886|.	T|T	0.26467|0.26467	-1.0102|-1.0102	10|5	0.52906|.	T|.	0.07|.	-10.2177|-10.2177	7.3196|7.3196	0.26519|0.26519	0.8072:0.0:0.1928:0.0|0.8072:0.0:0.1928:0.0	.|.	369;431;409;409|.	B7Z8C3;D3DSM6;E9PFY4;P41440|.	.;.;.;S19A1_HUMAN|.	T|P	156;409;409;369|144	ENSP00000308895:I409T;ENSP00000369347:I409T;ENSP00000441772:I369T|.	ENSP00000308895:I409T|.	I|S	-|-	2|1	0|0	SLC19A1|SLC19A1	45770226|45770226	0.068000|0.068000	0.21057|0.21057	0.006000|0.006000	0.13384|0.13384	0.013000|0.013000	0.08279|0.08279	3.615000|3.615000	0.54167|0.54167	0.233000|0.233000	0.21120|0.21120	0.533000|0.533000	0.62120|0.62120	ATC|TCG		0.577	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1				25	82	0	0	0	0.00632	0	25	82		
P2RX6	9127	broad.mit.edu	37	22	21377871	21377871	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr22:21377871A>G	ENST00000413302.2	+	8	1002	c.854A>G	c.(853-855)tAc>tGc	p.Y285C	P2RX6_ENST00000443995.3_Missense_Mutation_p.Y232C|P2RX6_ENST00000401443.1_Missense_Mutation_p.Y259C|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000336296.2_Missense_Mutation_p.Y275C			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	285					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										TGGCCTCACTACTCCTTCCAG	0.607																																						uc010gsu.1		NaN																	0					0						c.(853-855)TAC>TGC		purinergic receptor P2X6 isoform 1							68.0	53.0	58.0					22																	21377871		2203	4300	6503	SO:0001583	missense	9127				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr22:21377871A>G		CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8538	protein-coding gene	gene with protein product		608077	"""purinergic receptor P2X-like 1, orphan receptor"""	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.854A>G	22.37:g.21377871A>G	ENSP00000416193:p.Tyr285Cys					P2RX6_uc002ztz.2_Missense_Mutation_p.Y259C|P2RX6_uc002zua.2_RNA|P2RX6_uc002zuc.1_RNA	p.Y285C	NM_005446	NP_005437	O15547	P2RX6_HUMAN			8	854	+			285			Extracellular (Potential).		F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Missense_Mutation	SNP	ENST00000413302.2	37	c.854A>G	CCDS13788.2	.	.	.	.	.	.	.	.	.	.	A	21.4	4.139768	0.77775	.	.	ENSG00000099957	ENST00000413302;ENST00000336296;ENST00000401443;ENST00000443995	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	4.94	4.94	0.65067	.	0.000000	0.48767	D	0.000179	T	0.43743	0.1261	M	0.89785	3.06	0.42777	D	0.993858	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.983	T	0.54510	-0.8283	10	0.87932	D	0	-9.8131	12.857	0.57890	1.0:0.0:0.0:0.0	.	285;259	O15547;F6V3D7	P2RX6_HUMAN;.	C	285;275;259;232	ENSP00000416193:Y285C;ENSP00000338797:Y275C;ENSP00000385309:Y259C;ENSP00000408088:Y232C	ENSP00000338797:Y275C	Y	+	2	0	P2RX6	19707871	1.000000	0.71417	0.992000	0.48379	0.928000	0.56348	5.650000	0.67944	1.991000	0.58162	0.533000	0.62120	TAC		0.607	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319625.2		NM_005446		8	21	0	0	0	0.004482	0	8	21		
RASL10A	10633	broad.mit.edu	37	22	29709953	29709953	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr22:29709953C>G	ENST00000216101.6	-	2	752	c.243G>C	c.(241-243)tgG>tgC	p.W81C	RASL10A_ENST00000401450.3_Missense_Mutation_p.W81C|AC002059.10_ENST00000608014.1_RNA|RASL10A_ENST00000608559.1_5'UTR	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A	81	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						CCTGCAAGCTCCAGTCCTTAG	0.637																																						uc003aff.2		NaN																	0					0						c.(241-243)TGG>TGC		RAS-related on chromosome 22 isoform a							60.0	57.0	58.0					22																	29709953		2203	4300	6503	SO:0001583	missense	10633				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr22:29709953C>G	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106	ENST00000216101.6:c.243G>C	22.37:g.29709953C>G	ENSP00000216101:p.Trp81Cys					RASL10A_uc003afg.2_Missense_Mutation_p.W81C	p.W81C	NM_006477	NP_006468	Q92737	RSLAA_HUMAN			2	756	-			81			Small GTPase-like.		Q49AU5|Q6PI03	Missense_Mutation	SNP	ENST00000216101.6	37	c.243G>C	CCDS13854.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772815	0.49680	.	.	ENSG00000100276	ENST00000401450;ENST00000216101	T;T	0.79454	-0.19;-1.27	4.15	4.15	0.48705	.	0.059174	0.64402	D	0.000003	T	0.78457	0.4286	L	0.28649	0.875	0.58432	D	0.999998	D	0.69078	0.997	D	0.65443	0.935	T	0.79446	-0.1800	10	0.62326	D	0.03	.	9.4175	0.38530	0.2126:0.7874:0.0:0.0	.	81	Q92737	RSLAA_HUMAN	C	81	ENSP00000386095:W81C;ENSP00000216101:W81C	ENSP00000216101:W81C	W	-	3	0	RASL10A	28039953	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.437000	0.34991	1.858000	0.53909	0.462000	0.41574	TGG		0.637	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1				22	41	0	0	0	0.00632	0	22	41		
PKDREJ	10343	broad.mit.edu	37	22	46655856	46655856	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr22:46655856C>T	ENST00000253255.5	-	1	3363	c.3364G>A	c.(3364-3366)Ggt>Agt	p.G1122S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1122					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTCTTCTCACCAAGAATGCAA	0.498																																						uc003bhh.2		NaN																	0				breast(3)|ovary(2)	5						c.(3364-3366)GGT>AGT		receptor for egg jelly-like protein precursor							178.0	159.0	165.0					22																	46655856		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46655856C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3364G>A	22.37:g.46655856C>T	ENSP00000253255:p.Gly1122Ser						p.G1122S	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	3364	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1122			Extracellular (Potential).		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.3364G>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176975	0.78564	.	.	ENSG00000130943	ENST00000253255	T	0.46063	0.88	5.1	5.1	0.69264	GPS domain (1);	0.000000	0.64402	D	0.000005	T	0.62221	0.2410	M	0.64170	1.965	0.35423	D	0.793379	D	0.89917	1.0	D	0.87578	0.998	T	0.71344	-0.4621	10	0.59425	D	0.04	-32.0987	16.0362	0.80631	0.0:1.0:0.0:0.0	.	1122	Q9NTG1	PKDRE_HUMAN	S	1122	ENSP00000253255:G1122S	ENSP00000253255:G1122S	G	-	1	0	PKDREJ	45034520	0.983000	0.35010	0.161000	0.22692	0.025000	0.11179	5.389000	0.66255	2.554000	0.86153	0.462000	0.41574	GGT		0.498	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1		NM_006071		39	183	0	0	0	0.006999	0	39	183		
ZBED4	9889	broad.mit.edu	37	22	50280171	50280171	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr22:50280171T>A	ENST00000216268.5	+	2	3338	c.2861T>A	c.(2860-2862)cTc>cAc	p.L954H		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	954						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ATGTCCACCCTCAGCCAGGTC	0.602																																						uc003bix.2		NaN																	0				ovary(2)	2						c.(2860-2862)CTC>CAC		zinc finger, BED-type containing 4							85.0	59.0	67.0					22																	50280171		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50280171T>A	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.2861T>A	22.37:g.50280171T>A	ENSP00000216268:p.Leu954His						p.L954H	NM_014838	NP_055653	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	3331	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	954					B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.2861T>A	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	T	11.42	1.632342	0.29068	.	.	ENSG00000100426	ENST00000216268	T	0.25912	1.77	5.42	4.38	0.52667	Ribonuclease H-like (1);	0.081803	0.49916	D	0.000123	T	0.48840	0.1522	M	0.76328	2.33	0.24729	N	0.993107	D	0.76494	0.999	D	0.69142	0.962	T	0.45498	-0.9257	10	0.72032	D	0.01	-33.3276	12.7423	0.57259	0.0:0.0:0.1372:0.8628	.	954	O75132	ZBED4_HUMAN	H	954	ENSP00000216268:L954H	ENSP00000216268:L954H	L	+	2	0	ZBED4	48666175	1.000000	0.71417	0.004000	0.12327	0.004000	0.04260	7.329000	0.79170	1.058000	0.40530	-0.313000	0.08912	CTC		0.602	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2		NM_014838		9	41	0	0	0	0.010729	0	9	41		
BRPF1	7862	broad.mit.edu	37	3	9786008	9786008	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:9786008G>T	ENST00000457855.1	+	8	2729	c.2718G>T	c.(2716-2718)aaG>aaT	p.K906N	BRPF1_ENST00000433861.2_Intron|BRPF1_ENST00000383829.2_Missense_Mutation_p.K912N|BRPF1_ENST00000424362.1_Missense_Mutation_p.K905N|BRPF1_ENST00000302054.3_Missense_Mutation_p.K906N			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	906	Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GACCGCCCAAGAGGCCGGGCC	0.647																																						uc003bse.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2716-2718)AAG>AAT		bromodomain and PHD finger-containing protein 1							33.0	41.0	39.0					3																	9786008		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9786008G>T	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.2718G>T	3.37:g.9786008G>T	ENSP00000410210:p.Lys906Asn					BRPF1_uc003bsf.2_Missense_Mutation_p.K912N|BRPF1_uc003bsg.2_Missense_Mutation_p.K905N|BRPF1_uc011ati.1_Intron	p.K906N	NM_004634	NP_004625	P55201	BRPF1_HUMAN			9	3117	+	Medulloblastoma(99;0.227)		906			Required for RUNX1 and RUNX2 transcriptional activation.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.2718G>T	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423374	0.62733	.	.	ENSG00000156983	ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T	0.18657	2.2;3.6;2.2;2.2	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.32102	0.0818	M	0.71581	2.175	0.58432	D	0.999998	P;P;D	0.58268	0.955;0.955;0.982	P;P;P	0.50754	0.649;0.627;0.61	T	0.02015	-1.1229	10	0.30854	T	0.27	.	11.1336	0.48362	0.1103:0.0:0.8897:0.0	.	905;912;906	P55201-3;P55201-2;P55201	.;.;BRPF1_HUMAN	N	905;912;906;906	ENSP00000398863:K905N;ENSP00000373340:K912N;ENSP00000306297:K906N;ENSP00000410210:K906N	ENSP00000306297:K906N	K	+	3	2	BRPF1	9761008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.657000	0.46724	2.771000	0.95319	0.561000	0.74099	AAG		0.647	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1		NM_001003694		39	72	1	0	3.09479e-21	0.006999	3.38557e-21	39	72		
ENTPD3	956	broad.mit.edu	37	3	40464569	40464569	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:40464569T>A	ENST00000301825.3	+	8	1178	c.1060T>A	c.(1060-1062)Tct>Act	p.S354T	ENTPD3_ENST00000456402.1_Missense_Mutation_p.S354T|ENTPD3_ENST00000445129.1_Missense_Mutation_p.S354T|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	354					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		AGAAACCTGTTCTTTTGATGG	0.408																																						uc003ckd.3		NaN																	0				ovary(1)	1						c.(1060-1062)TCT>ACT		ectonucleoside triphosphate diphosphohydrolase							102.0	111.0	108.0					3																	40464569		2203	4300	6503	SO:0001583	missense	956					integral to membrane	ATP binding|hydrolase activity	g.chr3:40464569T>A	AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.1060T>A	3.37:g.40464569T>A	ENSP00000301825:p.Ser354Thr					ENTPD3_uc010hhy.2_Missense_Mutation_p.S354T|uc003cke.3_Intron	p.S354T	NM_001248	NP_001239	O75355	ENTP3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)	8	1152	+			354			Extracellular (Potential).		B2R8D0|G5E9N0|O60495|Q8N6K2	Missense_Mutation	SNP	ENST00000301825.3	37	c.1060T>A	CCDS2691.1	.	.	.	.	.	.	.	.	.	.	T	10.05	1.244697	0.22796	.	.	ENSG00000168032	ENST00000301825;ENST00000456402;ENST00000445129	T;T;T	0.10860	2.83;2.83;2.83	5.09	1.22	0.21188	.	0.104740	0.64402	D	0.000002	T	0.24084	0.0583	M	0.83118	2.625	0.42971	D	0.994436	D	0.58268	0.982	P	0.59288	0.855	T	0.01276	-1.1398	10	0.42905	T	0.14	-15.2882	5.4002	0.16291	0.0:0.164:0.1475:0.6885	.	354	O75355	ENTP3_HUMAN	T	354	ENSP00000301825:S354T;ENSP00000401565:S354T;ENSP00000404671:S354T	ENSP00000301825:S354T	S	+	1	0	ENTPD3	40439573	1.000000	0.71417	0.153000	0.22517	0.019000	0.09904	3.855000	0.55957	0.033000	0.15463	0.459000	0.35465	TCT		0.408	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2		NM_001248		82	105	0	0	0	0.01441	0	82	105		
ULK4	54986	broad.mit.edu	37	3	41841697	41841697	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:41841697C>T	ENST00000301831.4	-	20	2399	c.1937G>A	c.(1936-1938)gGa>gAa	p.G646E		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	646					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCCTATTTCTCCTGTAATAAA	0.418																																						uc003ckv.3		NaN																	0					0						c.(1936-1938)GGA>GAA		unc-51-like kinase 4							122.0	118.0	119.0					3																	41841697		1847	4101	5948	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41841697C>T	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1937G>A	3.37:g.41841697C>T	ENSP00000301831:p.Gly646Glu					ULK4_uc003ckw.2_Missense_Mutation_p.G646E	p.G646E	NM_017886	NP_060356	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	20	2138	-			646					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.1937G>A	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169116	0.38315	.	.	ENSG00000168038	ENST00000301831	T	0.62639	0.01	5.32	3.5	0.40072	Armadillo-like helical (1);Armadillo-type fold (2);	0.313649	0.29760	U	0.011262	T	0.56062	0.1960	L	0.48642	1.525	0.80722	D	1	P;P	0.37914	0.469;0.611	B;B	0.35114	0.103;0.196	T	0.59579	-0.7428	10	0.62326	D	0.03	.	16.0441	0.80707	0.0:0.7461:0.2539:0.0	.	646;646	B4E2M4;Q96C45	.;ULK4_HUMAN	E	646	ENSP00000301831:G646E	ENSP00000301831:G646E	G	-	2	0	ULK4	41816701	0.995000	0.38212	0.269000	0.24586	0.702000	0.40608	1.810000	0.38932	0.711000	0.32018	-0.264000	0.10439	GGA		0.418	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1		XM_929989		109	176	0	0	0	0.01441	0	109	176		
NKTR	4820	broad.mit.edu	37	3	42678913	42678913	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:42678913C>T	ENST00000232978.8	+	13	1905	c.1717C>T	c.(1717-1719)Cag>Tag	p.Q573*	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	573	Arg/Ser-rich.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AACAGCTTCTCAGTTAAGTGA	0.378																																						uc003clo.2		NaN																	0				ovary(2)|skin(1)	3						c.(1717-1719)CAG>TAG		natural killer-tumor recognition sequence							84.0	92.0	89.0					3																	42678913		2203	4300	6503	SO:0001587	stop_gained	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42678913C>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1717C>T	3.37:g.42678913C>T	ENSP00000232978:p.Gln573*					NKTR_uc003clm.1_Nonsense_Mutation_p.Q320*|NKTR_uc003clp.2_Nonsense_Mutation_p.Q320*|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Nonsense_Mutation_p.Q463*|NKTR_uc003clr.1_Nonsense_Mutation_p.Q320*|NKTR_uc003cls.2_Nonsense_Mutation_p.Q273*	p.Q573*	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	1864	+			573			Arg/Ser-rich.			Nonsense_Mutation	SNP	ENST00000232978.8	37	c.1717C>T	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	C	37	6.111910	0.97291	.	.	ENSG00000114857	ENST00000232978	.	.	.	5.65	5.65	0.86999	.	0.186094	0.44902	D	0.000405	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-6.9048	19.6982	0.96039	0.0:1.0:0.0:0.0	.	.	.	.	X	573	.	ENSP00000232978:Q573X	Q	+	1	0	NKTR	42653917	0.809000	0.29036	1.000000	0.80357	0.734000	0.41952	1.923000	0.40055	2.664000	0.90586	0.491000	0.48974	CAG		0.378	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2		NM_005385		53	184	0	0	0	0.01441	0	53	184		
ZKSCAN7	55888	broad.mit.edu	37	3	44612062	44612062	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:44612062G>C	ENST00000273320.3	+	6	1889	c.1460G>C	c.(1459-1461)aGa>aCa	p.R487T	ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R487T	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	487					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GACCACCAGAGAACCCATACT	0.458																																						uc010hin.2		NaN																	0				ovary(2)	2						c.(1459-1461)AGA>ACA		zinc finger protein 167 isoform 1							100.0	102.0	101.0					3																	44612062		2203	4300	6503	SO:0001583	missense	55888				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44612062G>C	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1460G>C	3.37:g.44612062G>C	ENSP00000273320:p.Arg487Thr					ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Missense_Mutation_p.R336T|ZNF167_uc003cnj.2_Missense_Mutation_p.R487T|ZNF167_uc003cnk.2_Intron	p.R487T	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)	6	1848	+			487			C2H2-type 4.		A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	c.1460G>C	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	14.80	2.643113	0.47153	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000447279	T;T;T	0.25414	4.3;4.3;1.8	4.26	4.26	0.50523	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35151	N	0.003410	T	0.49372	0.1553	M	0.72894	2.215	0.23943	N	0.996396	D;D	0.76494	0.999;0.982	D;P	0.71414	0.973;0.653	T	0.42258	-0.9462	10	0.72032	D	0.01	-4.5082	15.6354	0.76946	0.0:0.0:1.0:0.0	.	357;487	A7MAY2;Q9P0L1	.;ZN167_HUMAN	T	487;487;336	ENSP00000395524:R487T;ENSP00000273320:R487T;ENSP00000405034:R336T	ENSP00000273320:R487T	R	+	2	0	ZNF167	44587066	0.000000	0.05858	0.864000	0.33941	0.700000	0.40528	0.426000	0.21363	2.223000	0.72356	0.650000	0.86243	AGA		0.458	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4		NM_018651		40	164	0	0	0	0.009718	0	40	164		
ZNF197	10168	broad.mit.edu	37	3	44674010	44674010	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:44674010G>A	ENST00000396058.1	+	4	855	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	ZNF197_ENST00000344387.4_Missense_Mutation_p.E230K|ZNF197_ENST00000383744.4_Missense_Mutation_p.E230K|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Missense_Mutation_p.E230K			O14709	ZN197_HUMAN	zinc finger protein 197	230	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		CACTTCAGAGGAATGGGCATG	0.473																																						uc003cnm.2		NaN																	0				ovary(3)|skin(1)	4						c.(688-690)GAA>AAA		zinc finger protein 197 isoform 1							284.0	243.0	257.0					3																	44674010		2203	4300	6503	SO:0001583	missense	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44674010G>A	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.688G>A	3.37:g.44674010G>A	ENSP00000379370:p.Glu230Lys					ZNF197_uc003cnn.2_Missense_Mutation_p.E230K|ZNF197_uc003cno.2_RNA|ZNF197_uc003cnp.2_Missense_Mutation_p.E230K	p.E230K	NM_006991	NP_008922	O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	5	894	+			230			KRAB.		B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	c.688G>A	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779836	0.70222	.	.	ENSG00000186448	ENST00000383744;ENST00000536299;ENST00000344387;ENST00000383745;ENST00000396058	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	4.7	3.82	0.43975	Krueppel-associated box (4);	0.000000	0.37348	N	0.002140	T	0.40498	0.1119	H	0.95004	3.61	0.27583	N	0.949535	P;D	0.63880	0.855;0.993	P;P	0.57620	0.474;0.824	T	0.49113	-0.8973	10	0.66056	D	0.02	.	10.6755	0.45783	0.0944:0.0:0.9056:0.0	.	230;230	Q86VG0;O14709	.;ZN197_HUMAN	K	230	ENSP00000373250:E230K;ENSP00000345809:E230K;ENSP00000373251:E230K;ENSP00000379370:E230K	ENSP00000345809:E230K	E	+	1	0	ZNF197	44649014	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.963000	0.49184	1.333000	0.45449	0.591000	0.81541	GAA		0.473	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4		NM_006991		12	368	0	0	0	0.016723	0	12	368		
TGM4	7047	broad.mit.edu	37	3	44945406	44945406	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:44945406G>A	ENST00000296125.4	+	9	1070	c.1002G>A	c.(1000-1002)atG>atA	p.M334I	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	334					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ATGCCTGGATGAAGCGACCGG	0.617																																						uc003coc.3		NaN																	0				ovary(1)	1						c.(1000-1002)ATG>ATA		transglutaminase 4 (prostate)	L-Glutamine(DB00130)						96.0	101.0	99.0					3																	44945406		2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44945406G>A	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1002G>A	3.37:g.44945406G>A	ENSP00000296125:p.Met334Ile						p.M334I	NM_003241	NP_003232	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	9	1075	+			334					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.1002G>A	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019544	0.75275	.	.	ENSG00000163810	ENST00000296125	T	0.51817	0.69	2.04	2.04	0.26737	Transglutaminase-like (2);	0.000000	0.53938	U	0.000048	T	0.60586	0.2280	L	0.55743	1.74	0.54753	D	0.999989	D	0.65815	0.995	D	0.73380	0.98	T	0.64664	-0.6354	10	0.72032	D	0.01	.	12.6542	0.56778	0.0:0.0:1.0:0.0	.	334	P49221	TGM4_HUMAN	I	334	ENSP00000296125:M334I	ENSP00000296125:M334I	M	+	3	0	TGM4	44920410	1.000000	0.71417	0.717000	0.30585	0.103000	0.19146	4.814000	0.62627	1.038000	0.40049	0.462000	0.41574	ATG		0.617	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2		NM_003241		30	70	0	0	0	0.015359	0	30	70		
FYCO1	79443	broad.mit.edu	37	3	46006596	46006596	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:46006596T>A	ENST00000296137.2	-	9	3284	c.3079A>T	c.(3079-3081)Agc>Tgc	p.S1027C	FYCO1_ENST00000535325.1_Missense_Mutation_p.S1027C	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1027					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCCCTGAGGCTCTTGCACTCT	0.562																																						uc003cpb.3		NaN																	0				central_nervous_system(1)	1						c.(3079-3081)AGC>TGC		FYVE and coiled-coil domain containing 1							50.0	49.0	49.0					3																	46006596		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46006596T>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3079A>T	3.37:g.46006596T>A	ENSP00000296137:p.Ser1027Cys					FYCO1_uc011bal.1_Missense_Mutation_p.S1027C	p.S1027C	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	9	3285	-			1027			Potential.		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.3079A>T	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	T	11.12	1.546610	0.27652	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.78816	-1.21;-1.21	5.79	3.32	0.38043	.	0.516357	0.22714	N	0.056525	T	0.65984	0.2744	L	0.29908	0.895	0.09310	N	1	P;P	0.45569	0.69;0.861	B;B	0.39185	0.293;0.267	T	0.58070	-0.7701	10	0.62326	D	0.03	-9.1735	12.3009	0.54874	0.0:0.0:0.4106:0.5894	.	1027;1027	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	C	1027	ENSP00000296137:S1027C;ENSP00000441178:S1027C	ENSP00000296137:S1027C	S	-	1	0	FYCO1	45981600	0.209000	0.23505	0.576000	0.28549	0.265000	0.26407	0.813000	0.27225	0.415000	0.25817	0.533000	0.62120	AGC		0.562	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2		NM_024513		25	67	0	0	0	0.021523	0	25	67		
KIAA2018	205717	broad.mit.edu	37	3	113380114	113380114	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:113380114G>A	ENST00000478658.1	-	5	432	c.415C>T	c.(415-417)Cct>Tct	p.P139S	KIAA2018_ENST00000316407.4_Missense_Mutation_p.P139S|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	139						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGGTCACTAGGAATAACAACA	0.363																																						uc003eam.2		NaN																	0				skin(2)|ovary(1)	3						c.(415-417)CCT>TCT		hypothetical protein LOC205717							92.0	88.0	89.0					3																	113380114		1811	4076	5887	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113380114G>A	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.415C>T	3.37:g.113380114G>A	ENSP00000420721:p.Pro139Ser					KIAA2018_uc003eal.2_Missense_Mutation_p.P83S	p.P139S	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	826	-			139					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.415C>T	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550468	0.65311	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.38887	1.11;1.11	5.81	4.93	0.64822	.	0.066290	0.64402	N	0.000008	T	0.38799	0.1054	L	0.32530	0.975	0.80722	D	1	P	0.52316	0.952	P	0.45449	0.481	T	0.35919	-0.9769	10	0.87932	D	0	-6.0889	14.6243	0.68611	0.0696:0.0:0.9304:0.0	.	139	Q68DE3	K2018_HUMAN	S	139	ENSP00000320794:P139S;ENSP00000420721:P139S	ENSP00000320794:P139S	P	-	1	0	KIAA2018	114862804	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.314000	0.78988	1.462000	0.47948	0.655000	0.94253	CCT		0.363	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1		NM_001009899		8	208	0	0	0	0.00308	0	8	208		
U2SURP	23350	broad.mit.edu	37	3	142747454	142747454	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:142747454G>C	ENST00000473835.2	+	16	1666	c.1576G>C	c.(1576-1578)Gag>Cag	p.E526Q	U2SURP_ENST00000397933.2_Missense_Mutation_p.E117Q|U2SURP_ENST00000493598.2_Missense_Mutation_p.E525Q	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	526					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AGCTTTTGTAGAGGAACCTAG	0.343																																						uc003evh.1		NaN																	0					0						c.(1576-1578)GAG>CAG		U2-associated SR140 protein							109.0	103.0	105.0					3																	142747454		1818	4079	5897	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142747454G>C	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.1576G>C	3.37:g.142747454G>C	ENSP00000418563:p.Glu526Gln					SR140_uc003evi.1_Missense_Mutation_p.E117Q|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.E525Q|SR140_uc003evl.1_Missense_Mutation_p.E93Q	p.E526Q	NM_001080415	NP_001073884	O15042	SR140_HUMAN			16	1675	+			526					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.1576G>C	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352552	0.61293	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000397933;ENST00000493598;ENST00000480029	T;T	0.10763	2.84;2.84	5.95	5.95	0.96441	.	0.042896	0.85682	D	0.000000	T	0.17874	0.0429	L	0.39245	1.2	0.80722	D	1	P;P;P	0.50819	0.929;0.939;0.883	P;P;P	0.51193	0.662;0.617;0.46	T	0.02238	-1.1190	10	0.16420	T	0.52	-16.4008	20.3886	0.98946	0.0:0.0:1.0:0.0	.	525;117;526	O15042-2;O15042-3;O15042	.;.;SR140_HUMAN	Q	526;526;117;525;93	ENSP00000418563:E526Q;ENSP00000422011:E525Q	ENSP00000322376:E526Q	E	+	1	0	U2SURP	144230144	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.439000	0.97543	2.810000	0.96702	0.650000	0.86243	GAG		0.343	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2		NM_001080415		29	80	0	0	0	0.010818	0	29	80		
PLOD2	5352	broad.mit.edu	37	3	145806415	145806415	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:145806415C>T	ENST00000360060.3	-	9	1140	c.963G>A	c.(961-963)ctG>ctA	p.L321L	RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000461497.1_5'Flank|PLOD2_ENST00000282903.5_Silent_p.L321L|PLOD2_ENST00000494950.1_Silent_p.L266L	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	321					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TTGGGTAATCCAGTGTCAACA	0.323																																						uc003evs.1		NaN																	0				ovary(1)|skin(1)	2						c.(961-963)CTG>CTA		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Vitamin C(DB00126)						80.0	77.0	78.0					3																	145806415		2202	4297	6499	SO:0001819	synonymous_variant	5352				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr3:145806415C>T	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.963G>A	3.37:g.145806415C>T						PLOD2_uc003evq.1_5'Flank|PLOD2_uc011bnm.1_Silent_p.L266L|PLOD2_uc003evr.1_Silent_p.L321L	p.L321L	NM_000935	NP_000926	O00469	PLOD2_HUMAN			9	1469	-			321					B3KWS3|Q59ED2|Q8N170	Silent	SNP	ENST00000360060.3	37	c.963G>A	CCDS3131.1																																																																																				0.323	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1		NM_000935		27	56	0	0	0	0.00632	0	27	56		
P2RY1	5028	broad.mit.edu	37	3	152554107	152554107	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:152554107T>C	ENST00000305097.3	+	1	1372	c.536T>C	c.(535-537)gTg>gCg	p.V179A		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	179					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TGGCTCATTGTGGTGGTGGCG	0.567																																						uc003ezq.2		NaN																	0				lung(1)	1						c.(535-537)GTG>GCG		purinergic receptor P2Y1							165.0	133.0	144.0					3																	152554107		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152554107T>C	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.536T>C	3.37:g.152554107T>C	ENSP00000304767:p.Val179Ala						p.V179A	NM_002563	NP_002554	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1372	+			179			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000305097.3	37	c.536T>C	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.456855	0.84317	.	.	ENSG00000169860	ENST00000305097	T	0.32988	1.43	5.76	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.23688	0.0573	L	0.28274	0.84	0.58432	D	0.999998	B	0.23650	0.089	B	0.31751	0.135	T	0.04579	-1.0941	10	0.22109	T	0.4	.	11.5752	0.50858	0.1336:0.0:0.0:0.8664	.	179	P47900	P2RY1_HUMAN	A	179	ENSP00000304767:V179A	ENSP00000304767:V179A	V	+	2	0	P2RY1	154036797	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.930000	0.87610	0.979000	0.38497	0.533000	0.62120	GTG		0.567	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1		NM_002563		36	52	0	0	0	0.005524	0	36	52		
SEC62	7095	broad.mit.edu	37	3	169706098	169706098	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:169706098C>T	ENST00000337002.4	+	7	739	c.681C>T	c.(679-681)ctC>ctT	p.L227L	SEC62_ENST00000470355.1_3'UTR|SEC62_ENST00000480708.1_Silent_p.L227L|SEC62-AS1_ENST00000479626.1_RNA	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	227					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						TTTATTACCTCAGTGTGGGTG	0.413																																						uc003fgg.2		NaN																	0				ovary(1)	1						c.(679-681)CTC>CTT		translocation protein 1							203.0	187.0	192.0					3																	169706098		2203	4300	6503	SO:0001819	synonymous_variant	7095				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	g.chr3:169706098C>T	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"""translocation protein 1"""	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.681C>T	3.37:g.169706098C>T						SEC62_uc003fgh.2_Silent_p.L227L	p.L227L	NM_003262	NP_003253	Q99442	SEC62_HUMAN			7	712	+			227			Lumenal (Potential).		D3DNQ0|O00682|O00729	Silent	SNP	ENST00000337002.4	37	c.681C>T	CCDS3210.1																																																																																				0.413	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1				60	216	0	0	0	0.01441	0	60	216		
CCDC50	152137	broad.mit.edu	37	3	191047481	191047481	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:191047481C>G	ENST00000392455.3	+	1	616	c.18C>G	c.(16-18)atC>atG	p.I6M	UTS2B_ENST00000490825.1_5'Flank|CCDC50_ENST00000392456.3_Missense_Mutation_p.I6M|UTS2B_ENST00000340524.5_Intron	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	6						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AAGTCAGCATCGACCAGTCCA	0.701																																						uc003fsw.2		NaN																	0					0						c.(16-18)ATC>ATG		Ymer protein short isoform							25.0	27.0	26.0					3																	191047481		2201	4297	6498	SO:0001583	missense	152137					cytoplasm	protein binding	g.chr3:191047481C>G	AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.18C>G	3.37:g.191047481C>G	ENSP00000376249:p.Ile6Met					CCDC50_uc003fsv.2_Missense_Mutation_p.I6M|UTS2D_uc003fsu.2_Intron	p.I6M	NM_174908	NP_777568	Q8IVM0	CCD50_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)	1	608	+	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		6					Q86VH7	Missense_Mutation	SNP	ENST00000392455.3	37	c.18C>G	CCDS33913.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997093	0.54147	.	.	ENSG00000152492	ENST00000392455;ENST00000392456	T;T	0.54071	0.59;0.59	4.24	1.36	0.22044	.	0.109627	0.64402	D	0.000010	T	0.55909	0.1950	L	0.46157	1.445	0.31539	N	0.660216	P;D	0.71674	0.949;0.998	P;D	0.69307	0.54;0.963	T	0.58612	-0.7606	10	0.72032	D	0.01	.	2.692	0.05123	0.1892:0.5223:0.1834:0.1051	.	6;6	Q8IVM0;Q8IVM0-2	CCD50_HUMAN;.	M	6	ENSP00000376249:I6M;ENSP00000376250:I6M	ENSP00000376249:I6M	I	+	3	3	CCDC50	192530175	1.000000	0.71417	0.977000	0.42913	0.548000	0.35241	0.254000	0.18314	0.147000	0.19030	0.563000	0.77884	ATC		0.701	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1		NM_174908		4	4	0	0	0	0.001168	0	4	4		
TACC3	10460	broad.mit.edu	37	4	1725159	1725159	+	Missense_Mutation	SNP	A	A	G	rs145470576	byFrequency	TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:1725159A>G	ENST00000313288.4	+	2	117	c.11A>G	c.(10-12)cAg>cGg	p.Q4R	TMEM129_ENST00000382936.3_5'Flank|TMEM129_ENST00000303277.2_5'Flank|TMEM129_ENST00000536901.1_5'Flank	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	4					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			ATGAGTCTGCAGGTCTTAAAC	0.458																																					Ovarian(120;482 2294 11894 35824)	uc003gdo.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(10-12)CAG>CGG		transforming, acidic coiled-coil containing		A	ARG/GLN	0,4406		0,0,2203	53.0	51.0	52.0		11	3.9	0.7	4	dbSNP_134	52	8,8590	6.4+/-24.3	0,8,4291	yes	missense	TACC3	NM_006342.1	43	0,8,6494	GG,GA,AA		0.093,0.0,0.0615	possibly-damaging	4/839	1725159	8,12996	2203	4299	6502	SO:0001583	missense	10460					centrosome		g.chr4:1725159A>G	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.11A>G	4.37:g.1725159A>G	ENSP00000326550:p.Gln4Arg					TMEM129_uc003gdn.2_5'Flank|TMEM129_uc003gdm.2_5'Flank|TACC3_uc010ibz.2_Missense_Mutation_p.Q4R|TACC3_uc003gdp.2_Missense_Mutation_p.Q4R	p.Q4R	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		2	119	+		Breast(71;0.212)|all_epithelial(65;0.241)	4					Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	c.11A>G	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234785	0.58886	0.0	9.3E-4	ENSG00000013810	ENST00000485989;ENST00000313288;ENST00000343760;ENST00000493975;ENST00000458173	T;T;T;T	0.52526	0.76;2.62;0.66;0.67	5.09	3.88	0.44766	.	0.399017	0.20598	N	0.089204	T	0.60945	0.2308	M	0.70275	2.135	0.39289	D	0.964693	D;D;D	0.61080	0.974;0.989;0.986	P;P;P	0.58660	0.736;0.843;0.738	T	0.64015	-0.6506	10	0.54805	T	0.06	-6.028	11.182	0.48633	0.8622:0.0:0.0:0.1378	.	4;4;4	B4DYJ1;C9JWI7;Q9Y6A5	.;.;TACC3_HUMAN	R	4	ENSP00000419210:Q4R;ENSP00000326550:Q4R;ENSP00000418095:Q4R;ENSP00000415914:Q4R	ENSP00000326550:Q4R	Q	+	2	0	TACC3	1694957	0.991000	0.36638	0.724000	0.30704	0.499000	0.33736	2.917000	0.48821	0.762000	0.33152	0.533000	0.62120	CAG		0.458	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2				3	35	0	0	0	0.004672	0	3	35		
EVC	2121	broad.mit.edu	37	4	5733227	5733227	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:5733227G>C	ENST00000264956.6	+	4	644	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	EVC_ENST00000382674.2_Missense_Mutation_p.E154Q|EVC_ENST00000509451.1_Missense_Mutation_p.E154Q	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	154					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCAGCCGGTAGAGGCCTCTCC	0.602																																						uc003gil.1		NaN																	0				ovary(1)|skin(1)	2						c.(460-462)GAG>CAG		Ellis van Creveld syndrome protein							68.0	73.0	71.0					4																	5733227		2203	4300	6503	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5733227G>C	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.460G>C	4.37:g.5733227G>C	ENSP00000264956:p.Glu154Gln					EVC_uc003gim.1_RNA	p.E154Q	NM_153717	NP_714928	P57679	EVC_HUMAN			4	644	+		Myeloproliferative disorder(84;0.117)	154						Missense_Mutation	SNP	ENST00000264956.6	37	c.460G>C	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228763	0.39399	.	.	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.56611	0.45;0.45;0.54	3.95	3.95	0.45737	.	0.401181	0.25698	N	0.028889	T	0.67297	0.2878	M	0.66939	2.045	0.27868	N	0.940147	D	0.69078	0.997	P	0.61658	0.892	T	0.64106	-0.6485	10	0.72032	D	0.01	.	15.5374	0.76013	0.0:0.0:1.0:0.0	.	154	P57679	EVC_HUMAN	Q	154	ENSP00000264956:E154Q;ENSP00000372120:E154Q;ENSP00000426774:E154Q	ENSP00000264956:E154Q	E	+	1	0	EVC	5784128	0.998000	0.40836	0.138000	0.22173	0.056000	0.15407	3.887000	0.56197	2.206000	0.71126	0.561000	0.74099	GAG		0.602	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1				19	27	0	0	0	0.017118	0	19	27		
BOD1L1	259282	broad.mit.edu	37	4	13601779	13601779	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:13601779C>G	ENST00000040738.5	-	10	6880	c.6745G>C	c.(6745-6747)Gaa>Caa	p.E2249Q		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2249						nucleus (GO:0005634)	DNA binding (GO:0003677)										CCGTCTTTTTCTTCCATGACT	0.517																																						uc003gmz.1		NaN																	0				ovary(5)|breast(1)	6						c.(6745-6747)GAA>CAA		biorientation of chromosomes in cell division							88.0	75.0	80.0					4																	13601779		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13601779C>G	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6745G>C	4.37:g.13601779C>G	ENSP00000040738:p.Glu2249Gln					BOD1L_uc010idr.1_Missense_Mutation_p.E1586Q	p.E2249Q	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	6862	-			2249					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.6745G>C	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677447	0.47886	.	.	ENSG00000038219	ENST00000040738	T	0.08807	3.05	4.26	4.26	0.50523	.	0.161017	0.29335	N	0.012456	T	0.15089	0.0364	M	0.71036	2.16	0.09310	N	1	D	0.58970	0.984	P	0.52109	0.69	T	0.10965	-1.0607	10	0.30854	T	0.27	.	6.6828	0.23129	0.1774:0.7282:0.0:0.0944	.	2249	Q8NFC6	BOD1L_HUMAN	Q	2249	ENSP00000040738:E2249Q	ENSP00000040738:E2249Q	E	-	1	0	BOD1L	13210877	0.178000	0.23122	0.793000	0.32043	0.701000	0.40568	0.678000	0.25277	1.944000	0.56390	0.650000	0.86243	GAA		0.517	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1		NM_148894		22	6	0	0	0	0.014323	0	22	6		
RBM47	54502	broad.mit.edu	37	4	40434800	40434800	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:40434800G>C	ENST00000381793.2	-	5	1806	c.1410C>G	c.(1408-1410)atC>atG	p.I470M	RBM47_ENST00000295971.7_Missense_Mutation_p.I470M|RBM47_ENST00000319592.4_Missense_Mutation_p.I401M|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000381795.6_Missense_Mutation_p.I401M|RBM47_ENST00000514014.1_Missense_Mutation_p.I432M			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	470					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCACTGTGTGGATTTTGCCAT	0.592																																						uc003gvc.2		NaN																	0				breast(3)	3						c.(1408-1410)ATC>ATG		RNA binding motif protein 47 isoform a							81.0	73.0	76.0					4																	40434800		2203	4300	6503	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40434800G>C	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1410C>G	4.37:g.40434800G>C	ENSP00000371212:p.Ile470Met					RBM47_uc003gvd.2_Missense_Mutation_p.I401M|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.I432M	p.I470M	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			6	2120	-			470					A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.1410C>G	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939224	0.34189	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014	T;T;T;T;T	0.18502	2.26;2.21;2.26;2.21;2.22	5.43	3.71	0.42584	.	0.110120	0.64402	D	0.000006	T	0.12944	0.0314	L	0.41236	1.265	0.09310	N	0.999991	B;B	0.26195	0.112;0.144	B;B	0.18561	0.022;0.022	T	0.18777	-1.0326	10	0.33940	T	0.23	-21.2621	8.9806	0.35964	0.224:0.0:0.776:0.0	.	401;470	A0AV96-2;A0AV96	.;RBM47_HUMAN	M	401;470;401;470;432	ENSP00000320108:I401M;ENSP00000371212:I470M;ENSP00000371214:I401M;ENSP00000295971:I470M;ENSP00000423243:I432M	ENSP00000295971:I470M	I	-	3	3	RBM47	40129557	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	1.648000	0.37271	0.681000	0.31386	-0.339000	0.08088	ATC		0.592	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2		NM_019027		11	18	0	0	0	0.010729	0	11	18		
CLOCK	9575	broad.mit.edu	37	4	56336930	56336930	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:56336930A>G	ENST00000309964.4	-	7	642	c.392T>C	c.(391-393)aTa>aCa	p.I131T	CLOCK_ENST00000381322.1_Missense_Mutation_p.I131T|CLOCK_ENST00000513440.1_Missense_Mutation_p.I131T	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	131	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CACATATATTATGCTTCCATC	0.284																																						uc003haz.1		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(391-393)ATA>ACA		clock							93.0	99.0	97.0					4																	56336930		2202	4299	6501	SO:0001583	missense	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56336930A>G	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.392T>C	4.37:g.56336930A>G	ENSP00000308741:p.Ile131Thr					CLOCK_uc003hba.1_Missense_Mutation_p.I131T	p.I131T	NM_004898	NP_004889	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		9	1318	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		131			PAS 1.		A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	37	c.392T>C	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.571472	0.86542	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.23348	1.91;1.91;1.91	5.58	5.58	0.84498	PAS (2);PAS fold (1);	0.039807	0.85682	D	0.000000	T	0.59418	0.2192	M	0.91768	3.24	0.80722	D	1	D	0.58970	0.984	D	0.68039	0.955	T	0.69558	-0.5113	10	0.87932	D	0	.	16.0439	0.80704	1.0:0.0:0.0:0.0	.	131	O15516	CLOCK_HUMAN	T	131	ENSP00000308741:I131T;ENSP00000370723:I131T;ENSP00000426983:I131T	ENSP00000308741:I131T	I	-	2	0	CLOCK	56031687	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.648000	0.91062	2.250000	0.74265	0.482000	0.46254	ATA		0.284	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2		NM_004898		52	151	0	0	0	0.01441	0	52	151		
ADAMTS3	9508	broad.mit.edu	37	4	73414511	73414511	+	Missense_Mutation	SNP	G	G	A	rs145300703		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:73414511G>A	ENST00000286657.4	-	3	224	c.188C>T	c.(187-189)gCg>gTg	p.A63V	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	63					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTGTGACTCGCAGAAAGAGT	0.448																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1		NaN																	0				ovary(1)|lung(1)	2						c.(187-189)GCG>GTG		ADAM metallopeptidase with thrombospondin type 1		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	81.0	77.0	78.0		188	5.7	1.0	4	dbSNP_134	78	0,8600		0,0,4300	no	missense	ADAMTS3	NM_014243.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	63/1206	73414511	1,13005	2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73414511G>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.188C>T	4.37:g.73414511G>A	ENSP00000286657:p.Ala63Val						p.A63V	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	225	-			63					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.188C>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303082	0.60195	2.27E-4	0.0	ENSG00000156140	ENST00000286657	T	0.61274	0.12	5.74	5.74	0.90152	Peptidase M12B, propeptide (1);	0.000000	0.64402	D	0.000004	T	0.48874	0.1524	L	0.47716	1.5	0.54753	D	0.999986	B	0.25312	0.123	B	0.25291	0.059	T	0.36212	-0.9757	10	0.17369	T	0.5	.	12.5862	0.56419	0.0756:0.0:0.9244:0.0	.	63	O15072	ATS3_HUMAN	V	63	ENSP00000286657:A63V	ENSP00000286657:A63V	A	-	2	0	ADAMTS3	73633375	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	6.636000	0.74299	2.861000	0.98227	0.643000	0.83706	GCG		0.448	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2				23	67	0	0	0	0.014323	0	23	67		
CXCL6	6372	broad.mit.edu	37	4	74702788	74702788	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:74702788C>G	ENST00000226317.5	+	2	471	c.217C>G	c.(217-219)Ccg>Gcg	p.P73A	CXCL6_ENST00000515050.1_Missense_Mutation_p.P73A	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	73					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CCCCGCAGGCCCGCAGTGCTC	0.542																																						uc003hhf.2		NaN																	0					0						c.(217-219)CCG>GCG		chemokine (C-X-C motif) ligand 6 (granulocyte							101.0	132.0	122.0					4																	74702788		2203	4300	6503	SO:0001583	missense	6372				cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	g.chr4:74702788C>G	U83303	CCDS3560.1	4q13.3	2013-02-25	2012-10-17	2002-08-23	ENSG00000124875	ENSG00000124875		"""Endogenous ligands"""	10643	protein-coding gene	gene with protein product	"""granulocyte chemotactic protein 2"""	138965	"""small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2)"", ""chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2)"""	SCYB6		9465307	Standard	NM_002993		Approved	GCP-2, CKA-3	uc003hhf.3	P80162	OTTHUMG00000130010	ENST00000226317.5:c.217C>G	4.37:g.74702788C>G	ENSP00000226317:p.Pro73Ala					IL8_uc011cbh.1_Intron	p.P73A	NM_002993	NP_002984	P80162	CXCL6_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		2	412	+	Breast(15;0.00102)		73					B2R4X3|Q4W5D4	Missense_Mutation	SNP	ENST00000226317.5	37	c.217C>G	CCDS3560.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779293	0.31502	.	.	ENSG00000124875	ENST00000226317;ENST00000515050	T;T	0.04862	3.54;3.54	3.86	3.86	0.44501	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	M	0.80982	2.52	0.20638	N	0.999877	D	0.89917	1.0	D	0.87578	0.998	T	0.01574	-1.1321	10	0.51188	T	0.08	.	11.494	0.50398	0.0:1.0:0.0:0.0	.	73	P80162	CXCL6_HUMAN	A	73	ENSP00000226317:P73A;ENSP00000424819:P73A	ENSP00000226317:P73A	P	+	1	0	CXCL6	74921652	0.056000	0.20664	0.253000	0.24343	0.050000	0.14768	1.930000	0.40124	2.148000	0.66965	0.585000	0.79938	CCG		0.542	CXCL6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252283.2		NM_002993		12	56	0	0	0	0.010729	0	12	56		
HNRNPDL	9987	broad.mit.edu	37	4	83349206	83349206	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:83349206C>T	ENST00000295470.5	-	3	914	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	HNRNPDL_ENST00000502762.1_Missense_Mutation_p.E247K|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.E128K|ENOPH1_ENST00000509635.1_5'Flank|HNRNPDL_ENST00000514511.1_Intron|HNRNPDL_ENST00000349655.4_Missense_Mutation_p.E128K|ENOPH1_ENST00000273920.3_5'Flank	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	247	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										TTAATTTGTTCTTCAGAAGTA	0.383																																						uc003hmr.2		NaN																	0				skin(1)	1						c.(739-741)GAA>AAA		heterogeneous nuclear ribonucleoprotein D-like							79.0	80.0	80.0					4																	83349206		2202	4300	6502	SO:0001583	missense	9987				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding	g.chr4:83349206C>T	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.739G>A	4.37:g.83349206C>T	ENSP00000295470:p.Glu247Lys					ENOPH1_uc003hmv.2_5'Flank|ENOPH1_uc003hmw.2_5'Flank|ENOPH1_uc003hmx.2_5'Flank|HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Missense_Mutation_p.E247K	p.E247K	NM_031372	NP_112740	O14979	HNRDL_HUMAN			3	1274	-		Hepatocellular(203;0.114)	247			RRM 2.		Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	ENST00000295470.5	37	c.739G>A	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	c	36	5.644399	0.96704	.	.	ENSG00000152795	ENST00000295470;ENST00000502762;ENST00000349655	D;D;D	0.85484	-1.99;-1.99;-1.99	5.74	5.74	0.90152	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.051425	0.85682	D	0.000000	D	0.89598	0.6761	L	0.58810	1.83	0.80722	D	1	P;P	0.48998	0.918;0.616	P;P	0.54346	0.749;0.672	D	0.89600	0.3834	10	0.72032	D	0.01	.	20.2825	0.98528	0.0:1.0:0.0:0.0	.	128;247	O14979-3;O14979	.;HNRDL_HUMAN	K	247;247;128	ENSP00000295470:E247K;ENSP00000422040:E247K;ENSP00000338552:E128K	ENSP00000295470:E247K	E	-	1	0	HNRPDL	83568230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.474000	0.81024	2.873000	0.98535	0.561000	0.74099	GAA		0.383	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1		NM_005463		27	88	0	0	0	0.00632	0	27	88		
PDHA2	5161	broad.mit.edu	37	4	96761377	96761377	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:96761377C>A	ENST00000295266.4	+	1	139	c.76C>A	c.(76-78)Cgt>Agt	p.R26S		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	26					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.R26S(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		GGTGGCATCCCGTAACTCCTC	0.522																																						uc003htr.3		NaN																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(76-78)CGT>AGT		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						56.0	56.0	56.0					4																	96761377		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761377C>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.76C>A	4.37:g.96761377C>A	ENSP00000295266:p.Arg26Ser						p.R26S	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	139	+		Hepatocellular(203;0.114)	26					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.76C>A	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914559	0.33815	.	.	ENSG00000163114	ENST00000295266	D	0.97328	-4.34	4.52	-4.39	0.03611	.	0.242826	0.40728	N	0.001028	D	0.92805	0.7712	M	0.71581	2.175	0.09310	N	1	B	0.28055	0.199	B	0.29716	0.106	D	0.83633	0.0146	10	0.18710	T	0.47	-3.6194	2.1172	0.03716	0.1577:0.4105:0.1615:0.2703	.	26	P29803	ODPAT_HUMAN	S	26	ENSP00000295266:R26S	ENSP00000295266:R26S	R	+	1	0	PDHA2	96980400	0.000000	0.05858	0.000000	0.03702	0.625000	0.37756	-0.660000	0.05317	-0.535000	0.06307	-0.670000	0.03821	CGT		0.522	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1				10	23	1	0	0.000442599	0.006214	0.000450898	10	23		
LRIT3	345193	broad.mit.edu	37	4	110788968	110788968	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:110788968C>T	ENST00000594814.1	+	3	761	c.761C>T	c.(760-762)cCa>cTa	p.P254L	LRIT3_ENST00000327908.3_Missense_Mutation_p.P71L|LRIT3_ENST00000379920.3_Missense_Mutation_p.P209L|LRIT3_ENST00000409621.2_Missense_Mutation_p.P71L	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	254	Ig-like.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TGTCTGAAACCATCAGTGATG	0.512																																						uc003hzx.3		NaN																	0					0						c.(625-627)CCA>CTA		leucine-rich repeat, immunoglobulin-like and							130.0	117.0	121.0					4																	110788968		2203	4300	6503	SO:0001583	missense	345193					integral to membrane		g.chr4:110788968C>T	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.761C>T	4.37:g.110788968C>T	ENSP00000469759:p.Pro254Leu					LRIT3_uc003hzw.3_Missense_Mutation_p.P71L	p.P209L	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	2	819	+			209			Ig-like.		C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	c.626C>T	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676939	0.88445	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.75477	-0.94;-0.94;-0.94	5.88	5.03	0.67393	Immunoglobulin-like (1);	0.050460	0.85682	N	0.000000	D	0.90676	0.7075	H	0.96916	3.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93625	0.6951	10	0.87932	D	0	.	14.8866	0.70572	0.0:0.9312:0.0:0.0687	.	209;71	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	L	71;209;71	ENSP00000328222:P71L;ENSP00000369252:P209L;ENSP00000386734:P71L	ENSP00000328222:P71L	P	+	2	0	LRIT3	111008417	1.000000	0.71417	0.993000	0.49108	0.943000	0.58893	7.487000	0.81328	1.485000	0.48380	0.655000	0.94253	CCA		0.512	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2		NM_198506		37	43	0	0	0	0.017118	0	37	43		
SYNPO2	171024	broad.mit.edu	37	4	119952786	119952786	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:119952786G>C	ENST00000429713.2	+	4	3038	c.2856G>C	c.(2854-2856)aaG>aaC	p.K952N	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Missense_Mutation_p.K952N|SYNPO2_ENST00000434046.2_Missense_Mutation_p.K952N	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	952						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAATGGGCAAGAAAAAGGGAA	0.498																																						uc003icm.3		NaN																	0				ovary(2)	2						c.(2854-2856)AAG>AAC		synaptopodin 2 isoform b							79.0	72.0	75.0					4																	119952786		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119952786G>C	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2856G>C	4.37:g.119952786G>C	ENSP00000395143:p.Lys952Asn					SYNPO2_uc010ina.2_Missense_Mutation_p.K952N|SYNPO2_uc010inb.2_Missense_Mutation_p.K952N|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.K880N	p.K952N	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN			4	3052	+			952					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.2856G>C	CCDS47129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.38|14.38	2.518180|2.518180	0.44763|0.44763	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000504178|ENST00000307142;ENST00000429713;ENST00000434046	.|T;T;T	.|0.10288	.|2.89;2.91;2.91	5.31|5.31	4.41|4.41	0.53225|0.53225	.|.	.|0.209202	.|0.33457	.|N	.|0.004883	T|T	0.23572|0.23572	0.0570|0.0570	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;P;D;B	.|0.76494	.|0.999;0.952;0.998;0.406	.|D;P;P;B	.|0.65233	.|0.933;0.554;0.852;0.206	T|T	0.00466|0.00466	-1.1722|-1.1722	5|9	.|.	.|.	.|.	-25.2491|-25.2491	6.2118|6.2118	0.20633|0.20633	0.1606:0.1676:0.6718:0.0|0.1606:0.1676:0.6718:0.0	.|.	.|952;952;952;952	.|B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.|.;.;.;SYNP2_HUMAN	Q|N	904|952	.|ENSP00000306015:K952N;ENSP00000395143:K952N;ENSP00000390965:K952N	.|.	E|K	+|+	1|3	0|2	SYNPO2|SYNPO2	120172234|120172234	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.735000|0.735000	0.41995|0.41995	1.944000|1.944000	0.40263|0.40263	2.493000|2.493000	0.84123|0.84123	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.498	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1				8	40	0	0	0	0.004482	0	8	40		
ANXA5	308	broad.mit.edu	37	4	122590871	122590871	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:122590871C>T	ENST00000296511.5	-	12	1074	c.789G>A	c.(787-789)ggG>ggA	p.G263G	ANXA5_ENST00000515017.1_Silent_p.G163G|ANXA5_ENST00000501272.2_Silent_p.G203G	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	263					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						GATCATCTGTCCCAGCTCCCT	0.393																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)	uc003idu.3		NaN																	0				ovary(1)	1						c.(787-789)GGG>GGA		annexin 5							76.0	77.0	76.0					4																	122590871		2203	4300	6503	SO:0001819	synonymous_variant	308				anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr4:122590871C>T	U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"""Annexins"""	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.789G>A	4.37:g.122590871C>T						ANXA5_uc003idv.3_Silent_p.G263G|ANXA5_uc003idw.3_RNA|ANXA5_uc010inm.2_Intron|ANXA5_uc010inn.2_Silent_p.G203G|ANXA5_uc010ino.2_Silent_p.G163G	p.G263G	NM_001154	NP_001145	P08758	ANXA5_HUMAN			11	859	-			263			Annexin 4.		D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Silent	SNP	ENST00000296511.5	37	c.789G>A	CCDS3720.1																																																																																				0.393	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256636.2		NM_001154		26	53	0	0	0	0.021523	0	26	53		
FAT4	79633	broad.mit.edu	37	4	126369781	126369781	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:126369781C>T	ENST00000394329.3	+	9	7623	c.7610C>T	c.(7609-7611)tCt>tTt	p.S2537F	FAT4_ENST00000335110.5_Missense_Mutation_p.S835F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2537	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTGACATTTTCTGTGCATGTA	0.438																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(7609-7611)TCT>TTT		FAT tumor suppressor homolog 4 precursor							79.0	78.0	78.0					4																	126369781		2203	4299	6502	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126369781C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7610C>T	4.37:g.126369781C>T	ENSP00000377862:p.Ser2537Phe					FAT4_uc011cgp.1_Missense_Mutation_p.S835F|FAT4_uc003ifi.1_Missense_Mutation_p.S15F	p.S2537F	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	7610	+			2537			Extracellular (Potential).|Cadherin 24.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.7610C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860269	0.32884	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.53640	0.61;0.61	5.72	4.7	0.59300	Cadherin (4);Cadherin-like (1);	0.000000	0.34411	U	0.003992	T	0.38188	0.1031	L	0.28556	0.865	0.34323	D	0.686821	B;B;B	0.11235	0.001;0.004;0.003	B;B;B	0.09377	0.004;0.004;0.003	T	0.48625	-0.9019	10	0.54805	T	0.06	.	15.6109	0.76716	0.0:0.9236:0.0:0.0764	.	835;2537;2537	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	F	2537;835	ENSP00000377862:S2537F;ENSP00000335169:S835F	ENSP00000335169:S835F	S	+	2	0	FAT4	126589231	0.998000	0.40836	0.266000	0.24541	0.737000	0.42083	4.756000	0.62205	2.716000	0.92895	0.650000	0.86243	TCT		0.438	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		18	45	0	0	0	0.00499	0	18	45		
FAT4	79633	broad.mit.edu	37	4	126411829	126411829	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:126411829G>T	ENST00000394329.3	+	17	13865	c.13852G>T	c.(13852-13854)Gag>Tag	p.E4618*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.E2859*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4618					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCAGGAGATAGAGCACTATGA	0.478																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(13852-13854)GAG>TAG		FAT tumor suppressor homolog 4 precursor							76.0	78.0	78.0					4																	126411829		2203	4300	6503	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411829G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13852G>T	4.37:g.126411829G>T	ENSP00000377862:p.Glu4618*					FAT4_uc011cgp.1_Nonsense_Mutation_p.E2859*|FAT4_uc003ifi.1_Nonsense_Mutation_p.E2095*	p.E4618*	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			17	13852	+			4618			Cytoplasmic (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.13852G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	54	22.969400	0.99952	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	4.95	4.95	0.65309	.	0.000000	0.34628	U	0.003808	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	17.186	0.86867	0.0:0.0:1.0:0.0	.	.	.	.	X	4618;2859	.	ENSP00000335169:E2859X	E	+	1	0	FAT4	126631279	1.000000	0.71417	0.987000	0.45799	0.986000	0.74619	9.440000	0.97547	2.275000	0.75901	0.561000	0.74099	GAG		0.478	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		18	37	1	0	1.37522e-17	0.007413	1.48451e-17	18	37		
OTUD4	54726	broad.mit.edu	37	4	146067508	146067508	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:146067508C>T	ENST00000447906.2	-	14	1520	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	OTUD4_ENST00000454497.2_Missense_Mutation_p.E380K|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	445					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTGCGCTCTTCTGGGGAAAGG	0.413																																						uc003ika.3		NaN																	0				ovary(2)|breast(1)	3						c.(1138-1140)GAA>AAA		OTU domain containing 4 protein isoform 3							134.0	137.0	136.0					4																	146067508		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146067508C>T		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1333G>A	4.37:g.146067508C>T	ENSP00000395487:p.Glu445Lys					OTUD4_uc003ijz.3_Missense_Mutation_p.E379K	p.E380K	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN			14	1276	-	all_hematologic(180;0.151)		444					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.1138G>A		.	.	.	.	.	.	.	.	.	.	C	21.4	4.150698	0.78001	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.39229	1.09;1.09	5.85	5.0	0.66597	.	0.000000	0.64402	D	0.000001	T	0.33933	0.0880	L	0.41236	1.265	0.80722	D	1	P;P	0.41450	0.75;0.635	B;B	0.36092	0.217;0.108	T	0.18209	-1.0344	10	0.49607	T	0.09	-20.4215	14.3834	0.66926	0.0:0.9297:0.0:0.0703	.	445;444	G3V0I6;Q01804	.;OTUD4_HUMAN	K	380;445	ENSP00000409279:E380K;ENSP00000395487:E445K	ENSP00000395487:E445K	E	-	1	0	OTUD4	146286958	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	3.542000	0.53625	2.773000	0.95371	0.655000	0.94253	GAA		0.413	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2		NM_017493		7	123	0	0	0	0.00308	0	7	123		
PALLD	23022	broad.mit.edu	37	4	169602510	169602510	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:169602510A>C	ENST00000505667.1	+	4	1288	c.1115A>C	c.(1114-1116)gAa>gCa	p.E372A	PALLD_ENST00000512127.1_5'UTR|PALLD_ENST00000261509.6_Missense_Mutation_p.E372A|PALLD_ENST00000333488.4_Missense_Mutation_p.E249A|PALLD_ENST00000335742.7_5'UTR			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	372					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TCTGACAGTGAAAGTTTAGCT	0.358									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	uc011cjx.1		NaN																	0				ovary(1)	1						c.(1114-1116)GAA>GCA		palladin isoform 2							94.0	92.0	93.0					4																	169602510		2203	4300	6503	SO:0001583	missense	23022	Pancreatic_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169602510A>C	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1115A>C	4.37:g.169602510A>C	ENSP00000425556:p.Glu372Ala					PALLD_uc003iru.2_Missense_Mutation_p.E372A|PALLD_uc003irv.2_5'UTR	p.E372A	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	4	1326	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	372					B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.1115A>C	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.585913	0.86748	.	.	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	T;T;T;T	0.68181	-0.19;0.07;-0.31;-0.13	5.72	5.72	0.89469	.	.	.	.	.	T	0.81163	0.4765	M	0.73598	2.24	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.81914	0.989;0.995	T	0.81158	-0.1060	9	0.41790	T	0.15	.	15.9984	0.80268	1.0:0.0:0.0:0.0	.	372;372	B7ZMM5;B2RTX2	.;.	A	372;372;351;249	ENSP00000261509:E372A;ENSP00000425556:E372A;ENSP00000423063:E351A;ENSP00000328945:E249A	ENSP00000261509:E372A	E	+	2	0	PALLD	169839085	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.847000	0.86896	2.179000	0.69175	0.374000	0.22700	GAA		0.358	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1		NM_016081		5	69	0	0	0	0.014758	0	5	69		
ADCY2	108	broad.mit.edu	37	5	7521004	7521004	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:7521004G>T	ENST00000338316.4	+	3	651	c.562G>T	c.(562-564)Gtc>Ttc	p.V188F		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	188				VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGAGCACCTGGTCTGGCAGGT	0.607																																						uc003jdz.1		NaN																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(562-564)GTC>TTC		adenylate cyclase 2							148.0	102.0	118.0					5																	7521004		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7521004G>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.562G>T	5.37:g.7521004G>T	ENSP00000342952:p.Val188Phe						p.V188F	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			3	629	+			188	VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285).		Helical; (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.562G>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	9.967	1.224360	0.22457	.	.	ENSG00000078295	ENST00000338316;ENST00000541993	T	0.77098	-1.07	5.65	2.84	0.33178	.	0.209135	0.40640	N	0.001058	T	0.65238	0.2672	L	0.49126	1.545	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	T	0.51624	-0.8682	10	0.12430	T	0.62	.	5.7131	0.17945	0.1614:0.0:0.6762:0.1624	.	188	Q08462	ADCY2_HUMAN	F	188;39	ENSP00000342952:V188F	ENSP00000342952:V188F	V	+	1	0	ADCY2	7574004	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.770000	0.47662	0.696000	0.31696	0.650000	0.86243	GTC		0.607	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2		NM_020546		49	75	1	0	2.74695e-27	0.01441	3.05634e-27	49	75		
SLC45A2	51151	broad.mit.edu	37	5	33964006	33964006	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:33964006G>A	ENST00000296589.4	-	3	824	c.678C>T	c.(676-678)ctC>ctT	p.L226L	SLC45A2_ENST00000342059.3_Silent_p.L167L|SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000382102.3_Silent_p.L226L	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	226					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.L226L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						AACACAAAGTGAGCACCAATG	0.502																																					Ovarian(31;380 859 8490 22203 49048)	uc003jid.2		NaN																	1	Substitution - coding silent(1)	p.L226L(1)	ovary(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(676-678)CTC>CTT		membrane-associated transporter protein isoform							115.0	114.0	114.0					5																	33964006		2203	4300	6503	SO:0001819	synonymous_variant	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33964006G>A	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.678C>T	5.37:g.33964006G>A						SLC45A2_uc003jie.2_Silent_p.L226L|SLC45A2_uc003jif.3_Intron|SLC45A2_uc011coe.1_Intron	p.L226L	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN			3	770	-			226			Helical; Name=6; (Potential).		Q6P2P0|Q9BTM3	Silent	SNP	ENST00000296589.4	37	c.678C>T	CCDS3901.1																																																																																				0.502	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2		NM_016180		21	107	0	0	0	0.008871	0	21	107		
SNX18	112574	broad.mit.edu	37	5	53839070	53839070	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:53839070G>A	ENST00000381410.4	+	2	1873	c.1683G>A	c.(1681-1683)caG>caA	p.Q561Q	SNX18_ENST00000343017.6_3'UTR	NM_001102575.1	NP_001096045.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	0	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				TGGAGGTGCAGAAGGCTGACG	0.408																																						uc003jpi.3		NaN																	0					0						c.(1681-1683)CAG>CAA		sorting nexin 18 isoform a							105.0	107.0	106.0					5																	53839070		1969	4137	6106	SO:0001819	synonymous_variant	112574				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53839070G>A	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000381410.4:c.1683G>A	5.37:g.53839070G>A						SNX18_uc011cqg.1_3'UTR	p.Q561Q	NM_001102575	NP_001096045	Q96RF0	SNX18_HUMAN			2	1873	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	Error:Variant_position_missing_in_Q96RF0_after_alignment					B4E2B3|H7BXX3|Q05BB3|Q0VG02	Silent	SNP	ENST00000381410.4	37	c.1683G>A	CCDS43317.1																																																																																				0.408	SNX18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214073.2				29	64	0	0	0	0.008361	0	29	64		
TMEM171	134285	broad.mit.edu	37	5	72419557	72419557	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:72419557C>T	ENST00000454765.2	+	2	830	c.357C>T	c.(355-357)ttC>ttT	p.F119F	TMEM171_ENST00000287773.5_Silent_p.F119F			Q8WVE6	TM171_HUMAN	transmembrane protein 171	119						integral component of membrane (GO:0016021)				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		GGTTTCTGTTCTTGACAAGCG	0.587																																					NSCLC(112;638 2280 27369 30736)	uc003kcm.2		NaN																	0					0						c.(355-357)TTC>TTT		transmembrane protein 171 isoform 1							118.0	121.0	120.0					5																	72419557		2203	4300	6503	SO:0001819	synonymous_variant	134285					integral to membrane		g.chr5:72419557C>T	BC018083	CCDS4017.1, CCDS54869.1	5q13.2	2008-02-05			ENSG00000157111	ENSG00000157111			27031	protein-coding gene	gene with protein product						12477932	Standard	NM_173490		Approved	PRP2	uc003kcm.2	Q8WVE6	OTTHUMG00000131269	ENST00000454765.2:c.357C>T	5.37:g.72419557C>T						TMEM171_uc003kcn.3_Silent_p.F119F	p.F119F	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)	2	561	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	119			Helical; (Potential).		Q8N0S1|Q8TDT7	Silent	SNP	ENST00000454765.2	37	c.357C>T	CCDS4017.1																																																																																				0.587	TMEM171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254037.2		NM_173490		28	71	0	0	0	0.008361	0	28	71		
HOMER1	9456	broad.mit.edu	37	5	78671855	78671855	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:78671855C>T	ENST00000334082.6	-	9	2484	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T	HOMER1_ENST00000535690.1_Missense_Mutation_p.A174T|HOMER1_ENST00000282260.6_Missense_Mutation_p.A218T|HOMER1_ENST00000508576.1_3'UTR	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	348					behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		AGTAGCTTGGCCAAGTTATCT	0.363																																						uc003kfy.2		NaN																	0					0						c.(1042-1044)GCC>ACC		homer 1							89.0	83.0	85.0					5																	78671855		1839	4076	5915	SO:0001583	missense	9456				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		g.chr5:78671855C>T	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.1042G>A	5.37:g.78671855C>T	ENSP00000334382:p.Ala348Thr					HOMER1_uc010jab.2_3'UTR|HOMER1_uc010jac.2_Missense_Mutation_p.A218T|HOMER1_uc010jad.2_Missense_Mutation_p.A174T	p.A348T	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	9	2145	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)	348			Potential.		B2R688|O96003|Q86YM5	Missense_Mutation	SNP	ENST00000334082.6	37	c.1042G>A	CCDS43335.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202596	0.79127	.	.	ENSG00000152413	ENST00000334082;ENST00000282260;ENST00000535690	T;T;T	0.35789	2.07;1.29;1.7	5.7	5.7	0.88788	.	0.097704	0.64402	D	0.000001	T	0.49201	0.1543	L	0.50333	1.59	0.80722	D	1	P;P;P	0.48162	0.906;0.728;0.773	P;B;B	0.51701	0.677;0.199;0.271	T	0.46498	-0.9187	10	0.72032	D	0.01	-13.5026	19.8254	0.96616	0.0:1.0:0.0:0.0	.	174;218;348	Q86YM6;Q86YM7-2;Q86YM7	.;.;HOME1_HUMAN	T	348;218;174	ENSP00000334382:A348T;ENSP00000282260:A218T;ENSP00000441587:A174T	ENSP00000282260:A218T	A	-	1	0	HOMER1	78707611	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.459000	0.80802	2.665000	0.90641	0.591000	0.81541	GCC		0.363	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1		NM_004272		13	49	0	0	0	0.013537	0	13	49		
TRIM36	55521	broad.mit.edu	37	5	114466549	114466549	+	Silent	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:114466549A>G	ENST00000282369.3	-	9	1693	c.1572T>C	c.(1570-1572)aaT>aaC	p.N524N	TRIM36_ENST00000513154.1_Silent_p.N512N|TRIM36_ENST00000514154.1_Silent_p.N369N	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	524	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GGTGTTCATTATTATAGCCAC	0.368																																						uc003kqs.2		NaN																	0				ovary(4)|lung(2)|breast(2)	8						c.(1570-1572)AAT>AAC		tripartite motif-containing 36 isoform 1							79.0	80.0	79.0					5																	114466549		2202	4300	6502	SO:0001819	synonymous_variant	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114466549A>G	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1572T>C	5.37:g.114466549A>G						TRIM36_uc011cwc.1_Silent_p.N512N|TRIM36_uc003kqt.2_Silent_p.N369N	p.N524N	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	9	2081	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	524			B30.2/SPRY.		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Silent	SNP	ENST00000282369.3	37	c.1572T>C	CCDS4115.1																																																																																				0.368	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2		NM_018700		31	59	0	0	0	0.010818	0	31	59		
SLC27A6	28965	broad.mit.edu	37	5	128320834	128320834	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:128320834G>C	ENST00000262462.4	+	2	1500	c.490G>C	c.(490-492)Gga>Cga	p.G164R	SLC27A6_ENST00000395266.1_Missense_Mutation_p.G164R|SLC27A6_ENST00000506176.1_Missense_Mutation_p.G164R			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	164					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGATTTGCTTGGAACGGTAGA	0.373																																						uc003kuy.2		NaN																	0					0						c.(490-492)GGA>CGA		solute carrier family 27 (fatty acid							40.0	43.0	42.0					5																	128320834		2203	4300	6503	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128320834G>C	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.490G>C	5.37:g.128320834G>C	ENSP00000262462:p.Gly164Arg					SLC27A6_uc003kuz.2_Missense_Mutation_p.G164R	p.G164R	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	3	886	+		all_cancers(142;0.0483)|Prostate(80;0.055)	164					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.490G>C	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	7.052	0.564738	0.13498	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.50277	0.75;0.75;0.75	4.34	3.48	0.39840	AMP-dependent synthetase/ligase (1);	0.401465	0.30428	N	0.009656	T	0.50051	0.1593	L	0.61218	1.895	0.39395	D	0.966491	B	0.27416	0.178	B	0.36335	0.222	T	0.57894	-0.7732	10	0.56958	D	0.05	-8.8389	13.4067	0.60917	0.0776:0.0:0.9224:0.0	.	164	Q9Y2P4	S27A6_HUMAN	R	164	ENSP00000262462:G164R;ENSP00000378684:G164R;ENSP00000421024:G164R	ENSP00000262462:G164R	G	+	1	0	SLC27A6	128348733	1.000000	0.71417	0.887000	0.34795	0.183000	0.23260	4.334000	0.59291	1.437000	0.47472	0.650000	0.86243	GGA		0.373	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1		NM_014031		10	21	0	0	0	0.008291	0	10	21		
H2AFY	9555	broad.mit.edu	37	5	134679035	134679035	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:134679035G>C	ENST00000511689.1	-	8	1461	c.868C>G	c.(868-870)Ctg>Gtg	p.L290V	H2AFY_ENST00000423969.2_Missense_Mutation_p.L118V|H2AFY_ENST00000512507.1_5'UTR|H2AFY_ENST00000510038.1_Missense_Mutation_p.L290V|CTC-349C3.1_ENST00000432382.3_Missense_Mutation_p.R106T|H2AFY_ENST00000304332.4_Missense_Mutation_p.L289V|H2AFY_ENST00000312469.4_Missense_Mutation_p.L287V	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	290	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTCTTTTCCAGAAGTTCTTCA	0.522																																						uc003lam.1		NaN																	0					0						c.(868-870)CTG>GTG		H2A histone family, member Y isoform 3							147.0	142.0	144.0					5																	134679035		2203	4300	6503	SO:0001583	missense	9555				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr5:134679035G>C	AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"""Histones / Replication-independent"""	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.868C>G	5.37:g.134679035G>C	ENSP00000423563:p.Leu290Val					uc003laj.1_RNA|H2AFY_uc003lal.1_RNA|H2AFY_uc003lao.1_Missense_Mutation_p.L289V|H2AFY_uc003lan.1_Missense_Mutation_p.L287V|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Missense_Mutation_p.L118V|H2AFY_uc003las.1_Missense_Mutation_p.L290V|H2AFY_uc003lat.1_Missense_Mutation_p.L289V	p.L290V	NM_138610	NP_613258	O75367	H2AY_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		8	1078	-			290			Macro.		O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Missense_Mutation	SNP	ENST00000511689.1	37	c.868C>G	CCDS4185.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.305682|4.305682	0.81247|0.81247	.|.	.|.	ENSG00000113648|ENSG00000224186	ENST00000511689;ENST00000304332;ENST00000312469;ENST00000423969;ENST00000510038|ENST00000432382	T;T;T;T;T|.	0.34667|.	1.35;1.35;1.35;1.35;1.35|.	5.75|5.75	5.75|5.75	0.90469|0.90469	Appr-1-p processing (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81950|0.81950	0.4931|0.4931	M|M	0.91459|0.91459	3.21|3.21	0.80722|0.80722	D|D	1|1	D;P;P;P|.	0.62365|.	0.991;0.937;0.909;0.949|.	D;P;P;P|.	0.64877|.	0.93;0.552;0.896;0.681|.	D|D	0.85557|0.85557	0.1225|0.1225	10|6	0.87932|0.87932	D|D	0|0	.|.	14.1361|14.1361	0.65289|0.65289	0.0714:0.0:0.9286:0.0|0.0714:0.0:0.9286:0.0	.|.	118;289;287;290|.	B4DJC3;O75367-3;O75367-2;O75367|.	.;.;.;H2AY_HUMAN|.	V|T	290;289;287;118;290|106	ENSP00000423563:L290V;ENSP00000302572:L289V;ENSP00000310169:L287V;ENSP00000415121:L118V;ENSP00000424971:L290V|.	ENSP00000302572:L289V|ENSP00000402151:R106T	L|R	-|+	1|2	2|0	H2AFY|CTC-203F4.1	134706934|134706934	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.723000|6.723000	0.74742|0.74742	2.714000|2.714000	0.92807|0.92807	0.561000|0.561000	0.74099|0.74099	CTG|AGA		0.522	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3		NM_004893		44	122	0	0	0	0.00874	0	44	122		
LECT2	3950	broad.mit.edu	37	5	135283149	135283149	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:135283149C>G	ENST00000274507.1	-	4	527	c.327G>C	c.(325-327)aaG>aaC	p.K109N	LECT2_ENST00000522943.1_Intron|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000471827.1_Intron|LECT2_ENST00000512872.1_Missense_Mutation_p.K37N	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	109					chemotaxis (GO:0006935)|negative regulation of Wnt signaling pathway (GO:0030178)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	identical protein binding (GO:0042802)			large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GACCTTTATACTTAATTGGCT	0.318																																						uc003lbe.1		NaN																	0				ovary(1)	1						c.(325-327)AAG>AAC		leukocyte cell-derived chemotaxin 2 precursor							106.0	96.0	99.0					5																	135283149		2203	4300	6503	SO:0001583	missense	3950				chemotaxis|skeletal system development	cytoplasm|extracellular space		g.chr5:135283149C>G	AB007546	CCDS4190.1	5q31.1	2008-05-15			ENSG00000145826	ENSG00000145826			6550	protein-coding gene	gene with protein product		602882				9545637	Standard	NM_002302		Approved	chm-II, chm2	uc003lbe.1	O14960	OTTHUMG00000129146	ENST00000274507.1:c.327G>C	5.37:g.135283149C>G	ENSP00000274507:p.Lys109Asn					FBXL21_uc003lbc.2_Intron	p.K109N	NM_002302	NP_002293	O14960	LECT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		4	528	-			109					B2RA90|O14565|Q52M49	Missense_Mutation	SNP	ENST00000274507.1	37	c.327G>C	CCDS4190.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604939	0.46423	.	.	ENSG00000145826	ENST00000274507;ENST00000512872	T;T	0.51325	0.71;2.91	5.66	-0.243	0.13035	Peptidase M23 (1);	0.172748	0.47852	D	0.000201	T	0.37865	0.1019	L	0.55481	1.735	0.53005	D	0.999965	P	0.39717	0.684	B	0.41036	0.346	T	0.07233	-1.0783	10	0.30854	T	0.27	-11.4115	5.8538	0.18708	0.1288:0.4448:0.0:0.4265	.	109	O14960	LECT2_HUMAN	N	109;37	ENSP00000274507:K109N;ENSP00000427012:K37N	ENSP00000274507:K109N	K	-	3	2	LECT2	135311048	0.000000	0.05858	0.993000	0.49108	0.928000	0.56348	-0.959000	0.03853	0.002000	0.14630	0.655000	0.94253	AAG		0.318	LECT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251209.1		NM_002302		34	45	0	0	0	0.012213	0	34	45		
PCDHB8	56128	broad.mit.edu	37	5	140559901	140559901	+	Silent	SNP	G	G	A	rs371278694		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:140559901G>A	ENST00000239444.2	+	1	2531	c.2286G>A	c.(2284-2286)acG>acA	p.T762T	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	762					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCAGGGACGAATGAGTTCC	0.517																																						uc011dai.1		NaN																	0				skin(4)	4						c.(2284-2286)ACG>ACA		protocadherin beta 8 precursor		G		0,4406		0,0,2203	101.0	104.0	103.0		2286	-2.1	0.0	5		103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PCDHB8	NM_019120.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		762/802	140559901	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559901G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.2286G>A	5.37:g.140559901G>A						PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	p.T762T	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2472	+			762			Cytoplasmic (Potential).		B9EGV1	Silent	SNP	ENST00000239444.2	37	c.2286G>A	CCDS4250.1																																																																																				0.517	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2		NM_019120		30	59	0	0	0	0.008361	0	30	59		
PDGFRB	5159	broad.mit.edu	37	5	149505034	149505034	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:149505034T>C	ENST00000261799.4	-	12	2250	c.1781A>G	c.(1780-1782)gAg>gGg	p.E594G		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	594					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCGCGGCAGCTCCCACGTGGA	0.592			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	uc003lro.2		NaN		Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		0				central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(1780-1782)GAG>GGG		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						75.0	65.0	68.0					5																	149505034		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149505034T>C	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1781A>G	5.37:g.149505034T>C	ENSP00000261799:p.Glu594Gly					PDGFRB_uc010jhd.2_Missense_Mutation_p.E433G	p.E594G	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		12	2250	-		all_hematologic(541;0.224)	594			Cytoplasmic (Potential).		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.1781A>G	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.725919	0.89298	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.95171	-3.63	4.58	4.58	0.56647	Protein kinase-like domain (1);	0.000000	0.56097	D	0.000030	D	0.97408	0.9152	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.976	D	0.98254	1.0495	10	0.87932	D	0	.	14.4046	0.67073	0.0:0.0:0.0:1.0	.	594;594	A8KAM8;P09619	.;PGFRB_HUMAN	G	594;264	ENSP00000261799:E594G	ENSP00000261799:E594G	E	-	2	0	PDGFRB	149485227	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.868000	0.87116	2.053000	0.61076	0.454000	0.30748	GAG		0.592	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1		NM_002609		12	11	0	0	0	0.003163	0	12	11		
SH3PXD2B	285590	broad.mit.edu	37	5	171766782	171766782	+	Missense_Mutation	SNP	C	C	T	rs138949033		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:171766782C>T	ENST00000311601.5	-	13	1497	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	443					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGGTCACCTCGTGGGGCAGG	0.647																																						uc003mbr.2		NaN																	0				ovary(3)|skin(1)	4						c.(1327-1329)GAG>AAG		SH3 and PX domains 2B		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	50.0	56.0	54.0		1327	5.8	1.0	5	dbSNP_134	54	0,8600		0,0,4300	no	missense	SH3PXD2B	NM_001017995.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	443/912	171766782	1,13005	2203	4300	6503	SO:0001583	missense	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171766782C>T	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.1327G>A	5.37:g.171766782C>T	ENSP00000309714:p.Glu443Lys						p.E443K	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		13	1498	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	443					B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	c.1327G>A	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711492	0.68730	2.27E-4	0.0	ENSG00000174705	ENST00000311601	T	0.28666	1.6	5.82	5.82	0.92795	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.51312	0.1667	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	T	0.36672	-0.9738	9	.	.	.	-40.2749	17.579	0.87960	0.0:1.0:0.0:0.0	.	443	A1X283	SPD2B_HUMAN	K	443	ENSP00000309714:E443K	.	E	-	1	0	SH3PXD2B	171699387	1.000000	0.71417	0.961000	0.40146	0.195000	0.23768	4.920000	0.63390	2.756000	0.94617	0.561000	0.74099	GAG		0.647	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1		NM_017963		16	18	0	0	0	0.00499	0	16	18		
STC2	8614	broad.mit.edu	37	5	172750298	172750298	+	Missense_Mutation	SNP	C	C	T	rs372362093		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:172750298C>T	ENST00000265087.4	-	3	1739	c.430G>A	c.(430-432)Gac>Aac	p.D144N	STC2_ENST00000520593.1_5'UTR	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	144					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCGCACAGGTCGTGCTTGAGG	0.622																																						uc003mco.1		NaN																	0				skin(2)|ovary(1)	3						c.(430-432)GAC>AAC		stanniocalcin 2 precursor							74.0	62.0	66.0					5																	172750298		2203	4300	6503	SO:0001583	missense	8614				cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity	g.chr5:172750298C>T	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.430G>A	5.37:g.172750298C>T	ENSP00000265087:p.Asp144Asn					STC2_uc003mcn.1_Missense_Mutation_p.D59N	p.D144N	NM_003714	NP_003705	O76061	STC2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		3	1740	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	144						Missense_Mutation	SNP	ENST00000265087.4	37	c.430G>A	CCDS4388.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.38|11.38	1.622570|1.622570	0.28889|0.28889	.|.	.|.	ENSG00000113739|ENSG00000113739	ENST00000265087|ENST00000520648	.|.	.|.	.|.	5.44|5.44	3.32|3.32	0.38043|0.38043	.|.	0.207567|.	0.50627|.	D|.	0.000110|.	T|T	0.37073|0.37073	0.0990|0.0990	N|N	0.11341|0.11341	0.13|0.13	0.35723|0.35723	D|D	0.817339|0.817339	B|.	0.15930|.	0.015|.	B|.	0.12156|.	0.007|.	T|T	0.43393|0.43393	-0.9394|-0.9394	9|5	0.09590|.	T|.	0.72|.	-18.8186|-18.8186	13.045|13.045	0.58920|0.58920	0.0:0.8457:0.0:0.1543|0.0:0.8457:0.0:0.1543	.|.	144|.	O76061|.	STC2_HUMAN|.	N|Q	144|97	.|.	ENSP00000265087:D144N|.	D|R	-|-	1|2	0|0	STC2|STC2	172682904|172682904	1.000000|1.000000	0.71417|0.71417	0.681000|0.681000	0.30009|0.30009	0.980000|0.980000	0.70556|0.70556	1.293000|1.293000	0.33353|0.33353	1.294000|1.294000	0.44707|0.44707	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.622	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1		NM_003714		17	24	0	0	0	0.006122	0	17	24		
CDYL	9425	broad.mit.edu	37	6	4937844	4937844	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:4937844G>A	ENST00000328908.5	+	6	1287	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N	CDYL_ENST00000343762.5_Missense_Mutation_p.D200N|CDYL_ENST00000397588.3_Missense_Mutation_p.D332N|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000449732.2_Missense_Mutation_p.D200N			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	386					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CGCTGCCGATGACAGCAAGCT	0.448																																						uc003mwi.2		NaN																	0					0						c.(1156-1158)GAC>AAC		chromodomain protein, Y chromosome-like isoform							73.0	71.0	71.0					6																	4937844		2203	4300	6503	SO:0001583	missense	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4937844G>A	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1156G>A	6.37:g.4937844G>A	ENSP00000330512:p.Asp386Asn					CDYL_uc003mwj.2_Missense_Mutation_p.D332N|CDYL_uc003mwk.2_Missense_Mutation_p.D97N|CDYL_uc011dhx.1_Missense_Mutation_p.D200N|CDYL_uc011dhy.1_Missense_Mutation_p.D200N	p.D386N	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	6	1287	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	386					A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	ENST00000328908.5	37	c.1156G>A		.	.	.	.	.	.	.	.	.	.	G	22.7	4.326044	0.81580	.	.	ENSG00000153046	ENST00000328908;ENST00000440139;ENST00000397588;ENST00000449732;ENST00000343762	T;T;T;T;T	0.67865	0.84;-0.29;0.84;0.84;0.84	5.67	5.67	0.87782	Crotonase, core (1);	0.000000	0.85682	D	0.000000	T	0.68522	0.3010	L	0.59967	1.855	0.80722	D	1	P;P	0.51791	0.836;0.948	B;P	0.51657	0.336;0.676	T	0.69847	-0.5034	10	0.56958	D	0.05	.	19.1082	0.93305	0.0:0.0:1.0:0.0	.	332;386	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	N	386;112;332;200;200	ENSP00000330512:D386N;ENSP00000394740:D112N;ENSP00000380718:D332N;ENSP00000394076:D200N;ENSP00000340908:D200N	ENSP00000330512:D386N	D	+	1	0	CDYL	4882843	1.000000	0.71417	1.000000	0.80357	0.178000	0.23041	9.585000	0.98223	2.832000	0.97577	0.585000	0.79938	GAC		0.448	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1		NM_004824		10	26	0	0	0	0.010729	0	10	26		
KDM1B	221656	broad.mit.edu	37	6	18212790	18212790	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:18212790G>A	ENST00000297792.5	+	14	1419	c.1242G>A	c.(1240-1242)aaG>aaA	p.K414K	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Silent_p.K415K|KDM1B_ENST00000388870.2_Silent_p.K647K			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	646					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TGTCAGAGAAGAAGATGAAGG	0.398																																						uc003nco.1		NaN																	0				skin(1)	1						c.(1327-1329)AAG>AAA		amine oxidase (flavin containing) domain 1							198.0	177.0	184.0					6																	18212790		2203	4300	6503	SO:0001819	synonymous_variant	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18212790G>A	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1242G>A	6.37:g.18212790G>A						KDM1B_uc003ncn.1_Silent_p.K414K|KDM1B_uc003ncp.1_5'UTR|KDM1B_uc003ncq.1_5'UTR	p.K443K	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN			11	1404	+			646					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Silent	SNP	ENST00000297792.5	37	c.1329G>A	CCDS34343.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250521	0.22880	.	.	ENSG00000165097	ENST00000449850	.	.	.	5.79	4.0	0.46444	.	.	.	.	.	T	0.45236	0.1332	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41752	-0.9491	4	.	.	.	-5.8039	8.8746	0.35337	0.3017:0.0:0.6983:0.0	.	.	.	.	K	464	.	.	R	+	2	0	KDM1B	18320769	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.868000	0.39509	0.782000	0.33613	0.650000	0.86243	AGA		0.398	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1		NM_153042		113	683	0	0	0	0.01441	0	113	683		
HIST1H1B	3009	broad.mit.edu	37	6	27834978	27834978	+	Silent	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:27834978G>C	ENST00000331442.3	-	1	381	c.330C>G	c.(328-330)ctC>ctG	p.L110L		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	110	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CCTTCTTGTTGAGTTTAAAGG	0.587																																						uc003njx.2		NaN																	0				large_intestine(2)|lung(1)	3						c.(328-330)CTC>CTG		histone cluster 1, H1b							102.0	116.0	111.0					6																	27834978		2203	4300	6503	SO:0001819	synonymous_variant	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27834978G>C	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.330C>G	6.37:g.27834978G>C							p.L110L	NM_005322	NP_005313	P16401	H15_HUMAN			1	382	-			110			H15.		Q14529|Q3MJ42	Silent	SNP	ENST00000331442.3	37	c.330C>G	CCDS4635.1																																																																																				0.587	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1		NM_005322		49	187	0	0	0	0.01441	0	49	187		
TRIM27	5987	broad.mit.edu	37	6	28889686	28889686	+	Missense_Mutation	SNP	C	C	T	rs112674133		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:28889686C>T	ENST00000377199.3	-	2	855	c.499G>A	c.(499-501)Gca>Aca	p.A167T	TRIM27_ENST00000498117.1_5'UTR|TRIM27_ENST00000377194.3_Missense_Mutation_p.A167T	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	167					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCAGCTCGTGCCTGTTCCCCC	0.468			T	RET	papillary thyroid																																	uc003nlr.2		NaN		Dom	yes		6	6p22	5987	T	tripartite motif-containing 27			E	RET		papillary thyroid		0				ovary(1)	1						c.(499-501)GCA>ACA		ret finger protein							178.0	187.0	184.0					6																	28889686		1511	2709	4220	SO:0001583	missense	5987				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding	g.chr6:28889686C>T	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.499G>A	6.37:g.28889686C>T	ENSP00000366404:p.Ala167Thr					TRIM27_uc003nls.2_Missense_Mutation_p.A167T|TRIM27_uc003nlt.1_Missense_Mutation_p.A167T	p.A167T	NM_006510	NP_006501	P14373	TRI27_HUMAN			2	858	-			167			Potential.		A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	ENST00000377199.3	37	c.499G>A	CCDS4654.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296308	0.40594	.	.	ENSG00000204713	ENST00000377199;ENST00000377194	T;T	0.62232	0.57;0.04	3.4	3.4	0.38934	.	0.000000	0.41500	D	0.000869	T	0.20536	0.0494	N	0.04355	-0.22	0.30189	N	0.799654	B;B;B	0.23806	0.091;0.017;0.073	B;B;B	0.20184	0.028;0.014;0.018	T	0.11348	-1.0591	10	0.45353	T	0.12	.	10.6193	0.45470	0.0:1.0:0.0:0.0	.	234;167;167	Q59EC6;P14373-2;P14373	.;.;TRI27_HUMAN	T	167	ENSP00000366404:A167T;ENSP00000366399:A167T	ENSP00000366399:A167T	A	-	1	0	TRIM27	28997665	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.582000	0.36568	2.200000	0.70718	0.655000	0.94253	GCA		0.468	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076442.2		NM_030950		35	166	0	0	0	0.005524	0	35	166		
MDC1	9656	broad.mit.edu	37	6	30672275	30672275	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:30672275C>T	ENST00000376406.3	-	10	5332	c.4685G>A	c.(4684-4686)aGg>aAg	p.R1562K	MDC1_ENST00000376405.2_Missense_Mutation_p.R1298K|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1562	Interaction with the PRKDC complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GACAGAGGACCTATTTGTCCT	0.592								Other conserved DNA damage response genes																														uc003nrg.3		NaN																	0				breast(2)|ovary(1)|kidney(1)	4						c.(4684-4686)AGG>AAG	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							126.0	141.0	136.0					6																	30672275		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30672275C>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4685G>A	6.37:g.30672275C>T	ENSP00000365588:p.Arg1562Lys					MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.R1169K	p.R1562K	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	5125	-			1562			Interaction with the PRKDC complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.4685G>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.511884	0.27036	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.14516	2.5;2.5	3.99	3.99	0.46301	.	.	.	.	.	T	0.04815	0.0130	L	0.58810	1.83	0.09310	N	1	B;B	0.22909	0.066;0.077	B;B	0.25140	0.058;0.008	T	0.43589	-0.9382	9	0.05620	T	0.96	-0.1155	11.9493	0.52946	0.0:1.0:0.0:0.0	.	1298;1562	Q14676-2;Q14676	.;MDC1_HUMAN	K	1562;1298;1275;1128	ENSP00000365588:R1562K;ENSP00000365587:R1298K	ENSP00000365587:R1298K	R	-	2	0	MDC1	30780254	0.001000	0.12720	0.069000	0.20011	0.729000	0.41735	0.153000	0.16323	2.529000	0.85273	0.449000	0.29647	AGG		0.592	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1		NM_014641		138	102	0	0	0	0.01441	0	138	102		
FOXP4	116113	broad.mit.edu	37	6	41533702	41533702	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:41533702G>C	ENST00000307972.4	+	1	216	c.204G>C	c.(202-204)caG>caC	p.Q68H	FOXP4_ENST00000373060.1_Splice_Site_p.Q68H|FOXP4_ENST00000373063.3_Splice_Site_p.Q68H|FOXP4_ENST00000409208.1_Splice_Site_p.Q68H|FOXP4_ENST00000373057.3_Splice_Site_p.Q68H			Q8IVH2	FOXP4_HUMAN	forkhead box P4	68	Gln-rich.				embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					AGCAGCAACAGGTAGGAACTG	0.617																																						uc003oql.2		NaN																	0				breast(1)	1						c.(202-204)CAG>CAC		forkhead box P4 isoform 1							45.0	40.0	42.0					6																	41533702		2203	4300	6503	SO:0001630	splice_region_variant	116113				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr6:41533702G>C	AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"""Forkhead boxes"""	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.204+1G>C	6.37:g.41533702G>C						FOXP4_uc003oqm.2_Missense_Mutation_p.Q68H|FOXP4_uc003oqn.2_Missense_Mutation_p.Q68H	p.Q68H	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN			2	662	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		68			Gln-rich.		Q5W098|Q7Z7F8|Q8IW55|Q96E19	Missense_Mutation	SNP	ENST00000307972.4	37	c.204G>C	CCDS34447.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701950	0.88924	.	.	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972	D;D;D;D;D	0.94457	-3.43;-3.42;-3.4;-3.38;-3.43	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.96809	0.8958	M	0.74881	2.28	0.80722	D	1	D;D;D	0.61697	0.99;0.99;0.99	D;D;D	0.72982	0.979;0.979;0.979	D	0.97186	0.9854	10	0.72032	D	0.01	.	18.7649	0.91868	0.0:0.0:1.0:0.0	.	68;68;68	Q8IW55;Q7Z7F8;Q8IVH2	.;.;FOXP4_HUMAN	H	68	ENSP00000362151:Q68H;ENSP00000362154:Q68H;ENSP00000386958:Q68H;ENSP00000362148:Q68H;ENSP00000309823:Q68H	ENSP00000309823:Q68H	Q	+	3	2	FOXP4	41641680	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.167000	0.94773	2.442000	0.82660	0.655000	0.94253	CAG		0.617	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1		NM_138457	Missense_Mutation	10	31	0	0	0	0.013537	0	10	31		
LGSN	51557	broad.mit.edu	37	6	63990752	63990752	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:63990752T>C	ENST00000370657.4	-	4	737	c.704A>G	c.(703-705)cAt>cGt	p.H235R	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	235					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGGCTGATCATGGTTATTTAA	0.388																																						uc003peh.2		NaN																	0				skin(2)	2						c.(703-705)CAT>CGT		lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)						44.0	44.0	44.0					6																	63990752		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990752T>C	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.704A>G	6.37:g.63990752T>C	ENSP00000359691:p.His235Arg					LGSN_uc003pei.2_Intron	p.H235R	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			4	738	-			235					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.704A>G	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.997602	0.35226	.	.	ENSG00000146166	ENST00000370657	D	0.84873	-1.91	5.56	5.56	0.83823	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.088007	0.85682	D	0.000000	T	0.78880	0.4353	M	0.65975	2.015	0.80722	D	1	B	0.34241	0.444	B	0.36186	0.219	T	0.79291	-0.1864	10	0.34782	T	0.22	-26.3021	14.8975	0.70654	0.0:0.0:0.0:1.0	.	235	Q5TDP6	LGSN_HUMAN	R	235	ENSP00000359691:H235R	ENSP00000359691:H235R	H	-	2	0	LGSN	64048711	1.000000	0.71417	0.863000	0.33907	0.363000	0.29612	7.698000	0.84413	2.107000	0.64212	0.528000	0.53228	CAT		0.388	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2		NM_016571		62	62	0	0	0	0.01441	0	62	62		
COL19A1	1310	broad.mit.edu	37	6	70778319	70778319	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:70778319C>T	ENST00000322773.4	+	15	1277	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F	COL19A1_ENST00000393344.1_Missense_Mutation_p.S14F	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	392	Collagen-like 3.|Triple-helical region 2 (COL2).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCATAGGGTTCCCTGGGGATA	0.408																																						uc003pfc.1		NaN																	0				ovary(2)|breast(2)	4						c.(1174-1176)TCC>TTC		alpha 1 type XIX collagen precursor							98.0	92.0	94.0					6																	70778319		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70778319C>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1175C>T	6.37:g.70778319C>T	ENSP00000316030:p.Ser392Phe					COL19A1_uc010kam.1_Missense_Mutation_p.S288F	p.S392F	NM_001858	NP_001849	Q14993	COJA1_HUMAN			15	1292	+			392			Triple-helical region 2 (COL2).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1175C>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	9.743	1.165402	0.21538	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.93859	-3.25;-3.3	5.38	4.49	0.54785	.	0.503861	0.19155	N	0.121353	D	0.83825	0.5338	L	0.52905	1.665	0.20489	N	0.999897	P	0.37500	0.597	B	0.37692	0.256	T	0.74396	-0.3679	10	0.15066	T	0.55	.	11.3284	0.49463	0.1817:0.8183:0.0:0.0	.	392	Q14993	COJA1_HUMAN	F	392;14	ENSP00000316030:S392F;ENSP00000377013:S14F	ENSP00000316030:S392F	S	+	2	0	COL19A1	70835040	0.990000	0.36364	0.031000	0.17742	0.964000	0.63967	2.910000	0.48766	1.229000	0.43630	0.591000	0.81541	TCC		0.408	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1				20	143	0	0	0	0.014323	0	20	143		
CASP8AP2	9994	broad.mit.edu	37	6	90572752	90572752	+	RNA	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:90572752A>G	ENST00000551025.1	+	0	2761									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AAACAGTAGAACTCACAAAAA	0.368																																					Colon(187;1656 2025 17045 31481 39901)	uc003pnr.2		NaN																	0				ovary(2)	2						c.(1324-1326)ACT>GCT		caspase 8 associated protein 2							126.0	122.0	124.0					6																	90572752		1854	4102	5956			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90572752A>G	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90572752A>G						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.T442A|CASP8AP2_uc011dzz.1_Missense_Mutation_p.T442A	p.T442A	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	7	1520	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	442						Missense_Mutation	SNP	ENST00000551025.1	37	c.1324A>G																																																																																					0.368	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript			NM_001137667		95	77	0	0	0	0.01441	0	95	77		
CASP8AP2	9994	broad.mit.edu	37	6	90581033	90581033	+	RNA	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:90581033G>C	ENST00000551025.1	+	0	7255									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AATTTTATTGGAGTGTCAGAA	0.338																																					Colon(187;1656 2025 17045 31481 39901)	uc003pnr.2		NaN																	0				ovary(2)	2						c.(5818-5820)GAG>CAG		caspase 8 associated protein 2							83.0	79.0	80.0					6																	90581033		1794	4072	5866			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90581033G>C	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90581033G>C						CASP8AP2_uc003pns.2_Missense_Mutation_p.E148Q|CASP8AP2_uc003pnt.2_Missense_Mutation_p.E1940Q|CASP8AP2_uc011dzz.1_Missense_Mutation_p.E1940Q	p.E1940Q	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	9	6014	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	1940			NCOA2-binding.			Missense_Mutation	SNP	ENST00000551025.1	37	c.5818G>C																																																																																					0.338	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript			NM_001137667		38	39	0	0	0	0.010771	0	38	39		
STX11	8676	broad.mit.edu	37	6	144508325	144508325	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:144508325C>T	ENST00000367568.4	+	2	744	c.561C>T	c.(559-561)gaC>gaT	p.D187D		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	187					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GTAAGTGGGACGTGTTTTCCG	0.637									Familial Hemophagocytic Lymphohistiocytosis																													uc003qks.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(559-561)GAC>GAT		syntaxin 11							51.0	58.0	55.0					6																	144508325		2203	4300	6503	SO:0001819	synonymous_variant	8676	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144508325C>T	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.561C>T	6.37:g.144508325C>T							p.D187D	NM_003764	NP_003755	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	753	+			187					E1P598|O75378|O95148|Q5TCL6	Silent	SNP	ENST00000367568.4	37	c.561C>T	CCDS5205.1																																																																																				0.637	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1				16	49	0	0	0	0.004007	0	16	49		
UTRN	7402	broad.mit.edu	37	6	144820449	144820449	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:144820449G>A	ENST00000367545.3	+	33	4650	c.4650G>A	c.(4648-4650)aaG>aaA	p.K1550K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1550	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGAAAATGAAGAAAGAGGCTG	0.478																																						uc003qkt.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(4648-4650)AAG>AAA		utrophin							100.0	85.0	90.0					6																	144820449		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144820449G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.4650G>A	6.37:g.144820449G>A							p.K1550K	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	33	4742	+		Ovarian(120;0.218)	1550			Interaction with SYNM.|Spectrin 11.		Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.4650G>A	CCDS34547.1																																																																																				0.478	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1				14	60	0	0	0	0.020292	0	14	60		
ACTB	60	broad.mit.edu	37	7	5567464	5567464	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:5567464G>A	ENST00000331789.5	-	6	1234	c.1043C>T	c.(1042-1044)tCg>tTg	p.S348L	ACTB_ENST00000464611.1_5'UTR|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	348					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGTGGACAGCGAGGCCAGGAT	0.587																																						uc003sos.3		NaN																	0					0						c.(1042-1044)TCG>TTG		beta actin							71.0	74.0	73.0					7																	5567464		2203	4300	6503	SO:0001583	missense	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5567464G>A	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.1043C>T	7.37:g.5567464G>A	ENSP00000349960:p.Ser348Leu					ACTB_uc003sor.3_Missense_Mutation_p.S226L|ACTB_uc003sot.3_Missense_Mutation_p.S348L|ACTB_uc003soq.3_Missense_Mutation_p.S226L|ACTB_uc010ksy.2_Missense_Mutation_p.S226L	p.S348L	NM_001101	NP_001092	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	5	1079	-		Ovarian(82;0.0606)	348					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.1043C>T	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657183	0.67586	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.95447	-3.71	5.55	4.66	0.58398	.	0.000000	0.53938	D	0.000041	D	0.98362	0.9456	H	0.95950	3.745	0.47183	D	0.999341	D	0.89917	1.0	D	0.97110	1.0	D	0.98880	1.0769	10	0.87932	D	0	.	13.966	0.64209	0.0744:0.0:0.9255:0.0	.	348	P60709	ACTB_HUMAN	L	348;324;320;267	ENSP00000349960:S348L	ENSP00000440549:S267L	S	-	2	0	ACTB	5533990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.659000	0.83766	2.617000	0.88574	0.650000	0.86243	TCG		0.587	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4		NM_001101		17	104	0	0	0	0.008871	0	17	104		
ZNF716	441234	broad.mit.edu	37	7	57528875	57528875	+	Silent	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:57528875T>C	ENST00000420713.1	+	4	820	c.708T>C	c.(706-708)acT>acC	p.T236T		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						GAATTCATACTGGAGAGAAAC	0.378																																						uc011kdi.1		NaN																	0				ovary(2)	2						c.(706-708)ACT>ACC		zinc finger protein 716							27.0	25.0	26.0					7																	57528875		692	1591	2283	SO:0001819	synonymous_variant	441234							g.chr7:57528875T>C	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.708T>C	7.37:g.57528875T>C							p.T236T	NM_001159279	NP_001152751					4	820	+									Silent	SNP	ENST00000420713.1	37	c.708T>C	CCDS55112.1																																																																																				0.378	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1		NM_001159279		5	28	0	0	0	0.014758	0	5	28		
SEMA3D	223117	broad.mit.edu	37	7	84671572	84671572	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:84671572T>C	ENST00000284136.6	-	8	934	c.891A>G	c.(889-891)atA>atG	p.I297M	SEMA3D_ENST00000484038.1_5'Flank	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	297	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCCACTTGTTTATCAGGCTGC	0.378																																					Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2		NaN																	0				ovary(3)|large_intestine(2)	5						c.(889-891)ATA>ATG		semaphorin 3D precursor							295.0	268.0	277.0					7																	84671572		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84671572T>C	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.891A>G	7.37:g.84671572T>C	ENSP00000284136:p.Ile297Met					SEMA3D_uc010led.2_Missense_Mutation_p.I297M|SEMA3D_uc003uib.2_5'Flank	p.I297M	NM_152754	NP_689967	O95025	SEM3D_HUMAN			8	931	-			297			Sema.		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.891A>G	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	T	18.19	3.568780	0.65765	.	.	ENSG00000153993	ENST00000284136	T	0.10573	2.86	5.7	3.21	0.36854	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.083854	0.85682	D	0.000000	T	0.22437	0.0541	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.00312	-1.1826	10	0.87932	D	0	.	8.8927	0.35444	0.1259:0.0:0.1321:0.742	.	297	O95025	SEM3D_HUMAN	M	297	ENSP00000284136:I297M	ENSP00000284136:I297M	I	-	3	3	SEMA3D	84509508	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.094000	0.41719	0.375000	0.24679	0.528000	0.53228	ATA		0.378	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2		NM_152754		193	306	0	0	0	0.01441	0	193	306		
C7orf43	55262	broad.mit.edu	37	7	99753312	99753312	+	Silent	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:99753312C>G	ENST00000316937.3	-	9	1562	c.1377G>C	c.(1375-1377)ctG>ctC	p.L459L	C7orf43_ENST00000419841.1_Silent_p.L227L|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000457641.1_Silent_p.L190L|C7orf43_ENST00000498638.1_5'Flank|C7orf43_ENST00000394035.2_Silent_p.L35L	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	459										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCCCGTCCTCAGAGCCTGGA	0.637																																						uc003utr.2		NaN																	0					0						c.(1375-1377)CTG>CTC		hypothetical protein LOC55262							86.0	93.0	90.0					7																	99753312		2203	4300	6503	SO:0001819	synonymous_variant	55262							g.chr7:99753312C>G		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.1377G>C	7.37:g.99753312C>G						C7orf43_uc010lgo.2_Silent_p.L85L|C7orf43_uc010lgp.2_Silent_p.L81L|C7orf43_uc011kjj.1_Silent_p.L227L|C7orf43_uc003uts.2_Silent_p.L190L	p.L459L	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN			9	1557	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		459					A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Silent	SNP	ENST00000316937.3	37	c.1377G>C	CCDS5687.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772521	0.31411	.	.	ENSG00000146826	ENST00000456769	.	.	.	5.66	-0.277	0.12898	.	.	.	.	.	T	0.49966	0.1588	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38972	-0.9636	4	.	.	.	-11.3097	4.662	0.12646	0.0:0.3177:0.3561:0.3262	.	.	.	.	Q	365	.	.	E	-	1	0	C7orf43	99591248	0.977000	0.34250	0.998000	0.56505	0.834000	0.47266	0.058000	0.14301	0.247000	0.21414	0.561000	0.74099	GAG		0.637	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2		NM_018275		77	116	0	0	0	0.01441	0	77	116		
NYAP1	222950	broad.mit.edu	37	7	100087130	100087130	+	Missense_Mutation	SNP	G	G	T	rs557553256		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:100087130G>T	ENST00000300179.2	+	4	1945	c.1786G>T	c.(1786-1788)Gat>Tat	p.D596Y	NYAP1_ENST00000423930.1_Missense_Mutation_p.D596Y|NYAP1_ENST00000454988.1_Missense_Mutation_p.D539Y	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	596					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GCAAGGGACCGATGGGGGTGC	0.637																																						uc003uvd.1		NaN																	0				skin(1)	1						c.(1786-1788)GAT>TAT		hypothetical protein FLJ37538							41.0	44.0	43.0					7																	100087130		2203	4300	6503	SO:0001583	missense	222950							g.chr7:100087130G>T	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1786G>T	7.37:g.100087130G>T	ENSP00000300179:p.Asp596Tyr					C7orf51_uc003uve.1_Missense_Mutation_p.D378Y	p.D596Y	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN			4	1945	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		596					Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.1786G>T	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880441	0.33255	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.31510	1.49;1.49;1.49	4.68	3.71	0.42584	.	0.388147	0.22031	N	0.065598	T	0.25044	0.0608	N	0.08118	0	0.44523	D	0.997477	D;D	0.63880	0.993;0.993	P;P	0.58210	0.835;0.835	T	0.02498	-1.1150	10	0.49607	T	0.09	-3.9808	6.9315	0.24444	0.1269:0.0:0.8731:0.0	.	539;596	C9JS30;Q6ZVC0	.;CG051_HUMAN	Y	596;596;539	ENSP00000300179:D596Y;ENSP00000411861:D596Y;ENSP00000394424:D539Y	ENSP00000300179:D596Y	D	+	1	0	C7orf51	99925066	0.463000	0.25799	0.990000	0.47175	0.978000	0.69477	2.138000	0.42140	2.420000	0.82092	0.561000	0.74099	GAT		0.637	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2		NM_173564		34	71	1	0	9.8876e-21	0.021022	1.07805e-20	34	71		
CPED1	79974	broad.mit.edu	37	7	120770316	120770316	+	Missense_Mutation	SNP	G	G	A	rs200776772		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:120770316G>A	ENST00000310396.5	+	12	2012	c.1545G>A	c.(1543-1545)atG>atA	p.M515I	CPED1_ENST00000423795.1_Missense_Mutation_p.M295I|CPED1_ENST00000450913.2_Missense_Mutation_p.M515I	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	515						endoplasmic reticulum (GO:0005783)											TTCAGTTCATGAATAAAAAGA	0.358													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16842	0.0		0.0	False		,,,				2504	0.0					uc003vjq.3		NaN																	0				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(1543-1545)ATG>ATA		hypothetical protein LOC79974 isoform 1							72.0	70.0	71.0					7																	120770316		2203	4300	6503	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120770316G>A		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1545G>A	7.37:g.120770316G>A	ENSP00000309772:p.Met515Ile					C7orf58_uc003vjr.1_Missense_Mutation_p.M515I|C7orf58_uc003vjs.3_Missense_Mutation_p.M515I|C7orf58_uc003vjt.3_Missense_Mutation_p.M295I|C7orf58_uc010lkk.1_Missense_Mutation_p.M295I	p.M515I	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			12	1992	+	all_neural(327;0.117)		515					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.1545G>A	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734864	0.30774	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.50001	2.15;0.76;1.79;1.8;1.35	5.49	5.49	0.81192	.	0.396482	0.28796	N	0.014120	T	0.38532	0.1044	L	0.39898	1.24	0.80722	D	1	B;B;B	0.19706	0.038;0.007;0.002	B;B;B	0.16289	0.015;0.009;0.008	T	0.12451	-1.0547	10	0.22109	T	0.4	.	13.7258	0.62756	0.0:0.0:0.8465:0.1535	.	295;515;515	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	I	515;515;515;295;295	ENSP00000309772:M515I;ENSP00000398082:M515I;ENSP00000406122:M515I;ENSP00000415573:M295I;ENSP00000391952:M295I	ENSP00000309772:M515I	M	+	3	0	C7orf58	120557552	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	4.264000	0.58859	2.732000	0.93576	0.557000	0.71058	ATG		0.358	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1		NM_024913		48	74	0	0	0	0.01441	0	48	74		
LRRC4	64101	broad.mit.edu	37	7	127670603	127670603	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:127670603G>A	ENST00000249363.3	-	2	348	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	31					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GCTGCACACAGAATCCACACT	0.622																																						uc003vmk.2		NaN																	0				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(91-93)CTG>TTG		leucine rich repeat containing 4 precursor							71.0	74.0	73.0					7																	127670603		2203	4300	6503	SO:0001819	synonymous_variant	64101					cell junction|integral to membrane|postsynaptic membrane		g.chr7:127670603G>A	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.91C>T	7.37:g.127670603G>A						SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	p.L31L	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN		Lung(243;0.124)	2	228	-			31					A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Silent	SNP	ENST00000249363.3	37	c.91C>T	CCDS5799.1																																																																																				0.622	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1		NM_022143		59	79	0	0	0	0.01441	0	59	79		
FAM71F1	84691	broad.mit.edu	37	7	128355645	128355645	+	Silent	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:128355645G>T	ENST00000315184.5	+	1	203	c.150G>T	c.(148-150)gcG>gcT	p.A50A	FAM71F1_ENST00000469348.1_Intron|FAM71F1_ENST00000485070.1_Intron	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	50										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						ACCCTGGAGCGGGCCTAGGTG	0.537																																						uc003vno.1		NaN																	0				skin(1)	1						c.(148-150)GCG>GCT		testes development-related NYD-SP18							73.0	79.0	77.0					7																	128355645		2203	4300	6503	SO:0001819	synonymous_variant	84691							g.chr7:128355645G>T	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member A"""	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.150G>T	7.37:g.128355645G>T						FAM71F1_uc010llo.1_Intron|FAM71F1_uc011koq.1_Intron|FAM71F1_uc003vnm.1_Intron|FAM71F1_uc003vnn.1_Intron|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Silent_p.A50A	p.A50A	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN			1	203	+			50					Q8IY75|Q8NA48	Silent	SNP	ENST00000315184.5	37	c.150G>T	CCDS5804.1																																																																																				0.537	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2		NM_032599		59	85	1	0	2.44813e-32	0.01441	2.75204e-32	59	85		
INSIG1	3638	broad.mit.edu	37	7	155093959	155093959	+	Splice_Site	SNP	A	A	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:155093959A>C	ENST00000340368.4	+	4	748		c.e4-1		INSIG1_ENST00000344756.4_Splice_Site|INSIG1_ENST00000342407.5_Intron	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1						cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTATATCACCAGAAATTGGAT	0.378																																						uc003wly.2		NaN																	0					0						c.e4-2		insulin induced gene 1 isoform 1							70.0	73.0	72.0					7																	155093959		2203	4300	6503	SO:0001630	splice_region_variant	3638				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr7:155093959A>C		CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"""INSIG-1 membrane protein"""	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.538-1A>C	7.37:g.155093959A>C						INSIG1_uc011kvu.1_Splice_Site_p.K28_splice|INSIG1_uc003wlz.2_Intron	p.K180_splice	NM_005542	NP_005533	O15503	INSI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	749	+	all_neural(206;0.119)	all_hematologic(28;0.0592)						A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Splice_Site	SNP	ENST00000340368.4	37	c.538_splice	CCDS5938.1	.	.	.	.	.	.	.	.	.	.	A	19.60	3.858388	0.71834	.	.	ENSG00000186480	ENST00000340368;ENST00000344756;ENST00000476756	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2884	0.73849	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	INSIG1	154724894	1.000000	0.71417	0.987000	0.45799	0.891000	0.51852	8.620000	0.90943	2.006000	0.58801	0.533000	0.62120	.		0.378	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322244.3		NM_198336	Intron	58	87	0	0	0	0.01441	0	58	87		
PNOC	5368	broad.mit.edu	37	8	28196662	28196662	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:28196662G>C	ENST00000301908.3	+	3	440	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	RP11-380I10.4_ENST00000521731.1_RNA|PNOC_ENST00000522209.1_Missense_Mutation_p.E14Q	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	78					neuropeptide signaling pathway (GO:0007218)|sensory perception (GO:0007600)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		TGCCGCCCCAGAGCATGTGGC	0.632																																						uc010lva.2		NaN																	0				central_nervous_system(1)	1						c.(232-234)GAG>CAG		prepronociceptin precursor							35.0	38.0	37.0					8																	28196662		2203	4299	6502	SO:0001583	missense	5368				neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:28196662G>C		CCDS6066.1, CCDS64862.1	8p21	2013-02-26			ENSG00000168081	ENSG00000168081		"""Endogenous ligands"""	9163	protein-coding gene	gene with protein product	"""nocistatin"""	601459				8710928, 10101606	Standard	XM_005273532		Approved	PPNOC	uc003xgp.3	Q13519	OTTHUMG00000102125	ENST00000301908.3:c.232G>C	8.37:g.28196662G>C	ENSP00000301908:p.Glu78Gln					PNOC_uc003xgp.2_Missense_Mutation_p.E78Q|PNOC_uc011lau.1_Missense_Mutation_p.E14Q	p.E78Q	NM_006228	NP_006219	Q13519	PNOC_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)	3	440	+		Ovarian(32;0.000953)	78					B7Z749|Q6FH16	Missense_Mutation	SNP	ENST00000301908.3	37	c.232G>C	CCDS6066.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148081	0.57151	.	.	ENSG00000168081	ENST00000518479;ENST00000301908;ENST00000522209	T;T	0.77620	0.87;-1.11	4.78	4.78	0.61160	.	0.856338	0.10566	N	0.659675	D	0.84397	0.5463	M	0.65975	2.015	0.09310	N	1	P	0.52842	0.956	P	0.54499	0.754	T	0.76189	-0.3050	10	0.72032	D	0.01	-5.9621	15.3648	0.74513	0.0:0.0:1.0:0.0	.	78	Q13519	PNOC_HUMAN	Q	78;78;14	ENSP00000428059:E78Q;ENSP00000301908:E78Q	ENSP00000301908:E78Q	E	+	1	0	PNOC	28252581	0.899000	0.30636	0.090000	0.20809	0.001000	0.01503	4.104000	0.57790	2.474000	0.83562	0.655000	0.94253	GAG		0.632	PNOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219964.2		NM_006228		11	5	0	0	0	0.016723	0	11	5		
TEX15	56154	broad.mit.edu	37	8	30702296	30702296	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:30702296G>T	ENST00000256246.2	-	1	4312	c.4238C>A	c.(4237-4239)gCa>gAa	p.A1413E		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1413					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGTTCCTGATGCTACATCCAA	0.363																																						uc003xil.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(4237-4239)GCA>GAA		testis expressed 15							107.0	101.0	103.0					8																	30702296		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30702296G>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4238C>A	8.37:g.30702296G>T	ENSP00000256246:p.Ala1413Glu						p.A1413E	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	4238	-			1413						Missense_Mutation	SNP	ENST00000256246.2	37	c.4238C>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013488	0.35511	.	.	ENSG00000133863	ENST00000256246	T	0.10860	2.83	5.79	-5.16	0.02857	.	1.328260	0.04678	N	0.411858	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.19391	0.025	T	0.41980	-0.9478	10	0.87932	D	0	.	2.4126	0.04428	0.4608:0.2184:0.2098:0.111	.	1413	Q9BXT5	TEX15_HUMAN	E	1413	ENSP00000256246:A1413E	ENSP00000256246:A1413E	A	-	2	0	TEX15	30821838	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.304000	0.08199	-0.736000	0.04831	0.650000	0.86243	GCA		0.363	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1				42	43	1	0	1.06522e-23	0.013114	1.17716e-23	42	43		
UNC5D	137970	broad.mit.edu	37	8	35584024	35584024	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:35584024G>T	ENST00000404895.2	+	10	1986	c.1658G>T	c.(1657-1659)gGg>gTg	p.G553V	UNC5D_ENST00000453357.2_Missense_Mutation_p.G548V|UNC5D_ENST00000420357.1_Missense_Mutation_p.G486V|UNC5D_ENST00000287272.2_Missense_Mutation_p.G484V|UNC5D_ENST00000416672.1_Missense_Mutation_p.G558V|UNC5D_ENST00000449677.1_Missense_Mutation_p.G129V	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	553	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CATTTAGGGGGGCGCTTAGTA	0.413																																						uc003xjr.1		NaN																	0				upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(1657-1659)GGG>GTG		unc-5 homolog D precursor							153.0	157.0	156.0					8																	35584024		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35584024G>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1658G>T	8.37:g.35584024G>T	ENSP00000385143:p.Gly553Val					UNC5D_uc003xjs.1_Missense_Mutation_p.G548V|UNC5D_uc003xju.1_Missense_Mutation_p.G129V|UNC5D_uc003xjt.1_Missense_Mutation_p.G311V	p.G553V	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	10	1986	+			553			ZU5.|Cytoplasmic (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1658G>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345078	0.82022	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.71	5.71	0.89125	ZU5 (2);	0.046382	0.85682	D	0.000000	D	0.92648	0.7664	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.79108	0.992;0.979;0.964;0.979	D	0.93234	0.6620	10	0.87932	D	0	-20.9681	19.8493	0.96733	0.0:0.0:1.0:0.0	.	129;558;548;553	E9PDS8;C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;.;UNC5D_HUMAN	V	553;486;484;558;548;129	ENSP00000385143:G553V;ENSP00000392739:G486V;ENSP00000287272:G484V;ENSP00000412652:G558V;ENSP00000394303:G548V;ENSP00000397211:G129V	ENSP00000287272:G484V	G	+	2	0	UNC5D	35703566	1.000000	0.71417	0.997000	0.53966	0.806000	0.45545	8.922000	0.92789	2.701000	0.92244	0.563000	0.77884	GGG		0.413	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2				41	42	1	0	6.4771e-29	0.010771	7.23128e-29	41	42		
KCNU1	157855	broad.mit.edu	37	8	36662755	36662755	+	Silent	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:36662755T>C	ENST00000399881.3	+	4	457	c.420T>C	c.(418-420)ccT>ccC	p.P140P		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	140					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AAACCATTCCTATTGATTTGG	0.363																																						uc010lvw.2		NaN																	0				ovary(1)	1						c.(418-420)CCT>CCC		potassium channel, subfamily U, member 1							186.0	166.0	172.0					8																	36662755		1838	4088	5926	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36662755T>C	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.420T>C	8.37:g.36662755T>C						KCNU1_uc003xjw.2_RNA	p.P140P	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	4	507	+			140			Helical; Name=Segment S2; (Potential).			Silent	SNP	ENST00000399881.3	37	c.420T>C	CCDS55220.1																																																																																				0.363	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1		NM_001031836		7	5	0	0	0	0.00308	0	7	5		
ADAM2	2515	broad.mit.edu	37	8	39607251	39607251	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:39607251G>C	ENST00000265708.4	-	17	1913	c.1810C>G	c.(1810-1812)Caa>Gaa	p.Q604E	ADAM2_ENST00000521880.1_Missense_Mutation_p.Q541E|ADAM2_ENST00000379853.2_Missense_Mutation_p.Q448E|ADAM2_ENST00000347580.4_Missense_Mutation_p.Q585E	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	604	Cys-rich.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ACACATCTTTGATTCCTGCAA	0.343																																						uc003xnj.2		NaN																	0				ovary(1)|lung(1)	2						c.(1810-1812)CAA>GAA		ADAM metallopeptidase domain 2 proprotein							114.0	107.0	109.0					8																	39607251		2203	4300	6503	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39607251G>C	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1810C>G	8.37:g.39607251G>C	ENSP00000265708:p.Gln604Glu					ADAM2_uc003xnk.2_Missense_Mutation_p.Q585E|ADAM2_uc011lck.1_Missense_Mutation_p.Q541E|ADAM2_uc003xnl.2_Missense_Mutation_p.Q448E	p.Q604E	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	17	1885	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	604			Extracellular (Potential).|Cys-rich.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.1810C>G	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.448660	0.01080	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	D;D;D;T	0.86366	-2.11;-2.11;-2.11;5.18	4.21	-8.42	0.00957	ADAM, cysteine-rich (1);	.	.	.	.	D	0.86535	0.5956	M	0.82433	2.59	0.09310	N	1	B;B;B;B	0.29270	0.24;0.028;0.024;0.071	B;B;B;B	0.36030	0.216;0.011;0.037;0.065	T	0.75414	-0.3326	8	.	.	.	.	12.9859	0.58592	0.1131:0.0:0.7274:0.1595	.	541;448;585;604	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	E	585;448;604;541	ENSP00000343854:Q585E;ENSP00000369182:Q448E;ENSP00000265708:Q604E;ENSP00000429352:Q541E	.	Q	-	1	0	ADAM2	39726408	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.613000	0.05610	-1.305000	0.02327	-1.047000	0.02352	CAA		0.343	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1		NM_001464		38	94	0	0	0	0.007835	0	38	94		
CHD7	55636	broad.mit.edu	37	8	61653990	61653990	+	5'UTR	SNP	A	A	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:61653990A>T	ENST00000423902.2	+	0	478				CHD7_ENST00000525508.1_5'Flank|CHD7_ENST00000524602.1_5'UTR	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7						adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGTTGGAAGAAGATGGCAGAT	0.478																																						uc003xue.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(-3-1)GAAGA>GATGA		chromodomain helicase DNA binding protein 7							106.0	103.0	104.0					8																	61653990		1943	4143	6086	SO:0001623	5_prime_UTR_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61653990A>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.-2A>T	8.37:g.61653990A>T								NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	476	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)						D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Translation_Start_Site	SNP	ENST00000423902.2	37	c.-1A>T	CCDS47865.1																																																																																				0.478	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2		XM_098762		3	12	0	0	0	0.004672	0	3	12		
CHD7	55636	broad.mit.edu	37	8	61765060	61765060	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:61765060G>C	ENST00000423902.2	+	30	6377	c.5898G>C	c.(5896-5898)tgG>tgC	p.W1966C	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1966					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTAACAGGTGGACAAGAAGAG	0.383																																						uc003xue.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(5896-5898)TGG>TGC		chromodomain helicase DNA binding protein 7							41.0	38.0	39.0					8																	61765060		1846	4090	5936	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61765060G>C	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.5898G>C	8.37:g.61765060G>C	ENSP00000392028:p.Trp1966Cys						p.W1966C	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		30	6375	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1966					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.5898G>C	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019799	0.75275	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.96073	-3.9	5.18	5.18	0.71444	SANT domain, DNA binding (1);	0.000000	0.85682	D	0.000000	D	0.97955	0.9327	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98698	1.0699	10	0.87932	D	0	-9.3098	19.0585	0.93076	0.0:0.0:1.0:0.0	.	1966	Q9P2D1	CHD7_HUMAN	C	1966	ENSP00000392028:W1966C	ENSP00000307304:W1966C	W	+	3	0	CHD7	61927614	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.761000	0.98940	2.583000	0.87209	0.655000	0.94253	TGG		0.383	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2		XM_098762		11	33	0	0	0	0.008291	0	11	33		
TRHR	7201	broad.mit.edu	37	8	110100398	110100398	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:110100398C>T	ENST00000518632.1	+	2	1008	c.657C>T	c.(655-657)ttC>ttT	p.F219F	TRHR_ENST00000311762.2_Silent_p.F219F			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	219					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GAATCCTTTTCTTAAATCCCA	0.358																																						uc003ymz.3		NaN																	0				skin(2)|lung(1)	3						c.(655-657)TTC>TTT		thyrotropin-releasing hormone receptor							82.0	79.0	80.0					8																	110100398		2203	4300	6503	SO:0001819	synonymous_variant	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110100398C>T		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.657C>T	8.37:g.110100398C>T							p.F219F	NM_003301	NP_003292	P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		1	673	+			219			Cytoplasmic (Potential).		Q2M339	Silent	SNP	ENST00000518632.1	37	c.657C>T	CCDS6311.1																																																																																				0.358	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1				34	119	0	0	0	0.019004	0	34	119		
RAD21	5885	broad.mit.edu	37	8	117859890	117859890	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:117859890A>G	ENST00000297338.2	-	14	2032	c.1745T>C	c.(1744-1746)cTt>cCt	p.L582P	RAD21_ENST00000523986.1_Missense_Mutation_p.L86P|UTP23_ENST00000520733.1_Intron|RAD21_ENST00000517749.1_Missense_Mutation_p.L20P|RAD21_ENST00000518055.1_Missense_Mutation_p.L127P|UTP23_ENST00000517820.1_Intron	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	582					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					ACATAACTCAAGCAAACTGAT	0.378																																						uc003yod.2		NaN																	0				lung(1)|skin(1)	2						c.(1744-1746)CTT>CCT		RAD21 homolog							81.0	75.0	77.0					8																	117859890		2203	4300	6503	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117859890A>G	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1745T>C	8.37:g.117859890A>G	ENSP00000297338:p.Leu582Pro						p.L582P	NM_006265	NP_006256	O60216	RAD21_HUMAN			14	2033	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		582					A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.1745T>C	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.596602	0.66332	.	.	ENSG00000164754	ENST00000297338;ENST00000523986;ENST00000517749;ENST00000518055	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	6.06	6.06	0.98353	Rad21/Rec8-like protein, C-terminal (1);Rad21/Rec8-like protein, C-terminal, eukaryotic (1);	0.000000	0.85682	D	0.000000	D	0.86176	0.5870	M	0.64997	1.995	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.84221	0.0461	10	0.30854	T	0.27	-8.834	16.6245	0.84952	1.0:0.0:0.0:0.0	.	582	O60216	RAD21_HUMAN	P	582;86;20;127	ENSP00000297338:L582P;ENSP00000428513:L86P;ENSP00000430273:L20P;ENSP00000428003:L127P	ENSP00000297338:L582P	L	-	2	0	RAD21	117929071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.327000	0.96396	2.323000	0.78572	0.528000	0.53228	CTT		0.378	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1		NM_006265		23	101	0	0	0	0.014323	0	23	101		
RAD21	5885	broad.mit.edu	37	8	117870623	117870623	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:117870623C>A	ENST00000297338.2	-	5	736	c.449G>T	c.(448-450)gGg>gTg	p.G150V	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	150					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					ACTGATGTTCCCAACTTCTTC	0.318																																						uc003yod.2		NaN																	0				lung(1)|skin(1)	2						c.(448-450)GGG>GTG		RAD21 homolog							121.0	121.0	121.0					8																	117870623		2203	4300	6503	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117870623C>A	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.449G>T	8.37:g.117870623C>A	ENSP00000297338:p.Gly150Val						p.G150V	NM_006265	NP_006256	O60216	RAD21_HUMAN			5	737	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		150					A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.449G>T	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621665	0.66787	.	.	ENSG00000164754	ENST00000297338;ENST00000520992;ENST00000517485	T;T;T	0.56776	0.44;1.48;1.48	5.65	5.65	0.86999	.	0.045854	0.85682	D	0.000000	T	0.54078	0.1836	M	0.70275	2.135	0.80722	D	1	P	0.38195	0.622	B	0.34346	0.18	T	0.54748	-0.8247	10	0.31617	T	0.26	-11.532	19.7341	0.96195	0.0:1.0:0.0:0.0	.	150	O60216	RAD21_HUMAN	V	150	ENSP00000297338:G150V;ENSP00000429342:G150V;ENSP00000427923:G150V	ENSP00000297338:G150V	G	-	2	0	RAD21	117939804	1.000000	0.71417	0.984000	0.44739	0.955000	0.61496	7.463000	0.80869	2.672000	0.90937	0.650000	0.86243	GGG		0.318	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1		NM_006265		24	162	1	0	3.01185e-09	0.021523	3.147e-09	24	162		
EXT1	2131	broad.mit.edu	37	8	119122781	119122781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:119122781G>A	ENST00000378204.2	-	1	1311	c.505C>T	c.(505-507)Cag>Tag	p.Q169*		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	169					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGCACATACTGAGGTGACAAC	0.483			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													uc003yok.1		NaN	yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	Mis|N|F|S	multiple exostoses type 1 gene			M		exostoses|osteosarcoma			0				ovary(2)|lung(2)	4						c.(505-507)CAG>TAG		exostosin 1							121.0	137.0	132.0					8																	119122781		2203	4300	6503	SO:0001587	stop_gained	2131	Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:119122781G>A	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.505C>T	8.37:g.119122781G>A	ENSP00000367446:p.Gln169*						p.Q169*	NM_000127	NP_000118	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		1	1278	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		169			Lumenal (Potential).		B2R7V2|Q9BVI9	Nonsense_Mutation	SNP	ENST00000378204.2	37	c.505C>T	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	G	46	12.376343	0.99662	.	.	ENSG00000182197	ENST00000378204	.	.	.	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-4.9532	19.5572	0.95357	0.0:0.0:1.0:0.0	.	.	.	.	X	169	.	ENSP00000367446:Q169X	Q	-	1	0	EXT1	119191962	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.727000	0.98787	2.616000	0.88540	0.462000	0.41574	CAG		0.483	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3		NM_000127		228	202	0	0	0	0.01441	0	228	202		
ZHX1	11244	broad.mit.edu	37	8	124267128	124267128	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:124267128C>T	ENST00000522655.1	-	3	1599	c.1059G>A	c.(1057-1059)agG>agA	p.R353R	ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000395571.3_Silent_p.R353R|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Silent_p.R353R			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	353	Required for dimerization.|Required for interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGAATTGTTTCCTTCTTGCCT	0.398																																						uc003yqe.2		NaN																	0				ovary(1)	1						c.(1057-1059)AGG>AGA		zinc fingers and homeoboxes 1							240.0	202.0	215.0					8																	124267128		2203	4300	6503	SO:0001819	synonymous_variant	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124267128C>T	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.1059G>A	8.37:g.124267128C>T						C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Silent_p.R353R|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Silent_p.R353R	p.R353R	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1489	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		353			Required for dimerization.|Required for interaction with NFYA.		Q8IWD8	Silent	SNP	ENST00000522655.1	37	c.1059G>A	CCDS6342.1	.	.	.	.	.	.	.	.	.	.	C	5.143	0.211966	0.09757	.	.	ENSG00000165156	ENST00000520474	.	.	.	5.8	-3.57	0.04612	.	.	.	.	.	T	0.51822	0.1697	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49399	-0.8944	4	.	.	.	-18.9633	8.9878	0.36005	0.1188:0.5407:0.0:0.3405	.	.	.	.	E	38	.	.	G	-	2	0	ZHX1	124336309	0.412000	0.25392	0.942000	0.38095	0.949000	0.60115	-0.213000	0.09305	-0.665000	0.05317	-0.378000	0.06908	GGA		0.398	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1				284	240	0	0	0	0.01441	0	284	240		
ATAD2	29028	broad.mit.edu	37	8	124371525	124371525	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:124371525C>G	ENST00000287394.5	-	11	1425	c.1318G>C	c.(1318-1320)Gag>Cag	p.E440Q	ATAD2_ENST00000534257.1_5'UTR|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	440					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ACCACCATCTCTTTTAGAGCT	0.328																																						uc003yqh.3		NaN																	0				ovary(2)	2						c.(1318-1320)GAG>CAG		ATPase family, AAA domain containing 2							111.0	115.0	113.0					8																	124371525		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124371525C>G	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1318G>C	8.37:g.124371525C>G	ENSP00000287394:p.Glu440Gln					ATAD2_uc011lii.1_Missense_Mutation_p.E231Q|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.E440Q	p.E440Q	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		11	1426	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		440					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.1318G>C	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905067	0.92035	.	.	ENSG00000156802	ENST00000287394	D	0.95342	-3.68	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.96697	0.8922	M	0.63208	1.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97418	1.0007	10	0.87932	D	0	-17.8596	18.0085	0.89216	0.0:1.0:0.0:0.0	.	270;440	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	Q	440	ENSP00000287394:E440Q	ENSP00000287394:E440Q	E	-	1	0	ATAD2	124440706	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.747000	0.85070	2.245000	0.73994	0.491000	0.48974	GAG		0.328	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2		NM_014109		81	333	0	0	0	0.01441	0	81	333		
KLHL38	340359	broad.mit.edu	37	8	124664012	124664012	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:124664012G>C	ENST00000325995.7	-	1	1178	c.1155C>G	c.(1153-1155)atC>atG	p.I385M	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	385										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CGATGGAGAAGATGAAGTTCT	0.557																																						uc003yqs.1		NaN																	0					0						c.(1153-1155)ATC>ATG		kelch-like 38							68.0	68.0	68.0					8																	124664012		1990	4169	6159	SO:0001583	missense	340359							g.chr8:124664012G>C		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1155C>G	8.37:g.124664012G>C	ENSP00000321475:p.Ile385Met						p.I385M	NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN			1	1179	-			385			Kelch 3.		A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.1155C>G	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356169	0.41700	.	.	ENSG00000175946	ENST00000325995	D	0.85171	-1.95	5.18	3.38	0.38709	Kelch-type beta propeller (1);	0.092812	0.64402	D	0.000001	D	0.90445	0.7008	M	0.87381	2.88	0.39711	D	0.971328	D	0.69078	0.997	D	0.70227	0.968	D	0.87493	0.2428	10	0.30078	T	0.28	.	5.1616	0.15064	0.246:0.0:0.6091:0.1448	.	385	Q2WGJ6	KLH38_HUMAN	M	385	ENSP00000321475:I385M	ENSP00000321475:I385M	I	-	3	3	KLHL38	124733193	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.463000	0.35277	0.679000	0.31345	0.561000	0.74099	ATC		0.557	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1				30	130	0	0	0	0.009535	0	30	130		
KIAA0196	9897	broad.mit.edu	37	8	126061284	126061284	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:126061284G>A	ENST00000318410.7	-	19	2692	c.2343C>T	c.(2341-2343)aaC>aaT	p.N781N	KIAA0196_ENST00000517845.1_Silent_p.N633N	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	781					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTTGCTCCACGTTGTAATTTA	0.323																																						uc003yrt.2		NaN																	0				ovary(2)	2						c.(2341-2343)AAC>AAT		strumpellin							101.0	91.0	94.0					8																	126061284		2203	4300	6503	SO:0001819	synonymous_variant	9897				cell death	WASH complex		g.chr8:126061284G>A		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.2343C>T	8.37:g.126061284G>A						KIAA0196_uc011lir.1_Silent_p.N633N|KIAA0196_uc003yru.1_Silent_p.N355N	p.N781N	NM_014846	NP_055661	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		19	2672	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		781					A8K4R7|Q3KQX5|Q8TBQ2	Silent	SNP	ENST00000318410.7	37	c.2343C>T	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	g	0.224	-1.026372	0.02045	.	.	ENSG00000164961	ENST00000523273	.	.	.	5.58	-5.92	0.02261	.	.	.	.	.	T	0.65471	0.2694	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67987	-0.5528	4	.	.	.	-27.8466	16.9612	0.86273	0.4178:0.0:0.5822:0.0	.	.	.	.	M	398	.	.	T	-	2	0	KIAA0196	126130466	0.026000	0.19158	0.826000	0.32828	0.084000	0.17831	-0.944000	0.03913	-1.021000	0.03350	-2.177000	0.00319	ACG		0.323	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1		NM_014846		19	94	0	0	0	0.007413	0	19	94		
KHDRBS3	10656	broad.mit.edu	37	8	136594189	136594189	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:136594189G>T	ENST00000355849.5	+	6	1090	c.680G>T	c.(679-681)gGa>gTa	p.G227V	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	227	Interaction with SIAH1.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ACTCCCAGAGGAGTCCTGTCC	0.592																																						uc003yuv.2		NaN																	0				ovary(2)	2						c.(679-681)GGA>GTA		KH domain containing, RNA binding, signal							73.0	71.0	72.0					8																	136594189		2203	4300	6503	SO:0001583	missense	10656				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr8:136594189G>T	AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.680G>T	8.37:g.136594189G>T	ENSP00000348108:p.Gly227Val					KHDRBS3_uc003yuw.2_Missense_Mutation_p.G227V|KHDRBS3_uc010mek.2_RNA	p.G227V	NM_006558	NP_006549	O75525	KHDR3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.247)		6	1074	+	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		227	Missing: Complete loss of SIAH1-mediated degradation.		Interaction with SIAH1.		Q6NUL8|Q9UPA8	Missense_Mutation	SNP	ENST00000355849.5	37	c.680G>T	CCDS6374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.31|19.31	3.803541|3.803541	0.70682|0.70682	.|.	.|.	ENSG00000131773|ENSG00000131773	ENST00000524282|ENST00000355849;ENST00000524199	.|T	.|0.52526	.|0.66	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.162224	.|0.64402	.|D	.|0.000019	.|T	.|0.71978	.|0.3404	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.994	.|D;P	.|0.91635	.|0.999;0.804	.|T	.|0.72782	.|-0.4189	.|10	.|0.72032	.|D	.|0.01	-27.3505|-27.3505	19.632|19.632	0.95713|0.95713	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|227;227	.|O75525-2;O75525	.|.;KHDR3_HUMAN	X|V	142|227;199	.|ENSP00000348108:G227V	.|ENSP00000348108:G227V	E|G	+|+	1|2	0|0	KHDRBS3|KHDRBS3	136663371|136663371	1.000000|1.000000	0.71417|0.71417	0.866000|0.866000	0.34008|0.34008	0.478000|0.478000	0.33099|0.33099	5.039000|5.039000	0.64185|0.64185	2.890000|2.890000	0.99128|0.99128	0.650000|0.650000	0.86243|0.86243	GAG|GGA		0.592	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1				29	101	1	0	4.22769e-11	0.00632	4.47477e-11	29	101		
KHDRBS3	10656	broad.mit.edu	37	8	136594225	136594225	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:136594225G>T	ENST00000355849.5	+	6	1126	c.716G>T	c.(715-717)aGa>aTa	p.R239I	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	239	Interaction with SIAH1.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			AGTCGGGGAAGAGGACTTCTC	0.587																																						uc003yuv.2		NaN																	0				ovary(2)	2						c.(715-717)AGA>ATA		KH domain containing, RNA binding, signal							58.0	57.0	57.0					8																	136594225		2203	4300	6503	SO:0001583	missense	10656				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr8:136594225G>T	AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.716G>T	8.37:g.136594225G>T	ENSP00000348108:p.Arg239Ile					KHDRBS3_uc003yuw.2_Missense_Mutation_p.R239I|KHDRBS3_uc010mek.2_RNA	p.R239I	NM_006558	NP_006549	O75525	KHDR3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.247)		6	1110	+	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		239	Missing: Complete loss of SIAH1-mediated degradation.		Interaction with SIAH1.		Q6NUL8|Q9UPA8	Missense_Mutation	SNP	ENST00000355849.5	37	c.716G>T	CCDS6374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.273561|4.273561	0.80580|0.80580	.|.	.|.	ENSG00000131773|ENSG00000131773	ENST00000524282|ENST00000355849;ENST00000524199	.|T	.|0.49720	.|0.77	6.07|6.07	5.2|5.2	0.72013|0.72013	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.67239	.|0.2872	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	.|P;D	.|0.69078	.|0.899;0.997	.|P;D	.|0.65010	.|0.469;0.931	.|T	.|0.70407	.|-0.4880	.|10	.|0.49607	.|T	.|0.09	-28.7043|-28.7043	14.6489|14.6489	0.68780|0.68780	0.0694:0.0:0.9306:0.0|0.0694:0.0:0.9306:0.0	.|.	.|239;239	.|O75525-2;O75525	.|.;KHDR3_HUMAN	X|I	154|239;211	.|ENSP00000348108:R239I	.|ENSP00000348108:R239I	E|R	+|+	1|2	0|0	KHDRBS3|KHDRBS3	136663407|136663407	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	6.744000|6.744000	0.74854|0.74854	1.584000|1.584000	0.49913|0.49913	-0.157000|-0.157000	0.13467|0.13467	GAG|AGA		0.587	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1				27	97	1	0	4.7796e-09	0.004656	4.97812e-09	27	97		
SCRIB	23513	broad.mit.edu	37	8	144895029	144895029	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:144895029G>A	ENST00000320476.3	-	8	751	c.745C>T	c.(745-747)Ctg>Ttg	p.L249L	SCRIB_ENST00000356994.2_Silent_p.L249L|MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Silent_p.L168L	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	249	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGGGACAGCAGCAGGTCAGTG	0.701																																					Pancreas(51;966 1133 10533 14576 29674)	uc003yzp.1		NaN																	0				urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(745-747)CTG>TTG		scribble isoform b							36.0	36.0	36.0					8																	144895029		2203	4299	6502	SO:0001819	synonymous_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144895029G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.745C>T	8.37:g.144895029G>A						SCRIB_uc003yzo.1_Silent_p.L249L	p.L249L	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		8	752	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		249			LRR 10.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.745C>T	CCDS6411.1																																																																																				0.701	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1		NM_015356		3	18	0	0	0	0.009096	0	3	18		
ADCK5	203054	broad.mit.edu	37	8	145608287	145608287	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:145608287C>G	ENST00000308860.6	+	3	166	c.122C>G	c.(121-123)tCc>tGc	p.S41C	ADCK5_ENST00000532190.1_Missense_Mutation_p.S41C|ADCK5_ENST00000526231.2_3'UTR	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	41						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTCAGGTTCTCCAGCCCCACA	0.672																																						uc003zch.2		NaN																	0				stomach(1)	1						c.(121-123)TCC>TGC		aarF domain containing kinase 5							20.0	18.0	19.0					8																	145608287		2198	4291	6489	SO:0001583	missense	203054					integral to membrane	protein serine/threonine kinase activity	g.chr8:145608287C>G	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.122C>G	8.37:g.145608287C>G	ENSP00000310547:p.Ser41Cys					ADCK5_uc003zcg.2_RNA	p.S41C	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		3	176	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		41					B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Missense_Mutation	SNP	ENST00000308860.6	37	c.122C>G	CCDS34965.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574931	0.28092	.	.	ENSG00000173137	ENST00000308860;ENST00000532190	T;T	0.75821	-0.97;0.8	4.73	-5.23	0.02798	.	2.294720	0.02410	N	0.081575	T	0.55609	0.1931	L	0.29908	0.895	0.09310	N	1	P	0.41748	0.761	B	0.37780	0.258	T	0.52593	-0.8555	10	0.38643	T	0.18	0.854	1.5378	0.02549	0.1166:0.3129:0.2503:0.3203	.	41	Q3MIX3	ADCK5_HUMAN	C	41	ENSP00000310547:S41C;ENSP00000435155:S41C	ENSP00000310547:S41C	S	+	2	0	ADCK5	145579095	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.333000	0.02667	-0.636000	0.05524	-0.772000	0.03388	TCC		0.672	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2		NM_174922		2	2	0	0	0	0.009096	0	2	2		
GLDC	2731	broad.mit.edu	37	9	6589258	6589258	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:6589258C>G	ENST00000321612.6	-	12	1667	c.1517G>C	c.(1516-1518)aGa>aCa	p.R506T		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	506					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	TGGAATACCTCTGCACTCCTC	0.517																																						uc003zkc.2		NaN																	0				ovary(2)	2						c.(1516-1518)AGA>ACA		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						150.0	118.0	129.0					9																	6589258		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6589258C>G	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1517G>C	9.37:g.6589258C>G	ENSP00000370737:p.Arg506Thr						p.R506T	NM_000170	NP_000161	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	12	1710	-		Acute lymphoblastic leukemia(23;0.161)	506					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.1517G>C	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	C	3.828	-0.036418	0.07497	.	.	ENSG00000178445	ENST00000321612	D	0.99113	-5.44	5.37	4.47	0.54385	.	0.196692	0.52532	D	0.000068	D	0.95598	0.8569	N	0.22421	0.69	0.33595	D	0.601635	B	0.09022	0.002	B	0.10450	0.005	D	0.94042	0.7310	10	0.13853	T	0.58	-13.2956	8.4324	0.32766	0.0:0.7504:0.0:0.2496	.	506	P23378	GCSP_HUMAN	T	506	ENSP00000370737:R506T	ENSP00000370737:R506T	R	-	2	0	GLDC	6579258	1.000000	0.71417	0.964000	0.40570	0.197000	0.23852	2.617000	0.46385	1.265000	0.44215	0.557000	0.71058	AGA		0.517	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2		NM_000170		40	40	0	0	0	0.007835	0	40	40		
PTPRD	5789	broad.mit.edu	37	9	8518200	8518200	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:8518200A>T	ENST00000381196.4	-	18	1734	c.1191T>A	c.(1189-1191)aaT>aaA	p.N397K	PTPRD_ENST00000540109.1_Missense_Mutation_p.N397K|PTPRD_ENST00000397617.3_Missense_Mutation_p.N387K|PTPRD_ENST00000360074.4_Missense_Mutation_p.N384K|PTPRD_ENST00000356435.5_Missense_Mutation_p.N397K|PTPRD_ENST00000537002.1_Missense_Mutation_p.N394K|PTPRD_ENST00000486161.1_Missense_Mutation_p.N397K|PTPRD_ENST00000355233.5_Missense_Mutation_p.N397K|PTPRD_ENST00000397611.3_Missense_Mutation_p.N394K|PTPRD_ENST00000358503.5_Missense_Mutation_p.N384K|PTPRD_ENST00000397606.3_Missense_Mutation_p.N387K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	397	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCCCAATGTTATTGACAGCAA	0.522										TSP Lung(15;0.13)																												uc003zkk.2		NaN																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(1189-1191)AAT>AAA		protein tyrosine phosphatase, receptor type, D							140.0	139.0	140.0					9																	8518200		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8518200A>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1191T>A	9.37:g.8518200A>T	ENSP00000370593:p.Asn397Lys	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.N397K|PTPRD_uc003zkq.2_Missense_Mutation_p.N397K|PTPRD_uc003zkr.2_Missense_Mutation_p.N391K|PTPRD_uc003zks.2_Missense_Mutation_p.N387K|PTPRD_uc003zkl.2_Missense_Mutation_p.N397K|PTPRD_uc003zkm.2_Missense_Mutation_p.N384K|PTPRD_uc003zkn.2_Missense_Mutation_p.N397K|PTPRD_uc003zko.2_Missense_Mutation_p.N394K	p.N397K	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	20	1902	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	397			Fibronectin type-III 1.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.1191T>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	A	13.49	2.251793	0.39797	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04;0.04;0.04;0.04;0.04;0.04	5.16	1.56	0.23342	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84924	0.5580	H	0.98802	4.335	0.51233	D	0.999916	D;D;D;D;P;D;D;D;D	0.89917	0.997;0.999;0.996;1.0;0.564;0.981;1.0;0.999;1.0	D;D;D;D;P;D;D;D;D	0.91635	0.958;0.994;0.968;0.997;0.467;0.925;0.993;0.999;0.997	D	0.83966	0.0324	9	.	.	.	.	8.6179	0.33842	0.7785:0.0:0.2215:0.0	.	387;391;397;397;394;394;384;397;397	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	K	397;397;384;384;397;387;394;394;397;397;397;387	ENSP00000370593:N397K;ENSP00000348812:N397K;ENSP00000353187:N384K;ENSP00000351293:N384K;ENSP00000347373:N397K;ENSP00000380741:N387K;ENSP00000380735:N394K;ENSP00000440515:N394K;ENSP00000438164:N397K;ENSP00000417093:N397K;ENSP00000380731:N387K	.	N	-	3	2	PTPRD	8508200	1.000000	0.71417	0.999000	0.59377	0.143000	0.21401	2.948000	0.49066	0.021000	0.15133	-0.467000	0.05162	AAT		0.522	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3				57	186	0	0	0	0.01441	0	57	186		
KLHL9	55958	broad.mit.edu	37	9	21334596	21334596	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:21334596T>C	ENST00000359039.4	-	1	783	c.263A>G	c.(262-264)cAa>cGa	p.Q88R	KLHL9_ENST00000537938.1_Missense_Mutation_p.Q20R			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	88	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		CATCAAATCTTGTTCTTTCAT	0.378																																						uc003zoy.2		NaN																	0				ovary(3)|skin(1)	4						c.(262-264)CAA>CGA		kelch-like 9							148.0	135.0	139.0					9																	21334596		2203	4300	6503	SO:0001583	missense	55958				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		g.chr9:21334596T>C	AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.263A>G	9.37:g.21334596T>C	ENSP00000351933:p.Gln88Arg					KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	p.Q88R	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN		Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)	1	834	-			88			BTB.		Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	c.263A>G	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.068058	0.36470	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.70164	-0.46;-0.46	5.49	5.49	0.81192	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.123207	0.56097	D	0.000034	T	0.50429	0.1615	N	0.16066	0.365	0.53005	D	0.999968	B	0.15719	0.014	B	0.18263	0.021	T	0.46105	-0.9215	10	0.36615	T	0.2	.	13.8561	0.63527	0.0:0.0:0.0:1.0	.	88	Q9P2J3	KLHL9_HUMAN	R	88;20	ENSP00000351933:Q88R;ENSP00000437733:Q20R	ENSP00000351933:Q88R	Q	-	2	0	KLHL9	21324596	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	6.220000	0.72237	2.222000	0.72286	0.533000	0.62120	CAA		0.378	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2		NM_018847		72	266	0	0	0	0.01441	0	72	266		
IFT74	80173	broad.mit.edu	37	9	26984496	26984496	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:26984496G>A	ENST00000443698.1	+	6	575		c.e6-1		IFT74_ENST00000433700.1_Splice_Site|IFT74_ENST00000380062.5_Splice_Site|IFT74_ENST00000429045.2_Splice_Site	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74						cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TATGCTTTCAGGGCTGAGACT	0.269																																						uc010mja.2		NaN																	0				skin(1)	1						c.e6-1		coiled-coil domain containing 2 isoform a							98.0	96.0	96.0					9																	26984496		1792	4068	5860	SO:0001630	splice_region_variant	80173					cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum		g.chr9:26984496G>A	AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"""Intraflagellar transport homologs"""	21424	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 1"""	608040	"""coiled-coil domain containing 2"", ""intraflagellar transport 74 homolog (Chlamydomonas)"""	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.405-1G>A	9.37:g.26984496G>A						IFT74_uc010mjb.2_Splice_Site_p.R135_splice|IFT74_uc003zqf.3_Splice_Site_p.R135_splice|IFT74_uc003zqg.3_Splice_Site_p.R135_splice	p.R135_splice	NM_001099223	NP_001092693	Q96LB3	IFT74_HUMAN		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)	6	532	+		all_neural(11;2.36e-10)						Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Splice_Site	SNP	ENST00000443698.1	37	c.405_splice	CCDS43793.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448892	0.63178	.	.	ENSG00000096872	ENST00000519968;ENST00000433700;ENST00000443698;ENST00000380062;ENST00000544022;ENST00000429045;ENST00000517866	.	.	.	5.81	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0488	0.71850	0.0683:0.0:0.9316:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IFT74	26974496	1.000000	0.71417	0.995000	0.50966	0.829000	0.46940	9.082000	0.94059	1.471000	0.48121	0.585000	0.79938	.		0.269	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055476.2		NM_025103	Intron	70	143	0	0	0	0.01441	0	70	143		
KIAA1161	57462	broad.mit.edu	37	9	34372097	34372097	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:34372097C>T	ENST00000297625.7	-	2	968	c.743G>A	c.(742-744)cGa>cAa	p.R248Q		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	282					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CACGCACACTCGGTAGCTCAG	0.662																																						uc003zue.3		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(844-846)CGA>CAA		hypothetical protein LOC57462							29.0	32.0	31.0					9																	34372097		2137	4246	6383	SO:0001583	missense	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34372097C>T	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.743G>A	9.37:g.34372097C>T	ENSP00000297625:p.Arg248Gln						p.R282Q	NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	3	1012	-			282			Extracellular (Potential).		Q5T587|Q5T588|Q9ULQ9	Missense_Mutation	SNP	ENST00000297625.7	37	c.845G>A		.	.	.	.	.	.	.	.	.	.	C	22.8	4.333514	0.81801	.	.	ENSG00000164976	ENST00000297625;ENST00000379142	T;T	0.70516	-0.49;-0.49	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.65842	0.2730	M	0.65975	2.015	0.48901	D	0.999724	P	0.42078	0.77	B	0.28385	0.089	T	0.67051	-0.5768	10	0.29301	T	0.29	-9.5889	19.2273	0.93822	0.0:1.0:0.0:0.0	.	282	Q6NSJ0	K1161_HUMAN	Q	248;150	ENSP00000297625:R248Q;ENSP00000368437:R150Q	ENSP00000297625:R248Q	R	-	2	0	KIAA1161	34362097	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.928000	0.70088	2.894000	0.99253	0.655000	0.94253	CGA		0.662	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1		XM_351807		7	35	0	0	0	0.00308	0	7	35		
C9orf131	138724	broad.mit.edu	37	9	35044993	35044993	+	Silent	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:35044993C>G	ENST00000312292.5	+	2	2414	c.2367C>G	c.(2365-2367)ctC>ctG	p.L789L	C9orf131_ENST00000354479.5_Silent_p.L716L|C9orf131_ENST00000421362.2_Silent_p.L741L|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	789										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGCTGAAACTCAGGCTGAAGA	0.567																																						uc003zvw.2		NaN																	0					0						c.(2365-2367)CTC>CTG		hypothetical protein LOC138724 isoform A							103.0	109.0	107.0					9																	35044993		2203	4300	6503	SO:0001819	synonymous_variant	138724							g.chr9:35044993C>G	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2367C>G	9.37:g.35044993C>G						C9orf131_uc003zvu.2_Silent_p.L741L|C9orf131_uc003zvv.2_Silent_p.L716L|C9orf131_uc003zvx.2_Silent_p.L754L	p.L789L	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	2396	+	all_epithelial(49;0.22)		789					A6NLE6|E9PB26|Q86XC6|Q9UF74	Silent	SNP	ENST00000312292.5	37	c.2367C>G	CCDS6572.2																																																																																				0.567	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5		NM_203299		103	173	0	0	0	0.01441	0	103	173		
TLN1	7094	broad.mit.edu	37	9	35697854	35697854	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:35697854C>T	ENST00000314888.9	-	57	7913	c.7560G>A	c.(7558-7560)aaG>aaA	p.K2520K	TLN1_ENST00000540444.1_Silent_p.K2408K	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2520	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGCCAGTTTCTTCCGCGCCT	0.532											OREG0019174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zxt.2		NaN																	0				lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(7558-7560)AAG>AAA		talin 1							94.0	89.0	91.0					9																	35697854		2203	4300	6503	SO:0001819	synonymous_variant	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35697854C>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.7560G>A	9.37:g.35697854C>T			OREG0019174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	857		p.K2520K	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		57	7914	-	all_epithelial(49;0.167)		2520			I/LWEQ.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	c.7560G>A	CCDS35009.1																																																																																				0.532	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2		NM_006289		14	64	0	0	0	0.016723	0	14	64		
TJP2	9414	broad.mit.edu	37	9	71844146	71844146	+	Silent	SNP	T	T	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:71844146T>G	ENST00000377245.4	+	10	1708	c.1500T>G	c.(1498-1500)ccT>ccG	p.P500P	TJP2_ENST00000535702.1_Silent_p.P504P|TJP2_ENST00000265384.7_Silent_p.P500P|TJP2_ENST00000453658.2_Silent_p.P477P|TJP2_ENST00000539225.1_Silent_p.P531P|TJP2_ENST00000348208.4_Silent_p.P500P	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	500					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GTCCTAGTCCTGAAGATGAAG	0.423																																						uc004ahe.2		NaN																	0					0						c.(1498-1500)CCT>CCG		tight junction protein 2 (zona occludens 2)							244.0	222.0	229.0					9																	71844146		2203	4300	6503	SO:0001819	synonymous_variant	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71844146T>G	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1500T>G	9.37:g.71844146T>G						TJP2_uc011lrs.1_Silent_p.P477P|TJP2_uc011lrt.1_Silent_p.P477P|TJP2_uc004ahd.2_Silent_p.P500P|TJP2_uc004ahf.2_Silent_p.P500P|TJP2_uc011lru.1_Silent_p.P504P|TJP2_uc011lrv.1_Silent_p.P522P	p.P500P	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN			10	1700	+			500					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Silent	SNP	ENST00000377245.4	37	c.1500T>G	CCDS6627.1																																																																																				0.423	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2		NM_201629		66	55	0	0	0	0.01441	0	66	55		
TRPM6	140803	broad.mit.edu	37	9	77377272	77377272	+	Missense_Mutation	SNP	G	G	A	rs144291419		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:77377272G>A	ENST00000360774.1	-	26	4552	c.4315C>T	c.(4315-4317)Cct>Tct	p.P1439S	TRPM6_ENST00000451710.3_Missense_Mutation_p.P1439S|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.P1439S|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.P1434S|TRPM6_ENST00000449912.2_Missense_Mutation_p.P1434S	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1439					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGGGAAAGAGGGGAGCTCATT	0.463																																						uc004ajl.1		NaN																	0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(4315-4317)CCT>TCT		transient receptor potential cation channel,		G	SER/PRO,SER/PRO,SER/PRO	0,4406		0,0,2203	112.0	104.0	107.0		4300,4300,4315	-0.7	0.1	9	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TRPM6	NM_001177310.1,NM_001177311.1,NM_017662.4	74,74,74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	1434/2018,1434/2018,1439/2023	77377272	1,13005	2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77377272G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4315C>T	9.37:g.77377272G>A	ENSP00000354006:p.Pro1439Ser					TRPM6_uc004ajk.1_Missense_Mutation_p.P1434S|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.P395S	p.P1439S	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			26	4553	-			1439			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.4315C>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	5.968	0.362610	0.11296	0.0	1.16E-4	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.52057	0.77;0.77;0.77;0.77;0.68	5.67	-0.702	0.11265	.	1.199790	0.05589	N	0.574286	T	0.30386	0.0763	N	0.19112	0.55	0.09310	N	1	B;B;B	0.14805	0.006;0.001;0.011	B;B;B	0.13407	0.004;0.003;0.009	T	0.23440	-1.0188	10	0.46703	T	0.11	.	4.2188	0.10547	0.1931:0.4272:0.2788:0.1009	.	1439;1434;1434	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	S	1439;1439;1434;1434;1439;1102;1102	ENSP00000354006:P1439S;ENSP00000407341:P1439S;ENSP00000396672:P1434S;ENSP00000354962:P1434S;ENSP00000366060:P1439S	ENSP00000309693:P1102S	P	-	1	0	TRPM6	76567092	0.006000	0.16342	0.100000	0.21137	0.015000	0.08874	-0.358000	0.07641	-0.169000	0.10834	-0.150000	0.13652	CCT		0.463	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1		NM_017662		25	69	0	0	0	0.004656	0	25	69		
PCSK5	5125	broad.mit.edu	37	9	78784732	78784732	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:78784732C>T	ENST00000545128.1	+	13	2270	c.1732C>T	c.(1732-1734)Cag>Tag	p.Q578*	PCSK5_ENST00000376767.3_Nonsense_Mutation_p.Q578*|PCSK5_ENST00000376752.4_Nonsense_Mutation_p.Q578*	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	578					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TACTCCCTCTCAGCTAAGGAA	0.428																																						uc004ajz.2		NaN																	0				ovary(2)|skin(1)	3						c.(1732-1734)CAG>TAG		proprotein convertase subtilisin/kexin type 5							127.0	124.0	125.0					9																	78784732		2203	4300	6503	SO:0001587	stop_gained	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78784732C>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1732C>T	9.37:g.78784732C>T	ENSP00000446280:p.Gln578*					PCSK5_uc004ajy.2_Nonsense_Mutation_p.Q578*|PCSK5_uc004aka.2_RNA	p.Q578*	NM_006200	NP_006191	Q92824	PCSK5_HUMAN			13	2270	+			578			Homo B/P.		F5H2G7|Q13527|Q96EP4	Nonsense_Mutation	SNP	ENST00000545128.1	37	c.1732C>T	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	C	37	6.167566	0.97343	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376767;ENST00000396108;ENST00000376752;ENST00000424854	.	.	.	5.78	5.78	0.91487	.	0.048734	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-20.1189	20.0175	0.97485	0.0:1.0:0.0:0.0	.	.	.	.	X	578;281;578;578;578;251	.	ENSP00000365943:Q578X	Q	+	1	0	PCSK5	77974552	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	7.442000	0.80503	2.730000	0.93505	0.650000	0.86243	CAG		0.428	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					51	89	0	0	0	0.01441	0	51	89		
BICD2	23299	broad.mit.edu	37	9	95477535	95477535	+	Splice_Site	SNP	G	G	A	rs199989045		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:95477535G>A	ENST00000375512.3	-	7	2536	c.2469C>T	c.(2467-2469)agC>agT	p.S823S	BICD2_ENST00000356884.6_Silent_p.S823S	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	823					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGTGACTTACGCTCGGTGTGG	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		16802	0.001		0.0	False		,,,				2504	0.0					uc004aso.1		NaN																	0				skin(1)	1						c.(2467-2469)AGC>AGT		bicaudal D homolog 2 isoform 2							46.0	40.0	42.0					9																	95477535		2203	4299	6502	SO:0001630	splice_region_variant	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95477535G>A	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.2469+1C>T	9.37:g.95477535G>A						BICD2_uc004asp.1_Silent_p.S823S	p.S823S	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN			7	2526	-			823					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Silent	SNP	ENST00000375512.3	37	c.2469C>T	CCDS6700.1																																																																																				0.652	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1		NM_015250	Silent	5	4	0	0	0	0.00308	0	5	4		
PTCH1	5727	broad.mit.edu	37	9	98221997	98221997	+	Silent	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:98221997C>A	ENST00000331920.6	-	17	3071	c.2772G>T	c.(2770-2772)acG>acT	p.T924T	PTCH1_ENST00000375274.2_Silent_p.T923T|PTCH1_ENST00000437951.1_Silent_p.T858T|PTCH1_ENST00000418258.1_Silent_p.T773T|PTCH1_ENST00000421141.1_Silent_p.T773T|PTCH1_ENST00000429896.2_Silent_p.T773T|PTCH1_ENST00000430669.2_Silent_p.T858T	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	924					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|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 (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TGACCCAAGCCGTCAGGTAGA	0.552																																						uc004avk.3		NaN																	0				skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379						c.(2770-2772)ACG>ACT		patched isoform L							107.0	92.0	97.0					9																	98221997		2203	4300	6503	SO:0001819	synonymous_variant	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98221997C>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2772G>T	9.37:g.98221997C>A						PTCH1_uc010mro.2_Silent_p.T773T|PTCH1_uc010mrp.2_Silent_p.T773T|PTCH1_uc010mrq.2_Silent_p.T773T|PTCH1_uc004avl.3_Silent_p.T773T|PTCH1_uc010mrr.2_Silent_p.T858T|PTCH1_uc004avm.3_Silent_p.T923T	p.T924T	NM_000264	NP_000255	Q13635	PTC1_HUMAN			17	2960	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	924			Extracellular (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	ENST00000331920.6	37	c.2772G>T	CCDS6714.1																																																																																				0.552	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2		NM_000264		24	29	1	0	3.5997e-14	0.014323	3.83497e-14	24	29		
RP11-498P14.3	0	broad.mit.edu	37	9	99960733	99960733	+	lincRNA	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:99960733G>A	ENST00000416066.1	-	0	0																											ATCACATACAGTGTATTTATA	0.433																																						uc004axd.1		NaN																	0					0						c.(1060-1062)ACT>ATT		zinc finger protein 322B							50.0	73.0	67.0					9																	99960733		1464	4050	5514			387328							g.chr9:99960733G>A																													9.37:g.99960733G>A						uc004axb.2_5'Flank|ZNF322B_uc004axc.1_5'Flank|uc010msl.1_Intron	p.T354I	NM_199005	NP_945356					1	1178	-		Acute lymphoblastic leukemia(62;0.158)							Missense_Mutation	SNP	ENST00000416066.1	37	c.1061C>T		.	.	.	.	.	.	.	.	.	.	N	2.175	-0.389012	0.04932	.	.	ENSG00000188801	ENST00000375210	.	.	.	.	.	.	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.374521	0.23194	N	0.050878	T	0.26122	0.0637	.	.	.	0.28136	N	0.929998	B	0.02656	0.0	B	0.04013	0.001	T	0.16041	-1.0416	5	.	.	.	-5.5584	5.8178	0.18506	0.001:0.0:0.999:0.0	.	354	Q5SYY0	Z322B_HUMAN	I	354	.	.	T	-	2	0	ZNF322P1	99000554	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.830000	0.00355	-0.000000	0.14550	0.000000	0.15137	ACT		0.433	RP11-498P14.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053307.1				61	128	0	0	0	0.01441	0	61	128		
SMC2	10592	broad.mit.edu	37	9	106894304	106894304	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:106894304G>C	ENST00000286398.7	+	22	3294	c.3006G>C	c.(3004-3006)atG>atC	p.M1002I	SMC2_ENST00000303219.8_Missense_Mutation_p.M1002I|SMC2_ENST00000374793.3_Missense_Mutation_p.M1002I|SMC2_ENST00000374787.3_Missense_Mutation_p.M1002I	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1002					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						ATGACTTGATGAAGAAGAAGA	0.303																																						uc004bbv.2		NaN																	0				ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						c.(3004-3006)ATG>ATC		structural maintenance of chromosomes 2							53.0	55.0	54.0					9																	106894304		2203	4295	6498	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106894304G>C	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.3006G>C	9.37:g.106894304G>C	ENSP00000286398:p.Met1002Ile					SMC2_uc004bbw.2_Missense_Mutation_p.M1002I|SMC2_uc011lvl.1_Missense_Mutation_p.M1002I|SMC2_uc004bbx.2_Missense_Mutation_p.M1002I|SMC2_uc004bby.2_RNA	p.M1002I	NM_001042551	NP_001036016	O95347	SMC2_HUMAN			22	3294	+			1002			Potential.		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.3006G>C	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025369	0.54683	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.05925	3.37;3.37;3.37;3.37	6.17	5.28	0.74379	RecF/RecN/SMC (1);	0.070972	0.85682	D	0.000000	T	0.05318	0.0141	N	0.17278	0.47	0.45390	D	0.998374	B	0.24258	0.1	B	0.25405	0.06	T	0.45585	-0.9251	10	0.33940	T	0.23	-8.1812	13.4042	0.60900	0.0751:0.0:0.9249:0.0	.	1002	O95347	SMC2_HUMAN	I	1002	ENSP00000286398:M1002I;ENSP00000363925:M1002I;ENSP00000306152:M1002I;ENSP00000363919:M1002I	ENSP00000286398:M1002I	M	+	3	0	SMC2	105934125	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.940000	0.87693	1.637000	0.50538	0.655000	0.94253	ATG		0.303	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1				26	24	0	0	0	0.021523	0	26	24		
CRAT	1384	broad.mit.edu	37	9	131864786	131864786	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:131864786G>C	ENST00000318080.2	-	5	817	c.523C>G	c.(523-525)Cag>Gag	p.Q175E	CRAT_ENST00000464290.1_5'UTR|RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	175					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GACAAGATCTGATAGTACTGG	0.597																																						uc004bxh.2		NaN																	0				central_nervous_system(1)	1						c.(523-525)CAG>GAG		carnitine acetyltransferase precursor	L-Carnitine(DB00583)						241.0	227.0	232.0					9																	131864786		2203	4300	6503	SO:0001583	missense	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131864786G>C	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.523C>G	9.37:g.131864786G>C	ENSP00000315013:p.Gln175Glu					CRAT_uc004bxg.2_Missense_Mutation_p.Q154E|CRAT_uc004bxk.3_Missense_Mutation_p.Q154E	p.Q175E	NM_000755	NP_000746	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	5	805	-			175					Q5T952|Q9BW16	Missense_Mutation	SNP	ENST00000318080.2	37	c.523C>G	CCDS6919.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732173	0.48939	.	.	ENSG00000095321	ENST00000351352;ENST00000318080	D	0.88818	-2.43	5.09	5.09	0.68999	.	0.055071	0.85682	D	0.000000	D	0.86826	0.6026	L	0.52126	1.63	0.80722	D	1	B	0.16396	0.017	B	0.10450	0.005	D	0.83552	0.0102	10	0.51188	T	0.08	-30.9971	17.5379	0.87839	0.0:0.0:1.0:0.0	.	175	P43155	CACP_HUMAN	E	175	ENSP00000315013:Q175E	ENSP00000315013:Q175E	Q	-	1	0	CRAT	130904607	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.321000	0.72881	2.378000	0.81104	0.556000	0.70494	CAG		0.597	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1				89	170	0	0	0	0.01441	0	89	170		
DMD	1756	broad.mit.edu	37	X	32662325	32662325	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:32662325C>T	ENST00000357033.4	-	11	1461	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	DMD_ENST00000288447.4_Missense_Mutation_p.E411K|DMD_ENST00000378677.2_Missense_Mutation_p.E415K|MIR548F5_ENST00000408421.1_RNA	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	419					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTTGTACTTCAGTTTCTTCA	0.388																																						uc004dda.1		NaN																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(1255-1257)GAA>AAA		dystrophin Dp427m isoform							183.0	154.0	164.0					X																	32662325		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32662325C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1255G>A	X.37:g.32662325C>T	ENSP00000354923:p.Glu419Lys					DMD_uc004dcz.2_Missense_Mutation_p.E296K|DMD_uc004dcy.1_Missense_Mutation_p.E415K|DMD_uc004ddb.1_Missense_Mutation_p.E411K|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.E411K|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|MIR548F5_hsa-mir-548f-5|MI0006378_5'Flank	p.E419K	NM_004006	NP_003997	P11532	DMD_HUMAN			11	1499	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	419			Spectrin 1.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.1255G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	35	5.516098	0.96402	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.52295	0.67;0.67;0.67	5.83	5.83	0.93111	.	0.000000	0.35936	U	0.002891	T	0.72431	0.3459	M	0.81802	2.56	0.80722	D	1	B;D;P;D	0.76494	0.338;0.998;0.782;0.999	B;D;P;D	0.83275	0.282;0.994;0.799;0.996	T	0.75013	-0.3467	10	0.62326	D	0.03	.	19.1764	0.93604	0.0:1.0:0.0:0.0	.	411;411;419;415	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	K	411;415;419;419;296;411	ENSP00000367948:E415K;ENSP00000354923:E419K;ENSP00000288447:E411K	ENSP00000288447:E411K	E	-	1	0	DMD	32572246	1.000000	0.71417	0.999000	0.59377	0.808000	0.45660	7.815000	0.86186	2.480000	0.83734	0.591000	0.81541	GAA		0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2		NM_004006		134	24	0	0	0	0.01441	0	134	24		
FAM47A	158724	broad.mit.edu	37	X	34150089	34150089	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:34150089G>A	ENST00000346193.3	-	1	358	c.307C>T	c.(307-309)Cta>Tta	p.L103L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	103										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						TTGGAAAATAGGGCCGCTTTC	0.542																																						uc004ddg.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(307-309)CTA>TTA		hypothetical protein LOC158724							89.0	87.0	88.0					X																	34150089		2202	4300	6502	SO:0001819	synonymous_variant	158724							g.chrX:34150089G>A	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.307C>T	X.37:g.34150089G>A							p.L103L	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	340	-			103					A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.307C>T	CCDS43926.1																																																																																				0.542	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1		NM_203408		94	14	0	0	0	0.01441	0	94	14		
CXorf22	170063	broad.mit.edu	37	X	35959432	35959432	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:35959432C>G	ENST00000297866.5	+	3	500	c.434C>G	c.(433-435)tCa>tGa	p.S145*		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	145										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GAAATTGAATCAGTAGTTAAT	0.358																																						uc004ddj.2		NaN																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(433-435)TCA>TGA		hypothetical protein LOC170063							58.0	57.0	57.0					X																	35959432		2202	4295	6497	SO:0001587	stop_gained	170063							g.chrX:35959432C>G	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.434C>G	X.37:g.35959432C>G	ENSP00000297866:p.Ser145*					CXorf22_uc010ngv.2_RNA	p.S145*	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			3	493	+			145					Q5JRM8|Q8N6X8	Nonsense_Mutation	SNP	ENST00000297866.5	37	c.434C>G	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416703	0.42918	.	.	ENSG00000165164	ENST00000297866	.	.	.	5.61	4.73	0.59995	.	1.012140	0.07903	N	0.973028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-21.0383	12.1724	0.54165	0.1706:0.8294:0.0:0.0	.	.	.	.	X	145	.	ENSP00000297866:S145X	S	+	2	0	CXorf22	35869353	0.490000	0.26012	0.034000	0.17996	0.004000	0.04260	2.530000	0.45641	1.077000	0.40990	0.538000	0.68166	TCA		0.358	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2		NM_152632		29	52	0	0	0	0.009535	0	29	52		
PLP2	5355	broad.mit.edu	37	X	49029745	49029745	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:49029745G>A	ENST00000376327.5	+	3	335	c.260G>A	c.(259-261)cGa>cAa	p.R87Q	PLP2_ENST00000376322.3_Missense_Mutation_p.R87Q	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	87	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine binding (GO:0019956)|ion transmembrane transporter activity (GO:0015075)			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						GATTTCTTCCGAACCCTCATA	0.532																																						uc004dmx.2		NaN																	0					0						c.(259-261)CGA>CAA		proteolipid protein 2 (colonic							135.0	105.0	115.0					X																	49029745		2203	4300	6503	SO:0001583	missense	5355				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity	g.chrX:49029745G>A	L09604	CCDS14319.1	Xp11.23	2008-08-01			ENSG00000102007	ENSG00000102007			9087	protein-coding gene	gene with protein product	"""A4 differentiation-dependent protein"""	300112				8470895, 7622043	Standard	NM_002668		Approved	A4, A4-LSB, MGC126187	uc004dmx.3	Q04941	OTTHUMG00000021513	ENST00000376327.5:c.260G>A	X.37:g.49029745G>A	ENSP00000365505:p.Arg87Gln						p.R87Q	NM_002668	NP_002659	Q04941	PLP2_HUMAN			3	335	+			87			Helical; (Potential).|MARVEL.		A6NDT7|Q32MM8	Missense_Mutation	SNP	ENST00000376327.5	37	c.260G>A	CCDS14319.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733893	0.89482	.	.	ENSG00000102007	ENST00000376322;ENST00000376327	T;T	0.25579	1.79;1.79	5.34	4.48	0.54585	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.45895	0.1365	M	0.85859	2.78	0.47905	D	0.999545	D	0.71674	0.998	P	0.54856	0.762	T	0.51671	-0.8676	10	0.62326	D	0.03	-18.2603	11.1146	0.48254	0.0:0.1817:0.8183:0.0	.	87	Q04941	PLP2_HUMAN	Q	87	ENSP00000365500:R87Q;ENSP00000365505:R87Q	ENSP00000365500:R87Q	R	+	2	0	PLP2	48916689	1.000000	0.71417	0.995000	0.50966	0.894000	0.52154	6.508000	0.73721	1.025000	0.39708	0.594000	0.82650	CGA		0.532	PLP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056540.1		NM_002668		31	47	0	0	0	0.015359	0	31	47		
CCNB3	85417	broad.mit.edu	37	X	50031856	50031856	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:50031856A>G	ENST00000376042.1	+	4	471	c.173A>G	c.(172-174)aAa>aGa	p.K58R	CCNB3_ENST00000376038.1_Missense_Mutation_p.K58R|CCNB3_ENST00000348603.2_Missense_Mutation_p.K58R|CCNB3_ENST00000276014.7_Missense_Mutation_p.K58R			Q8WWL7	CCNB3_HUMAN	cyclin B3	58					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GGAGCACTCAAAAAGAGATCA	0.413																																						uc004dox.3		NaN																	0				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(172-174)AAA>AGA		cyclin B3 isoform 3							78.0	69.0	72.0					X																	50031856		2202	4299	6501	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50031856A>G	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.173A>G	X.37:g.50031856A>G	ENSP00000365210:p.Lys58Arg					CCNB3_uc004doy.2_Missense_Mutation_p.K58R|CCNB3_uc004doz.2_Missense_Mutation_p.K58R|CCNB3_uc010njq.2_5'UTR	p.K58R	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			4	471	+	Ovarian(276;0.236)		58					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.173A>G	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.792907	0.31685	.	.	ENSG00000147082	ENST00000376042;ENST00000376038;ENST00000348603;ENST00000396540;ENST00000276014	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	4.61	2.13	0.27403	.	.	.	.	.	T	0.12603	0.0306	L	0.60455	1.87	0.09310	N	1	P;P	0.47841	0.461;0.901	B;B	0.40565	0.135;0.333	T	0.19647	-1.0299	8	.	.	.	.	3.8372	0.08899	0.6668:0.217:0.1162:0.0	.	58;58	Q8WWL7-2;Q8WWL7	.;CCNB3_HUMAN	R	58	ENSP00000365210:K58R;ENSP00000365206:K58R;ENSP00000338682:K58R;ENSP00000276014:K58R	.	K	+	2	0	CCNB3	50048596	0.992000	0.36948	0.160000	0.22671	0.322000	0.28314	1.245000	0.32790	0.148000	0.19059	0.483000	0.47432	AAA		0.413	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1				19	3	0	0	0	0.006122	0	19	3		
KIAA2022	340533	broad.mit.edu	37	X	73962682	73962682	+	Missense_Mutation	SNP	C	C	G	rs191123918		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:73962682C>G	ENST00000055682.6	-	3	2321	c.1710G>C	c.(1708-1710)ttG>ttC	p.L570F		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	570					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GATTCTCACTCAAATTCACTG	0.418																																						uc004eby.2		NaN																	0				ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(1708-1710)TTG>TTC		hypothetical protein LOC340533							136.0	113.0	121.0					X																	73962682		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73962682C>G		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1710G>C	X.37:g.73962682C>G	ENSP00000055682:p.Leu570Phe						p.L570F	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	2327	-			570					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.1710G>C	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963350	0.53507	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.63744	-0.06;-0.06	5.83	5.83	0.93111	.	0.150067	0.46145	D	0.000311	T	0.79257	0.4415	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80674	-0.1277	10	0.87932	D	0	-4.5869	19.1122	0.93321	0.0:1.0:0.0:0.0	.	570	Q5QGS0	K2022_HUMAN	F	570	ENSP00000362567:L570F;ENSP00000055682:L570F	ENSP00000055682:L570F	L	-	3	2	KIAA2022	73879407	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.298000	0.33412	2.463000	0.83235	0.600000	0.82982	TTG		0.418	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2		NM_001008537		39	56	0	0	0	0.007835	0	39	56		
STAG2	10735	broad.mit.edu	37	X	123190029	123190029	+	Silent	SNP	G	G	T	rs142571900		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:123190029G>T	ENST00000371160.1	+	14	1538	c.1248G>T	c.(1246-1248)ctG>ctT	p.L416L	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.L416L|STAG2_ENST00000371157.3_Silent_p.L416L|STAG2_ENST00000371144.3_Silent_p.L416L|STAG2_ENST00000354548.5_Silent_p.L347L|STAG2_ENST00000371145.3_Silent_p.L416L	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	416					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TCTATCATCTGGTTTATTCAG	0.368																																						uc004etz.3		NaN																	0				ovary(4)|skin(1)	5						c.(1246-1248)CTG>CTT		stromal antigen 2 isoform b							104.0	96.0	98.0					X																	123190029		2203	4300	6503	SO:0001819	synonymous_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123190029G>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1248G>T	X.37:g.123190029G>T						STAG2_uc004eua.2_Silent_p.L416L|STAG2_uc004eub.2_Silent_p.L416L|STAG2_uc004euc.2_Silent_p.L416L|STAG2_uc004eud.2_Silent_p.L416L|STAG2_uc004eue.2_Silent_p.L416L	p.L416L	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			13	1587	+			416					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Silent	SNP	ENST00000371160.1	37	c.1248G>T	CCDS14607.1																																																																																				0.368	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2		NM_006603		37	53	1	0	3.43241e-23	0.009718	3.78029e-23	37	53		
DCAF12L1	139170	broad.mit.edu	37	X	125686323	125686323	+	Missense_Mutation	SNP	C	C	T	rs370562344		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:125686323C>T	ENST00000371126.1	-	1	511	c.269G>A	c.(268-270)cGc>cAc	p.R90H		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	90										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTCCAGTTGGCGCTCCGTCAG	0.662																																						uc004eul.2		NaN																	0				skin(3)|ovary(1)	4						c.(268-270)CGC>CAC		DDB1 and CUL4 associated factor 12-like 1		C	HIS/ARG	1,3834		0,1,1631,571	74.0	60.0	65.0		269	0.7	0.0	X		65	0,6728		0,0,2428,1872	no	missense	DCAF12L1	NM_178470.4	29	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	probably-damaging	90/464	125686323	1,10562	2203	4300	6503	SO:0001583	missense	139170							g.chrX:125686323C>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.269G>A	X.37:g.125686323C>T	ENSP00000360167:p.Arg90His						p.R90H	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	520	-			90					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.269G>A	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	c	9.650	1.141309	0.21205	2.61E-4	0.0	ENSG00000198889	ENST00000371126	T	0.42513	0.97	3.54	0.68	0.17980	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.32041	0.0816	L	0.54323	1.7	0.22240	N	0.999263	B	0.28850	0.225	B	0.20184	0.028	T	0.20075	-1.0286	9	0.46703	T	0.11	.	5.0844	0.14675	0.0:0.6092:0.1702:0.2206	.	90	Q5VU92	DC121_HUMAN	H	90	ENSP00000360167:R90H	ENSP00000360167:R90H	R	-	2	0	DCAF12L1	125514004	1.000000	0.71417	0.002000	0.10522	0.364000	0.29643	3.659000	0.54489	0.018000	0.15052	0.498000	0.49722	CGC		0.662	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1		NM_178470		16	24	0	0	0	0.00499	0	16	24		
MCF2	4168	broad.mit.edu	37	X	138672035	138672035	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:138672035C>G	ENST00000370576.4	-	20	2538	c.2329G>C	c.(2329-2331)Gaa>Caa	p.E777Q	MCF2_ENST00000520602.1_Missense_Mutation_p.E837Q|MCF2_ENST00000414978.1_Missense_Mutation_p.E837Q|MCF2_ENST00000519895.1_Missense_Mutation_p.E853Q|MCF2_ENST00000370573.4_Missense_Mutation_p.E777Q|MCF2_ENST00000370578.4_Missense_Mutation_p.E922Q|MCF2_ENST00000338585.6_Missense_Mutation_p.E793Q|MCF2_ENST00000536274.1_Missense_Mutation_p.E738Q	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	777	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TACCAGATTTCAAACTTGCGG	0.318																																						uc004fau.2		NaN																	0				lung(1)|pleura(1)	2						c.(2329-2331)GAA>CAA		MCF.2 cell line derived transforming sequence							71.0	66.0	68.0					X																	138672035		2203	4296	6499	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138672035C>G		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2329G>C	X.37:g.138672035C>G	ENSP00000359608:p.Glu777Gln					MCF2_uc004fav.2_Missense_Mutation_p.E793Q|MCF2_uc011mwl.1_Missense_Mutation_p.E754Q|MCF2_uc010nsh.1_Missense_Mutation_p.E777Q|MCF2_uc011mwm.1_Missense_Mutation_p.E738Q|MCF2_uc011mwn.1_Missense_Mutation_p.E922Q|MCF2_uc004faw.2_Missense_Mutation_p.E837Q|MCF2_uc011mwo.1_Missense_Mutation_p.E853Q	p.E777Q	NM_005369	NP_005360	P10911	MCF2_HUMAN			20	2623	-	Acute lymphoblastic leukemia(192;0.000127)		777			PH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.2329G>C	CCDS14667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.818552|4.818552	0.90790|0.90790	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585|ENST00000437564	T;T;T;T;T;T;T;T;T|.	0.13196|.	2.61;2.61;2.61;2.61;2.61;2.61;2.61;2.61;2.61|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.88190|.	0.6370|.	H|H	0.95884|0.95884	3.735|3.735	0.58432|0.58432	D|D	0.999993|0.999993	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.97110|.	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0|.	D|.	0.91606|.	0.5299|.	10|.	0.72032|.	D|.	0.01|.	.|.	18.1417|18.1417	0.89642|0.89642	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	853;922;738;777;777;922;793;777|.	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911|.	.;.;.;.;.;.;.;MCF2_HUMAN|.	Q|S	837;777;738;922;837;380;853;777;793|280	ENSP00000427745:E837Q;ENSP00000359608:E777Q;ENSP00000438155:E738Q;ENSP00000359610:E922Q;ENSP00000397055:E837Q;ENSP00000405848:E380Q;ENSP00000430276:E853Q;ENSP00000359605:E777Q;ENSP00000342204:E793Q|.	ENSP00000342204:E793Q|.	E|X	-|-	1|2	0|2	MCF2|MCF2	138499701|138499701	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	7.774000|7.774000	0.85478|0.85478	2.508000|2.508000	0.84585|0.84585	0.544000|0.544000	0.68410|0.68410	GAA|TGA		0.318	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1		NM_005369		26	50	0	0	0	0.021523	0	26	50		
TCHHL1	126637	broad.mit.edu	37	1	152059043	152059044	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:152059043_152059044insG	ENST00000368806.1	-	3	1178_1179	c.1114_1115insC	c.(1114-1116)ctgfs	p.L372fs		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	372							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTGGACTGGCAGGTCCTTTGTT	0.465																																						uc001ezo.1		NaN																	0				ovary(1)|skin(1)	2						c.(1114-1116)CTGfs		trichohyalin-like 1																																				SO:0001589	frameshift_variant	126637						calcium ion binding	g.chr1:152059043_152059044insG		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1115dupC	1.37:g.152059045_152059045dupG	ENSP00000357796:p.Leu372fs						p.L372fs	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	1179_1180	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		372					B2RPK8|Q5VTJ9	Frame_Shift_Ins	INS	ENST00000368806.1	37	c.1114_1115insC	CCDS30857.1																																																																																				0.465	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2		XM_060104		7	949	NaN	NaN	NaN	NaN	NaN	7	949	---	---
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome																													uc001fes.2		NaN																	0					0						c.(106-108)GAAdel		HCLS1 associated protein X-1 isoform a			,	145,4121		1,143,1989					,	-10.8	0.2			60	303,7951		0,303,3824	no	coding,intron	HAX1	NM_006118.3,NM_001018837.1	,	1,446,5813	A1A1,A1R,RR		3.6709,3.399,3.5783	,	,		448,12072				SO:0001651	inframe_deletion	10456	Kostmann_syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154245864_154245866delGAA	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.106_108delGAA	1.37:g.154245873_154245875delGAA	ENSP00000329002:p.Glu40del					HAX1_uc001fet.2_Intron|HAX1_uc010peo.1_In_Frame_Del_p.E40del|HAX1_uc009wou.2_5'UTR|HAX1_uc009wov.2_In_Frame_Del_p.E14del	p.E40del	NM_006118	NP_006109	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	267_269	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		40			Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	In_Frame_Del	DEL	ENST00000328703.7	37	c.106_108delGAA	CCDS1064.1																																																																																				0.522	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1		NM_006118		9	176	NaN	NaN	NaN	NaN	NaN	9	176	---	---
NXF1	10482	broad.mit.edu	37	11	62560155	62560157	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:62560155_62560157delGTT	ENST00000532297.1	-	21	2406_2408	c.1777_1779delAAC	c.(1777-1779)aacdel	p.N593del	NXF1_ENST00000533048.1_5'UTR|TMEM223_ENST00000527073.1_5'Flank|TMEM223_ENST00000307366.7_5'Flank|NXF1_ENST00000294172.2_In_Frame_Del_p.N593del|NXF1_ENST00000531709.2_3'UTR|TMEM223_ENST00000525631.1_5'Flank			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	593	TAP-C. {ECO:0000255|PROSITE- ProRule:PRU00611}.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTAGTCCCAGTTGTTGTCCTGA	0.502																																						uc001nvf.1		NaN																	0				skin(3)	3						c.(1777-1779)AACdel		nuclear RNA export factor 1 isoform 1																																				SO:0001651	inframe_deletion	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62560155_62560157delGTT	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1777_1779delAAC	11.37:g.62560158_62560160delGTT	ENSP00000436679:p.Asn593del					TMEM223_uc001nve.2_5'Flank|NXF1_uc001nvg.1_3'UTR	p.N593del	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN			20	1913_1915	-			593			TAP-C.		B4E269|Q99799|Q9UQL2	In_Frame_Del	DEL	ENST00000532297.1	37	c.1777_1779delAAC	CCDS8037.1																																																																																				0.502	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2		NM_006362		22	67	NaN	NaN	NaN	NaN	NaN	22	67	---	---
NCAM1	4684	broad.mit.edu	37	11	113102975	113102975	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:113102975delC	ENST00000533760.1	+	10	1539	c.940delC	c.(940-942)cccfs	p.P314fs	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Frame_Shift_Del_p.P432fs|NCAM1_ENST00000401611.2_Frame_Shift_Del_p.P441fs	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	442	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ATTTGCCTATCCCAGTGCCAC	0.517																																						uc009yyq.1		NaN																	0				ovary(1)	1						c.(1048-1050)CCCfs		neural cell adhesion molecule 1 isoform 3							71.0	71.0	71.0					11																	113102975		2003	4180	6183	SO:0001589	frameshift_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113102975delC		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.940delC	11.37:g.113102975delC	ENSP00000473281:p.Pro314fs						p.P350fs	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	12	1742	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	442			Ig-like C2-type 5.|Extracellular (Potential).		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Frame_Shift_Del	DEL	ENST00000533760.1	37	c.1048delC																																																																																					0.517	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2		NM_000615		17	36	NaN	NaN	NaN	NaN	NaN	17	36	---	---
KMT2D	8085	broad.mit.edu	37	12	49427929	49427933	+	Frame_Shift_Del	DEL	CGGCC	CGGCC	-			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08			CGGCC	-	CGGCC	CGGCC		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:49427929_49427933delCGGCC	ENST00000301067.7	-	38	10656_10660	c.10657_10661delGGCCG	c.(10657-10662)ggccgtfs	p.GR3553fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3553	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G3283D(1)|p.G3553D(1)									TGGGAACTCACGGCCAGCTTTTTTG	0.541																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		endometrium(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(10657-10662)GGCCGTfs		myeloid/lymphoid or mixed-lineage leukemia 2																																				SO:0001589	frameshift_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49427929_49427933delCGGCC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10657_10661delGGCCG	12.37:g.49427929_49427933delCGGCC	ENSP00000301067:p.Gly3553fs	HNSCC(34;0.089)					p.G3553fs	NM_003482	NP_003473	O14686	MLL2_HUMAN			38	10657_10661	-			3553_3554			Gln-rich.		O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.10657_10661delGGCCG	CCDS44873.1																																																																																				0.541	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				38	60	NaN	NaN	NaN	NaN	NaN	38	60	---	---
FANCM	57697	broad.mit.edu	37	14	45623913	45623913	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr14:45623913delA	ENST00000267430.5	+	7	1282	c.1197delA	c.(1195-1197)tcafs	p.S399fs	FANCM_ENST00000542564.2_Frame_Shift_Del_p.S373fs|FANCM_ENST00000556036.1_Frame_Shift_Del_p.S399fs	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	399					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGACACGGTCAAAAAATGAAC	0.289								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.3		NaN																	0				ovary(3)|lung(2)|breast(2)	7						c.(1195-1197)TCAfs	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							72.0	71.0	71.0					14																	45623913		2203	4300	6503	SO:0001589	frameshift_variant	57697	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45623913delA	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1197delA	14.37:g.45623913delA	ENSP00000267430:p.Ser399fs					FANCM_uc001wwc.2_Frame_Shift_Del_p.S399fs|FANCM_uc010anf.2_Frame_Shift_Del_p.S373fs|FANCM_uc001wwe.3_Frame_Shift_Del_p.S4fs	p.S399fs	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			7	1296	+			399					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Frame_Shift_Del	DEL	ENST00000267430.5	37	c.1197delA	CCDS32070.1																																																																																				0.289	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1		XM_048128		34	39	NaN	NaN	NaN	NaN	NaN	34	39	---	---
UFSP2	55325	broad.mit.edu	37	4	186329155	186329156	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:186329155_186329156insTG	ENST00000264689.6	-	9	1171_1172	c.1055_1056insCA	c.(1054-1056)ggafs	p.G352fs		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	352						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		CCTCAATAGATCCAATCCATTG	0.391																																						uc003ixo.2		NaN																	0					0						c.(1054-1056)GGAfs		UFM1-specific peptidase 2																																				SO:0001589	frameshift_variant	55325					endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity	g.chr4:186329155_186329156insTG	AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"""chromosome 4 open reading frame 20"""	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.1055_1056insCA	4.37:g.186329155_186329156insTG	ENSP00000264689:p.Gly352fs					UFSP2_uc003ixn.2_Frame_Shift_Ins_p.G227fs|UFSP2_uc003ixq.2_Frame_Shift_Ins_p.G242fs|UFSP2_uc003ixp.2_RNA	p.G352fs	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	9	1172_1173	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	352					Q6IA77|Q96FS3	Frame_Shift_Ins	INS	ENST00000264689.6	37	c.1055_1056insCA	CCDS3842.1																																																																																				0.391	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2		NM_018359		23	45	NaN	NaN	NaN	NaN	NaN	23	45	---	---
UBLCP1	134510	broad.mit.edu	37	5	158702181	158702183	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:158702181_158702183delATT	ENST00000296786.6	+	8	937_939	c.611_613delATT	c.(610-615)aattat>aat	p.Y205del		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	205	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.|Phosphatase.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAAATGCAAATTATAAGATTAC	0.325																																						uc003lxq.2		NaN																	0				ovary(1)	1						c.(610-615)AATTAT>AAT		ubiquitin-like domain containing CTD phosphatase																																				SO:0001651	inframe_deletion	134510					nucleus	phosphoprotein phosphatase activity	g.chr5:158702181_158702183delATT	AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	28110	protein-coding gene	gene with protein product	"""CTD phosphatase-like with ubiquitin domain 1"""	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.611_613delATT	5.37:g.158702181_158702183delATT	ENSP00000296786:p.Tyr205del						p.Y205del	NM_145049	NP_659486	Q8WVY7	UBCP1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	937_939	+	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	205			FCP1 homology.		D3DQJ7|Q96DK5	In_Frame_Del	DEL	ENST00000296786.6	37	c.611_613delATT	CCDS4345.1																																																																																				0.325	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2		NM_145049		24	61	NaN	NaN	NaN	NaN	NaN	24	61	---	---
POM121	9883	broad.mit.edu	37	7	72410394	72410395	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:72410394_72410395delAC	ENST00000434423.2	+	8	1450_1451	c.1450_1451delAC	c.(1450-1452)acafs	p.T485fs	POM121_ENST00000257622.4_Frame_Shift_Del_p.T220fs|POM121_ENST00000395270.1_Frame_Shift_Del_p.T220fs|POM121_ENST00000358357.3_Frame_Shift_Del_p.T220fs|POM121_ENST00000446813.1_Frame_Shift_Del_p.T220fs			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	485	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGCTGCAGATACAACCCCAAGG	0.48																																						uc003twk.2		NaN																	0					0						c.(1450-1452)ACAfs		nuclear pore membrane protein 121																																				SO:0001589	frameshift_variant	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72410394_72410395delAC	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1450_1451delAC	7.37:g.72410394_72410395delAC	ENSP00000405562:p.Thr485fs					POM121_uc003twj.2_Frame_Shift_Del_p.T219fs|POM121_uc010lam.1_Frame_Shift_Del_p.T219fs	p.T484fs	NM_172020	NP_742017	Q96HA1	P121A_HUMAN			8	1450_1451	+		Lung NSC(55;0.163)	484			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Frame_Shift_Del	DEL	ENST00000434423.2	37	c.1450_1451delAC																																																																																					0.480	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1				115	181	NaN	NaN	NaN	NaN	NaN	115	181	---	---
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-	rs139076845		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:41798420_41798422delCTC	ENST00000396930.3	-	16	3520_3522	c.2977_2979delGAG	c.(2977-2979)gagdel	p.E993del	KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	993	Poly-Glu.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GGCTTTCCGGCTCCTCCTCCTCC	0.567																																						uc010lxb.2		NaN																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(2977-2979)GAGdel		MYST histone acetyltransferase (monocytic																																				SO:0001651	inframe_deletion	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41798420_41798422delCTC	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2977_2979delGAG	8.37:g.41798429_41798431delCTC	ENSP00000380136:p.Glu993del					MYST3_uc010lxc.2_In_Frame_Del_p.E993del|MYST3_uc003xon.3_In_Frame_Del_p.E993del	p.E993del	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		16	3521_3523	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	993			Poly-Glu.		Q76L81	In_Frame_Del	DEL	ENST00000396930.3	37	c.2977_2979delGAG	CCDS6124.1																																																																																				0.567	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1		NM_006766		10	434	NaN	NaN	NaN	NaN	NaN	10	434	---	---
AGO2	27161	broad.mit.edu	37	8	141549532	141549532	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:141549532delC	ENST00000220592.5	-	16	2168	c.2056delG	c.(2056-2058)gccfs	p.A686fs	AGO2_ENST00000519980.1_Frame_Shift_Del_p.A686fs	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	686	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										TCACGGATGGCCAGCAACTCG	0.572																																						uc003yvn.2		NaN																	0					0						c.(2056-2058)GCCfs		argonaute 2 isoform 1							87.0	77.0	80.0					8																	141549532		2203	4300	6503	SO:0001589	frameshift_variant	27161				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity	g.chr8:141549532delC	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.2056delG	8.37:g.141549532delC	ENSP00000220592:p.Ala686fs					EIF2C2_uc010men.2_Frame_Shift_Del_p.A609fs|EIF2C2_uc010meo.2_Frame_Shift_Del_p.A686fs	p.A686fs	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.158)		16	2096	-	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	686			Piwi.		Q8TCZ5|Q8WV58|Q96ID1	Frame_Shift_Del	DEL	ENST00000220592.5	37	c.2056delG	CCDS6380.1																																																																																				0.572	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4				25	112	NaN	NaN	NaN	NaN	NaN	25	112	---	---
