#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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MIIP	60672	broad.mit.edu	37	1	12082418	12082418	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:12082418C>A	ENST00000235332.4	+	3	550	c.381C>A	c.(379-381)ccC>ccA	p.P127P	MIIP_ENST00000436478.2_Silent_p.P127P|MIIP_ENST00000466860.1_3'UTR|Y_RNA_ENST00000365591.1_RNA	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	127										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						ACCCAGAGCCCTCAGGGAGGC	0.657																																						ENST00000235332.4																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						c.(379-381)ccC>ccA		migration and invasion inhibitory protein							26.0	27.0	27.0					1																	12082418		2203	4300	6503	SO:0001819	synonymous_variant	60672							g.chr1:12082418C>A	AK022500	CCDS143.1	1p36.22	2009-07-09			ENSG00000116691	ENSG00000116691			25715	protein-coding gene	gene with protein product	"""invasion inhibitory protein 45"""	608772				15867349, 14617774	Standard	NM_021933		Approved	FLJ12438, IIp45	uc001ato.2	Q5JXC2	OTTHUMG00000002439	ENST00000235332.4:c.381C>A	1.37:g.12082418C>A						MIIP_ENST00000436478.2_Silent_p.P127P|MIIP_ENST00000466860.1_3'UTR	p.P127P	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN			3	550	+			127					C0KL22|Q96HU6|Q9H839|Q9HA00	Silent	SNP	ENST00000235332.4	37	c.381C>A	CCDS143.1																																																																																				0.657	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006941.1	NM_021933		4	72	4	72	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12422900	12422900	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:12422900G>T	ENST00000358136.3	+	51	10396	c.10266G>T	c.(10264-10266)agG>agT	p.R3422S	VPS13D_ENST00000356315.4_Missense_Mutation_p.R3397S	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AATTTGCCAGGGGACAGGTGA	0.433																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(10264-10266)agG>agT		vacuolar protein sorting 13 homolog D (S. cerevisiae)							167.0	162.0	164.0					1																	12422900		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12422900G>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10266G>T	1.37:g.12422900G>T	ENSP00000350854:p.Arg3422Ser					VPS13D_ENST00000356315.4_Missense_Mutation_p.R3397S	p.R3422S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	51	10396	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3421						Missense_Mutation	SNP	ENST00000358136.3	37	c.10266G>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.36|11.36	1.614673|1.614673	0.28712|0.28712	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.31247	.|1.5;1.5	5.7|5.7	1.78|1.78	0.24846|0.24846	.|Vacuolar protein sorting-associated protein (1);	.|0.084406	.|0.85682	.|D	.|0.000000	T|T	0.15825|0.15825	0.0381|0.0381	N|N	0.25647|0.25647	0.755|0.755	0.80722|0.80722	D|D	1|1	.|B;B	.|0.20261	.|0.043;0.003	.|B;B	.|0.26770	.|0.073;0.007	T|T	0.11767|0.11767	-1.0574|-1.0574	5|10	.|0.08381	.|T	.|0.77	.|.	4.2497|4.2497	0.10689|0.10689	0.4195:0.0:0.4306:0.1499|0.4195:0.0:0.4306:0.1499	.|.	.|3397;3421	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	V|S	2244|3397;3422	.|ENSP00000348666:R3397S;ENSP00000350854:R3422S	.|ENSP00000348666:R3397S	G|R	+|+	2|3	0|2	VPS13D|VPS13D	12345487|12345487	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.992000|0.992000	0.81027|0.81027	2.706000|2.706000	0.47135|0.47135	0.077000|0.077000	0.16863|0.16863	0.655000|0.655000	0.94253|0.94253	GGG|AGG		0.433	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		9	433	9	433	---	---	---	---
PADI3	51702	broad.mit.edu	37	1	17609504	17609504	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:17609504G>T	ENST00000375460.3	+	16	1965	c.1925G>T	c.(1924-1926)gGg>gTg	p.G642V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	642					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ATGCTGCATGGGGAGGTGCAC	0.597																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1924-1926)gGg>gTg		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						115.0	96.0	103.0					1																	17609504		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17609504G>T	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1925G>T	1.37:g.17609504G>T	ENSP00000364609:p.Gly642Val						p.G642V	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	16	1965	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	642					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.1925G>T	CCDS179.1	.	.	.	.	.	.	.	.	.	.	g	24.2	4.499760	0.85176	.	.	ENSG00000142619	ENST00000375460	T	0.61980	0.06	5.0	5.0	0.66597	Protein-arginine deiminase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84419	0.5468	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88915	0.3362	10	0.87932	D	0	-38.4746	16.8878	0.86080	0.0:0.0:1.0:0.0	.	642	Q9ULW8	PADI3_HUMAN	V	642	ENSP00000364609:G642V	ENSP00000364609:G642V	G	+	2	0	PADI3	17482091	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.566000	0.98157	2.317000	0.78254	0.561000	0.74099	GGG		0.597	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			4	138	4	138	---	---	---	---
CAPZB	832	broad.mit.edu	37	1	19712116	19712116	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:19712116G>T	ENST00000375142.1	-	3	144	c.98C>A	c.(97-99)cCc>cAc	p.P33H	CAPZB_ENST00000264202.6_Missense_Mutation_p.P33H|CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000433834.1_Missense_Mutation_p.P62H|CAPZB_ENST00000401084.2_Missense_Mutation_p.P33H|CAPZB_ENST00000264203.3_Missense_Mutation_p.P59H|CAPZB_ENST00000375144.1_Missense_Mutation_p.P21H	NM_001206540.1	NP_001193469.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	33					actin cytoskeleton organization (GO:0030036)|barbed-end actin filament capping (GO:0051016)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|muscle fiber development (GO:0048747)|negative regulation of microtubule polymerization (GO:0031115)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)|regulation of protein kinase C signaling (GO:0090036)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|membrane (GO:0016020)|WASH complex (GO:0071203)|Z disc (GO:0030018)	actin binding (GO:0003779)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		ACATAGACTGGGGACCTGGCA	0.473																																						ENST00000264203.3																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7						c.(175-177)cCc>cAc		capping protein (actin filament) muscle Z-line, beta							66.0	68.0	67.0					1																	19712116		1977	4150	6127	SO:0001583	missense	832				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding	g.chr1:19712116G>T	U03271	CCDS41277.1, CCDS55579.1, CCDS72717.1, CCDS72718.1	1p36.1	2014-05-09			ENSG00000077549	ENSG00000077549			1491	protein-coding gene	gene with protein product		601572					Standard	NM_004930		Approved		uc021ohr.1	P47756	OTTHUMG00000002556	ENST00000375142.1:c.98C>A	1.37:g.19712116G>T	ENSP00000364284:p.Pro33His					CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000375144.1_Missense_Mutation_p.P21H|CAPZB_ENST00000264202.6_Missense_Mutation_p.P33H|CAPZB_ENST00000401084.2_Missense_Mutation_p.P33H|CAPZB_ENST00000375142.1_Missense_Mutation_p.P33H|CAPZB_ENST00000433834.1_Missense_Mutation_p.P62H	p.P59H	NM_001206541.2	NP_001193470.1	P47756	CAPZB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)	4	669	-		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)	33					Q32Q68|Q5U0L4|Q8TB49|Q9NUC4	Missense_Mutation	SNP	ENST00000375142.1	37	c.176C>A	CCDS55579.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634221	0.87660	.	.	ENSG00000077549	ENST00000401084;ENST00000264203;ENST00000375144;ENST00000375142;ENST00000433834;ENST00000375145;ENST00000264202;ENST00000413711;ENST00000457768	.	.	.	5.83	5.83	0.93111	.	0.099126	0.64402	D	0.000001	D	0.89763	0.6809	H	0.95884	3.735	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;1.0	D	0.92360	0.5896	9	0.87932	D	0	-16.8671	18.6875	0.91570	0.0:0.0:1.0:0.0	.	62;59;33;21	B1AK88;B1AK85;P47756-2;B1AK87	.;.;.;.	H	33;59;21;33;62;95;33;21;5	.	ENSP00000264202:P33H	P	-	2	0	CAPZB	19584703	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.971000	0.93419	2.759000	0.94783	0.561000	0.74099	CCC		0.473	CAPZB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007260.1			4	87	4	87	---	---	---	---
PLA2G2A	5320	broad.mit.edu	37	1	20304968	20304968	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:20304968C>G	ENST00000375111.3	-	4	361	c.90G>C	c.(88-90)aaG>aaC	p.K30N	PLA2G2A_ENST00000400520.3_Missense_Mutation_p.K30N|PLA2G2A_ENST00000496748.1_5'UTR	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	30					defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of epithelial cell proliferation (GO:0050680)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidic acid metabolic process (GO:0046473)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|small molecule metabolic process (GO:0044281)|somatic stem cell maintenance (GO:0035019)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|phospholipid binding (GO:0005543)	p.K30N(1)		central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Diclofenac(DB00586)|Ginkgo biloba(DB01381)|Indomethacin(DB00328)|Suramin(DB04786)	CTGTCGTCAACTTGATCATTC	0.557																																						ENST00000375111.3																			1	Substitution - Missense(1)	p.K30N(1)	prostate(1)	central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9						c.(88-90)aaG>aaC		phospholipase A2, group IIA (platelets, synovial fluid)							87.0	84.0	85.0					1																	20304968		2203	4300	6503	SO:0001583	missense	5320				defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	g.chr1:20304968C>G	BC005919	CCDS201.1	1p35	2008-09-19			ENSG00000188257	ENSG00000188257	3.1.1.4		9031	protein-coding gene	gene with protein product		172411		PLA2B, PLA2L		8838795	Standard	NM_000300		Approved		uc010odb.2	P14555	OTTHUMG00000002699	ENST00000375111.3:c.90G>C	1.37:g.20304968C>G	ENSP00000364252:p.Lys30Asn					PLA2G2A_ENST00000400520.3_Missense_Mutation_p.K30N|PLA2G2A_ENST00000496748.1_5'UTR	p.K30N	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	4	361	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	30					A8K5I7|Q6DN24|Q6IBD9|Q9UCD2	Missense_Mutation	SNP	ENST00000375111.3	37	c.90G>C	CCDS201.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279107	0.40294	.	.	ENSG00000188257	ENST00000400520;ENST00000375111	T;T	0.27720	1.65;1.65	5.07	-1.78	0.07957	Phospholipase A2 (3);	4.811600	0.00424	N	0.000073	T	0.34803	0.0910	M	0.63208	1.945	0.09310	N	1	P	0.39940	0.696	P	0.46208	0.507	T	0.17684	-1.0361	10	0.18710	T	0.47	.	3.3918	0.07291	0.2824:0.3661:0.0:0.3515	.	30	P14555	PA2GA_HUMAN	N	30	ENSP00000383364:K30N;ENSP00000364252:K30N	ENSP00000364252:K30N	K	-	3	2	PLA2G2A	20177555	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-1.917000	0.01575	-0.221000	0.09973	0.462000	0.41574	AAG		0.557	PLA2G2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007675.1	NM_000300		12	61	12	61	---	---	---	---
FGR	2268	broad.mit.edu	37	1	27942065	27942065	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:27942065G>T	ENST00000374005.3	-	9	1186	c.898C>A	c.(898-900)Ccg>Acg	p.P300T	FGR_ENST00000399173.1_Missense_Mutation_p.P300T|FGR_ENST00000545953.1_Missense_Mutation_p.P234T|FGR_ENST00000374004.1_Missense_Mutation_p.P300T	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	300	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AAGGCCTTCGGGGACATGGTG	0.647																																						ENST00000374005.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16						c.(898-900)Ccg>Acg		feline Gardner-Rasheed sarcoma viral oncogene homolog							74.0	61.0	65.0					1																	27942065		2203	4300	6503	SO:0001583	missense	2268				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:27942065G>T	BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"""SH2 domain containing"""	3697	protein-coding gene	gene with protein product		164940	"""Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog"", ""v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog"", ""feline Gardner-Rasheed sarcoma viral oncogene homolog"""	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.898C>A	1.37:g.27942065G>T	ENSP00000363117:p.Pro300Thr					FGR_ENST00000545953.1_Missense_Mutation_p.P234T|FGR_ENST00000374004.1_Missense_Mutation_p.P300T|FGR_ENST00000399173.1_Missense_Mutation_p.P300T	p.P300T	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	9	1186	-		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	300			Protein kinase.		D3DPL7|Q9UIQ3	Missense_Mutation	SNP	ENST00000374005.3	37	c.898C>A	CCDS305.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.788779	0.70337	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003;ENST00000457296	D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	5.03	4.06	0.47325	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000021	T	0.79718	0.4494	N	0.20574	0.59	0.45662	D	0.998588	P	0.43909	0.821	P	0.50590	0.645	T	0.81573	-0.0871	10	0.51188	T	0.08	.	14.9062	0.70721	0.0:0.1435:0.8565:0.0	.	300	P09769	FGR_HUMAN	T	300;234;300;300;300;300	ENSP00000363117:P300T;ENSP00000445302:P234T;ENSP00000382126:P300T;ENSP00000363116:P300T;ENSP00000363115:P300T;ENSP00000407670:P300T	ENSP00000363115:P300T	P	-	1	0	FGR	27814652	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.705000	0.84606	2.508000	0.84585	0.491000	0.48974	CCG		0.647	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1	NM_005248		5	95	5	95	---	---	---	---
TRIM62	55223	broad.mit.edu	37	1	33612958	33612958	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:33612958C>A	ENST00000291416.5	-	5	1481	c.1248G>T	c.(1246-1248)gtG>gtT	p.V416V	TRIM62_ENST00000543586.1_Silent_p.V295V	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	416	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GGAAGACACCCACCTTGTCAA	0.572																																						ENST00000291416.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1246-1248)gtG>gtT		tripartite motif containing 62							115.0	105.0	109.0					1																	33612958		2203	4300	6503	SO:0001819	synonymous_variant	55223					intracellular	zinc ion binding	g.chr1:33612958C>A	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.1248G>T	1.37:g.33612958C>A						TRIM62_ENST00000543586.1_Silent_p.V295V	p.V416V	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN			5	1481	-		Myeloproliferative disorder(586;0.0393)	416			B30.2/SPRY.		B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Silent	SNP	ENST00000291416.5	37	c.1248G>T	CCDS376.1																																																																																				0.572	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		5	118	5	118	---	---	---	---
SPATA6	54558	broad.mit.edu	37	1	48865161	48865161	+	Silent	SNP	T	T	C	rs370483903		TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:48865161T>C	ENST00000371847.3	-	7	806	c.642A>G	c.(640-642)aaA>aaG	p.K214K	SPATA6_ENST00000371843.3_Silent_p.K214K|SPATA6_ENST00000396199.3_Silent_p.K142K|SPATA6_ENST00000463938.1_5'UTR	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	214					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.K214K(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GAGAGTGTGATTTTGAAGAAA	0.413																																						ENST00000371847.3																			1	Substitution - coding silent(1)	p.K214K(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(640-642)aaA>aaG		spermatogenesis associated 6							267.0	272.0	270.0					1																	48865161		2203	4300	6503	SO:0001819	synonymous_variant	54558				cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		g.chr1:48865161T>C	AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.642A>G	1.37:g.48865161T>C						SPATA6_ENST00000371843.3_Silent_p.K214K|SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_Silent_p.K142K	p.K214K	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN			7	806	-			214					Q5T3N7|Q8WUE6	Silent	SNP	ENST00000371847.3	37	c.642A>G	CCDS551.1																																																																																				0.413	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	NM_019073		9	505	9	505	---	---	---	---
GTF2B	2959	broad.mit.edu	37	1	89325644	89325644	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:89325644C>A	ENST00000370500.5	-	5	574	c.456G>T	c.(454-456)aaG>aaT	p.K152N	GTF2B_ENST00000494819.1_5'UTR	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	152					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)	core promoter binding (GO:0001047)|thyroid hormone receptor binding (GO:0046966)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		TAGCTCTTCCCTTCAGGCTCT	0.358																																						ENST00000370500.5																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(454-456)aaG>aaT		general transcription factor IIB							163.0	167.0	166.0					1																	89325644		2203	4300	6503	SO:0001583	missense	2959				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding	g.chr1:89325644C>A	M76766	CCDS715.1	1p22-p21	2010-03-23			ENSG00000137947	ENSG00000137947		"""General transcription factors"""	4648	protein-coding gene	gene with protein product		189963				1876184, 8162052	Standard	NM_001514		Approved	TFIIB	uc001dmo.4	Q00403	OTTHUMG00000010611	ENST00000370500.5:c.456G>T	1.37:g.89325644C>A	ENSP00000359531:p.Lys152Asn					GTF2B_ENST00000494819.1_5'UTR	p.K152N	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN		all cancers(265;0.0131)|Epithelial(280;0.0255)	5	574	-		Lung NSC(277;0.123)	152					A8K1A7|Q5JS30	Missense_Mutation	SNP	ENST00000370500.5	37	c.456G>T	CCDS715.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960183	0.74016	.	.	ENSG00000137947	ENST00000370500;ENST00000448623;ENST00000418217	T;T;T	0.51817	0.69;0.73;0.71	5.67	4.76	0.60689	Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.62245	0.2412	M	0.87682	2.9	0.80722	D	1	P	0.48162	0.906	D	0.64687	0.928	T	0.69917	-0.5015	10	0.87932	D	0	-25.7243	10.9138	0.47124	0.0:0.8567:0.0:0.1433	.	152	Q00403	TF2B_HUMAN	N	152;151;147	ENSP00000359531:K152N;ENSP00000415741:K151N;ENSP00000402345:K147N	ENSP00000359531:K152N	K	-	3	2	GTF2B	89098232	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.462000	0.45049	1.531000	0.49152	0.591000	0.81541	AAG		0.358	GTF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029279.1	NM_001514		6	367	6	367	---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94508397	94508397	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:94508397A>G	ENST00000370225.3	-	22	3334	c.3248T>C	c.(3247-3249)gTg>gCg	p.V1083A		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1083	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.V1083A(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTCCAGAATCACCACCTTGGC	0.567																																						ENST00000370225.3																			1	Substitution - Missense(1)	p.V1083A(1)	prostate(1)	NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(3247-3249)gTg>gCg		ATP-binding cassette, sub-family A (ABC1), member 4							100.0	85.0	90.0					1																	94508397		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94508397A>G	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3248T>C	1.37:g.94508397A>G	ENSP00000359245:p.Val1083Ala						p.V1083A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	22	3334	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1083			ABC transporter 1.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.3248T>C	CCDS747.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.005858	0.93287	.	.	ENSG00000198691	ENST00000370225	D	0.93712	-3.27	5.76	5.76	0.90799	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.059813	0.64402	D	0.000003	D	0.94518	0.8235	M	0.71296	2.17	0.80722	D	1	P	0.50617	0.937	P	0.55749	0.783	D	0.95191	0.8308	10	0.87932	D	0	.	16.0796	0.80995	1.0:0.0:0.0:0.0	.	1083	P78363	ABCA4_HUMAN	A	1083	ENSP00000359245:V1083A	ENSP00000359245:V1083A	V	-	2	0	ABCA4	94280985	1.000000	0.71417	0.922000	0.36590	0.974000	0.67602	9.310000	0.96267	2.195000	0.70347	0.528000	0.53228	GTG		0.567	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		9	144	9	144	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103385906	103385906	+	Silent	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:103385906G>T	ENST00000370096.3	-	49	4035	c.3723C>A	c.(3721-3723)ccC>ccA	p.P1241P	COL11A1_ENST00000353414.4_Silent_p.P1202P|COL11A1_ENST00000358392.2_Silent_p.P1253P|COL11A1_ENST00000512756.1_Silent_p.P1125P	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1241	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGACCCTGGGGGTCCTTGTG	0.353																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(3757-3759)ccC>ccA		collagen, type XI, alpha 1							142.0	153.0	149.0					1																	103385906		2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103385906G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3723C>A	1.37:g.103385906G>T						COL11A1_ENST00000512756.1_Silent_p.P1125P|COL11A1_ENST00000370096.3_Silent_p.P1241P|COL11A1_ENST00000353414.4_Silent_p.P1202P	p.P1253P	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	49	4076	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1241			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.3759C>A	CCDS778.1																																																																																				0.353	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		7	405	7	405	---	---	---	---
HIPK1	204851	broad.mit.edu	37	1	114510461	114510461	+	Silent	SNP	T	T	C	rs376504628		TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:114510461T>C	ENST00000369558.1	+	12	2687	c.2455T>C	c.(2455-2457)Ttg>Ctg	p.L819L	HIPK1_ENST00000426820.2_Silent_p.L819L|HIPK1_ENST00000369561.4_Silent_p.L785L|HIPK1_ENST00000406344.1_Silent_p.L425L|HIPK1_ENST00000369554.2_Silent_p.L774L|HIPK1_ENST00000369555.2_Silent_p.L774L|HIPK1_ENST00000369559.4_Silent_p.L819L|HIPK1_ENST00000369553.1_Silent_p.L425L|HIPK1_ENST00000340480.4_Silent_p.L445L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	819					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L819L(3)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATGTGACATTGGCCACTGC	0.488																																						ENST00000369558.1																			3	Substitution - coding silent(3)	p.L819L(3)	prostate(3)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(2455-2457)Ttg>Ctg		homeodomain interacting protein kinase 1		T	,,,	3,4403	6.2+/-15.9	0,3,2200	191.0	157.0	169.0		2455,1273,2455,1333	-7.6	0.0	1		169	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HIPK1	NM_152696.3,NM_181358.2,NM_198268.2,NM_198269.2	,,,	0,3,6500	CC,CT,TT		0.0,0.0681,0.0231	,,,	819/1076,425/817,819/1211,445/837	114510461	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114510461T>C	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2455T>C	1.37:g.114510461T>C						HIPK1_ENST00000406344.1_Silent_p.L425L|HIPK1_ENST00000369561.4_Silent_p.L785L|HIPK1_ENST00000369554.2_Silent_p.L774L|HIPK1_ENST00000369555.2_Silent_p.L774L|HIPK1_ENST00000369559.4_Silent_p.L819L|HIPK1_ENST00000369553.1_Silent_p.L425L|HIPK1_ENST00000340480.4_Silent_p.L445L|HIPK1_ENST00000426820.2_Silent_p.L819L	p.L819L			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	2687	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	819					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Silent	SNP	ENST00000369558.1	37	c.2455T>C	CCDS867.1	.	.	.	.	.	.	.	.	.	.	T	7.075	0.569058	0.13560	6.81E-4	0.0	ENSG00000163349	ENST00000361587	.	.	.	5.57	-7.64	0.01286	.	.	.	.	.	T	0.55146	0.1902	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69480	-0.5134	4	.	.	.	.	19.7827	0.96424	0.0:0.6764:0.0:0.3236	.	.	.	.	T	99	.	.	I	+	2	0	HIPK1	114311984	0.000000	0.05858	0.001000	0.08648	0.893000	0.52053	-0.303000	0.08210	-2.112000	0.00835	-1.139000	0.01908	ATT		0.488	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		7	210	7	210	---	---	---	---
THBS3	7059	broad.mit.edu	37	1	155174919	155174919	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:155174919G>T	ENST00000368378.3	-	3	495	c.475C>A	c.(475-477)Ccc>Acc	p.P159T	THBS3_ENST00000457183.2_Intron|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000486260.1_5'UTR	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	159	Laminin G-like.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGAGGAATGGGGGCCAGTGCT	0.602																																						ENST00000368378.3																			0				breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(475-477)Ccc>Acc		thrombospondin 3							64.0	59.0	60.0					1																	155174919		2203	4300	6503	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155174919G>T	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.475C>A	1.37:g.155174919G>T	ENSP00000357362:p.Pro159Thr					THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000457183.2_Intron|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA	p.P159T	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	495	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		159			TSP N-terminal.		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.475C>A	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709941	0.48517	.	.	ENSG00000169231	ENST00000368378	T	0.80123	-1.34	5.56	4.65	0.58169	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.339607	0.30940	N	0.008565	T	0.36496	0.0969	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.0;0.003;0.003	T	0.37502	-0.9703	10	0.14656	T	0.56	-19.8793	7.487	0.27439	0.0845:0.0:0.7507:0.1648	.	159;159;159	Q53FK6;Q2HIZ0;P49746	.;.;TSP3_HUMAN	T	159	ENSP00000357362:P159T	ENSP00000357362:P159T	P	-	1	0	THBS3	153441543	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.696000	0.37773	1.495000	0.48549	0.579000	0.79373	CCC		0.602	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		4	81	4	81	---	---	---	---
FCRL4	83417	broad.mit.edu	37	1	157558993	157558993	+	Splice_Site	SNP	C	C	G	rs369715282		TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:157558993C>G	ENST00000271532.1	-	3	443		c.e3+1		FCRL4_ENST00000448509.2_Splice_Site	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4						immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TTCTTTCTCACCTGAAGAAAA	0.493																																						ENST00000271532.1																			1	Unknown(1)	p.?(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40						c.e3+1		Fc receptor-like 4							56.0	62.0	60.0					1																	157558993		2203	4300	6503	SO:0001630	splice_region_variant	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157558993C>G	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.307+1G>C	1.37:g.157558993C>G						FCRL4_ENST00000448509.2_Splice_Site		NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN			3	443	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)						Q96PJ3|Q96RE0	Splice_Site	SNP	ENST00000271532.1	37		CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908885	0.52439	.	.	ENSG00000163518	ENST00000271532	.	.	.	4.2	2.26	0.28386	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9094	0.13814	0.2098:0.6794:0.0:0.1107	.	.	.	.	.	-1	.	.	.	-	.	.	FCRL4	155825617	0.904000	0.30761	0.879000	0.34478	0.783000	0.44284	0.366000	0.20365	0.482000	0.27582	0.557000	0.71058	.		0.493	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282	Intron	18	146	18	146	---	---	---	---
NIT1	4817	broad.mit.edu	37	1	161088966	161088966	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:161088966C>A	ENST00000368009.2	+	3	217	c.141C>A	c.(139-141)ccC>ccA	p.P47P	NIT1_ENST00000368007.4_Silent_p.P32P|PFDN2_ENST00000468311.1_5'Flank|NIT1_ENST00000368008.1_Silent_p.P47P|NIT1_ENST00000496861.1_3'UTR|NIT1_ENST00000392190.5_Silent_p.P11P|PFDN2_ENST00000368010.3_5'Flank|DEDD_ENST00000489249.1_5'Flank	NM_005600.2	NP_005591.1	Q86X76	NIT1_HUMAN	nitrilase 1	47	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				nitrogen compound metabolic process (GO:0006807)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	nitrilase activity (GO:0000257)			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCGAACTGCCCCTGGTGGCTG	0.532																																						ENST00000368008.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12						c.(139-141)ccC>ccA		nitrilase 1							76.0	74.0	75.0					1																	161088966		2203	4300	6503	SO:0001819	synonymous_variant	4817				nitrogen compound metabolic process	mitochondrion	nitrilase activity	g.chr1:161088966C>A	AF069984	CCDS1218.1, CCDS53401.1, CCDS53402.1, CCDS53403.1	1q21-q22	2008-05-14			ENSG00000158793	ENSG00000158793			7828	protein-coding gene	gene with protein product		604618				9671749	Standard	NM_005600		Approved		uc001fxv.2	Q86X76	OTTHUMG00000031473	ENST00000368009.2:c.141C>A	1.37:g.161088966C>A						NIT1_ENST00000368009.2_Silent_p.P47P|NIT1_ENST00000392190.5_Silent_p.P11P|NIT1_ENST00000368007.4_Silent_p.P32P|NIT1_ENST00000496861.1_3'UTR	p.P47P	NM_001185092.1	NP_001172021.1	Q86X76	NIT1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		3	200	+	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		47			CN hydrolase.		B1AQP3|D3DVF4|O76091	Silent	SNP	ENST00000368009.2	37	c.141C>A	CCDS1218.1																																																																																				0.532	NIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077060.1			5	185	5	185	---	---	---	---
KIF21B	23046	broad.mit.edu	37	1	200978472	200978472	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:200978472C>A	ENST00000422435.2	-	2	502	c.186G>T	c.(184-186)caG>caT	p.Q62H	KIF21B_ENST00000360529.5_Missense_Mutation_p.Q62H|KIF21B_ENST00000332129.2_Missense_Mutation_p.Q62H|KIF21B_ENST00000461742.2_Missense_Mutation_p.Q62H	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	62	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)	p.Q62H(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGGAATAGATCTGTTCTTGCC	0.572																																						ENST00000332129.2																			1	Substitution - Missense(1)	p.Q62H(1)	prostate(1)	autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(184-186)caG>caT		kinesin family member 21B							132.0	122.0	125.0					1																	200978472		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200978472C>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.186G>T	1.37:g.200978472C>A	ENSP00000411831:p.Gln62His					KIF21B_ENST00000422435.2_Missense_Mutation_p.Q62H|KIF21B_ENST00000461742.2_Missense_Mutation_p.Q62H|KIF21B_ENST00000360529.5_Missense_Mutation_p.Q62H	p.Q62H	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			2	502	-			62			Kinesin-motor.		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.186G>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516598	0.27123	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	4.53	1.52	0.23074	Kinesin, motor domain (4);	0.378762	0.27759	N	0.017961	T	0.57902	0.2085	N	0.25485	0.75	0.35137	D	0.768488	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.10450	0.003;0.003;0.005;0.002	T	0.58081	-0.7699	10	0.54805	T	0.06	.	7.7555	0.28921	0.0:0.6561:0.0:0.3439	.	62;62;62;62	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	H	62	ENSP00000328494:Q62H;ENSP00000353724:Q62H;ENSP00000433808:Q62H;ENSP00000411831:Q62H	ENSP00000328494:Q62H	Q	-	3	2	KIF21B	199245095	1.000000	0.71417	0.986000	0.45419	0.795000	0.44927	0.903000	0.28475	0.513000	0.28278	0.650000	0.86243	CAG		0.572	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		11	99	11	99	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203693090	203693090	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:203693090G>T	ENST00000357681.5	+	19	4229	c.3106G>T	c.(3106-3108)Ggg>Tgg	p.G1036W	ATP2B4_ENST00000391954.2_Intron|ATP2B4_ENST00000367219.3_Missense_Mutation_p.G1024W|ATP2B4_ENST00000466407.1_3'UTR|ATP2B4_ENST00000367218.3_Missense_Mutation_p.G1036W|ATP2B4_ENST00000341360.2_Missense_Mutation_p.G1036W	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1036					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCTCTTCATTGGGATTGGAGA	0.522																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(3106-3108)Ggg>Tgg		ATPase, Ca++ transporting, plasma membrane 4							157.0	159.0	158.0					1																	203693090		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203693090G>T	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.3106G>T	1.37:g.203693090G>T	ENSP00000350310:p.Gly1036Trp					ATP2B4_ENST00000391954.2_Intron|ATP2B4_ENST00000341360.2_Missense_Mutation_p.G1036W|ATP2B4_ENST00000466407.1_3'UTR|ATP2B4_ENST00000367219.3_Missense_Mutation_p.G1024W|ATP2B4_ENST00000367218.3_Missense_Mutation_p.G1036W	p.G1036W	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		19	4229	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		1036					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.3106G>T	CCDS1440.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.4|26.4	4.733933|4.733933	0.89482|0.89482	.|.	.|.	ENSG00000058668|ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000341360|ENST00000458092	D;D;D;D|.	0.96522|.	-4.04;-4.04;-4.04;-4.04|.	5.19|5.19	5.19|5.19	0.71726|0.71726	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);|.	0.255887|.	0.28036|.	N|.	0.016852|.	D|D	0.90800|0.90800	0.7111|0.7111	H|H	0.98629|0.98629	4.285|4.285	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.996;1.0;0.99|.	D;D;P|.	0.91635|.	0.957;0.999;0.807|.	D|D	0.94441|0.94441	0.7658|0.7658	10|5	0.87932|.	D|.	0|.	-14.6879|-14.6879	18.2983|18.2983	0.90154|0.90154	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1036;1036;1036|.	P23634;P23634-6;B1APW5|.	AT2B4_HUMAN;.;.|.	W|F	1036;1036;1024;1036|22	ENSP00000350310:G1036W;ENSP00000356187:G1036W;ENSP00000356188:G1024W;ENSP00000340930:G1036W|.	ENSP00000340930:G1036W|.	G|L	+|+	1|3	0|2	ATP2B4|ATP2B4	201959713|201959713	1.000000|1.000000	0.71417|0.71417	0.935000|0.935000	0.37517|0.37517	0.813000|0.813000	0.45954|0.45954	9.777000|9.777000	0.99008|0.99008	2.426000|2.426000	0.82243|0.82243	0.650000|0.650000	0.86243|0.86243	GGG|TTG		0.522	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		4	112	4	112	---	---	---	---
NVL	4931	broad.mit.edu	37	1	224495815	224495815	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:224495815G>T	ENST00000281701.6	-	6	752	c.493C>A	c.(493-495)Cct>Act	p.P165T	RNU6-1008P_ENST00000384160.1_RNA|NVL_ENST00000340871.4_Intron|NVL_ENST00000482491.1_Intron|NVL_ENST00000361463.3_Missense_Mutation_p.P59T|NVL_ENST00000391875.2_Missense_Mutation_p.P59T|NVL_ENST00000469075.1_Intron	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	165						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TCTTTGGCAGGGGTCTTCAAG	0.418																																						ENST00000281701.6																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42						c.(493-495)Cct>Act		nuclear VCP-like							170.0	165.0	167.0					1																	224495815		2203	4300	6503	SO:0001583	missense	4931					aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	g.chr1:224495815G>T	U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.493C>A	1.37:g.224495815G>T	ENSP00000281701:p.Pro165Thr					NVL_ENST00000391875.2_Missense_Mutation_p.P59T|NVL_ENST00000482491.1_Intron|NVL_ENST00000340871.4_Intron|NVL_ENST00000469075.1_Intron|NVL_ENST00000361463.3_Missense_Mutation_p.P59T	p.P165T	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN		GBM - Glioblastoma multiforme(131;0.00501)	6	752	-			165					B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	ENST00000281701.6	37	c.493C>A	CCDS1541.1	.	.	.	.	.	.	.	.	.	.	G	6.416	0.444956	0.12164	.	.	ENSG00000143748	ENST00000281701;ENST00000391875;ENST00000361463;ENST00000492281;ENST00000436927	D;D;D	0.95069	-3.42;-3.46;-3.6	5.78	1.39	0.22231	.	0.621076	0.16816	N	0.198348	D	0.86904	0.6045	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.73023	-0.4113	10	0.23891	T	0.37	-5.2483	3.9572	0.09395	0.1934:0.1237:0.5572:0.1257	.	165	O15381	NVL_HUMAN	T	165;59;59;70;61	ENSP00000281701:P165T;ENSP00000375747:P59T;ENSP00000354779:P59T	ENSP00000281701:P165T	P	-	1	0	NVL	222562438	0.188000	0.23250	0.673000	0.29887	0.211000	0.24417	0.903000	0.28475	0.344000	0.23847	0.655000	0.94253	CCT		0.418	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533		6	323	6	323	---	---	---	---
DDX1	1653	broad.mit.edu	37	2	15753347	15753347	+	Splice_Site	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:15753347G>T	ENST00000381341.2	+	15	1345		c.e15-1		DDX1_ENST00000233084.3_Splice_Site			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1						ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		ATTTATTTCAGGGAGCTTCTG	0.313																																						ENST00000381341.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.e15-1		DEAD (Asp-Glu-Ala-Asp) box helicase 1							54.0	58.0	57.0					2																	15753347		2201	4299	6500	SO:0001630	splice_region_variant	1653				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr2:15753347G>T	X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.957-1G>T	2.37:g.15753347G>T						DDX1_ENST00000233084.3_Splice_Site				Q92499	DDX1_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)	15	1345	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)						B4DME8|B4DPN6	Splice_Site	SNP	ENST00000381341.2	37		CCDS1686.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650337	0.87958	.	.	ENSG00000079785	ENST00000381341;ENST00000233084;ENST00000543614	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.33	0.98713	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDX1	15670798	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.755000	0.91646	2.810000	0.96702	0.585000	0.79938	.		0.313	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939	Intron	4	101	4	101	---	---	---	---
PRKD3	23683	broad.mit.edu	37	2	37543436	37543436	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:37543436G>T	ENST00000379066.1	-	2	994	c.232C>A	c.(232-234)Cag>Aag	p.Q78K	PRKD3_ENST00000477132.1_5'Flank|PRKD3_ENST00000234179.2_Missense_Mutation_p.Q78K			O94806	KPCD3_HUMAN	protein kinase D3	78					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GACAGTTCCTGGGCTTCAATG	0.423																																					Melanoma(80;621 1355 8613 11814 51767)	ENST00000379066.1																			0				breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(232-234)Cag>Aag		protein kinase D3							161.0	154.0	156.0					2																	37543436		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37543436G>T	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.232C>A	2.37:g.37543436G>T	ENSP00000368356:p.Gln78Lys					PRKD3_ENST00000234179.2_Missense_Mutation_p.Q78K	p.Q78K			O94806	KPCD3_HUMAN			2	994	-		all_hematologic(82;0.21)	78					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.232C>A	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	5.576	0.291019	0.10567	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.64438	-0.1;-0.1	5.67	5.67	0.87782	.	0.286619	0.35870	N	0.002926	T	0.50222	0.1603	N	0.19112	0.55	0.34172	D	0.669967	B;B	0.24317	0.101;0.034	B;B	0.28385	0.089;0.019	T	0.54774	-0.8243	10	0.21014	T	0.42	-6.4336	17.9492	0.89047	0.0:0.0:1.0:0.0	.	78;78	O94806-2;O94806	.;KPCD3_HUMAN	K	78	ENSP00000368356:Q78K;ENSP00000234179:Q78K	ENSP00000234179:Q78K	Q	-	1	0	PRKD3	37396940	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.361000	0.52306	2.665000	0.90641	0.591000	0.81541	CAG		0.423	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		6	321	6	321	---	---	---	---
MTA3	57504	broad.mit.edu	37	2	42871298	42871298	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:42871298C>A	ENST00000405094.1	+	6	413	c.413C>A	c.(412-414)cCc>cAc	p.P138H	MTA3_ENST00000405592.1_Missense_Mutation_p.P82H|MTA3_ENST00000407270.3_Missense_Mutation_p.P138H|MTA3_ENST00000406911.1_Missense_Mutation_p.P138H|MTA3_ENST00000406652.1_Missense_Mutation_p.P82H			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	138	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.					intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						GTCTATGACCCCTCATTGAAA	0.348																																						ENST00000405592.1																			0				endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						c.(244-246)cCc>cAc		metastasis associated 1 family, member 3							130.0	118.0	122.0					2																	42871298		1836	4094	5930	SO:0001583	missense	57504					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:42871298C>A	AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"""GATA zinc finger domain containing"""	23784	protein-coding gene	gene with protein product		609050	"""metastasis associated gene family, member 3"""			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.413C>A	2.37:g.42871298C>A	ENSP00000385823:p.Pro138His					MTA3_ENST00000407270.3_Missense_Mutation_p.P138H|MTA3_ENST00000405094.1_Missense_Mutation_p.P138H|MTA3_ENST00000406911.1_Missense_Mutation_p.P138H|MTA3_ENST00000406652.1_Missense_Mutation_p.P82H	p.P82H	NM_001282755.1	NP_001269684.1	Q9BTC8	MTA3_HUMAN			7	915	+			138			BAH.		Q9NSP2|Q9ULF4	Missense_Mutation	SNP	ENST00000405094.1	37	c.245C>A		.	.	.	.	.	.	.	.	.	.	C	25.7	4.666465	0.88251	.	.	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37	4.78	4.78	0.61160	.	0.062767	0.64402	N	0.000003	D	0.94870	0.8342	M	0.84948	2.725	0.80722	D	1	P;D;D	0.89917	0.835;0.964;1.0	P;P;D	0.83275	0.728;0.773;0.996	D	0.95592	0.8655	10	0.87932	D	0	-12.5763	16.7585	0.85506	0.0:1.0:0.0:0.0	.	138;138;82	E7EQY4;Q9BTC8-2;D6W5A2	.;.;.	H	82;82;138;138;138;138	ENSP00000383973:P82H;ENSP00000384249:P82H;ENSP00000385045:P138H;ENSP00000385241:P138H;ENSP00000385823:P138H	ENSP00000282366:P138H	P	+	2	0	MTA3	42724802	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.198000	0.77823	2.459000	0.83118	0.650000	0.86243	CCC		0.348	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744		4	116	4	116	---	---	---	---
MSH6	2956	broad.mit.edu	37	2	48027255	48027255	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:48027255C>A	ENST00000234420.5	+	4	2285	c.2133C>A	c.(2131-2133)ccC>ccA	p.P711P	MSH6_ENST00000540021.1_Silent_p.P581P|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Silent_p.P409P	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	711					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATATATTCCCTTGGATTCTG	0.408			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.5			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(2131-2133)ccC>ccA	Mismatch excision repair (MMR)	mutS homolog 6							108.0	108.0	108.0					2																	48027255		2203	4300	6503	SO:0001819	synonymous_variant	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48027255C>A	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.2133C>A	2.37:g.48027255C>A						FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.P581P|MSH6_ENST00000538136.1_Silent_p.P409P	p.P711P	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	2285	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)						B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	ENST00000234420.5	37	c.2133C>A	CCDS1836.1																																																																																				0.408	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		6	364	6	364	---	---	---	---
CCT4	10575	broad.mit.edu	37	2	62104186	62104186	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:62104186C>A	ENST00000394440.3	-	7	942	c.646G>T	c.(646-648)Ggg>Tgg	p.G216W	CCT4_ENST00000538252.1_Splice_Site_p.G160W|CCT4_ENST00000544079.1_Splice_Site_p.G186W|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000461540.2_5'Flank|CCT4_ENST00000544185.1_Splice_Site_p.G66W	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	216					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			TCAATTGTCCCACTAAGGATA	0.393																																						ENST00000394440.3																			0				breast(1)|large_intestine(2)|lung(6)|ovary(2)	11						c.(646-648)Ggg>Tgg		chaperonin containing TCP1, subunit 4 (delta)							69.0	70.0	70.0					2																	62104186		2203	4300	6503	SO:0001630	splice_region_variant	10575				'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding	g.chr2:62104186C>A		CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"""Heat Shock Proteins / Chaperonins"""	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.645-1G>T	2.37:g.62104186C>A						CCT4_ENST00000544079.1_Splice_Site_p.G186W|CCT4_ENST00000538252.1_Splice_Site_p.G160W|CCT4_ENST00000544185.1_Splice_Site_p.G66W|AC107081.5_ENST00000425779.1_RNA	p.G216W	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)		7	942	-	Lung NSC(7;0.035)|all_lung(7;0.0691)		216					B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Splice_Site	SNP	ENST00000394440.3	37	c.646G>T	CCDS33206.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483255	0.84747	.	.	ENSG00000115484	ENST00000394440;ENST00000544079;ENST00000544185;ENST00000538252	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.48	5.48	0.80851	.	0.093010	0.85682	D	0.000000	D	0.96137	0.8741	H	0.99894	4.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.98164	1.0448	10	0.87932	D	0	-9.2373	19.3339	0.94307	0.0:1.0:0.0:0.0	.	186;216	F5H5W3;P50991	.;TCPD_HUMAN	W	216;186;66;160	ENSP00000377958:G216W;ENSP00000443061:G186W;ENSP00000443451:G66W;ENSP00000442174:G160W	ENSP00000377958:G216W	G	-	1	0	CCT4	61957690	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.598000	0.82745	2.730000	0.93505	0.655000	0.94253	GGG		0.393	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2		Missense_Mutation	5	197	5	197	---	---	---	---
BOLA3	388962	broad.mit.edu	37	2	74362730	74362730	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:74362730G>T	ENST00000327428.5	-	4	433	c.314C>A	c.(313-315)cCc>cAc	p.P105H	BOLA3_ENST00000295326.4_Silent_p.P75P	NM_212552.2	NP_997717.2	Q53S33	BOLA3_HUMAN	bolA family member 3	105						extracellular region (GO:0005576)				large_intestine(1)|lung(1)	2						TCAGCGTTTGGGGACAGAGGT	0.418																																						ENST00000327428.5																			0				large_intestine(1)|lung(1)	2						c.(313-315)cCc>cAc		bolA family member 3							224.0	189.0	201.0					2																	74362730		2203	4300	6503	SO:0001583	missense	388962					extracellular region		g.chr2:74362730G>T	BC017744	CCDS33224.1, CCDS33225.1	2p13.1	2013-09-02	2013-09-02		ENSG00000163170	ENSG00000163170			24415	protein-coding gene	gene with protein product		613183	"""bolA-like 3 (E. coli)"", ""bolA homolog 3 (E. coli)"""			14718656	Standard	NM_001035505		Approved		uc002skc.1	Q53S33	OTTHUMG00000152834	ENST00000327428.5:c.314C>A	2.37:g.74362730G>T	ENSP00000331369:p.Pro105His					BOLA3_ENST00000295326.4_Silent_p.P75P	p.P105H	NM_212552.2	NP_997717.2	Q53S33	BOLA3_HUMAN			4	433	-			105					G3XAB0	Missense_Mutation	SNP	ENST00000327428.5	37	c.314C>A	CCDS33225.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461852	0.84425	.	.	ENSG00000163170	ENST00000327428	T	0.70045	-0.45	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.82015	0.4945	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83855	0.0265	9	0.87932	D	0	-23.5183	16.3832	0.83489	0.0:0.0:1.0:0.0	.	105	Q53S33	BOLA3_HUMAN	H	105	ENSP00000331369:P105H	ENSP00000331369:P105H	P	-	2	0	BOLA3	74216238	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.899000	0.75682	2.804000	0.96469	0.655000	0.94253	CCC		0.418	BOLA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328207.2	NM_212552		7	256	7	256	---	---	---	---
PKP4	8502	broad.mit.edu	37	2	159499082	159499082	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:159499082C>A	ENST00000389759.3	+	11	1892	c.1780C>A	c.(1780-1782)Ctt>Att	p.L594I	PKP4_ENST00000389757.3_Missense_Mutation_p.L594I	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	594					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TTGTGGTGCCCTTCGAAACCT	0.413										HNSCC(62;0.18)																												ENST00000389757.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(1780-1782)Ctt>Att		plakophilin 4							132.0	133.0	133.0					2																	159499082		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159499082C>A	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.1780C>A	2.37:g.159499082C>A	ENSP00000374409:p.Leu594Ile	HNSCC(62;0.18)				PKP4_ENST00000389759.3_Missense_Mutation_p.L594I	p.L594I	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN			11	1905	+			594					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.1780C>A	CCDS33305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.238146|4.238146	0.79800|0.79800	.|.	.|.	ENSG00000144283|ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759|ENST00000389756	D;D|.	0.84146|.	-1.81;-1.81|.	5.87|5.87	5.87|5.87	0.94306|0.94306	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79551|0.79551	0.4465|0.4465	M|M	0.90369|0.90369	3.11|3.11	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.994;1.0;0.999;1.0;0.996|.	D;D;D;D;D|.	0.91635|.	0.999;0.999;0.997;0.999;0.999|.	T|T	0.82896|0.82896	-0.0230|-0.0230	10|6	0.87932|0.87932	D|D	0|0	-7.849|-7.849	10.5651|10.5651	0.45167|0.45167	0.0:0.8576:0.0:0.1424|0.0:0.8576:0.0:0.1424	.|.	446;549;594;594;445|.	Q6LCG8;Q4W5T8;Q99569-2;Q99569;F8W7E2|.	.;.;.;PKP4_HUMAN;.|.	I|H	445;594;594|81	ENSP00000374407:L594I;ENSP00000374409:L594I|.	ENSP00000374407:L594I|ENSP00000374406:P81H	L|P	+|+	1|2	0|0	PKP4|PKP4	159207328|159207328	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.304000|3.304000	0.51866|0.51866	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	CTT|CCT		0.413	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			5	222	5	222	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168099282	168099282	+	Silent	SNP	T	T	G	rs371638628		TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:168099282T>G	ENST00000409195.1	+	9	1469	c.1380T>G	c.(1378-1380)ctT>ctG	p.L460L	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L460L|XIRP2_ENST00000409273.1_Silent_p.L238L|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	285					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.L460L(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGACGTACTTCAAACTTCAG	0.448																																						ENST00000409195.1																			1	Substitution - coding silent(1)	p.L460L(1)	prostate(1)	NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(1378-1380)ctT>ctG		xin actin-binding repeat containing 2							86.0	81.0	83.0					2																	168099282		1913	4118	6031	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099282T>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1380T>G	2.37:g.168099282T>G						XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L238L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L460L	p.L460L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	1469	+			285					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.1380T>G	CCDS42769.1																																																																																				0.448	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		24	188	24	188	---	---	---	---
PPIG	9360	broad.mit.edu	37	2	170493832	170493832	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:170493832C>A	ENST00000260970.3	+	14	2284	c.2064C>A	c.(2062-2064)ccC>ccA	p.P688P	PPIG_ENST00000448752.2_Silent_p.P688P|PPIG_ENST00000409714.3_Silent_p.P673P	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	688					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ATCAAAGTCCCTTCTCAAAAA	0.348																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(2062-2064)ccC>ccA		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						51.0	54.0	53.0					2																	170493832		2202	4300	6502	SO:0001819	synonymous_variant	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493832C>A	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.2064C>A	2.37:g.170493832C>A						PPIG_ENST00000448752.2_Silent_p.P688P|PPIG_ENST00000409714.3_Silent_p.P673P	p.P688P	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			14	2284	+			688					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Silent	SNP	ENST00000260970.3	37	c.2064C>A	CCDS2235.1																																																																																				0.348	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			4	146	4	146	---	---	---	---
CRYGB	1419	broad.mit.edu	37	2	209007467	209007467	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:209007467C>A	ENST00000260988.4	-	3	470	c.423G>T	c.(421-423)agG>agT	p.R141S		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	141	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		ACTGCCTCCCCCTGTAGTTGG	0.532																																						ENST00000260988.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14						c.(421-423)agG>agT		crystallin, gamma B							98.0	98.0	98.0					2																	209007467		2203	4300	6503	SO:0001583	missense	1419				visual perception		structural constituent of eye lens	g.chr2:209007467C>A		CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"""crystallin, gamma 1-2"""	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.423G>T	2.37:g.209007467C>A	ENSP00000260988:p.Arg141Ser						p.R141S	NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN		Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)	3	470	-			141			Beta/gamma crystallin 'Greek key' 4.		Q17RB5|Q53ST2	Missense_Mutation	SNP	ENST00000260988.4	37	c.423G>T	CCDS2380.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255155	0.59321	.	.	ENSG00000182187	ENST00000260988	T	0.77358	-1.09	4.73	1.88	0.25563	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.092958	0.64402	D	0.000001	T	0.78521	0.4296	M	0.83118	2.625	0.53005	D	0.999961	P	0.37864	0.61	B	0.43225	0.412	T	0.77051	-0.2731	10	0.87932	D	0	.	5.8811	0.18856	0.0:0.6442:0.1643:0.1915	.	141	P07316	CRGB_HUMAN	S	141	ENSP00000260988:R141S	ENSP00000260988:R141S	R	-	3	2	CRYGB	208715712	0.847000	0.29606	0.994000	0.49952	0.996000	0.88848	0.062000	0.14389	0.681000	0.31386	0.561000	0.74099	AGG		0.532	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256473.2	NM_005210		6	312	6	312	---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230657838	230657838	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:230657838T>C	ENST00000283943.5	-	26	3945	c.3767A>G	c.(3766-3768)cAg>cGg	p.Q1256R	TRIP12_ENST00000389045.3_Missense_Mutation_p.Q986R|TRIP12_ENST00000389044.4_Missense_Mutation_p.Q1304R	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1256					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.Q1256R(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTTTAAAGCCTGTGATCCTCT	0.328																																						ENST00000283943.5																			1	Substitution - Missense(1)	p.Q1256R(1)	prostate(1)	breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(3766-3768)cAg>cGg		thyroid hormone receptor interactor 12							68.0	71.0	70.0					2																	230657838		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230657838T>C	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3767A>G	2.37:g.230657838T>C	ENSP00000283943:p.Gln1256Arg					TRIP12_ENST00000389045.3_Missense_Mutation_p.Q986R|TRIP12_ENST00000389044.4_Missense_Mutation_p.Q1304R	p.Q1256R	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	26	3945	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1256					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.3767A>G	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.657562	0.88154	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.47528	0.84;1.13;0.84	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	L	0.50333	1.59	0.80722	D	1	P;D;P	0.54601	0.851;0.967;0.851	P;P;P	0.55391	0.775;0.696;0.775	T	0.54549	-0.8277	10	0.36615	T	0.2	.	15.7974	0.78423	0.0:0.0:0.0:1.0	.	986;1304;1256	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	R	1256;986;1304	ENSP00000283943:Q1256R;ENSP00000373697:Q986R;ENSP00000373696:Q1304R	ENSP00000283943:Q1256R	Q	-	2	0	TRIP12	230366082	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.572000	0.82409	2.115000	0.64714	0.528000	0.53228	CAG		0.328	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		16	119	16	119	---	---	---	---
SP110	3431	broad.mit.edu	37	2	231050859	231050859	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:231050859C>A	ENST00000358662.4	-	11	1208	c.1130G>T	c.(1129-1131)gGg>gTg	p.G377V	SP110_ENST00000258382.5_Splice_Site_p.G377V|SP110_ENST00000258381.6_Splice_Site_p.G377V|SP110_ENST00000540870.1_Splice_Site_p.G383V|SP110_ENST00000392048.3_Splice_Site_p.G375V|SP110_ENST00000338556.3_Splice_Site_p.G79V	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	377					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TGAGGCTGCCCCTGGACCAAA	0.483																																						ENST00000258381.6																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1129-1131)gGg>gTg		SP110 nuclear body protein							88.0	77.0	81.0					2																	231050859		2203	4300	6503	SO:0001630	splice_region_variant	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231050859C>A	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.1130-1G>T	2.37:g.231050859C>A						SP110_ENST00000392048.3_Splice_Site_p.G375V|SP110_ENST00000358662.4_Splice_Site_p.G377V|SP110_ENST00000258382.5_Splice_Site_p.G377V|SP110_ENST00000338556.3_Splice_Site_p.G79V|SP110_ENST00000540870.1_Splice_Site_p.G383V	p.G377V	NM_080424.2	NP_536349	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	11	1207	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	377					B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Splice_Site	SNP	ENST00000358662.4	37	c.1130G>T	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	C	5.157	0.214527	0.09810	.	.	ENSG00000135899	ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870;ENST00000338556	T;T;T;T;T;T	0.73681	0.71;0.55;-0.77;-0.58;-0.56;2.01	2.46	0.537	0.17144	.	.	.	.	.	T	0.78735	0.4330	L	0.49126	1.545	0.09310	N	0.999998	D;P;D;D;D	0.69078	0.997;0.901;0.997;0.99;0.997	D;B;D;P;P	0.83275	0.996;0.333;0.996;0.676;0.899	T	0.65010	-0.6272	9	0.66056	D	0.02	.	5.1547	0.15029	0.2035:0.6612:0.0:0.1353	.	375;79;383;377;377	G5E9C0;E7ER70;F5H1M1;Q9HB58;Q9HB58-6	.;.;.;SP110_HUMAN;.	V	377;377;375;377;383;79	ENSP00000258381:G377V;ENSP00000351488:G377V;ENSP00000375902:G375V;ENSP00000258382:G377V;ENSP00000439558:G383V;ENSP00000344049:G79V	ENSP00000258381:G377V	G	-	2	0	SP110	230759103	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.373000	0.07494	-0.161000	0.10983	-2.157000	0.00329	GGG		0.483	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424	Missense_Mutation	4	127	4	127	---	---	---	---
NEU4	129807	broad.mit.edu	37	2	242755700	242755700	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:242755700C>A	ENST00000391969.2	+	3	730	c.19C>A	c.(19-21)Cct>Act	p.P7T	AC114730.3_ENST00000420272.2_RNA|NEU4_ENST00000325935.6_Missense_Mutation_p.P20T|NEU4_ENST00000407683.1_Missense_Mutation_p.P7T|NEU4_ENST00000404257.1_Missense_Mutation_p.P19T|NEU4_ENST00000405370.1_Missense_Mutation_p.P7T	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	7					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CCCTCGTACCCCTTCACGGAC	0.687																																						ENST00000391969.2																			0				breast(1)|lung(10)|prostate(2)|skin(2)	15						c.(19-21)Cct>Act		sialidase 4							36.0	37.0	37.0					2																	242755700		2203	4300	6503	SO:0001583	missense	129807					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	g.chr2:242755700C>A	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.19C>A	2.37:g.242755700C>A	ENSP00000375830:p.Pro7Thr					NEU4_ENST00000325935.6_Missense_Mutation_p.P20T|NEU4_ENST00000404257.1_Missense_Mutation_p.P19T|NEU4_ENST00000405370.1_Missense_Mutation_p.P7T|NEU4_ENST00000407683.1_Missense_Mutation_p.P7T	p.P7T	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	3	730	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	7					A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	37	c.19C>A	CCDS54442.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.33|18.33	3.599686|3.599686	0.66332|0.66332	.|.	.|.	ENSG00000204099|ENSG00000204099	ENST00000472793|ENST00000407683;ENST00000415936;ENST00000405370;ENST00000423583;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000435934;ENST00000435894;ENST00000426032;ENST00000420288;ENST00000428592	.|T;T;T;T;T;T;T;T;T;T;T	.|0.39592	.|2.97;1.12;2.97;2.97;2.97;2.97;2.97;1.39;1.07;2.97;2.97	3.65|3.65	2.75|2.75	0.32379|0.32379	.|Neuraminidase (1);	0.121970|0.121970	0.56097|0.56097	U|U	0.000029|0.000029	T|T	0.45034|0.45034	0.1322|0.1322	L|L	0.27053|0.27053	0.805|0.805	0.53005|0.53005	D|D	0.999963|0.999963	.|D;D;D	.|0.76494	.|0.999;0.999;0.996	.|D;D;P	.|0.67382	.|0.921;0.951;0.858	T|T	0.30765|0.30765	-0.9967|-0.9967	7|10	0.66056|0.37606	D|T	0.02|0.19	-15.4554|-15.4554	10.2751|10.2751	0.43506|0.43506	0.0:0.8995:0.0:0.1005|0.0:0.8995:0.0:0.1005	.|.	.|19;19;7	.|A8K211;Q8WWR8-2;Q8WWR8	.|.;.;NEUR4_HUMAN	H|T	30|7;7;7;7;19;7;20;46;7;19;7;48	.|ENSP00000385402:P7T;ENSP00000397167:P7T;ENSP00000384804:P7T;ENSP00000397860:P7T;ENSP00000385149:P19T;ENSP00000375830:P7T;ENSP00000320318:P20T;ENSP00000398571:P7T;ENSP00000406678:P19T;ENSP00000388707:P7T;ENSP00000396197:P48T	ENSP00000441629:P30H|ENSP00000320318:P20T	P|P	+|+	2|1	0|0	NEU4|NEU4	242404373|242404373	1.000000|1.000000	0.71417|0.71417	0.011000|0.011000	0.14972|0.14972	0.012000|0.012000	0.07955|0.07955	5.150000|5.150000	0.64869|0.64869	1.587000|1.587000	0.49959|0.49959	0.443000|0.443000	0.29094|0.29094	CCC|CCT		0.687	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741		4	64	4	64	---	---	---	---
OXSM	54995	broad.mit.edu	37	3	25833004	25833004	+	Silent	SNP	T	T	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:25833004T>C	ENST00000280701.3	+	2	592	c.493T>C	c.(493-495)Ttg>Ctg	p.L165L	OXSM_ENST00000420173.2_Silent_p.L165L|NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000449808.1_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	165					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)	p.L165L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TGAAACTGCTTTGAATTTTCA	0.423																																						ENST00000280701.3																			1	Substitution - coding silent(1)	p.L165L(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(493-495)Ttg>Ctg		3-oxoacyl-ACP synthase, mitochondrial							96.0	100.0	99.0					3																	25833004		2203	4300	6503	SO:0001819	synonymous_variant	54995				acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	g.chr3:25833004T>C	BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.493T>C	3.37:g.25833004T>C						OXSM_ENST00000420173.2_Silent_p.L165L|OXSM_ENST00000449808.1_Intron	p.L165L	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN			2	592	+			165						Silent	SNP	ENST00000280701.3	37	c.493T>C	CCDS2643.1																																																																																				0.423	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		29	268	29	268	---	---	---	---
LRRFIP2	9209	broad.mit.edu	37	3	37125219	37125219	+	Silent	SNP	A	A	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:37125219A>G	ENST00000336686.4	-	19	1266	c.1186T>C	c.(1186-1188)Ttg>Ctg	p.L396L	LRRFIP2_ENST00000354379.4_Silent_p.L140L|LRRFIP2_ENST00000440230.1_Silent_p.L164L|LRRFIP2_ENST00000396428.2_Silent_p.L212L|LRRFIP2_ENST00000421307.1_Silent_p.L396L|LRRFIP2_ENST00000421276.2_Silent_p.L164L			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	396					Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.L396L(1)|p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TGGTAGATCAAATTGTTCTTC	0.353																																						ENST00000421307.1																			2	Whole gene deletion(1)|Substitution - coding silent(1)	p.L396L(1)|p.0?(1)	ovary(1)|prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1186-1188)Ttg>Ctg		leucine rich repeat (in FLII) interacting protein 2							201.0	192.0	195.0					3																	37125219		2203	4300	6503	SO:0001819	synonymous_variant	9209				Wnt receptor signaling pathway		LRR domain binding	g.chr3:37125219A>G	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.1186T>C	3.37:g.37125219A>G						LRRFIP2_ENST00000336686.4_Silent_p.L396L|LRRFIP2_ENST00000440230.1_Silent_p.L164L|LRRFIP2_ENST00000421276.2_Silent_p.L164L|LRRFIP2_ENST00000396428.2_Silent_p.L212L|LRRFIP2_ENST00000354379.4_Silent_p.L140L	p.L396L	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN			20	1608	-			396					A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Silent	SNP	ENST00000336686.4	37	c.1186T>C	CCDS2664.1	.	.	.	.	.	.	.	.	.	.	A	10.19	1.283280	0.23392	.	.	ENSG00000093167	ENST00000440742	.	.	.	5.78	0.213	0.15244	.	.	.	.	.	T	0.55705	0.1937	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48514	-0.9029	4	.	.	.	-11.0143	9.2501	0.37549	0.6723:0.0:0.3277:0.0	.	.	.	.	S	8	.	.	F	-	2	0	LRRFIP2	37100223	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.326000	0.43849	0.027000	0.15297	0.459000	0.35465	TTT		0.353	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309		58	207	58	207	---	---	---	---
GRM2	2912	broad.mit.edu	37	3	51750047	51750047	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:51750047C>A	ENST00000395052.3	+	4	2492	c.2258C>A	c.(2257-2259)cCc>cAc	p.P753H	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Missense_Mutation_p.P475H	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	753					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCAAGTGCCCCGAAAACTTC	0.547																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2257-2259)cCc>cAc		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						107.0	89.0	95.0					3																	51750047		2203	4300	6503	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51750047C>A	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.2258C>A	3.37:g.51750047C>A	ENSP00000378492:p.Pro753His					GRM2_ENST00000442933.2_Missense_Mutation_p.P475H|GRM2_ENST00000475478.1_3'UTR	p.P753H	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	2492	+			753					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.2258C>A	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.551175	0.27739	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.90004	-2.6;-2.6	5.08	5.08	0.68730	GPCR, family 3, C-terminal (2);	0.058781	0.64402	D	0.000002	D	0.96617	0.8896	H	0.96943	3.91	0.23010	N	0.998439	D	0.89917	1.0	D	0.97110	1.0	D	0.91345	0.5100	10	0.87932	D	0	.	18.4529	0.90710	0.0:1.0:0.0:0.0	.	753	Q14416	GRM2_HUMAN	H	753;475	ENSP00000378492:P753H;ENSP00000408906:P475H	ENSP00000378492:P753H	P	+	2	0	GRM2	51725087	1.000000	0.71417	0.974000	0.42286	0.299000	0.27559	5.913000	0.69957	2.532000	0.85374	0.549000	0.68633	CCC		0.547	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			4	118	4	118	---	---	---	---
CRYBG3	131544	broad.mit.edu	37	3	97652652	97652652	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:97652652C>A	ENST00000182096.4	+	15	2576	c.2512C>A	c.(2512-2514)Cag>Aag	p.Q838K	CRYBG3_ENST00000389622.2_Missense_Mutation_p.Q45K|CRYBG3_ENST00000485253.1_3'UTR	NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2786							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						CTTCTACACCCAGTCTGTGTG	0.453																																						ENST00000182096.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(2512-2514)Cag>Aag		beta-gamma crystallin domain containing 3							118.0	114.0	115.0					3																	97652652		1875	4107	5982	SO:0001583	missense	131544							g.chr3:97652652C>A			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.2512C>A	3.37:g.97652652C>A	ENSP00000182096:p.Gln838Lys					CRYBG3_ENST00000485253.1_3'UTR|CRYBG3_ENST00000389622.2_Missense_Mutation_p.Q45K	p.Q838K	NM_153605.3	NP_705833.3					15	2576	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37	c.2512C>A		.	.	.	.	.	.	.	.	.	.	C	16.07	3.018822	0.54576	.	.	ENSG00000080200	ENST00000182096;ENST00000495403;ENST00000389622	T;T;T	0.75821	-0.97;-0.97;-0.97	5.5	5.5	0.81552	Beta/gamma crystallin (3);Gamma-crystallin-related (1);	0.279079	0.31484	N	0.007574	D	0.84866	0.5567	M	0.62723	1.935	0.41321	D	0.987177	D	0.76494	0.999	D	0.81914	0.995	T	0.82841	-0.0258	10	0.37606	T	0.19	.	19.7571	0.96298	0.0:1.0:0.0:0.0	.	838	Q68DQ2	CRBG3_HUMAN	K	838;44;45	ENSP00000182096:Q838K;ENSP00000418420:Q44K;ENSP00000374273:Q45K	ENSP00000182096:Q838K	Q	+	1	0	CRYBG3	99135342	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.687000	0.54692	2.758000	0.94735	0.561000	0.74099	CAG		0.453	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		5	182	5	182	---	---	---	---
SLC12A8	84561	broad.mit.edu	37	3	124810946	124810946	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:124810946C>A	ENST00000393469.4	-	10	1851	c.1802G>T	c.(1801-1803)gGg>gTg	p.G601V	SLC12A8_ENST00000423114.2_Splice_Site_p.G630V|SLC12A8_ENST00000469902.1_Splice_Site_p.G601V|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000430155.2_Splice_Site_p.G402V	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	601					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						GTTACTCACCCCCAACAGGGA	0.493																																						ENST00000423114.2																			0				endometrium(2)|kidney(2)|lung(12)	16						c.(1888-1890)gGg>gTg		solute carrier family 12, member 8							61.0	65.0	64.0					3																	124810946		1886	4111	5997	SO:0001630	splice_region_variant	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124810946C>A		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.1803+1G>T	3.37:g.124810946C>A						SLC12A8_ENST00000469902.1_Splice_Site_p.G601V|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000430155.2_Splice_Site_p.G402V|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000393469.4_Splice_Site_p.G601V	p.G630V			A0AV02	S12A8_HUMAN			11	1888	-			601					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Splice_Site	SNP	ENST00000393469.4	37	c.1889G>T	CCDS43143.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451326	0.84209	.	.	ENSG00000221955	ENST00000430155;ENST00000393469;ENST00000423114;ENST00000469902	D;D;D;D	0.94138	-2.8;-3.32;-3.36;-3.32	5.39	5.39	0.77823	.	.	.	.	.	D	0.96454	0.8843	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.994;0.999	D	0.96715	0.9528	9	0.87932	D	0	.	16.993	0.86359	0.0:1.0:0.0:0.0	.	630;601;402	A0AV02-2;A0AV02;A0AV02-3	.;S12A8_HUMAN;.	V	402;601;630;601	ENSP00000415713:G402V;ENSP00000377112:G601V;ENSP00000404243:G630V;ENSP00000418783:G601V	ENSP00000377112:G601V	G	-	2	0	SLC12A8	126293636	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.130000	0.64745	2.689000	0.91719	0.557000	0.71058	GGG		0.493	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628	Missense_Mutation	5	117	5	117	---	---	---	---
IFT80	57560	broad.mit.edu	37	3	160037613	160037613	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:160037613C>T	ENST00000326448.7	-	9	1324	c.892G>A	c.(892-894)Gtg>Atg	p.V298M	IFT80_ENST00000483465.1_Missense_Mutation_p.V161M|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.V469M|IFT80_ENST00000496589.1_Missense_Mutation_p.V161M	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	298					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)		p.V298M(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGTTCCACCACATGTGCAAAA	0.398																																						ENST00000326448.7																			1	Substitution - Missense(1)	p.V298M(1)	prostate(1)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(892-894)Gtg>Atg		intraflagellar transport 80 homolog (Chlamydomonas)							125.0	124.0	124.0					3																	160037613		2203	4300	6503	SO:0001583	missense	57560					cilium axoneme|microtubule basal body		g.chr3:160037613C>T	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.892G>A	3.37:g.160037613C>T	ENSP00000312778:p.Val298Met					RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.V469M|IFT80_ENST00000496589.1_Missense_Mutation_p.V161M|IFT80_ENST00000483465.1_Missense_Mutation_p.V161M	p.V298M	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		9	1324	-			298					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	c.892G>A	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096380	0.76870	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589	T;T;T	0.18657	2.2;4.94;4.94	4.7	3.81	0.43845	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.117209	0.33772	U	0.004575	T	0.30634	0.0771	M	0.75777	2.31	0.46564	D	0.999107	P	0.50272	0.933	P	0.48030	0.564	T	0.10474	-1.0628	10	0.62326	D	0.03	.	9.8599	0.41107	0.0:0.8408:0.0:0.1592	.	298	Q9P2H3	IFT80_HUMAN	M	298;161;161	ENSP00000312778:V298M;ENSP00000418196:V161M;ENSP00000420646:V161M	ENSP00000312778:V298M	V	-	1	0	IFT80	161520307	0.879000	0.30193	1.000000	0.80357	0.989000	0.77384	1.651000	0.37302	1.291000	0.44653	0.555000	0.69702	GTG		0.398	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		8	219	8	219	---	---	---	---
SEL1L3	23231	broad.mit.edu	37	4	25849008	25849008	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:25849008G>T	ENST00000399878.3	-	2	763	c.641C>A	c.(640-642)cCt>cAt	p.P214H	SEL1L3_ENST00000264868.5_Missense_Mutation_p.P179H|SEL1L3_ENST00000502949.1_Missense_Mutation_p.P61H|SEL1L3_ENST00000513364.1_Intron	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	214						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATCTTTGAAAGGGCGTTCAAA	0.463																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(640-642)cCt>cAt		sel-1 suppressor of lin-12-like 3 (C. elegans)							103.0	96.0	98.0					4																	25849008		1917	4125	6042	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25849008G>T	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.641C>A	4.37:g.25849008G>T	ENSP00000382767:p.Pro214His					SEL1L3_ENST00000502949.1_Missense_Mutation_p.P61H|SEL1L3_ENST00000264868.5_Missense_Mutation_p.P179H|SEL1L3_ENST00000513364.1_Intron	p.P214H	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			2	763	-			214					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.641C>A	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547175	0.86022	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949;ENST00000510880;ENST00000513691	T;T;T	0.18657	2.2;2.2;2.2	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.48409	0.1498	M	0.65498	2.005	0.48135	D	0.999595	D	0.89917	1.0	D	0.97110	1.0	T	0.44997	-0.9291	10	0.87932	D	0	-13.5317	19.6562	0.95842	0.0:0.0:1.0:0.0	.	214	Q68CR1	SE1L3_HUMAN	H	214;179;61;61;61	ENSP00000382767:P214H;ENSP00000264868:P179H;ENSP00000425438:P61H	ENSP00000264868:P179H	P	-	2	0	SEL1L3	25458106	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.159000	0.77483	2.639000	0.89480	0.555000	0.69702	CCT		0.463	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		5	139	5	139	---	---	---	---
ARAP2	116984	broad.mit.edu	37	4	36130284	36130284	+	Silent	SNP	T	T	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:36130284T>G	ENST00000303965.4	-	21	4000	c.3511A>C	c.(3511-3513)Aga>Cga	p.R1171R		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1171	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.R1171R(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTAAAGCTTCTTGCATCCTTT	0.358																																						ENST00000303965.4																			1	Substitution - coding silent(1)	p.R1171R(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(3511-3513)Aga>Cga		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2							103.0	101.0	101.0					4																	36130284		2203	4300	6503	SO:0001819	synonymous_variant	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36130284T>G	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3511A>C	4.37:g.36130284T>G							p.R1171R	NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			21	4000	-			1171			Rho-GAP.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	c.3511A>C	CCDS3441.1																																																																																				0.358	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		11	175	11	175	---	---	---	---
MRPL1	65008	broad.mit.edu	37	4	78784032	78784032	+	Splice_Site	SNP	A	A	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:78784032A>C	ENST00000315567.8	+	1	359	c.30A>C	c.(28-30)agA>agC	p.R10S		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	10					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R10S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						GCATGGGTAGAGGTAAGGCGA	0.537																																						ENST00000315567.8																			1	Substitution - Missense(1)	p.R10S(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						c.(28-30)agA>agC		mitochondrial ribosomal protein L1							126.0	144.0	138.0					4																	78784032		1961	4143	6104	SO:0001630	splice_region_variant	65008						RNA binding	g.chr4:78784032A>C	AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288		"""Mitochondrial ribosomal proteins / large subunits"""	14275	protein-coding gene	gene with protein product		611821					Standard	NM_020236		Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.31+1A>C	4.37:g.78784032A>C							p.R10S	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN			1	359	+			10					A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Splice_Site	SNP	ENST00000315567.8	37	c.30A>C	CCDS3583.2	.	.	.	.	.	.	.	.	.	.	A	12.16	1.854638	0.32791	.	.	ENSG00000169288	ENST00000315567	T	0.32753	1.44	4.52	-0.479	0.12089	.	0.333132	0.20058	U	0.100145	T	0.25494	0.0620	L	0.39898	1.24	0.28380	N	0.919598	P	0.41420	0.749	P	0.45753	0.492	T	0.14309	-1.0477	10	0.33141	T	0.24	-1.4521	7.1856	0.25797	0.6144:0.0:0.3856:0.0	.	10	Q9BYD6	RM01_HUMAN	S	10	ENSP00000315017:R10S	ENSP00000315017:R10S	R	+	3	2	MRPL1	79003056	1.000000	0.71417	0.474000	0.27266	0.021000	0.10359	1.420000	0.34804	-0.049000	0.13379	-0.923000	0.02734	AGA		0.537	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3	NM_020236	Missense_Mutation	6	169	6	169	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114279714	114279714	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:114279714C>A	ENST00000357077.4	+	38	9993	c.9940C>A	c.(9940-9942)Cca>Aca	p.P3314T	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P3281T|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3314					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CACTTCCACCCCAGCACCTCC	0.428																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(9940-9942)Cca>Aca		ankyrin 2, neuronal							104.0	102.0	103.0					4																	114279714		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114279714C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9940C>A	4.37:g.114279714C>A	ENSP00000349588:p.Pro3314Thr					ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P3281T|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	p.P3314T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	9993	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3281					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.9940C>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	3.217	-0.160398	0.06502	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.95949	-0.19;-0.21;-3.86	5.51	0.683	0.17998	.	0.493081	0.18623	N	0.135815	D	0.90072	0.6899	L	0.44542	1.39	0.09310	N	1	B;B	0.23249	0.049;0.082	B;B	0.25140	0.026;0.058	T	0.78588	-0.2146	10	0.29301	T	0.29	.	3.3639	0.07197	0.1227:0.5771:0.1189:0.1813	.	3281;3314	Q01484;Q01484-4	ANK2_HUMAN;.	T	3314;3281;324	ENSP00000349588:P3314T;ENSP00000264366:P3281T;ENSP00000422498:P324T	ENSP00000264366:P3281T	P	+	1	0	ANK2	114499163	0.000000	0.05858	0.001000	0.08648	0.446000	0.32137	-0.323000	0.07997	-0.222000	0.09958	0.650000	0.86243	CCA		0.428	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		8	305	8	305	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073378	134073378	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:134073378G>T	ENST00000264360.5	+	1	2909	c.2083G>T	c.(2083-2085)Ggg>Tgg	p.G695W		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	695					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		cggaggcggaggGTCAGGAGA	0.697																																						ENST00000264360.5																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2083-2085)Ggg>Tgg		protocadherin 10							49.0	59.0	55.0					4																	134073378		2201	4299	6500	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073378G>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2083G>T	4.37:g.134073378G>T	ENSP00000264360:p.Gly695Trp						p.G695W	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2909	+								Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2083G>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849737	0.51270	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53423	0.62	4.48	4.48	0.54585	.	0.000000	0.43919	D	0.000519	T	0.48114	0.1482	L	0.39898	1.24	0.37328	D	0.909847	P;P	0.45474	0.859;0.859	B;P	0.46885	0.406;0.53	T	0.60444	-0.7262	10	0.87932	D	0	.	16.1033	0.81203	0.0:0.0:1.0:0.0	.	695;695	Q9P2E7;Q96SF0	PCD10_HUMAN;.	W	695	ENSP00000264360:G695W	ENSP00000264360:G695W	G	+	1	0	PCDH10	134292828	0.926000	0.31397	0.991000	0.47740	0.993000	0.82548	0.090000	0.15025	2.322000	0.78497	0.561000	0.74099	GGG		0.697	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		4	79	4	79	---	---	---	---
RAPGEF2	9693	broad.mit.edu	37	4	160275188	160275188	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:160275188G>T	ENST00000264431.4	+	22	4577	c.4158G>T	c.(4156-4158)aaG>aaT	p.K1386N		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1386					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GTACTACAAAGGGGCTCATTG	0.423																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(4156-4158)aaG>aaT		Rap guanine nucleotide exchange factor (GEF) 2							36.0	37.0	37.0					4																	160275188		1813	3986	5799	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160275188G>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.4158G>T	4.37:g.160275188G>T	ENSP00000264431:p.Lys1386Asn						p.K1386N	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	22	4577	+	all_hematologic(180;0.24)		1386					D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.4158G>T	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.56|17.56	3.420574|3.420574	0.62622|0.62622	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000505026|ENST00000264431	.|T	.|0.55413	.|0.52	6.17|6.17	4.47|4.47	0.54385|0.54385	.|.	.|0.092230	.|0.64402	.|D	.|0.000001	T|T	0.52306|0.52306	0.1726|0.1726	L|L	0.58810|0.58810	1.83|1.83	0.58432|0.58432	D|D	0.999992|0.999992	.|B	.|0.30281	.|0.275	.|B	.|0.37047	.|0.24	T|T	0.54084|0.54084	-0.8346|-0.8346	5|10	.|0.87932	.|D	.|0	.|.	10.3602|10.3602	0.43989|0.43989	0.1984:0.0:0.8016:0.0|0.1984:0.0:0.8016:0.0	.|.	.|1386	.|Q9Y4G8	.|RPGF2_HUMAN	W|N	321|1386	.|ENSP00000264431:K1386N	.|ENSP00000264431:K1386N	G|K	+|+	1|3	0|2	RAPGEF2|RAPGEF2	160494638|160494638	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.857000|0.857000	0.48899|0.48899	1.542000|1.542000	0.36137|0.36137	0.953000|0.953000	0.37825|0.37825	0.655000|0.655000	0.94253|0.94253	GGG|AAG		0.423	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		4	61	4	61	---	---	---	---
KLHL2	11275	broad.mit.edu	37	4	166243184	166243184	+	Splice_Site	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:166243184G>T	ENST00000226725.6	+	15	2013	c.1754G>T	c.(1753-1755)gGg>gTg	p.G585V	KLHL2_ENST00000538127.1_Splice_Site_p.G497V|KLHL2_ENST00000514860.1_Splice_Site_p.G589V|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000506761.1_Splice_Site_p.G419V|KLHL2_ENST00000421009.2_Splice_Site_p.G488V	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	585					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		CTTTGCTCAGGGGTCACAGTT	0.378																																						ENST00000226725.6																			0				endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(1753-1755)gGg>gTg		kelch-like family member 2							181.0	180.0	180.0					4																	166243184		2203	4300	6503	SO:0001630	splice_region_variant	11275				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	g.chr4:166243184G>T	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1754-1G>T	4.37:g.166243184G>T						KLHL2_ENST00000538127.1_Splice_Site_p.G497V|KLHL2_ENST00000421009.2_Splice_Site_p.G488V|KLHL2_ENST00000514860.1_Splice_Site_p.G589V|KLHL2_ENST00000506761.1_Splice_Site_p.G419V|KLHL2_ENST00000509028.1_3'UTR	p.G585V	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN		GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)	15	2013	+	all_hematologic(180;0.221)		585					A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Splice_Site	SNP	ENST00000226725.6	37	c.1754G>T	CCDS34094.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492340	0.64074	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	T;T;T;T;T	0.75704	-0.37;-0.37;-0.96;-0.37;-0.74	5.68	5.68	0.88126	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.91570	0.7337	H	0.96916	3.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.93855	0.7148	9	.	.	.	.	19.7939	0.96471	0.0:0.0:1.0:0.0	.	589;585	B4DFH7;O95198	.;KLHL2_HUMAN	V	585;589;497;488;419	ENSP00000226725:G585V;ENSP00000424198:G589V;ENSP00000437526:G497V;ENSP00000408974:G488V;ENSP00000424108:G419V	.	G	+	2	0	KLHL2	166462634	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.550000	0.82173	2.668000	0.90789	0.563000	0.77884	GGG		0.378	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1		Missense_Mutation	5	301	5	301	---	---	---	---
ING2	3622	broad.mit.edu	37	4	184431718	184431718	+	Silent	SNP	C	C	A	rs201346892		TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:184431718C>A	ENST00000302327.3	+	2	658	c.456C>A	c.(454-456)ccC>ccA	p.P152P	ING2_ENST00000434682.2_Silent_p.P112P	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	152					chromatin modification (GO:0016568)|male germ-line stem cell asymmetric division (GO:0048133)|male meiosis I (GO:0007141)|negative regulation of cell proliferation (GO:0008285)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cellular senescence (GO:2000772)|regulation of growth (GO:0040008)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|seminiferous tubule development (GO:0072520)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleus (GO:0005634)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CAAGAAGACCCCGCAGGCAGC	0.458																																						ENST00000302327.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(454-456)ccC>ccA		inhibitor of growth family, member 2							56.0	60.0	58.0					4																	184431718		2203	4300	6503	SO:0001819	synonymous_variant	3622				chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding	g.chr4:184431718C>A	AB012853	CCDS3833.1	4q35.1	2013-01-28	2005-02-10	2005-02-11	ENSG00000168556	ENSG00000168556		"""Zinc fingers, PHD-type"""	6063	protein-coding gene	gene with protein product		604215	"""inhibitor of growth family, member 1-like"""	ING1L		10072587	Standard	XM_005262982		Approved	p33ING2	uc003ivs.1	Q9H160	OTTHUMG00000150502	ENST00000302327.3:c.456C>A	4.37:g.184431718C>A						ING2_ENST00000434682.2_Silent_p.P112P	p.P152P	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	2	658	+		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)	152					B6ZDS1|O95698	Silent	SNP	ENST00000302327.3	37	c.456C>A	CCDS3833.1																																																																																				0.458	ING2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318652.1	NM_001564		4	94	4	94	---	---	---	---
KLKB1	3818	broad.mit.edu	37	4	187175748	187175748	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:187175748C>A	ENST00000264690.6	+	12	1507	c.1320C>A	c.(1318-1320)ccC>ccA	p.P440P	KLKB1_ENST00000513864.1_Silent_p.P440P	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	440	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CTAGGCTTCCCCTGCAGGATG	0.373																																						ENST00000264690.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(1318-1320)ccC>ccA		kallikrein B, plasma (Fletcher factor) 1							122.0	119.0	120.0					4																	187175748		2203	4300	6503	SO:0001819	synonymous_variant	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187175748C>A	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1320C>A	4.37:g.187175748C>A						KLKB1_ENST00000513864.1_Silent_p.P440P	p.P440P	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	12	1507	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	440			Peptidase S1.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Silent	SNP	ENST00000264690.6	37	c.1320C>A	CCDS34120.1	.	.	.	.	.	.	.	.	.	.	C	2.297	-0.361013	0.05103	.	.	ENSG00000164344	ENST00000511608	D	0.93019	-3.15	5.8	0.366	0.16136	.	1.901350	0.02138	N	0.056881	D	0.89972	0.6870	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.79087	-0.1947	7	0.49607	T	0.09	.	3.9736	0.09464	0.1901:0.5218:0.0944:0.1936	.	.	.	.	H	488	ENSP00000426629:P488H	ENSP00000426629:P488H	P	+	2	0	KLKB1	187412742	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.002000	0.12924	0.081000	0.16988	-0.150000	0.13652	CCC		0.373	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		6	291	6	291	---	---	---	---
BRD9	65980	broad.mit.edu	37	5	884166	884166	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:884166C>A	ENST00000467963.1	-	8	1019	c.853G>T	c.(853-855)Ggg>Tgg	p.G285W	BRD9_ENST00000483173.1_Missense_Mutation_p.G232W|BRD9_ENST00000435709.2_Missense_Mutation_p.G169W|BRD9_ENST00000323510.4_Missense_Mutation_p.G189W|BRD9_ENST00000388890.4_Missense_Mutation_p.G169W|BRD9_ENST00000494422.1_Intron	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	285					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CAGGCATTCCCTTCAGGCTCA	0.627																																						ENST00000323510.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29						c.(565-567)Ggg>Tgg		bromodomain containing 9							104.0	83.0	90.0					5																	884166		2203	4300	6503	SO:0001583	missense	65980						nucleic acid binding	g.chr5:884166C>A	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.853G>T	5.37:g.884166C>A	ENSP00000419765:p.Gly285Trp					BRD9_ENST00000435709.2_Missense_Mutation_p.G169W|BRD9_ENST00000467963.1_Missense_Mutation_p.G285W|BRD9_ENST00000494422.1_Intron|BRD9_ENST00000483173.1_Missense_Mutation_p.G232W|BRD9_ENST00000388890.4_Missense_Mutation_p.G169W	p.G189W			Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		5	564	-			285			Bromo.		A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	ENST00000467963.1	37	c.565G>T	CCDS34127.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978518	0.74360	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000483173;ENST00000467963;ENST00000435709;ENST00000489093	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.03	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.983;0.986;0.986	T	0.63116	-0.6709	10	0.35671	T	0.21	-41.8885	13.0421	0.58906	0.0:0.9208:0.0:0.0792	.	232;285;189;169	B4DMQ2;Q9H8M2;Q9H8M2-1;Q9H8M2-3	.;BRD9_HUMAN;.;.	W	189;169;232;285;169;189	ENSP00000323557:G189W;ENSP00000373542:G169W;ENSP00000419845:G232W;ENSP00000419765:G285W;ENSP00000402984:G169W;ENSP00000420722:G189W	ENSP00000323557:G189W	G	-	1	0	BRD9	937166	1.000000	0.71417	0.496000	0.27539	0.907000	0.53573	7.030000	0.76484	1.105000	0.41606	0.609000	0.83330	GGG		0.627	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		4	111	4	111	---	---	---	---
OTULIN	90268	broad.mit.edu	37	5	14687628	14687628	+	Splice_Site	SNP	A	A	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:14687628A>T	ENST00000284274.4	+	5	546		c.e5-1			NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN							canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					TCGATGTTGTAGTTACCAGAA	0.348																																						ENST00000284274.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14						c.e5-1		family with sequence similarity 105, member B							114.0	116.0	115.0					5																	14687628		1837	4102	5939	SO:0001630	splice_region_variant	90268							g.chr5:14687628A>T																												ENST00000284274.4:c.469-1A>T	5.37:g.14687628A>T								NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN			5	546	+	Lung NSC(4;0.00696)							D3DTD3|Q8NAS0|Q96IA3	Splice_Site	SNP	ENST00000284274.4	37		CCDS43302.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.065430	0.76187	.	.	ENSG00000154124	ENST00000284274	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3294	0.66545	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM105B	14740628	1.000000	0.71417	0.959000	0.39883	0.989000	0.77384	6.015000	0.70791	2.317000	0.78254	0.460000	0.39030	.		0.348	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1		Intron	5	192	5	192	---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38412623	38412623	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:38412623G>T	ENST00000354891.3	+	11	1713	c.1367G>T	c.(1366-1368)gGg>gTg	p.G456V	EGFLAM_ENST00000336740.6_Missense_Mutation_p.G222V|EGFLAM_ENST00000397202.2_5'UTR|EGFLAM_ENST00000322350.5_Missense_Mutation_p.G456V	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	456	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGTGGAACTGGGGTTGCCATC	0.478																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(1366-1368)gGg>gTg		EGF-like, fibronectin type III and laminin G domains							99.0	98.0	98.0					5																	38412623		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38412623G>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1367G>T	5.37:g.38412623G>T	ENSP00000346964:p.Gly456Val					EGFLAM_ENST00000336740.6_Missense_Mutation_p.G222V|EGFLAM_ENST00000397202.2_5'UTR|EGFLAM_ENST00000354891.3_Missense_Mutation_p.G456V	p.G456V	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			11	1713	+	all_lung(31;0.000385)		456			Laminin G-like 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.1367G>T	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826538	0.90955	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	D;D;D	0.82344	-1.6;-1.6;-1.6	6.07	6.07	0.98685	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.93360	0.7883	M	0.90483	3.12	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.93541	0.6878	10	0.87932	D	0	-17.6545	20.6439	0.99570	0.0:0.0:1.0:0.0	.	222;456;456	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	V	456;456;222;222	ENSP00000346964:G456V;ENSP00000313084:G456V;ENSP00000337607:G222V	ENSP00000313084:G456V	G	+	2	0	EGFLAM	38448380	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	9.273000	0.95719	2.890000	0.99128	0.650000	0.86243	GGG		0.478	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		4	124	4	124	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82817528	82817528	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:82817528G>T	ENST00000265077.3	+	7	3968	c.3403G>T	c.(3403-3405)Ggg>Tgg	p.G1135W	VCAN_ENST00000512590.2_Missense_Mutation_p.G1087W|VCAN_ENST00000342785.4_Missense_Mutation_p.G1135W|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1135	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TTTAAGTCCAGGGCCTGAACA	0.408																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(3403-3405)Ggg>Tgg		versican							74.0	69.0	71.0					5																	82817528		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82817528G>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.3403G>T	5.37:g.82817528G>T	ENSP00000265077:p.Gly1135Trp					VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.G1087W|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.G1135W	p.G1135W	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	3968	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1135			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.3403G>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	1.426	-0.571556	0.03882	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.86562	-2.0;-2.11;-2.14	5.6	2.21	0.28008	.	1.195640	0.05999	N	0.647455	T	0.76097	0.3940	N	0.12182	0.205	0.09310	N	1	B;B	0.15473	0.006;0.013	B;B	0.12156	0.005;0.007	T	0.63242	-0.6681	10	0.44086	T	0.13	.	6.2193	0.20673	0.1846:0.0:0.6626:0.1528	.	1135;1135	P13611-3;P13611	.;CSPG2_HUMAN	W	1135;1135;1087	ENSP00000265077:G1135W;ENSP00000342768:G1135W;ENSP00000425959:G1087W	ENSP00000265077:G1135W	G	+	1	0	VCAN	82853284	0.008000	0.16893	0.004000	0.12327	0.130000	0.20726	1.406000	0.34646	0.643000	0.30638	0.591000	0.81541	GGG		0.408	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		5	173	5	173	---	---	---	---
RHOBTB3	22836	broad.mit.edu	37	5	95067626	95067626	+	Silent	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:95067626G>T	ENST00000379982.3	+	2	574	c.66G>T	c.(64-66)tcG>tcT	p.S22S	RHOBTB3_ENST00000515852.1_3'UTR|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000506817.1_Silent_p.S22S|CTD-2154I11.2_ENST00000513235.1_RNA	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	22	Rho-like.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		ACCGGCCGTCGGGGCTTATCC	0.657																																						ENST00000379982.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16						c.(64-66)tcG>tcT		Rho-related BTB domain containing 3							38.0	39.0	38.0					5																	95067626		2203	4300	6503	SO:0001819	synonymous_variant	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95067626G>T	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.66G>T	5.37:g.95067626G>T						RHOBTB3_ENST00000515852.1_3'UTR|CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000506817.1_Silent_p.S22S	p.S22S	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	2	574	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	22			Rho-like.		A0PJA4|A8K1W9|Q8IW06	Silent	SNP	ENST00000379982.3	37	c.66G>T	CCDS4077.1																																																																																				0.657	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		3	62	3	62	---	---	---	---
APC	324	broad.mit.edu	37	5	112154851	112154851	+	Silent	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:112154851G>T	ENST00000457016.1	+	10	1502	c.1122G>T	c.(1120-1122)cgG>cgT	p.R374R	APC_ENST00000508376.2_Silent_p.R374R|APC_ENST00000257430.4_Silent_p.R374R			P25054	APC_HUMAN	adenomatous polyposis coli	374	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAAATTCCCGGGGCAGTAAAG	0.512		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		0				NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(1120-1122)cgG>cgT		adenomatous polyposis coli							65.0	61.0	62.0					5																	112154851		2202	4300	6502	SO:0001819	synonymous_variant	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112154851G>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1122G>T	5.37:g.112154851G>T		TSP Lung(16;0.13)				APC_ENST00000508376.2_Silent_p.R374R|APC_ENST00000257430.4_Silent_p.R374R	p.R374R			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	10	1502	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	374			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	c.1122G>T	CCDS4107.1																																																																																				0.512	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		4	101	4	101	---	---	---	---
HARS	3035	broad.mit.edu	37	5	140056698	140056698	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:140056698C>A	ENST00000504156.1	-	9	1546	c.827G>T	c.(826-828)gGg>gTg	p.G276V	HARS_ENST00000415192.2_Missense_Mutation_p.G202V|HARS_ENST00000504366.1_Missense_Mutation_p.G207V|HARS_ENST00000438307.2_Missense_Mutation_p.G236V|HARS_ENST00000307633.3_Missense_Mutation_p.G216V|HARS_ENST00000457527.2_Missense_Mutation_p.G256V|HARS_ENST00000431330.2_Missense_Mutation_p.G162V|HARS_ENST00000448240.1_Missense_Mutation_p.G81V	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	276					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CAGGGATACCCCACCTGGGGA	0.532																																						ENST00000504366.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(619-621)gGg>gTg		histidyl-tRNA synthetase	L-Histidine(DB00117)						149.0	159.0	156.0					5																	140056698		2203	4300	6503	SO:0001583	missense	3035				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	g.chr5:140056698C>A	AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4816	protein-coding gene	gene with protein product	"""histidine tRNA ligase 1, cytoplasmic"""	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.827G>T	5.37:g.140056698C>A	ENSP00000425634:p.Gly276Val					HARS_ENST00000438307.2_Missense_Mutation_p.G236V|HARS_ENST00000431330.2_Missense_Mutation_p.G162V|HARS_ENST00000457527.2_Missense_Mutation_p.G256V|HARS_ENST00000504156.1_Missense_Mutation_p.G276V|HARS_ENST00000307633.3_Missense_Mutation_p.G216V|HARS_ENST00000448240.1_Missense_Mutation_p.G81V|HARS_ENST00000415192.2_Missense_Mutation_p.G202V	p.G207V			P12081	SYHC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	2439	-			276					B4DHQ1|B4DY73|D6REN6|J3KNE5	Missense_Mutation	SNP	ENST00000504156.1	37	c.620G>T	CCDS4237.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776859	0.70107	.	.	ENSG00000170445	ENST00000504156;ENST00000457527;ENST00000431330;ENST00000504366;ENST00000307633;ENST00000448240;ENST00000438307;ENST00000415192;ENST00000507746	T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.11	4.24	0.50183	Aminoacyl-tRNA synthetase, class II (1);	0.095665	0.64402	D	0.000001	T	0.65544	0.2701	M	0.81239	2.535	0.80722	D	1	D;B;D;D;D;P;P;P	0.89917	1.0;0.367;0.965;0.986;0.973;0.749;0.934;0.899	D;B;D;P;P;P;P;P	0.91635	0.999;0.309;0.922;0.903;0.903;0.58;0.903;0.703	T	0.71038	-0.4708	10	0.62326	D	0.03	-6.823	14.1267	0.65225	0.0:0.9275:0.0:0.0725	.	166;162;202;216;236;276;256;276	B4DEA2;B4E1C5;B4DDD8;B4DHQ1;B4DY73;Q52NV4;D6REN6;P12081	.;.;.;.;.;.;.;SYHC_HUMAN	V	276;256;162;207;216;81;236;202;166	ENSP00000425634:G276V;ENSP00000387893:G256V;ENSP00000393244:G162V;ENSP00000430063:G207V;ENSP00000304668:G216V;ENSP00000413605:G81V;ENSP00000411511:G236V;ENSP00000411085:G202V;ENSP00000425889:G166V	ENSP00000304668:G216V	G	-	2	0	HARS	140036882	1.000000	0.71417	0.960000	0.40013	0.501000	0.33797	5.426000	0.66476	1.517000	0.48917	0.563000	0.77884	GGG		0.532	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109		7	465	7	465	---	---	---	---
ADRB2	154	broad.mit.edu	37	5	148207351	148207351	+	Silent	SNP	T	T	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:148207351T>G	ENST00000305988.4	+	1	1196	c.957T>G	c.(955-957)tcT>tcG	p.S319S		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	319					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)	p.S319S(1)		endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	ATGTCAATTCTGGTTTCAATC	0.478																																						ENST00000305988.4																			1	Substitution - coding silent(1)	p.S319S(1)	prostate(1)	endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14						c.(955-957)tcT>tcG		adrenoceptor beta 2, surface	Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)						92.0	90.0	91.0					5																	148207351		2203	4300	6503	SO:0001819	synonymous_variant	154				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	g.chr5:148207351T>G	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"""GPCR / Class A : Adrenoceptors : beta"""	286	protein-coding gene	gene with protein product		109690	"""adrenergic, beta-2-, receptor, surface"""	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.957T>G	5.37:g.148207351T>G							p.S319S	NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1196	+			319					B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Silent	SNP	ENST00000305988.4	37	c.957T>G	CCDS4292.1																																																																																				0.478	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	NM_000024		15	142	15	142	---	---	---	---
AFAP1L1	134265	broad.mit.edu	37	5	148691735	148691735	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:148691735C>A	ENST00000296721.4	+	9	1086	c.988C>A	c.(988-990)Cca>Aca	p.P330T	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.P330T	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	330						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCAGATCCCCAGTCCTCCT	0.597																																						ENST00000296721.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(988-990)Cca>Aca		actin filament associated protein 1-like 1							115.0	107.0	110.0					5																	148691735		2203	4300	6503	SO:0001583	missense	134265						protein binding	g.chr5:148691735C>A	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.988C>A	5.37:g.148691735C>A	ENSP00000296721:p.Pro330Thr					AFAP1L1_ENST00000515000.1_Missense_Mutation_p.P330T	p.P330T	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1086	+			330					Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	c.988C>A	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214901	0.58452	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.17691	2.28;2.26	6.04	6.04	0.98038	.	0.050922	0.85682	D	0.000000	T	0.45577	0.1349	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.994;0.922;0.998	T	0.16719	-1.0393	10	0.59425	D	0.04	-3.7591	20.5792	0.99380	0.0:1.0:0.0:0.0	.	330;330;330	Q8TED9-2;Q8TED9;Q8TED9-3	.;AF1L1_HUMAN;.	T	330	ENSP00000296721:P330T;ENSP00000424427:P330T	ENSP00000296721:P330T	P	+	1	0	AFAP1L1	148671928	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	5.008000	0.63991	2.873000	0.98535	0.561000	0.74099	CCA		0.597	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		6	259	6	259	---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154181820	154181820	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:154181820C>A	ENST00000336314.4	+	11	1763	c.1739C>A	c.(1738-1740)cCa>cAa	p.P580Q		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	657					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGCCGGCACCCAGGGGGGGAC	0.547																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1738-1740)cCa>cAa		La ribonucleoprotein domain family, member 1							81.0	77.0	78.0					5																	154181820		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154181820C>A	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1739C>A	5.37:g.154181820C>A	ENSP00000336721:p.Pro580Gln						p.P580Q	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		11	1763	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	657					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.1739C>A	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	C	33	5.270299	0.95429	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248	T;T;T	0.34859	1.82;1.34;1.38	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	M	0.79805	2.47	0.80722	D	1	D;D	0.69078	0.997;0.961	D;D	0.63957	0.92;0.914	T	0.61530	-0.7044	10	0.49607	T	0.09	-10.0479	20.8794	0.99867	0.0:1.0:0.0:0.0	.	657;580	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	Q	580;657;452	ENSP00000336721:P580Q;ENSP00000428589:P657Q;ENSP00000429904:P452Q	ENSP00000336721:P580Q	P	+	2	0	LARP1	154162013	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.755000	0.85180	2.941000	0.99782	0.655000	0.94253	CCA		0.547	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		6	196	6	196	---	---	---	---
HAVCR1	26762	broad.mit.edu	37	5	156479438	156479438	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:156479438G>A	ENST00000339252.3	-	3	1139	c.607C>T	c.(607-609)Cca>Tca	p.P203S	HAVCR1_ENST00000544197.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000425854.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000523175.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000522693.1_Missense_Mutation_p.P203S	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	Thr-rich.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)	p.P203S(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTGTCACTGGAACACTTGTT	0.468																																						ENST00000339252.3																			1	Substitution - Missense(1)	p.P203S(1)	prostate(1)	endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(607-609)Cca>Tca		hepatitis A virus cellular receptor 1							360.0	352.0	355.0					5																	156479438		2068	4209	6277	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156479438G>A	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.607C>T	5.37:g.156479438G>A	ENSP00000344844:p.Pro203Ser					HAVCR1_ENST00000544197.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000522693.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000523175.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000425854.1_Missense_Mutation_p.P203S	p.P203S	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	1139	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	198			Thr-rich.		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	c.607C>T	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901641	0.33535	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.23552	2.07;2.11;2.11;2.07;2.11;1.9	3.32	2.43	0.29744	.	.	.	.	.	T	0.20210	0.0486	N	0.14661	0.345	0.26389	N	0.976618	D;D;D	0.56968	0.978;0.978;0.978	P;P;P	0.51170	0.661;0.568;0.568	T	0.08576	-1.0715	9	0.33141	T	0.24	-11.6421	8.2785	0.31887	0.1233:0.0:0.8767:0.0	.	203;198;198	E9PFX0;F1CME6;Q96D42	.;.;HAVR1_HUMAN	S	203	ENSP00000428524:P203S;ENSP00000427898:P203S;ENSP00000344844:P203S;ENSP00000403333:P203S;ENSP00000440258:P203S;ENSP00000428422:P203S	ENSP00000344844:P203S	P	-	1	0	HAVCR1	156412016	0.939000	0.31865	0.270000	0.24601	0.035000	0.12851	0.912000	0.28597	0.742000	0.32697	0.543000	0.68304	CCA		0.468	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			67	448	67	448	---	---	---	---
LCP2	3937	broad.mit.edu	37	5	169677742	169677742	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:169677742C>A	ENST00000046794.5	-	20	2086	c.1471G>T	c.(1471-1473)Ggg>Tgg	p.G491W	LCP2_ENST00000521416.1_Missense_Mutation_p.G286W|C5orf58_ENST00000517575.1_Intron	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	491	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		ACCTCTTTCCCTCGGAGTCCA	0.413																																						ENST00000046794.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1471-1473)Ggg>Tgg		lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)							127.0	120.0	122.0					5																	169677742		1896	4103	5999	SO:0001583	missense	3937				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	g.chr5:169677742C>A		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.1471G>T	5.37:g.169677742C>A	ENSP00000046794:p.Gly491Trp					C5orf58_ENST00000517575.1_Intron|LCP2_ENST00000521416.1_Missense_Mutation_p.G286W	p.G491W	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)	20	2086	-	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	491			SH2.		A8KA25|Q53XV4	Missense_Mutation	SNP	ENST00000046794.5	37	c.1471G>T	CCDS47339.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264236	0.80358	.	.	ENSG00000043462	ENST00000046794;ENST00000521416	D;D	0.89415	-2.51;-2.51	5.53	5.53	0.82687	SH2 motif (4);	0.198269	0.43416	D	0.000566	D	0.95529	0.8547	M	0.90650	3.135	0.58432	D	0.999999	D;D	0.69078	0.997;0.971	D;P	0.74348	0.983;0.886	D	0.96123	0.9086	10	0.87932	D	0	-17.1112	18.0335	0.89292	0.0:1.0:0.0:0.0	.	286;491	E7ESF6;Q13094	.;LCP2_HUMAN	W	491;286	ENSP00000046794:G491W;ENSP00000428871:G286W	ENSP00000046794:G491W	G	-	1	0	LCP2	169610320	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.301000	0.72782	2.611000	0.88343	0.462000	0.41574	GGG		0.413	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565		4	159	4	159	---	---	---	---
SH3PXD2B	285590	broad.mit.edu	37	5	171821588	171821588	+	Silent	SNP	T	T	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:171821588T>G	ENST00000311601.5	-	4	458	c.288A>C	c.(286-288)atA>atC	p.I96I	SH3PXD2B_ENST00000519643.1_Silent_p.I96I	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	96	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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)	p.I96I(1)		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)			CATCAATTGGTATCAGGCGTT	0.468																																						ENST00000311601.5																			1	Substitution - coding silent(1)	p.I96I(1)	prostate(1)	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						c.(286-288)atA>atC		SH3 and PX domains 2B							101.0	94.0	97.0					5																	171821588		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:171821588T>G	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.288A>C	5.37:g.171821588T>G						SH3PXD2B_ENST00000519643.1_Silent_p.I96I	p.I96I	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	458	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	96			PX.		B6F0V2|Q9P2Q1	Silent	SNP	ENST00000311601.5	37	c.288A>C	CCDS34291.1																																																																																				0.468	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		9	67	9	67	---	---	---	---
TRIM38	10475	broad.mit.edu	37	6	25983518	25983518	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr6:25983518C>A	ENST00000357085.3	+	8	1477	c.1001C>A	c.(1000-1002)cCc>cAc	p.P334H	TRIM38_ENST00000349458.3_Missense_Mutation_p.P334H|U91328.21_ENST00000608931.1_RNA	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	334	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						ACTGCCTTCCCCTGTGTCTTG	0.478																																						ENST00000357085.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						c.(1000-1002)cCc>cAc		tripartite motif containing 38							117.0	114.0	115.0					6																	25983518		2203	4300	6503	SO:0001583	missense	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25983518C>A	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.1001C>A	6.37:g.25983518C>A	ENSP00000349596:p.Pro334His					TRIM38_ENST00000349458.3_Missense_Mutation_p.P334H	p.P334H	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN			8	1477	+			334			B30.2/SPRY.		B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	c.1001C>A	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	c	9.877	1.200465	0.22121	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.14516	2.5;2.5;2.5	4.16	0.0789	0.14413	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.297602	0.24608	N	0.037067	T	0.05318	0.0141	M	0.75264	2.295	0.20638	N	0.99987	P;P	0.36768	0.569;0.569	B;B	0.30316	0.114;0.114	T	0.18493	-1.0335	10	0.87932	D	0	.	7.8805	0.29618	0.2956:0.269:0.4353:0.0	.	334;334	B2R862;O00635	.;TRI38_HUMAN	H	334	ENSP00000443976:P334H;ENSP00000230099:P334H;ENSP00000349596:P334H	ENSP00000230099:P334H	P	+	2	0	TRIM38	26091497	0.000000	0.05858	0.111000	0.21465	0.114000	0.19823	-0.160000	0.10041	-0.004000	0.14419	-0.282000	0.10007	CCC		0.478	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			6	200	6	200	---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30670419	30670419	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr6:30670419G>T	ENST00000376406.3	-	14	6660	c.6013C>A	c.(6013-6015)Cct>Act	p.P2005T	MDC1_ENST00000376405.2_Missense_Mutation_p.P1741T|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	2005	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Required for nuclear localization (NLS2).				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						TGGACTCCAGGGGTCACATAG	0.493								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(6013-6015)Cct>Act	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							134.0	129.0	131.0					6																	30670419		1510	2709	4219	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.chr6:30670419G>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.6013C>A	6.37:g.30670419G>T	ENSP00000365588:p.Pro2005Thr					MDC1_ENST00000376405.2_Missense_Mutation_p.P1741T	p.P2005T	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			14	6660	-			2005			BRCT 2.|Required for nuclear localization (NLS2).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.6013C>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892431	0.72524	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	D;D	0.89746	-2.56;-2.56	5.88	4.97	0.65823	BRCT (2);	0.000000	0.35555	N	0.003121	D	0.93314	0.7869	M	0.80183	2.485	0.39444	D	0.967295	D;D	0.89917	0.977;1.0	P;D	0.75020	0.848;0.985	D	0.93624	0.6950	10	0.72032	D	0.01	-13.8612	14.2819	0.66219	0.0:0.1498:0.8502:0.0	.	2005;982	Q14676;Q14676-4	MDC1_HUMAN;.	T	2005;1741;1718;1571	ENSP00000365588:P2005T;ENSP00000365587:P1741T	ENSP00000365587:P1741T	P	-	1	0	MDC1	30778398	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	3.035000	0.49759	2.800000	0.96347	0.650000	0.86243	CCT		0.493	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		6	276	6	276	---	---	---	---
MSH5	4439	broad.mit.edu	37	6	31727926	31727926	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr6:31727926G>T	ENST00000375755.3	+	19	2031	c.1745G>T	c.(1744-1746)gGg>gTg	p.G582V	MSH5_ENST00000395853.1_Missense_Mutation_p.G256V|MSH5_ENST00000431848.2_Missense_Mutation_p.G281V|MSH5_ENST00000534153.4_Missense_Mutation_p.G599V|SAPCD1_ENST00000425424.1_5'Flank|MSH5_ENST00000375703.3_Missense_Mutation_p.G582V|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.G599V|SAPCD1_ENST00000415669.2_5'Flank|MSH5_ENST00000375750.3_Missense_Mutation_p.G582V|MSH5_ENST00000375742.3_Missense_Mutation_p.G599V|MSH5_ENST00000375740.3_Missense_Mutation_p.G599V	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	582					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						GAATGTGGTGGGGACAAAGGG	0.567								Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000493662.2																			0											c.(1795-1797)gGg>gTg									105.0	103.0	104.0					6																	31727926		2203	4300	6503	SO:0001583	missense	100532732							g.chr6:31727926G>T	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1745G>T	6.37:g.31727926G>T	ENSP00000364908:p.Gly582Val					MSH5_ENST00000375750.3_Missense_Mutation_p.G582V|MSH5_ENST00000375742.3_Missense_Mutation_p.G599V|MSH5_ENST00000375740.3_Missense_Mutation_p.G599V|MSH5_ENST00000395853.1_Missense_Mutation_p.G256V|MSH5_ENST00000375703.3_Missense_Mutation_p.G582V|MSH5_ENST00000431848.2_Missense_Mutation_p.G281V|MSH5_ENST00000534153.4_Missense_Mutation_p.G599V|MSH5_ENST00000375755.3_Missense_Mutation_p.G582V	p.G599V							19	1852	+								B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	c.1796G>T	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301234	0.40694	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000383401;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000431848;ENST00000395853	D;D;D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	6.06	4.27	0.50696	DNA mismatch repair protein MutS, C-terminal (1);	0.266646	0.43110	D	0.000615	T	0.60196	0.2250	L	0.28458	0.855	0.33814	D	0.628257	B;B;B;B;B	0.30193	0.12;0.058;0.071;0.272;0.058	B;B;B;B;B	0.35182	0.053;0.031;0.078;0.197;0.109	T	0.56643	-0.7945	9	0.27082	T	0.32	-16.067	8.5761	0.33598	0.2353:0.0:0.7647:0.0	.	267;599;582;582;599	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	V	582;599;114;582;599;582;599;281;256	ENSP00000364908:G582V;ENSP00000364894:G599V;ENSP00000364903:G582V;ENSP00000431693:G599V;ENSP00000364855:G582V;ENSP00000364892:G599V;ENSP00000416784:G281V;ENSP00000379194:G256V	ENSP00000364855:G582V	G	+	2	0	MSH5	31835905	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	3.560000	0.53763	1.576000	0.49790	0.655000	0.94253	GGG		0.567	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			5	259	5	259	---	---	---	---
WDR46	9277	broad.mit.edu	37	6	33256001	33256001	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr6:33256001C>A	ENST00000374617.4	-	5	841	c.485G>T	c.(484-486)gGg>gTg	p.G162V	PFDN6_ENST00000374610.2_5'Flank|WDR46_ENST00000477718.1_5'UTR|PFDN6_ENST00000395131.1_5'Flank|PFDN6_ENST00000374607.1_5'Flank|PFDN6_ENST00000463584.1_5'Flank|PFDN6_ENST00000374606.5_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	162							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CCCATCCTCCCCTTCCAGAAA	0.488																																						ENST00000374617.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						c.(484-486)gGg>gTg		WD repeat domain 46							257.0	249.0	251.0					6																	33256001		2203	4300	6503	SO:0001583	missense	9277							g.chr6:33256001C>A	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.485G>T	6.37:g.33256001C>A	ENSP00000363746:p.Gly162Val					WDR46_ENST00000477718.1_5'UTR	p.G162V	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN			5	841	-			162					A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	ENST00000374617.4	37	c.485G>T	CCDS4772.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.632002	0.46944	.	.	ENSG00000227057	ENST00000374617;ENST00000444176	T;T	0.21932	2.13;1.98	4.0	4.0	0.46444	.	0.056069	0.64402	D	0.000001	T	0.18383	0.0441	L	0.28458	0.855	0.80722	D	1	D;D	0.63046	0.968;0.992	P;P	0.59487	0.581;0.858	T	0.01613	-1.1312	10	0.38643	T	0.18	-20.646	13.6674	0.62405	0.0:1.0:0.0:0.0	.	108;162	B4DP15;O15213	.;WDR46_HUMAN	V	162;97	ENSP00000363746:G162V;ENSP00000405568:G97V	ENSP00000363746:G162V	G	-	2	0	WDR46	33363979	0.985000	0.35326	0.984000	0.44739	0.862000	0.49288	2.642000	0.46596	2.076000	0.62316	0.448000	0.29417	GGG		0.488	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452		8	614	8	614	---	---	---	---
FNDC1	84624	broad.mit.edu	37	6	159635999	159635999	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr6:159635999C>A	ENST00000297267.9	+	5	683	c.483C>A	c.(481-483)ccC>ccA	p.P161P	FNDC1_ENST00000340366.6_Silent_p.P161P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	161	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCAACAAGCCCTTGCGTGTGC	0.537																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(481-483)ccC>ccA		fibronectin type III domain containing 1							52.0	54.0	53.0					6																	159635999		2047	4186	6233	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159635999C>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.483C>A	6.37:g.159635999C>A						FNDC1_ENST00000340366.6_Silent_p.P161P	p.P161P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	5	683	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	161			Fibronectin type-III 2.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.483C>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409508	0.25378	.	.	ENSG00000164694	ENST00000329629	.	.	.	6.17	3.02	0.34903	.	.	.	.	.	T	0.28499	0.0705	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23261	-1.0193	4	.	.	.	-36.9047	2.1847	0.03883	0.1964:0.2988:0.384:0.1209	.	.	.	.	I	120	.	.	L	+	1	0	FNDC1	159555987	0.459000	0.25768	0.998000	0.56505	0.999000	0.98932	0.008000	0.13197	0.900000	0.36469	0.655000	0.94253	CTT		0.537	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		4	63	4	63	---	---	---	---
SFT2D1	113402	broad.mit.edu	37	6	166733745	166733745	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr6:166733745C>A	ENST00000361731.3	-	8	550		c.e8-1		SFT2D1_ENST00000487841.1_Splice_Site	NM_145169.1	NP_660152.1			SFT2 domain containing 1											NS(1)|central_nervous_system(1)|large_intestine(3)|upper_aerodigestive_tract(1)	6		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)		OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05)		AACTGCATCCCTGGTGGAAAA	0.353																																						ENST00000361731.3																			0				NS(1)|central_nervous_system(1)|large_intestine(3)|upper_aerodigestive_tract(1)	6						c.e8-1		SFT2 domain containing 1							66.0	61.0	63.0					6																	166733745		2203	4300	6503	SO:0001630	splice_region_variant	113402				protein transport|vesicle-mediated transport	integral to membrane		g.chr6:166733745C>A	AF041429	CCDS5292.1	6q27	2008-02-05	2005-07-25	2005-07-25	ENSG00000198818	ENSG00000198818			21102	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 83"""	C6orf83			Standard	NM_145169		Approved	MGC19825, pRGR1	uc003qux.3	Q8WV19	OTTHUMG00000016001	ENST00000361731.3:c.441-1G>T	6.37:g.166733745C>A						SFT2D1_ENST00000487841.1_Splice_Site		NM_145169.1	NP_660152.1	Q8WV19	SFT2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05)	8	550	-		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)							Splice_Site	SNP	ENST00000361731.3	37		CCDS5292.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316419	0.40996	.	.	ENSG00000198818	ENST00000361731	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1772	0.65549	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SFT2D1	166653735	1.000000	0.71417	0.980000	0.43619	0.517000	0.34286	2.780000	0.47742	2.410000	0.81850	0.491000	0.48974	.		0.353	SFT2D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043061.2	NM_145169	Intron	4	109	4	109	---	---	---	---
CALCR	799	broad.mit.edu	37	7	93065363	93065363	+	Silent	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr7:93065363G>T	ENST00000394441.1	-	11	1365	c.1050C>A	c.(1048-1050)ccC>ccA	p.P350P	CALCR_ENST00000359558.2_Silent_p.P384P|CALCR_ENST00000360249.4_Silent_p.P366P|CALCR_ENST00000421592.1_Silent_p.P366P|CALCR_ENST00000426151.1_Silent_p.P350P	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	384					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TTCCCAGCAGGGGCACAAGGA	0.498																																						ENST00000359558.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(1150-1152)ccC>ccA		calcitonin receptor	Salmon Calcitonin(DB00017)						95.0	82.0	87.0					7																	93065363		2203	4300	6503	SO:0001819	synonymous_variant	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93065363G>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1050C>A	7.37:g.93065363G>T						CALCR_ENST00000360249.4_Silent_p.P366P|CALCR_ENST00000421592.1_Silent_p.P366P|CALCR_ENST00000426151.1_Silent_p.P350P|CALCR_ENST00000394441.1_Silent_p.P350P	p.P384P	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		14	1451	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		366					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP	ENST00000394441.1	37	c.1152C>A	CCDS5631.1																																																																																				0.498	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		4	103	4	103	---	---	---	---
MOSPD3	64598	broad.mit.edu	37	7	100210593	100210593	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr7:100210593C>A	ENST00000393950.2	+	1	461	c.179C>A	c.(178-180)cCc>cAc	p.P60H	MOSPD3_ENST00000223054.4_Missense_Mutation_p.P60H|MOSPD3_ENST00000424091.2_Missense_Mutation_p.P60H|MOSPD3_ENST00000379527.2_Missense_Mutation_p.P60H	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	60	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTCTATAACCCCACAGGAACT	0.647																																						ENST00000393950.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(178-180)cCc>cAc		motile sperm domain containing 3							57.0	65.0	62.0					7																	100210593		2202	4298	6500	SO:0001583	missense	64598					integral to membrane	structural molecule activity	g.chr7:100210593C>A	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.179C>A	7.37:g.100210593C>A	ENSP00000377522:p.Pro60His					MOSPD3_ENST00000424091.2_Missense_Mutation_p.P60H|MOSPD3_ENST00000223054.4_Missense_Mutation_p.P60H|MOSPD3_ENST00000379527.2_Missense_Mutation_p.P60H	p.P60H	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN			1	461	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		60			MSP.		A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Missense_Mutation	SNP	ENST00000393950.2	37	c.179C>A	CCDS5701.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251407	0.80135	.	.	ENSG00000106330	ENST00000223054;ENST00000493970;ENST00000379527;ENST00000393950;ENST00000424091;ENST00000393953	T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67	3.99	3.99	0.46301	PapD-like (2);	0.000000	0.56097	D	0.000030	T	0.81763	0.4891	M	0.68952	2.095	0.51767	D	0.999939	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83857	0.0266	10	0.87932	D	0	-16.8353	14.404	0.67068	0.0:1.0:0.0:0.0	.	60;60	C9JE89;O75425	.;MSPD3_HUMAN	H	60;60;60;60;60;46	ENSP00000223054:P60H;ENSP00000417276:P60H;ENSP00000368842:P60H;ENSP00000377522:P60H;ENSP00000404626:P60H	ENSP00000223054:P60H	P	+	2	0	MOSPD3	100048529	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.098000	0.57748	2.526000	0.85167	0.462000	0.41574	CCC		0.647	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		6	262	6	262	---	---	---	---
C7orf60	154743	broad.mit.edu	37	7	112555390	112555390	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr7:112555390C>A	ENST00000297145.4	-	2	438	c.273G>T	c.(271-273)gaG>gaT	p.E91D	C7orf60_ENST00000485446.1_5'UTR	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	91							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						GACCTTCGCCCTCACAAGTTT	0.348																																						ENST00000297145.4																			0				breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(271-273)gaG>gaT		chromosome 7 open reading frame 60							165.0	155.0	158.0					7																	112555390		1877	4117	5994	SO:0001583	missense	154743							g.chr7:112555390C>A		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.273G>T	7.37:g.112555390C>A	ENSP00000297145:p.Glu91Asp					C7orf60_ENST00000485446.1_5'UTR	p.E91D	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN			2	438	-			91					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.273G>T	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655546	0.47467	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.51	-0.359	0.12571	.	0.000000	0.85682	D	0.000000	T	0.63379	0.2506	L	0.50333	1.59	0.51767	D	0.999939	D;B	0.64830	0.994;0.158	D;B	0.70716	0.97;0.018	T	0.58691	-0.7592	9	0.38643	T	0.18	-13.0719	9.1409	0.36903	0.0:0.2674:0.0:0.7326	.	38;91	B4DST1;Q1RMZ1	.;CG060_HUMAN	D	91;73;38	.	ENSP00000297145:E91D	E	-	3	2	C7orf60	112342626	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	0.773000	0.26661	0.049000	0.15920	0.591000	0.81541	GAG		0.348	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		5	232	5	232	---	---	---	---
LRGUK	136332	broad.mit.edu	37	7	133859312	133859312	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr7:133859312C>T	ENST00000285928.2	+	8	1013	c.944C>T	c.(943-945)gCt>gTt	p.A315V		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	315						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.A315V(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GAACAGATTGCTGAGCTGAGA	0.313																																						ENST00000285928.2																			2	Substitution - Missense(2)	p.A315V(2)	prostate(2)	breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(943-945)gCt>gTt		leucine-rich repeats and guanylate kinase domain containing							53.0	63.0	60.0					7																	133859312		2202	4296	6498	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133859312C>T	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.944C>T	7.37:g.133859312C>T	ENSP00000285928:p.Ala315Val						p.A315V	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN			8	1013	+			315					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.944C>T	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714000	0.48622	.	.	ENSG00000155530	ENST00000285928	T	0.24538	1.85	5.61	3.72	0.42706	.	0.413089	0.24443	N	0.038491	T	0.24586	0.0596	L	0.55103	1.725	0.23346	N	0.997867	B	0.24533	0.105	B	0.24006	0.05	T	0.20174	-1.0283	10	0.62326	D	0.03	-3.1388	9.254	0.37573	0.3031:0.5588:0.1381:0.0	.	315	Q96M69	LRGUK_HUMAN	V	315	ENSP00000285928:A315V	ENSP00000285928:A315V	A	+	2	0	LRGUK	133509852	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	1.523000	0.35932	0.644000	0.30656	0.462000	0.41574	GCT		0.313	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		6	185	6	185	---	---	---	---
RCL1	10171	broad.mit.edu	37	9	4841318	4841318	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:4841318A>G	ENST00000381750.4	+	6	894	c.671A>G	c.(670-672)tAt>tGt	p.Y224C	RCL1_ENST00000381728.1_Missense_Mutation_p.Y38C|RCL1_ENST00000381730.1_Missense_Mutation_p.Y38C|RCL1_ENST00000448872.2_Missense_Mutation_p.Y38C	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	224					ribosome biogenesis (GO:0042254)|RNA processing (GO:0006396)	nucleolus (GO:0005730)	catalytic activity (GO:0003824)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		CCTGATATCTATATTTACACA	0.438																																						ENST00000381750.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(670-672)tAt>tGt		RNA terminal phosphate cyclase-like 1							129.0	117.0	121.0					9																	4841318		2203	4300	6503	SO:0001583	missense	10171				ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity	g.chr9:4841318A>G	AJ276894	CCDS6456.1, CCDS69565.1, CCDS75810.1	9p24.1-p23	2008-02-05			ENSG00000120158	ENSG00000120158			17687	protein-coding gene	gene with protein product		611405					Standard	NM_001286701		Approved	RPCL1, RNAC	uc003zis.2	Q9Y2P8	OTTHUMG00000019474	ENST00000381750.4:c.671A>G	9.37:g.4841318A>G	ENSP00000371169:p.Tyr224Cys					RCL1_ENST00000381730.1_Missense_Mutation_p.Y38C|RCL1_ENST00000381728.1_Missense_Mutation_p.Y38C|RCL1_ENST00000448872.2_Missense_Mutation_p.Y38C	p.Y224C	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN		GBM - Glioblastoma multiforme(50;0.0244)	6	894	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)	224					D3DRI2|Q5VYW9|Q5VZU1|Q9H9D0|Q9NY00|Q9P044	Missense_Mutation	SNP	ENST00000381750.4	37	c.671A>G	CCDS6456.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522155	0.85600	.	.	ENSG00000120158	ENST00000381750;ENST00000442869;ENST00000381730;ENST00000381728;ENST00000448872;ENST00000441844	.	.	.	5.74	5.74	0.90152	-terminal phosphate cyclase, insert domain (1);-terminal phosphate cyclase-like, eukaryotic (2);-terminal phosphate cyclase domain (2);RNA 3&apos (7);-terminal phosphate cyclase/enolpyruvate transferase, alpha/beta (1);-terminal phosphate cyclase (1);	0.111081	0.64402	D	0.000005	D	0.85831	0.5788	M	0.92268	3.29	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.981	D	0.88039	0.2780	9	0.48119	T	0.1	-20.675	16.3305	0.83010	1.0:0.0:0.0:0.0	.	38;224	Q5VZU1;Q9Y2P8	.;RCL1_HUMAN	C	224;66;38;38;38;38	.	ENSP00000371147:Y38C	Y	+	2	0	RCL1	4831318	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.310000	0.96267	2.317000	0.78254	0.459000	0.35465	TAT		0.438	RCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051587.1	NM_005772		4	287	4	287	---	---	---	---
KDM4C	23081	broad.mit.edu	37	9	7103863	7103863	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:7103863C>A	ENST00000381309.3	+	18	3168	c.2603C>A	c.(2602-2604)cCc>cAc	p.P868H	KDM4C_ENST00000442236.2_Missense_Mutation_p.P613H|KDM4C_ENST00000381306.3_Missense_Mutation_p.P868H|KDM4C_ENST00000428870.2_Missense_Mutation_p.P555H|KDM4C_ENST00000536108.1_3'UTR	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	868					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AAGGTCAACCCCAACGTGGTA	0.483																																						ENST00000381309.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2602-2604)cCc>cAc		lysine (K)-specific demethylase 4C							152.0	111.0	125.0					9																	7103863		2203	4300	6503	SO:0001583	missense	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:7103863C>A	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2603C>A	9.37:g.7103863C>A	ENSP00000370710:p.Pro868His					KDM4C_ENST00000536108.1_3'UTR|KDM4C_ENST00000428870.2_Missense_Mutation_p.P555H|KDM4C_ENST00000442236.2_Missense_Mutation_p.P613H|KDM4C_ENST00000381306.3_Missense_Mutation_p.P868H	p.P868H	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN			18	3168	+			868					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	c.2603C>A	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469177	0.43839	.	.	ENSG00000107077	ENST00000381309;ENST00000381306;ENST00000442236;ENST00000428870;ENST00000420847	T;T;T;T;T	0.15952	2.47;2.38;2.69;3.45;2.75	5.91	3.9	0.45041	.	0.560449	0.20119	N	0.098846	T	0.16685	0.0401	L	0.29908	0.895	0.27168	N	0.961	P;P;P	0.46395	0.877;0.694;0.875	B;B;P	0.45681	0.358;0.388;0.49	T	0.03945	-1.0990	10	0.54805	T	0.06	-14.79	12.2275	0.54468	0.5544:0.4456:0.0:0.0	.	613;868;868	E7EV17;Q9H3R0;Q9H3R0-2	.;KDM4C_HUMAN;.	H	868;868;613;555;212	ENSP00000370710:P868H;ENSP00000370707:P868H;ENSP00000409353:P613H;ENSP00000405739:P555H;ENSP00000400127:P212H	ENSP00000370707:P868H	P	+	2	0	KDM4C	7093863	0.974000	0.33945	0.905000	0.35620	0.388000	0.30384	3.314000	0.51943	1.468000	0.48064	0.655000	0.94253	CCC		0.483	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		4	121	4	121	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8460552	8460552	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:8460552G>T	ENST00000381196.4	-	30	4277	c.3734C>A	c.(3733-3735)cCt>cAt	p.P1245H	PTPRD_ENST00000360074.4_Missense_Mutation_p.P1232H|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1223H|PTPRD_ENST00000355233.5_Missense_Mutation_p.P834H|PTPRD_ENST00000486161.1_Missense_Mutation_p.P834H|PTPRD_ENST00000397617.3_Missense_Mutation_p.P824H|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1245H|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1245H|PTPRD_ENST00000397606.3_Missense_Mutation_p.P824H|PTPRD_ENST00000397611.3_Missense_Mutation_p.P831H|PTPRD_ENST00000537002.1_Missense_Mutation_p.P831H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1245					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)		GTCGGAGTAAGGGCTGGTTGC	0.433										TSP Lung(15;0.13)																												ENST00000381196.4																			0				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						c.(3733-3735)cCt>cAt		protein tyrosine phosphatase, receptor type, D							115.0	107.0	110.0					9																	8460552		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.chr9:8460552G>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.3734C>A	9.37:g.8460552G>T	ENSP00000370593:p.Pro1245His	TSP Lung(15;0.13)				PTPRD_ENST00000397606.3_Missense_Mutation_p.P824H|PTPRD_ENST00000537002.1_Missense_Mutation_p.P831H|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1245H|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1245H|PTPRD_ENST00000486161.1_Missense_Mutation_p.P834H|PTPRD_ENST00000397617.3_Missense_Mutation_p.P824H|PTPRD_ENST00000397611.3_Missense_Mutation_p.P831H|PTPRD_ENST00000355233.5_Missense_Mutation_p.P834H|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1223H|PTPRD_ENST00000360074.4_Missense_Mutation_p.P1232H	p.P1245H	NM_002839.3	NP_002830.1	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)	30	4277	-		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)	1245					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3734C>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838990	0.71373	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	5.89	4.98	0.66077	.	0.102964	0.64402	N	0.000002	T	0.76234	0.3959	M	0.87456	2.885	0.80722	D	1	D;B;B;B;D;B;P;D;D	0.89917	0.998;0.005;0.005;0.005;1.0;0.008;0.943;0.978;0.992	P;B;B;B;D;B;P;P;D	0.85130	0.879;0.005;0.004;0.004;0.997;0.008;0.731;0.826;0.933	T	0.80728	-0.1253	9	.	.	.	.	15.9743	0.80049	0.0:0.0:0.8641:0.1359	.	824;829;834;834;831;831;1232;1245;1245	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	1245;1245;1232;1223;834;824;831;831;716;1245;834;824	ENSP00000370593:P1245H;ENSP00000348812:P1245H;ENSP00000353187:P1232H;ENSP00000351293:P1223H;ENSP00000347373:P834H;ENSP00000380741:P824H;ENSP00000380735:P831H;ENSP00000440515:P831H;ENSP00000438164:P1245H;ENSP00000417093:P834H;ENSP00000380731:P824H	.	P	-	2	0	PTPRD	8450552	1.000000	0.71417	0.997000	0.53966	0.571000	0.35966	9.444000	0.97578	1.452000	0.47756	0.557000	0.71058	CCT		0.433	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			4	143	4	143	---	---	---	---
NDUFB6	4712	broad.mit.edu	37	9	32573053	32573053	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:32573053C>A	ENST00000379847.3	-	1	107	c.6G>T	c.(4-6)acG>acT	p.T2T	NDUFB6_ENST00000350021.2_Silent_p.T2T	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	2					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)		GAGTGTACCCCGTCATGTCGC	0.627											OREG0019131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000379847.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8						c.(4-6)acG>acT		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	NADH(DB00157)						31.0	27.0	28.0					9																	32573053		2197	4297	6494	SO:0001819	synonymous_variant	4712				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr9:32573053C>A	AF035840	CCDS6528.1, CCDS6529.1, CCDS75826.1	9p13.2	2011-07-04	2002-08-29		ENSG00000165264	ENSG00000165264		"""Mitochondrial respiratory chain complex / Complex I"""	7701	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase beta subunit, 6"", ""NADH-ubiquinone oxidoreductase B17 subunit"", ""complex I, mitochondrial respiratory chain, B17 subunit"""	603322	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6 (17kD, B17)"""			9763677, 9760212	Standard	NM_002493		Approved	B17, CI	uc003zre.2	O95139	OTTHUMG00000019741	ENST00000379847.3:c.6G>T	9.37:g.32573053C>A			OREG0019131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	833	NDUFB6_ENST00000350021.2_Silent_p.T2T	p.T2T	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)	1	107	-			2					A8K0Y7|Q5VYT2|Q6IB84	Silent	SNP	ENST00000379847.3	37	c.6G>T	CCDS6528.1																																																																																				0.627	NDUFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052001.1	NM_002493		3	40	3	40	---	---	---	---
GBA2	57704	broad.mit.edu	37	9	35748483	35748483	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:35748483C>A	ENST00000378103.3	-	1	742	c.219G>T	c.(217-219)gaG>gaT	p.E73D	GBA2_ENST00000545786.1_Missense_Mutation_p.E73D|GBA2_ENST00000378094.4_Missense_Mutation_p.E73D|RGP1_ENST00000378078.4_5'Flank|RGP1_ENST00000456972.2_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	73					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TAGCTTTACCCTCATAGGAAA	0.532																																						ENST00000378094.4																			0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(217-219)gaG>gaT		glucosidase, beta (bile acid) 2							112.0	113.0	113.0					9																	35748483		2203	4300	6503	SO:0001583	missense	57704				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35748483C>A	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.219G>T	9.37:g.35748483C>A	ENSP00000367343:p.Glu73Asp					GBA2_ENST00000378103.3_Missense_Mutation_p.E73D|GBA2_ENST00000545786.1_Missense_Mutation_p.E73D	p.E73D			Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		1	732	-	all_epithelial(49;0.167)		73					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.219G>T	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588937	0.86851	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	6.08	4.2	0.49525	.	0.132116	0.51477	D	0.000086	T	0.34919	0.0914	L	0.47716	1.5	0.28923	N	0.892029	P;P;P	0.42409	0.664;0.779;0.534	B;B;B	0.39258	0.295;0.295;0.154	T	0.30966	-0.9960	9	0.42905	T	0.14	-25.9633	10.7039	0.45944	0.0:0.8405:0.0:0.1595	.	73;73;73	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	D	73	.	ENSP00000367334:E73D	E	-	3	2	GBA2	35738483	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.736000	0.38187	1.520000	0.48965	0.591000	0.81541	GAG		0.532	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		6	385	6	385	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90501022	90501022	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:90501022C>A	ENST00000325643.5	+	4	1686	c.1620C>A	c.(1618-1620)ccC>ccA	p.P540P		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	540					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTCTCCACCCCAGATTAGGG	0.607																																						ENST00000325643.5																			0											c.(1618-1620)ccC>ccA		SPATA31 subfamily E, member 1							69.0	73.0	72.0					9																	90501022		2203	4300	6503	SO:0001819	synonymous_variant	286234							g.chr9:90501022C>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1620C>A	9.37:g.90501022C>A							p.P540P	NM_178828.4	NP_849150.3					4	1686	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.1620C>A	CCDS6676.1																																																																																				0.607	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		6	260	6	260	---	---	---	---
OR2K2	26248	broad.mit.edu	37	9	114089857	114089857	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:114089857G>T	ENST00000374428.1	-	1	943	c.944C>A	c.(943-945)cCc>cAc	p.P315H	OR2K2_ENST00000302681.1_Missense_Mutation_p.P286H			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GTAAATTATGGGGTTCAACAT	0.388																																						ENST00000374428.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						c.(943-945)cCc>cAc		olfactory receptor, family 2, subfamily K, member 2							120.0	111.0	114.0					9																	114089857		2203	4300	6503	SO:0001583	missense	26248				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:114089857G>T	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.944C>A	9.37:g.114089857G>T	ENSP00000363550:p.Pro315His					OR2K2_ENST00000302681.1_Missense_Mutation_p.P286H	p.P315H			Q8NGT1	OR2K2_HUMAN			1	943	-			315					Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37	c.944C>A		.	.	.	.	.	.	.	.	.	.	G	17.87	3.495285	0.64186	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.64260	-0.09;-0.09	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	U	0.001124	T	0.81465	0.4828	M	0.87971	2.92	0.45676	D	0.998591	D	0.89917	1.0	D	0.91635	0.999	D	0.84779	0.0772	10	0.87932	D	0	.	15.6607	0.77186	0.0:0.0:1.0:0.0	.	315	Q8NGT1	OR2K2_HUMAN	H	286;315	ENSP00000305055:P286H;ENSP00000363550:P315H	ENSP00000305055:P286H	P	-	2	0	OR2K2	113129678	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.207000	0.95064	2.636000	0.89361	0.591000	0.81541	CCC		0.388	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859		5	224	5	224	---	---	---	---
ADAMTS13	11093	broad.mit.edu	37	9	136313725	136313725	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:136313725A>C	ENST00000371929.3	+	22	3181	c.2737A>C	c.(2737-2739)Atg>Ctg	p.M913L	ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.M882L|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.M913L|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	913	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.M913L(2)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CGCAGGTCTGATGGAGCTGCG	0.632																																						ENST00000371929.3																			2	Substitution - Missense(2)	p.M913L(2)	prostate(2)	central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36						c.(2737-2739)Atg>Ctg		ADAM metallopeptidase with thrombospondin type 1 motif, 13							111.0	114.0	113.0					9																	136313725		2203	4300	6503	SO:0001583	missense	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136313725A>C	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.2737A>C	9.37:g.136313725A>C	ENSP00000360997:p.Met913Leu					ADAMTS13_ENST00000355699.2_Missense_Mutation_p.M913L|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.M882L|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR	p.M913L	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	22	3181	+			913			TSP type-1 5.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.2737A>C	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	A	4.487	0.090320	0.08632	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589	T;T;T	0.67171	-0.21;-0.25;-0.23	5.39	0.0901	0.14462	.	.	.	.	.	T	0.46054	0.1373	N	0.25647	0.755	0.09310	N	0.999998	B;B;B	0.11235	0.003;0.004;0.004	B;B;B	0.09377	0.002;0.004;0.004	T	0.22208	-1.0223	9	0.22109	T	0.4	.	4.6709	0.12689	0.5174:0.313:0.1696:0.0	.	913;882;913	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	L	913;913;882	ENSP00000360997:M913L;ENSP00000347927:M913L;ENSP00000348997:M882L	ENSP00000347927:M913L	M	+	1	0	ADAMTS13	135303546	0.252000	0.23972	0.000000	0.03702	0.380000	0.30137	0.506000	0.22658	-0.149000	0.11215	0.533000	0.62120	ATG		0.632	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		8	345	8	345	---	---	---	---
UAP1L1	91373	broad.mit.edu	37	9	139975242	139975242	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:139975242T>A	ENST00000409858.3	+	7	1312	c.1280T>A	c.(1279-1281)cTg>cAg	p.L427Q	UAP1L1_ENST00000360271.3_Missense_Mutation_p.L304Q	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	427							uridylyltransferase activity (GO:0070569)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CGCCAGGCCCTGCTCACCCAG	0.677																																						ENST00000409858.3																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1279-1281)cTg>cAg		UDP-N-acteylglucosamine pyrophosphorylase 1-like 1							39.0	42.0	41.0					9																	139975242		2202	4300	6502	SO:0001583	missense	91373						nucleotidyltransferase activity	g.chr9:139975242T>A	AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.1280T>A	9.37:g.139975242T>A	ENSP00000386935:p.Leu427Gln					UAP1L1_ENST00000360271.3_Missense_Mutation_p.L304Q	p.L427Q	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	7	1312	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	427					A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Missense_Mutation	SNP	ENST00000409858.3	37	c.1280T>A	CCDS7028.2	.	.	.	.	.	.	.	.	.	.	T	17.58	3.424149	0.62733	.	.	ENSG00000197355	ENST00000409858;ENST00000360271	T;T	0.21031	2.03;2.03	4.09	4.09	0.47781	.	0.077412	0.52532	D	0.000061	T	0.49966	0.1588	M	0.86343	2.81	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.58707	-0.7589	10	0.87932	D	0	.	12.2499	0.54591	0.0:0.0:0.0:1.0	.	427;304	Q3KQV9;Q3KQV9-2	UAP1L_HUMAN;.	Q	427;304	ENSP00000386935:L427Q;ENSP00000353409:L304Q	ENSP00000353409:L304Q	L	+	2	0	UAP1L1	139095063	1.000000	0.71417	0.802000	0.32245	0.385000	0.30292	6.088000	0.71371	1.495000	0.48549	0.383000	0.25322	CTG		0.677	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055216.2	XM_038063		4	92	4	92	---	---	---	---
FAM208B	54906	broad.mit.edu	37	10	5772512	5772512	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr10:5772512C>A	ENST00000328090.5	+	11	1175	c.550C>A	c.(550-552)Ctt>Att	p.L184I	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	184																	TTTATCTACCCTTAATTGTGC	0.353																																						ENST00000328090.5																			0											c.(550-552)Ctt>Att		family with sequence similarity 208, member B							98.0	90.0	93.0					10																	5772512		1830	4093	5923	SO:0001583	missense	54906							g.chr10:5772512C>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.550C>A	10.37:g.5772512C>A	ENSP00000328426:p.Leu184Ile					RP11-336A10.2_ENST00000411512.2_RNA	p.L184I	NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN			11	1175	+			184					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.550C>A	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818595	0.71028	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.16324	2.35	5.95	5.95	0.96441	.	0.000000	0.56097	D	0.000030	T	0.45236	0.1332	M	0.75264	2.295	0.36546	D	0.87155	D	0.89917	1.0	D	0.87578	0.998	T	0.50625	-0.8806	10	0.87932	D	0	.	18.1519	0.89677	0.0:1.0:0.0:0.0	.	184	Q5VWN6	F208B_HUMAN	I	184	ENSP00000328426:L184I	ENSP00000328426:L184I	L	+	1	0	C10orf18	5812518	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	2.231000	0.43009	2.826000	0.97356	0.563000	0.77884	CTT		0.353	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		6	204	6	204	---	---	---	---
FAM208B	54906	broad.mit.edu	37	10	5782210	5782210	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr10:5782210G>T	ENST00000328090.5	+	13	2702	c.2077G>T	c.(2077-2079)Ggg>Tgg	p.G693W	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	693																	AACCCCAGTGGGGAAAGTCAT	0.537																																						ENST00000328090.5																			0											c.(2077-2079)Ggg>Tgg		family with sequence similarity 208, member B							89.0	91.0	91.0					10																	5782210		1866	4099	5965	SO:0001583	missense	54906							g.chr10:5782210G>T	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2077G>T	10.37:g.5782210G>T	ENSP00000328426:p.Gly693Trp					RP11-336A10.2_ENST00000411512.2_RNA	p.G693W	NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN			13	2702	+			693					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.2077G>T	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582989	0.65992	.	.	ENSG00000108021	ENST00000328090	D	0.97976	-4.64	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000007	D	0.98598	0.9531	M	0.75447	2.3	0.44880	D	0.997894	D	0.89917	1.0	D	0.97110	1.0	D	0.99671	1.0996	10	0.87932	D	0	.	17.9025	0.88909	0.0:0.0:1.0:0.0	.	693	Q5VWN6	F208B_HUMAN	W	693	ENSP00000328426:G693W	ENSP00000328426:G693W	G	+	1	0	C10orf18	5822216	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	6.265000	0.72534	2.758000	0.94735	0.591000	0.81541	GGG		0.537	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		6	280	6	280	---	---	---	---
SGPL1	8879	broad.mit.edu	37	10	72629558	72629558	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr10:72629558C>A	ENST00000373202.3	+	9	914	c.714C>A	c.(712-714)ccC>ccA	p.P238P		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	238					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						GTGTGGCTCCCCAAAGTGCCC	0.448																																					Colon(151;1054 2458 6676 40971)	ENST00000373202.3																			0				large_intestine(4)	4						c.(712-714)ccC>ccA		sphingosine-1-phosphate lyase 1	Pyridoxal Phosphate(DB00114)						93.0	89.0	91.0					10																	72629558		2203	4300	6503	SO:0001819	synonymous_variant	8879				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity	g.chr10:72629558C>A	AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.714C>A	10.37:g.72629558C>A							p.P238P	NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN			9	914	+			238					B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Silent	SNP	ENST00000373202.3	37	c.714C>A	CCDS31216.1																																																																																				0.448	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901		4	132	4	132	---	---	---	---
FAM196A	642938	broad.mit.edu	37	10	128973760	128973760	+	Silent	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr10:128973760G>T	ENST00000522781.1	-	4	1455	c.900C>A	c.(898-900)ccC>ccA	p.P300P	FAM196A_ENST00000424811.2_Silent_p.P300P|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	300										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CAGTTTCCGAGGGCGCCTGGA	0.667																																						ENST00000522781.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(898-900)ccC>ccA		family with sequence similarity 196, member A							32.0	35.0	33.0					10																	128973760		2203	4299	6502	SO:0001819	synonymous_variant	642938							g.chr10:128973760G>T		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.900C>A	10.37:g.128973760G>T						DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.P300P	p.P300P	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN			4	1455	-			300					B2RNT4|B7ZME7	Silent	SNP	ENST00000522781.1	37	c.900C>A	CCDS31312.1																																																																																				0.667	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		4	135	4	135	---	---	---	---
RAG1	5896	broad.mit.edu	37	11	36596905	36596905	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr11:36596905C>A	ENST00000299440.5	+	2	2163	c.2051C>A	c.(2050-2052)gCc>gAc	p.A684D		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	684					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GAGAGGGAGGCCATGAAGAGC	0.512									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(2050-2052)gCc>gAc		recombination activating gene 1							56.0	52.0	53.0					11																	36596905		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36596905C>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2051C>A	11.37:g.36596905C>A	ENSP00000299440:p.Ala684Asp						p.A684D	NM_000448.2	NP_000439	P15918	RAG1_HUMAN			2	2163	+	all_lung(20;0.226)	all_hematologic(20;0.107)	684					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2051C>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433695	0.83776	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.87887	-2.31;-2.31	5.98	5.98	0.97165	.	0.054214	0.64402	D	0.000001	D	0.95351	0.8491	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95401	0.8490	10	0.87932	D	0	.	20.5176	0.99214	0.0:1.0:0.0:0.0	.	684	P15918	RAG1_HUMAN	D	684	ENSP00000434610:A684D;ENSP00000299440:A684D	ENSP00000299440:A684D	A	+	2	0	RAG1	36553481	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.648000	0.67930	2.852000	0.98041	0.644000	0.83932	GCC		0.512	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		4	85	4	85	---	---	---	---
MAP6	4135	broad.mit.edu	37	11	75298701	75298701	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr11:75298701C>A	ENST00000304771.3	-	4	2595	c.1845G>T	c.(1843-1845)aaG>aaT	p.K615N	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526689.1_5'Flank|MAP6_ENST00000526740.1_Missense_Mutation_p.K286N	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	615	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GACCTTCACCCTTGACAGGTG	0.542																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	ENST00000304771.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1843-1845)aaG>aaT		microtubule-associated protein 6							171.0	151.0	158.0					11																	75298701		2200	4293	6493	SO:0001583	missense	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75298701C>A	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1845G>T	11.37:g.75298701C>A	ENSP00000307093:p.Lys615Asn					MAP6_ENST00000526740.1_Missense_Mutation_p.K286N|CTD-2530H12.4_ENST00000527803.1_RNA	p.K615N	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN			4	2595	-	Ovarian(111;0.11)		615			Pro-rich.		A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	c.1845G>T	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448949	0.26074	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.47869	0.83	4.33	3.42	0.39159	.	.	.	.	.	T	0.54647	0.1871	L	0.58810	1.83	0.21473	N	0.999673	D	0.64830	0.994	P	0.53266	0.722	T	0.45659	-0.9246	9	0.62326	D	0.03	.	10.8148	0.46569	0.0:0.9024:0.0:0.0976	.	615	Q96JE9	MAP6_HUMAN	N	615;286;286	ENSP00000307093:K615N	ENSP00000307093:K615N	K	-	3	2	MAP6	74976349	0.000000	0.05858	0.010000	0.14722	0.062000	0.15995	-0.082000	0.11304	1.176000	0.42840	0.435000	0.28638	AAG		0.542	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		7	377	7	377	---	---	---	---
NPAT	4863	broad.mit.edu	37	11	108047756	108047756	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr11:108047756G>T	ENST00000278612.8	-	11	1073	c.968C>A	c.(967-969)cCa>cAa	p.P323Q	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	323	Mediates transcriptional activation.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		CTGAAATGCTGGGTCTGATTC	0.388																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(967-969)cCa>cAa		nuclear protein, ataxia-telangiectasia locus							121.0	117.0	118.0					11																	108047756		1894	4112	6006	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108047756G>T	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.968C>A	11.37:g.108047756G>T	ENSP00000278612:p.Pro323Gln					NPAT_ENST00000610253.1_5'UTR	p.P323Q	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	11	1073	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	323			Mediates transcriptional activation.		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.968C>A	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997760	0.93227	.	.	ENSG00000149308	ENST00000278612	T	0.37411	1.2	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62927	-0.6750	10	0.87932	D	0	-16.9688	19.8696	0.96845	0.0:0.0:1.0:0.0	.	323;323	B9EG70;Q14207	.;NPAT_HUMAN	Q	323	ENSP00000278612:P323Q	ENSP00000278612:P323Q	P	-	2	0	NPAT	107552966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.360000	0.97119	2.687000	0.91594	0.655000	0.94253	CCA		0.388	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		4	154	4	154	---	---	---	---
GRIK4	2900	broad.mit.edu	37	11	120833172	120833172	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr11:120833172G>A	ENST00000527524.2	+	18	2335	c.2048G>A	c.(2047-2049)cGc>cAc	p.R683H	GRIK4_ENST00000438375.2_Missense_Mutation_p.R683H	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	683					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.R683H(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CAGAATTCCCGCTACCAGACC	0.483																																						ENST00000527524.2																			2	Substitution - Missense(2)	p.R683H(2)	large_intestine(1)|prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(2047-2049)cGc>cAc		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						59.0	54.0	56.0					11																	120833172		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120833172G>A	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2048G>A	11.37:g.120833172G>A	ENSP00000435648:p.Arg683His					GRIK4_ENST00000438375.2_Missense_Mutation_p.R683H	p.R683H	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	18	2335	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	683					A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.2048G>A	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	G	35	5.421485	0.96111	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.11385	2.78;2.78	5.69	5.69	0.88448	Ionotropic glutamate receptor (2);	0.083443	0.85682	D	0.000000	T	0.32734	0.0839	L	0.60845	1.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00834	-1.1547	10	0.87932	D	0	.	19.3996	0.94623	0.0:0.0:1.0:0.0	.	683;683	A6H8K8;Q16099	.;GRIK4_HUMAN	H	683	ENSP00000435648:R683H;ENSP00000404063:R683H	ENSP00000404063:R683H	R	+	2	0	GRIK4	120338382	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.030000	0.88816	2.676000	0.91093	0.655000	0.94253	CGC		0.483	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		5	42	5	42	---	---	---	---
HSPA8	3312	broad.mit.edu	37	11	122929117	122929117	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr11:122929117C>A	ENST00000532636.1	-	8	1717	c.1598G>T	c.(1597-1599)aGg>aTg	p.R533M	HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000533540.1_Missense_Mutation_p.R387M|HSPA8_ENST00000526110.1_Missense_Mutation_p.R514M|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534319.1_Missense_Mutation_p.R297M|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.R533M|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.R533M			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	533					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CACCTTGTCCCTCTGCTTCTC	0.423																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(1597-1599)aGg>aTg		heat shock 70kDa protein 8							134.0	124.0	127.0					11																	122929117		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122929117C>A	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1598G>T	11.37:g.122929117C>A	ENSP00000437125:p.Arg533Met					HSPA8_ENST00000526110.1_Missense_Mutation_p.R514M|HSPA8_ENST00000532636.1_Missense_Mutation_p.R533M|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.R533M|HSPA8_ENST00000533540.1_Missense_Mutation_p.R387M|HSPA8_ENST00000534319.1_Missense_Mutation_p.R297M	p.R533M	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	8	1874	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	533					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1598G>T	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046796	0.55110	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552;ENST00000526686	T;T;T;T;T;T;T;T	0.01119	5.31;5.31;5.31;5.31;5.31;5.31;5.31;5.31	4.77	3.86	0.44501	.	0.059654	0.64402	D	0.000015	T	0.03827	0.0108	M	0.90595	3.13	0.58432	D	0.999999	P;P	0.52061	0.95;0.69	B;B	0.43783	0.431;0.431	T	0.29912	-0.9996	10	0.87932	D	0	-17.1658	13.2622	0.60111	0.0:0.922:0.0:0.0779	.	533;533	Q53GZ6;P11142	.;HSP7C_HUMAN	M	533;387;533;533;297;514;124;85	ENSP00000437125:R533M;ENSP00000437189:R387M;ENSP00000432083:R533M;ENSP00000227378:R533M;ENSP00000433316:R297M;ENSP00000433584:R514M;ENSP00000435908:R124M;ENSP00000435019:R85M	ENSP00000227378:R533M	R	-	2	0	HSPA8	122434327	1.000000	0.71417	0.999000	0.59377	0.723000	0.41478	6.038000	0.70964	1.124000	0.41980	-0.258000	0.10820	AGG		0.423	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			5	323	5	323	---	---	---	---
B3GAT1	27087	broad.mit.edu	37	11	134253748	134253748	+	Silent	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr11:134253748G>T	ENST00000524765.1	-	3	4991	c.447C>A	c.(445-447)ccC>ccA	p.P149P	B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000537389.1_Silent_p.P162P|B3GAT1_ENST00000392580.1_Silent_p.P149P|B3GAT1_ENST00000312527.4_Silent_p.P149P			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	149					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		TGTAGTTGCGGGGCGTCTCCA	0.731																																						ENST00000524765.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(445-447)ccC>ccA		beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)							30.0	28.0	29.0					11																	134253748		2177	4238	6415	SO:0001819	synonymous_variant	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134253748G>T	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.447C>A	11.37:g.134253748G>T						B3GAT1_ENST00000312527.4_Silent_p.P149P|B3GAT1_ENST00000392580.1_Silent_p.P149P|B3GAT1_ENST00000537389.1_Silent_p.P162P	p.P149P			Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	3	4991	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	149					Q96FS7	Silent	SNP	ENST00000524765.1	37	c.447C>A	CCDS8500.1																																																																																				0.731	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		3	16	3	16	---	---	---	---
MYL6	4637	broad.mit.edu	37	12	56554423	56554423	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:56554423T>A	ENST00000550697.1	+	6	682	c.441T>A	c.(439-441)caT>caA	p.H147Q	MYL6_ENST00000536128.1_3'UTR|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000348108.4_Missense_Mutation_p.H148Q|RP11-977G19.5_ENST00000553176.1_RNA|MYL6_ENST00000549566.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000548293.1_Missense_Mutation_p.H147Q|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000548400.1_Missense_Mutation_p.H111Q|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000293422.5_Intron	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	147	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)|vesicle (GO:0031982)	actin-dependent ATPase activity (GO:0030898)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.H147Q(1)		large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			TTGTGAGGCATATCCTGTCGG	0.547																																						ENST00000550697.1																			1	Substitution - Missense(1)	p.H147Q(1)	prostate(1)	large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7						c.(439-441)caT>caA		myosin, light chain 6, alkali, smooth muscle and non-muscle							206.0	187.0	193.0					12																	56554423		2203	4300	6503	SO:0001583	missense	4637				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle	g.chr12:56554423T>A	AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841		"""Myosins / Light chain"", ""EF-hand domain containing"""	7587	protein-coding gene	gene with protein product		609931	"""myosin, light polypeptide 6, alkali, smooth muscle and non-muscle"""			8188229, 2304459, 2722814	Standard	NM_021019		Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000550697.1:c.441T>A	12.37:g.56554423T>A	ENSP00000446955:p.His147Gln					MYL6_ENST00000548400.1_Missense_Mutation_p.H111Q|MYL6_ENST00000536128.1_3'UTR|MYL6_ENST00000348108.4_Missense_Mutation_p.H148Q|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000549566.1_Intron|MYL6_ENST00000548293.1_Missense_Mutation_p.H147Q	p.H147Q	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0979)		6	682	+			147			EF-hand 3.		P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	Missense_Mutation	SNP	ENST00000550697.1	37	c.441T>A	CCDS8906.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.178970	0.38511	.	.	ENSG00000092841	ENST00000550697;ENST00000348108;ENST00000548400;ENST00000548293	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	4.14	4.14	0.48551	EF-hand-like domain (1);	.	.	.	.	T	0.69124	0.3076	L	0.53780	1.695	0.42430	D	0.992675	B	0.02656	0.0	B	0.04013	0.001	T	0.67872	-0.5558	9	0.49607	T	0.09	.	5.3756	0.16164	0.0:0.201:0.0:0.799	.	147	P60660	MYL6_HUMAN	Q	147;148;111;147	ENSP00000446955:H147Q;ENSP00000301540:H148Q;ENSP00000448859:H111Q;ENSP00000448101:H147Q	ENSP00000301540:H148Q	H	+	3	2	MYL6	54840690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.982000	0.49337	1.895000	0.54865	0.459000	0.35465	CAT		0.547	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407928.3			14	351	14	351	---	---	---	---
MYL6	4637	broad.mit.edu	37	12	56554425	56554425	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:56554425T>G	ENST00000550697.1	+	6	684	c.443T>G	c.(442-444)aTc>aGc	p.I148S	MYL6_ENST00000536128.1_3'UTR|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000348108.4_Missense_Mutation_p.I149S|RP11-977G19.5_ENST00000553176.1_RNA|MYL6_ENST00000549566.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000548293.1_Missense_Mutation_p.I148S|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000548400.1_Missense_Mutation_p.I112S|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000293422.5_Intron	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	148	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)|vesicle (GO:0031982)	actin-dependent ATPase activity (GO:0030898)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.I148S(1)		large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GTGAGGCATATCCTGTCGGGG	0.547																																						ENST00000550697.1																			1	Substitution - Missense(1)	p.I148S(1)	prostate(1)	large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7						c.(442-444)aTc>aGc		myosin, light chain 6, alkali, smooth muscle and non-muscle							203.0	184.0	190.0					12																	56554425		2203	4300	6503	SO:0001583	missense	4637				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle	g.chr12:56554425T>G	AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841		"""Myosins / Light chain"", ""EF-hand domain containing"""	7587	protein-coding gene	gene with protein product		609931	"""myosin, light polypeptide 6, alkali, smooth muscle and non-muscle"""			8188229, 2304459, 2722814	Standard	NM_021019		Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000550697.1:c.443T>G	12.37:g.56554425T>G	ENSP00000446955:p.Ile148Ser					MYL6_ENST00000548400.1_Missense_Mutation_p.I112S|MYL6_ENST00000536128.1_3'UTR|MYL6_ENST00000348108.4_Missense_Mutation_p.I149S|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000549566.1_Intron|MYL6_ENST00000548293.1_Missense_Mutation_p.I148S	p.I148S	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0979)		6	684	+			148			EF-hand 3.		P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	Missense_Mutation	SNP	ENST00000550697.1	37	c.443T>G	CCDS8906.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705002	0.68615	.	.	ENSG00000092841	ENST00000550697;ENST00000348108;ENST00000548400;ENST00000548293	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	4.14	4.14	0.48551	EF-hand-like domain (1);	.	.	.	.	D	0.82655	0.5084	M	0.86097	2.795	0.53688	D	0.999977	B	0.24618	0.107	B	0.28991	0.097	D	0.83812	0.0242	9	0.87932	D	0	.	12.6043	0.56514	0.0:0.0:0.0:1.0	.	148	P60660	MYL6_HUMAN	S	148;149;112;148	ENSP00000446955:I148S;ENSP00000301540:I149S;ENSP00000448859:I112S;ENSP00000448101:I148S	ENSP00000301540:I149S	I	+	2	0	MYL6	54840692	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.669000	0.74462	1.895000	0.54865	0.459000	0.35465	ATC		0.547	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407928.3			14	342	14	342	---	---	---	---
DPY19L2	283417	broad.mit.edu	37	12	63976243	63976243	+	Silent	SNP	T	T	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:63976243T>C	ENST00000324472.4	-	18	1851	c.1668A>G	c.(1666-1668)ctA>ctG	p.L556L	DPY19L2_ENST00000413230.2_Silent_p.L3L	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	556					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)	p.L556L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAAACATCTTTAGCCTCATAA	0.343																																						ENST00000324472.4																			1	Substitution - coding silent(1)	p.L556L(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1666-1668)ctA>ctG		dpy-19-like 2 (C. elegans)							70.0	64.0	66.0					12																	63976243		2203	4300	6503	SO:0001819	synonymous_variant	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63976243T>C		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1668A>G	12.37:g.63976243T>C						DPY19L2_ENST00000413230.2_Silent_p.L3L	p.L556L	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	18	1851	-			556					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Silent	SNP	ENST00000324472.4	37	c.1668A>G	CCDS31851.1																																																																																				0.343	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		23	82	23	82	---	---	---	---
UBC	7316	broad.mit.edu	37	12	125397269	125397269	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:125397269G>A	ENST00000536769.1	-	1	2625	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	UBC_ENST00000546120.1_Missense_Mutation_p.A274V|UBC_ENST00000339647.5_Missense_Mutation_p.A350V|UBC_ENST00000538617.1_Intron|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	350	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTGTTTTCCGGCAAAGATCAA	0.522																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1048-1050)gCc>gTc		ubiquitin C							191.0	172.0	179.0					12																	125397269		2203	4300	6503	SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397269G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1049C>T	12.37:g.125397269G>A	ENSP00000441543:p.Ala350Val					UBC_ENST00000339647.5_Missense_Mutation_p.A350V|UBC_ENST00000546120.1_Missense_Mutation_p.A274V|UBC_ENST00000538617.1_Intron	p.A350V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2625	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		350			Ubiquitin-like 5.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	37	c.1049C>T	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416852	0.62511	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.74842	-0.88;-0.88;-0.88	3.17	3.17	0.36434	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.343088	0.19197	N	0.120281	T	0.82226	0.4991	M	0.74546	2.27	0.80722	D	1	P;P;P	0.46621	0.881;0.668;0.715	P;P;B	0.57244	0.816;0.63;0.365	D	0.84144	0.0419	10	0.72032	D	0.01	.	11.8774	0.52554	0.0:0.0:1.0:0.0	.	439;350;350	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	V	350;350;274;350;274	ENSP00000441543:A350V;ENSP00000344818:A350V;ENSP00000438394:A274V	ENSP00000344818:A350V	A	-	2	0	UBC	123963222	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.436000	0.80404	1.615000	0.50252	0.556000	0.70494	GCC		0.522	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		7	475	7	475	---	---	---	---
MIPEP	4285	broad.mit.edu	37	13	24455845	24455845	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr13:24455845C>A	ENST00000382172.3	-	3	543	c.445G>T	c.(445-447)Gta>Tta	p.V149L	MIPEP_ENST00000469167.1_5'UTR	NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	149					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.V149L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TACTTCTCTACCATGGTGCCA	0.502																																						ENST00000382172.3																			1	Substitution - Missense(1)	p.V149L(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27						c.(445-447)Gta>Tta		mitochondrial intermediate peptidase							100.0	69.0	79.0					13																	24455845		2203	4300	6503	SO:0001583	missense	4285				protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	g.chr13:24455845C>A		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.445G>T	13.37:g.24455845C>A	ENSP00000371607:p.Val149Leu					MIPEP_ENST00000469167.1_5'UTR	p.V149L	NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)	3	543	-		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)	149					Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP	ENST00000382172.3	37	c.445G>T	CCDS9303.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826066	0.71143	.	.	ENSG00000027001	ENST00000382172	T	0.53857	0.6	4.66	4.66	0.58398	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72463	0.3463	M	0.75085	2.285	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	T	0.75728	-0.3216	10	0.54805	T	0.06	.	17.9087	0.88927	0.0:1.0:0.0:0.0	.	149	Q99797	MIPEP_HUMAN	L	149	ENSP00000371607:V149L	ENSP00000371607:V149L	V	-	1	0	MIPEP	23353845	1.000000	0.71417	0.994000	0.49952	0.275000	0.26752	7.377000	0.79668	2.299000	0.77371	0.655000	0.94253	GTA		0.502	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1			11	115	11	115	---	---	---	---
SPG20	23111	broad.mit.edu	37	13	36886567	36886567	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr13:36886567G>A	ENST00000451493.1	-	7	1748	c.1531C>T	c.(1531-1533)Cca>Tca	p.P511S	SPG20_ENST00000355182.4_Missense_Mutation_p.P511S|SPG20_ENST00000438666.2_Missense_Mutation_p.P511S|SPG20_ENST00000494062.2_Missense_Mutation_p.P511S	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	511					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)	p.P511S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTGACATGTGGAGCTAGTTCT	0.368																																						ENST00000451493.1																			1	Substitution - Missense(1)	p.P511S(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1531-1533)Cca>Tca		spastic paraplegia 20 (Troyer syndrome)							139.0	136.0	137.0					13																	36886567		2203	4300	6503	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36886567G>A	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1531C>T	13.37:g.36886567G>A	ENSP00000414147:p.Pro511Ser					SPG20_ENST00000355182.4_Missense_Mutation_p.P511S|SPG20_ENST00000438666.2_Missense_Mutation_p.P511S|SPG20_ENST00000494062.2_Missense_Mutation_p.P511S	p.P511S	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	7	1748	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	511					O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.1531C>T	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	G	33	5.207575	0.95033	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.89681	-2.55;-2.55;-2.55	6.16	6.16	0.99307	Senescence/spartin-associated (1);	0.000000	0.85682	D	0.000000	D	0.95020	0.8388	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91908	0.5537	10	0.20046	T	0.44	-20.2932	20.8598	0.99761	0.0:0.0:1.0:0.0	.	511;511	A8K6Q9;Q8N0X7	.;SPG20_HUMAN	S	511	ENSP00000406061:P511S;ENSP00000347314:P511S;ENSP00000414147:P511S	ENSP00000347314:P511S	P	-	1	0	SPG20	35784567	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.987000	0.93497	2.937000	0.99478	0.650000	0.86243	CCA		0.368	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			42	283	42	283	---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	108518237	108518237	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr13:108518237C>A	ENST00000375915.2	-	1	846	c.708G>T	c.(706-708)tcG>tcT	p.S236S		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	236						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TGGACAACCCCGAGAACAACT	0.537																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(706-708)tcG>tcT		family with sequence similarity 155, member A							121.0	120.0	120.0					13																	108518237		2203	4300	6503	SO:0001819	synonymous_variant	728215					integral to membrane	binding	g.chr13:108518237C>A	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.708G>T	13.37:g.108518237C>A							p.S236S	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	846	-			236					B2RUV1|B7Z334	Silent	SNP	ENST00000375915.2	37	c.708G>T	CCDS32006.1																																																																																				0.537	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		5	240	5	240	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20846388	20846388	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr14:20846388C>A	ENST00000262715.5	-	39	5556	c.5516G>T	c.(5515-5517)gGg>gTg	p.G1839V	TEP1_ENST00000556935.1_Missense_Mutation_p.G1731V|TEP1_ENST00000545983.1_Missense_Mutation_p.G177V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1839					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCCGGGTGCCCCCAGGTCCTA	0.592																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(5515-5517)gGg>gTg		telomerase-associated protein 1							45.0	55.0	52.0					14																	20846388		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20846388C>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5516G>T	14.37:g.20846388C>A	ENSP00000262715:p.Gly1839Val					TEP1_ENST00000556935.1_Missense_Mutation_p.G1731V|TEP1_ENST00000545983.1_Missense_Mutation_p.G177V	p.G1839V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	39	5556	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1839					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.5516G>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592153	0.28357	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.50001	0.76;1.63;1.63	5.48	4.58	0.56647	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.172464	0.49305	D	0.000150	T	0.60958	0.2309	M	0.72118	2.19	0.45914	D	0.998754	P;D;D;D	0.89917	0.868;0.999;1.0;0.999	B;D;D;D	0.97110	0.383;0.972;1.0;0.938	T	0.56649	-0.7944	10	0.15066	T	0.55	-25.1231	9.0758	0.36519	0.0:0.8374:0.0:0.1626	.	177;1731;1182;1839	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	V	1839;1839;1731;177	ENSP00000262715:G1839V;ENSP00000452574:G1731V;ENSP00000438849:G177V	ENSP00000262715:G1839V	G	-	2	0	TEP1	19916228	0.005000	0.15991	0.997000	0.53966	0.036000	0.12997	0.699000	0.25586	2.580000	0.87095	0.557000	0.71058	GGG		0.592	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		5	95	5	95	---	---	---	---
L3HYPDH	112849	broad.mit.edu	37	14	59942588	59942588	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr14:59942588C>A	ENST00000247194.4	-	4	1051	c.938G>T	c.(937-939)aGg>aTg	p.R313M	L3HYPDH_ENST00000543619.1_5'Flank|L3HYPDH_ENST00000487285.1_Splice_Site_p.R142M	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	313					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	GCCACTTACCCTCACAGCTTT	0.453																																						ENST00000247194.4																			0											c.(937-939)aGg>aTg		L-3-hydroxyproline dehydratase (trans-)							83.0	82.0	82.0					14																	59942588		2203	4299	6502	SO:0001630	splice_region_variant	112849							g.chr14:59942588C>A	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"""trans-L-3-hydroxyproline dehydratase"""	614811	"""chromosome 14 open reading frame 149"""	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.939+1G>T	14.37:g.59942588C>A						L3HYPDH_ENST00000487285.1_Splice_Site_p.R142M	p.R313M	NM_144581.1	NP_653182.1					4	1051	-								Q96LJ5	Splice_Site	SNP	ENST00000247194.4	37	c.938G>T	CCDS9739.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525033	0.64747	.	.	ENSG00000126790	ENST00000247194;ENST00000487285;ENST00000481608	T;T	0.18016	2.24;2.24	5.34	2.0	0.26442	.	0.297314	0.41605	D	0.000854	T	0.30978	0.0782	M	0.78456	2.415	0.32612	N	0.524454	D	0.67145	0.996	P	0.62813	0.907	T	0.37244	-0.9714	10	0.49607	T	0.09	.	2.7194	0.05196	0.0:0.3324:0.249:0.4186	.	313	Q96EM0	PRCM_HUMAN	M	313;142;142	ENSP00000247194:R313M;ENSP00000431608:R142M	ENSP00000247194:R313M	R	-	2	0	C14orf149	59012341	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	1.917000	0.39996	0.590000	0.29694	0.460000	0.39030	AGG		0.453	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581	Missense_Mutation	5	274	5	274	---	---	---	---
FUT8	2530	broad.mit.edu	37	14	66208945	66208945	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr14:66208945C>A	ENST00000360689.5	+	11	3272	c.1545C>A	c.(1543-1545)ccC>ccA	p.P515P	FUT8_ENST00000557164.1_Silent_p.P352P|FUT8_ENST00000417683.1_Silent_p.P109P|FUT8_ENST00000358307.2_Silent_p.P386P|FUT8_ENST00000394585.1_Silent_p.P515P|FUT8_ENST00000394586.2_Silent_p.P515P	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	515	SH3.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CTCACCAACCCCGAACTGCAG	0.438																																						ENST00000360689.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(1543-1545)ccC>ccA		fucosyltransferase 8 (alpha (1,6) fucosyltransferase)							143.0	142.0	142.0					14																	66208945		2203	4300	6503	SO:0001819	synonymous_variant	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66208945C>A	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1545C>A	14.37:g.66208945C>A						FUT8_ENST00000394585.1_Silent_p.P515P|FUT8_ENST00000394586.2_Silent_p.P515P|FUT8_ENST00000358307.2_Silent_p.P386P|FUT8_ENST00000417683.1_Silent_p.P109P|FUT8_ENST00000557164.1_Silent_p.P352P	p.P515P	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	11	3272	+			515			SH3.		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Silent	SNP	ENST00000360689.5	37	c.1545C>A	CCDS9775.1																																																																																				0.438	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		6	271	6	271	---	---	---	---
CDC42BPB	9578	broad.mit.edu	37	14	103442220	103442220	+	Splice_Site	SNP	C	C	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr14:103442220C>G	ENST00000361246.2	-	10	1675	c.1387G>C	c.(1387-1389)Gag>Cag	p.E463Q		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.E463Q(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTGCCCTCACCTTGCAGCTTC	0.662																																						ENST00000361246.2																			2	Substitution - Missense(2)	p.E463Q(2)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(1387-1389)Gag>Cag		CDC42 binding protein kinase beta (DMPK-like)							75.0	79.0	77.0					14																	103442220		2203	4300	6503	SO:0001630	splice_region_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103442220C>G	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1387+1G>C	14.37:g.103442220C>G							p.E463Q	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	10	1675	-		Melanoma(154;0.155)	463						Splice_Site	SNP	ENST00000361246.2	37	c.1387G>C	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	36	5.706568	0.96821	.	.	ENSG00000198752	ENST00000361246	T	0.66815	-0.23	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.73682	0.3618	M	0.81497	2.545	0.80722	D	1	B	0.32425	0.371	B	0.37387	0.248	T	0.71388	-0.4608	9	.	.	.	.	20.0589	0.97667	0.0:1.0:0.0:0.0	.	463	Q9Y5S2	MRCKB_HUMAN	Q	463	ENSP00000355237:E463Q	.	E	-	1	0	CDC42BPB	102511973	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.064000	0.71169	2.732000	0.93576	0.650000	0.86243	GAG		0.662	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035	Missense_Mutation	13	154	13	154	---	---	---	---
SLC12A6	9990	broad.mit.edu	37	15	34531251	34531251	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr15:34531251C>A	ENST00000354181.3	-	20	3039	c.2547G>T	c.(2545-2547)ggG>ggT	p.G849G	SLC12A6_ENST00000558589.1_Silent_p.G840G|SLC12A6_ENST00000558667.1_Silent_p.G849G|SLC12A6_ENST00000560164.1_Silent_p.G661G|SLC12A6_ENST00000458406.2_Silent_p.G790G|SLC12A6_ENST00000397707.2_Silent_p.G834G|SLC12A6_ENST00000397702.2_Silent_p.G790G|SLC12A6_ENST00000560611.1_Silent_p.G849G|SLC12A6_ENST00000290209.5_Silent_p.G798G|SLC12A6_ENST00000451844.2_Silent_p.G661G			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	849					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCTTCATGCCCCCAAGGCCAC	0.542																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(2545-2547)ggG>ggT		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						204.0	195.0	198.0					15																	34531251		2201	4298	6499	SO:0001819	synonymous_variant	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34531251C>A	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2547G>T	15.37:g.34531251C>A						SLC12A6_ENST00000397702.2_Silent_p.G790G|SLC12A6_ENST00000397707.2_Silent_p.G834G|SLC12A6_ENST00000290209.5_Silent_p.G798G|SLC12A6_ENST00000558589.1_Silent_p.G840G|SLC12A6_ENST00000560164.1_Silent_p.G661G|SLC12A6_ENST00000458406.2_Silent_p.G790G|SLC12A6_ENST00000558667.1_Silent_p.G849G|SLC12A6_ENST00000560611.1_Silent_p.G849G|SLC12A6_ENST00000451844.2_Silent_p.G661G	p.G849G			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	20	3039	-		all_lung(180;2.78e-08)	849					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	ENST00000354181.3	37	c.2547G>T	CCDS58352.1																																																																																				0.542	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		9	465	9	465	---	---	---	---
CHP1	11261	broad.mit.edu	37	15	41523608	41523608	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr15:41523608C>T	ENST00000334660.5	+	1	268	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	EXD1_ENST00000559743.1_5'Flank|CHP1_ENST00000558351.1_Intron|EXD1_ENST00000458580.2_5'Flank|CHP1_ENST00000560397.1_Missense_Mutation_p.R10W|EXD1_ENST00000314992.5_5'Flank	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	10					calcium ion-dependent exocytosis (GO:0017156)|cellular response to acidic pH (GO:0071468)|cytoplasmic microtubule organization (GO:0031122)|membrane docking (GO:0022406)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|microtubule bundle formation (GO:0001578)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein glycosylation (GO:0060050)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of protein transport (GO:0051222)|positive regulation of sodium:proton antiporter activity (GO:0032417)|potassium ion transport (GO:0006813)|protein export from nucleus (GO:0006611)|protein oligomerization (GO:0051259)|protein stabilization (GO:0050821)|regulation of intracellular pH (GO:0051453)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|kinase binding (GO:0019900)|microtubule binding (GO:0008017)|potassium channel regulator activity (GO:0015459)|protein kinase inhibitor activity (GO:0004860)|transporter activity (GO:0005215)	p.R10W(1)									CACGTTACTGCGGGACGAAGA	0.677																																						ENST00000334660.5																			1	Substitution - Missense(1)	p.R10W(1)	prostate(1)								c.(28-30)Cgg>Tgg		calcineurin-like EF-hand protein 1							35.0	24.0	28.0					15																	41523608		2198	4300	6498	SO:0001583	missense	11261				potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity	g.chr15:41523608C>T		CCDS10073.1	15q13.3	2013-01-11	2013-01-11		ENSG00000187446	ENSG00000187446		"""EF-hand domain containing"""	17433	protein-coding gene	gene with protein product	"""calcineurin homologous protein"""	606988				15987692, 20720019	Standard	NM_007236		Approved	Sid470p, CHP, SLC9A1BP, p22, p24	uc001znl.3	Q99653	OTTHUMG00000130233	ENST00000334660.5:c.28C>T	15.37:g.41523608C>T	ENSP00000335632:p.Arg10Trp					CHP1_ENST00000560397.1_Missense_Mutation_p.R10W|CHP1_ENST00000558351.1_Intron	p.R10W	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN			1	268	+			10					B2R6H9|Q6FHZ9	Missense_Mutation	SNP	ENST00000334660.5	37	c.28C>T	CCDS10073.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745030	0.89663	.	.	ENSG00000187446	ENST00000334660;ENST00000392151	T;T	0.68479	-0.33;-0.33	5.79	1.52	0.23074	.	0.000000	0.85682	D	0.000000	T	0.76219	0.3957	M	0.87758	2.905	0.80722	D	1	D	0.56521	0.976	P	0.50659	0.647	T	0.81673	-0.0826	10	0.72032	D	0.01	-10.8135	14.3342	0.66578	0.6356:0.3644:0.0:0.0	.	10	Q99653	CHP1_HUMAN	W	10	ENSP00000335632:R10W;ENSP00000440490:R10W	ENSP00000335632:R10W	R	+	1	2	AC012652.1	39310900	0.990000	0.36364	1.000000	0.80357	0.993000	0.82548	0.024000	0.13555	0.334000	0.23590	-0.277000	0.10078	CGG		0.677	CHP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252554.2	NM_007236		3	7	3	7	---	---	---	---
CGNL1	84952	broad.mit.edu	37	15	57730877	57730877	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr15:57730877C>A	ENST00000281282.5	+	2	758	c.680C>A	c.(679-681)cCc>cAc	p.P227H		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	227	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ATAGAGGACCCCAAAAAGCAG	0.557																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(679-681)cCc>cAc		cingulin-like 1							105.0	106.0	106.0					15																	57730877		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57730877C>A	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.680C>A	15.37:g.57730877C>A	ENSP00000281282:p.Pro227His						p.P227H	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	758	+			227			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.680C>A	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293376	0.60086	.	.	ENSG00000128849	ENST00000281282	T	0.77750	-1.12	5.26	4.32	0.51571	.	0.000000	0.48286	D	0.000200	T	0.76499	0.3996	L	0.54323	1.7	0.35444	D	0.795143	D	0.56035	0.974	P	0.51355	0.667	T	0.81818	-0.0758	10	0.87932	D	0	-28.1342	5.4377	0.16490	0.2986:0.5595:0.0:0.1419	.	227	Q0VF96	CGNL1_HUMAN	H	227	ENSP00000281282:P227H	ENSP00000281282:P227H	P	+	2	0	CGNL1	55518169	0.981000	0.34729	0.983000	0.44433	0.910000	0.53928	1.601000	0.36773	1.379000	0.46325	0.650000	0.86243	CCC		0.557	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		5	297	5	297	---	---	---	---
TICRR	90381	broad.mit.edu	37	15	90129088	90129088	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr15:90129088C>A	ENST00000268138.7	+	4	1431	c.1326C>A	c.(1324-1326)ccC>ccA	p.P442P	TICRR_ENST00000560985.1_Silent_p.P441P|RP11-429B14.1_ENST00000559041.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	442					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										CTGACAGCCCCCGGGACACAG	0.493																																						ENST00000268138.7																			0											c.(1324-1326)ccC>ccA		TOPBP1-interacting checkpoint and replication regulator							96.0	95.0	95.0					15																	90129088		1923	4126	6049	SO:0001819	synonymous_variant	90381							g.chr15:90129088C>A	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.1326C>A	15.37:g.90129088C>A						TICRR_ENST00000560985.1_Silent_p.P441P|RP11-429B14.1_ENST00000559041.1_RNA	p.P442P							4	1431	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	ENST00000268138.7	37	c.1326C>A	CCDS10352.2																																																																																				0.493	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		6	232	6	232	---	---	---	---
ZNF778	197320	broad.mit.edu	37	16	89294346	89294346	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr16:89294346G>T	ENST00000433976.2	+	6	1898	c.1566G>T	c.(1564-1566)gaG>gaT	p.E522D	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.E480D	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	522					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E522D(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TACTGAATGAGCATGTGAAAA	0.458																																						ENST00000433976.2																			1	Substitution - Missense(1)	p.E522D(1)	prostate(1)	endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24						c.(1564-1566)gaG>gaT		zinc finger protein 778							73.0	81.0	78.0					16																	89294346		2184	4296	6480	SO:0001583	missense	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89294346G>T	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1566G>T	16.37:g.89294346G>T	ENSP00000405289:p.Glu522Asp					ZNF778_ENST00000306502.6_Missense_Mutation_p.E480D|RP11-46C24.6_ENST00000563182.1_RNA	p.E522D	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	6	1898	+			522					Q08AG0	Missense_Mutation	SNP	ENST00000433976.2	37	c.1566G>T	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	G	1.649	-0.514363	0.04200	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.03635	3.86;3.86	1.11	-0.133	0.13485	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01835	0.0058	N	0.16016	0.355	0.09310	N	0.999996	P;P	0.36330	0.492;0.548	B;B	0.35039	0.122;0.194	T	0.44772	-0.9306	9	0.13470	T	0.59	.	3.1069	0.06345	0.7146:0.0:0.2854:0.0	.	480;522	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	D	522;480	ENSP00000405289:E522D;ENSP00000305203:E480D	ENSP00000305203:E480D	E	+	3	2	ZNF778	87821847	0.000000	0.05858	0.025000	0.17156	0.232000	0.25224	-3.529000	0.00440	-0.049000	0.13379	-0.377000	0.06932	GAG		0.458	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		7	108	7	108	---	---	---	---
ZNF276	92822	broad.mit.edu	37	16	89789105	89789105	+	Silent	SNP	T	T	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr16:89789105T>A	ENST00000443381.2	+	2	469	c.372T>A	c.(370-372)gcT>gcA	p.A124A	ZNF276_ENST00000568064.1_Silent_p.A49A|VPS9D1_ENST00000389386.3_5'Flank|ZNF276_ENST00000446326.2_5'UTR|ZNF276_ENST00000289816.5_Silent_p.A49A	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	124	ZAD.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTGGTGTGGCTGTCCGCCAGG	0.637																																						ENST00000289816.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14						c.(145-147)gcT>gcA		zinc finger protein 276							69.0	66.0	67.0					16																	89789105		2198	4300	6498	SO:0001819	synonymous_variant	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89789105T>A	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.372T>A	16.37:g.89789105T>A						ZNF276_ENST00000568064.1_Silent_p.A49A|ZNF276_ENST00000443381.2_Silent_p.A124A|ZNF276_ENST00000446326.2_5'UTR	p.A49A	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	2	459	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	124					Q0VGA1|Q2TBE8|Q3B7H7	Silent	SNP	ENST00000443381.2	37	c.147T>A	CCDS45554.1																																																																																				0.637	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		4	106	4	106	---	---	---	---
KDM6B	23135	broad.mit.edu	37	17	7754485	7754485	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:7754485C>A	ENST00000448097.2	+	14	4151	c.3820C>A	c.(3820-3822)Cac>Aac	p.H1274N	KDM6B_ENST00000254846.5_Missense_Mutation_p.H1274N			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1274					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTCCCGTTCCCACACCACCAT	0.602																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(3820-3822)Cac>Aac		lysine (K)-specific demethylase 6B							124.0	102.0	110.0					17																	7754485		2203	4300	6503	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7754485C>A	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3820C>A	17.37:g.7754485C>A	ENSP00000412513:p.His1274Asn					KDM6B_ENST00000448097.2_Missense_Mutation_p.H1274N	p.H1274N	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			14	4209	+			1274					C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.3820C>A		.	.	.	.	.	.	.	.	.	.	C	15.38	2.816996	0.50633	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.79033	-1.23;-1.23	4.88	4.88	0.63580	.	0.051459	0.85682	D	0.000000	D	0.87124	0.6099	M	0.79123	2.44	0.58432	D	0.999994	P;D	0.67145	0.846;0.996	P;D	0.62955	0.573;0.909	D	0.88672	0.3196	10	0.87932	D	0	-13.6538	17.3331	0.87271	0.0:1.0:0.0:0.0	.	1274;1274	O15054;O15054-1	KDM6B_HUMAN;.	N	1274	ENSP00000254846:H1274N;ENSP00000412513:H1274N	ENSP00000254846:H1274N	H	+	1	0	KDM6B	7695210	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.346000	0.65992	2.718000	0.92993	0.650000	0.86243	CAC		0.602	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		4	112	4	112	---	---	---	---
COX10	1352	broad.mit.edu	37	17	14110351	14110351	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:14110351G>T	ENST00000261643.3	+	7	1230	c.1153G>T	c.(1153-1155)Gcc>Tcc	p.A385S	COX10_ENST00000537334.1_Missense_Mutation_p.A168S|COX10_ENST00000536205.1_Missense_Mutation_p.A193S	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	385					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CCCCATCATGGCCCTTCCCAT	0.647																																						ENST00000261643.3																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1153-1155)Gcc>Tcc		cytochrome c oxidase assembly homolog 10 (yeast)							142.0	115.0	124.0					17																	14110351		2203	4300	6503	SO:0001583	missense	1352				heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	g.chr17:14110351G>T	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.1153G>T	17.37:g.14110351G>T	ENSP00000261643:p.Ala385Ser					COX10_ENST00000537334.1_Missense_Mutation_p.A168S|COX10_ENST00000536205.1_Missense_Mutation_p.A193S	p.A385S	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	7	1230	+		all_lung(20;0.06)|Lung SC(565;0.168)	385					B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	37	c.1153G>T	CCDS11166.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.568720	0.00895	.	.	ENSG00000006695	ENST00000261643;ENST00000536205;ENST00000537334	D;D;D	0.93307	-3.2;-3.2;-3.2	4.79	-0.706	0.11249	.	0.312686	0.36134	N	0.002765	T	0.76983	0.4064	N	0.01576	-0.805	0.26777	N	0.969683	B;B	0.10296	0.003;0.001	B;B	0.11329	0.006;0.003	T	0.64732	-0.6338	10	0.02654	T	1	-5.6982	13.8541	0.63515	0.0:0.0:0.5386:0.4614	.	193;385	B4DJ50;Q12887	.;COX10_HUMAN	S	385;193;168	ENSP00000261643:A385S;ENSP00000439494:A193S;ENSP00000443354:A168S	ENSP00000261643:A385S	A	+	1	0	COX10	14051076	1.000000	0.71417	0.091000	0.20842	0.002000	0.02628	2.098000	0.41757	-0.024000	0.13941	-0.397000	0.06425	GCC		0.647	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		5	194	5	194	---	---	---	---
CPD	1362	broad.mit.edu	37	17	28770867	28770867	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:28770867G>T	ENST00000225719.4	+	11	2497	c.2421G>T	c.(2419-2421)agG>agT	p.R807S	CPD_ENST00000543464.2_Missense_Mutation_p.R560S	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	807	Carboxypeptidase-like 2.					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						CAGATGGCAGGGGTATATTAA	0.403																																						ENST00000225719.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						c.(2419-2421)agG>agT		carboxypeptidase D							167.0	164.0	165.0					17																	28770867		2203	4300	6503	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28770867G>T	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.2421G>T	17.37:g.28770867G>T	ENSP00000225719:p.Arg807Ser					CPD_ENST00000543464.2_Missense_Mutation_p.R560S	p.R807S	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN			11	2497	+			807			Carboxypeptidase-like 2.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.2421G>T	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.449368	0.26074	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.43688	0.94;0.94	5.92	-0.434	0.12283	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.349889	0.35555	N	0.003134	T	0.16981	0.0408	N	0.04746	-0.17	0.33588	D	0.600725	B;B	0.17268	0.003;0.021	B;B	0.18561	0.002;0.022	T	0.33548	-0.9864	10	0.08837	T	0.75	-15.7136	10.1832	0.42982	0.4269:0.0:0.5731:0.0	.	560;807	F5GZH6;O75976	.;CBPD_HUMAN	S	807;560	ENSP00000225719:R807S;ENSP00000444443:R560S	ENSP00000225719:R807S	R	+	3	2	CPD	25794993	0.941000	0.31946	0.998000	0.56505	0.987000	0.75469	0.037000	0.13840	0.065000	0.16485	0.585000	0.79938	AGG		0.403	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		7	460	7	460	---	---	---	---
TBC1D29	26083	broad.mit.edu	37	17	28886736	28886736	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:28886736G>T	ENST00000580161.1	+	2	2501	c.4G>T	c.(4-6)Ggg>Tgg	p.G2W	RP11-218M11.6_ENST00000582125.1_RNA|TBC1D29_ENST00000579181.1_Missense_Mutation_p.G2W|TBC1D29_ENST00000584297.1_Missense_Mutation_p.G2W			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	2	Rab-GAP TBC; truncated. {ECO:0000255|PROSITE-ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				CAAGACCATGGGGCATCTGGT	0.627																																						ENST00000580161.1																			0				breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(4-6)Ggg>Tgg		TBC1 domain family, member 29							138.0	134.0	136.0					17																	28886736		2203	4300	6503	SO:0001583	missense	26083					intracellular	Rab GTPase activator activity	g.chr17:28886736G>T	BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733			24509	protein-coding gene	gene with protein product						12618308	Standard	XM_006721805		Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000580161.1:c.4G>T	17.37:g.28886736G>T	ENSP00000462799:p.Gly2Trp					TBC1D29_ENST00000579181.1_Missense_Mutation_p.G2W|TBC1D29_ENST00000584297.1_Missense_Mutation_p.G2W	p.G2W			Q9UFV1	TBC29_HUMAN			2	2501	+		Myeloproliferative disorder(56;0.0255)	2			Rab-GAP TBC; truncated.			Missense_Mutation	SNP	ENST00000580161.1	37	c.4G>T	CCDS32606.1	.	.	.	.	.	.	.	.	.	.	.	0.575	-0.839369	0.02692	.	.	ENSG00000197689	ENST00000329040;ENST00000378698	.	.	.	.	.	.	Rab-GAP/TBC domain (1);	.	.	.	.	T	0.03783	0.0107	N	0.00289	-1.7	0.20196	N	0.99993	D	0.55605	0.972	B	0.43680	0.427	T	0.14531	-1.0469	6	0.25751	T	0.34	.	.	.	.	.	2	Q9UFV1	TBC29_HUMAN	W	2	.	ENSP00000330052:G2W	G	+	1	0	TBC1D29	25910862	0.604000	0.26932	0.010000	0.14722	0.010000	0.07245	0.121000	0.15667	-1.699000	0.01416	-1.727000	0.00703	GGG		0.627	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443632.1	NM_015594		5	258	5	258	---	---	---	---
KRT14	3861	broad.mit.edu	37	17	39741238	39741238	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:39741238G>C	ENST00000167586.6	-	2	683	c.597C>G	c.(595-597)gaC>gaG	p.D199E		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	199	Coil 1B.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)	p.D199E(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TGGTGCGGAAGTCATCCGCGG	0.502																																						ENST00000167586.6																			1	Substitution - Missense(1)	p.D199E(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(595-597)gaC>gaG		keratin 14							94.0	73.0	80.0					17																	39741238		2203	4300	6503	SO:0001583	missense	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39741238G>C	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.597C>G	17.37:g.39741238G>C	ENSP00000167586:p.Asp199Glu						p.D199E	NM_000526.4	NP_000517	P02533	K1C14_HUMAN			2	683	-		Breast(137;0.000307)	199			Coil 1B.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	c.597C>G	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369649	0.82573	.	.	ENSG00000186847	ENST00000167586	D	0.89123	-2.47	5.44	4.47	0.54385	Filament (1);	0.000000	0.51477	D	0.000098	D	0.94542	0.8242	M	0.87758	2.905	0.47123	D	0.999321	D	0.59357	0.985	D	0.67382	0.951	D	0.95322	0.8421	10	0.87932	D	0	.	14.2756	0.66177	0.0718:0.0:0.9282:0.0	.	199	P02533	K1C14_HUMAN	E	199	ENSP00000167586:D199E	ENSP00000167586:D199E	D	-	3	2	KRT14	36994764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.274000	0.51631	1.433000	0.47394	0.643000	0.83706	GAC		0.502	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		4	96	4	96	---	---	---	---
ROCK1	6093	broad.mit.edu	37	18	18586746	18586746	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr18:18586746T>A	ENST00000399799.2	-	15	2492	c.1552A>T	c.(1552-1554)Aca>Tca	p.T518S		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	518	Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T518S(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCCTTTAATGTAGAAACTAGA	0.308																																						ENST00000399799.2																			1	Substitution - Missense(1)	p.T518S(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(1552-1554)Aca>Tca		Rho-associated, coiled-coil containing protein kinase 1							57.0	61.0	60.0					18																	18586746		2201	4297	6498	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18586746T>A		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1552A>T	18.37:g.18586746T>A	ENSP00000382697:p.Thr518Ser						p.T518S	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			15	2492	-	Melanoma(1;0.165)					Interaction with FHOD1.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.1552A>T	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	9.907	1.208593	0.22205	.	.	ENSG00000067900	ENST00000399799	D	0.81996	-1.56	5.44	5.44	0.79542	.	0.049365	0.85682	D	0.000000	T	0.71634	0.3363	N	0.25144	0.715	0.54753	D	0.999988	B	0.10296	0.003	B	0.09377	0.004	T	0.66448	-0.5921	10	0.10377	T	0.69	.	15.6661	0.77230	0.0:0.0:0.0:1.0	.	518	Q13464	ROCK1_HUMAN	S	518	ENSP00000382697:T518S	ENSP00000382697:T518S	T	-	1	0	ROCK1	16840744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.391000	0.59652	2.285000	0.76669	0.533000	0.62120	ACA		0.308	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		6	280	6	280	---	---	---	---
ZNF516	9658	broad.mit.edu	37	18	74091047	74091047	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr18:74091047T>A	ENST00000443185.2	-	4	3340	c.3023A>T	c.(3022-3024)cAg>cTg	p.Q1008L	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1008					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q1008L(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCTCAGCTCCTGGGCTGCCTT	0.706																																						ENST00000443185.2																			1	Substitution - Missense(1)	p.Q1008L(1)	prostate(1)	central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(3022-3024)cAg>cTg		zinc finger protein 516							15.0	18.0	17.0					18																	74091047		1906	4065	5971	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091047T>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.3023A>T	18.37:g.74091047T>A	ENSP00000394757:p.Gln1008Leu					ZNF516_ENST00000524431.2_5'UTR	p.Q1008L	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	3340	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	1008						Missense_Mutation	SNP	ENST00000443185.2	37	c.3023A>T		.	.	.	.	.	.	.	.	.	.	t	12.54	1.968598	0.34754	.	.	ENSG00000101493	ENST00000443185	T	0.10099	2.91	3.28	0.737	0.18314	.	1.399420	0.04395	N	0.363196	T	0.09069	0.0224	.	.	.	0.09310	N	1	B	0.26318	0.146	B	0.24974	0.057	T	0.37776	-0.9691	9	0.72032	D	0.01	-12.8712	4.0051	0.09597	0.1816:0.1028:0.0:0.7156	.	1008	Q92618	ZN516_HUMAN	L	1008	ENSP00000394757:Q1008L	ENSP00000394757:Q1008L	Q	-	2	0	ZNF516	72220035	0.042000	0.20092	0.718000	0.30602	0.869000	0.49853	0.184000	0.16939	0.038000	0.15604	0.398000	0.26397	CAG		0.706	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		25	29	25	29	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10291243	10291243	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:10291243C>A	ENST00000340748.4	-	4	463	c.228G>T	c.(226-228)gaG>gaT	p.E76D	DNMT1_ENST00000540357.1_Missense_Mutation_p.E76D|DNMT1_ENST00000359526.4_Missense_Mutation_p.E76D			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	76	DMAP-interaction.|Interaction with DMAP1.|Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CCAGGTAGCCCTCCTACAGCA	0.408																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(226-228)gaG>gaT		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						81.0	84.0	83.0					19																	10291243		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10291243C>A	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.228G>T	19.37:g.10291243C>A	ENSP00000345739:p.Glu76Asp					DNMT1_ENST00000540357.1_Missense_Mutation_p.E76D|DNMT1_ENST00000359526.4_Missense_Mutation_p.E76D	p.E76D			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		4	463	-			76			Interaction with DMAP1.|Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.228G>T	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	c	18.17	3.564305	0.65651	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748	T;T;T	0.46063	0.88;0.88;0.88	5.65	4.62	0.57501	DMAP1-binding (1);	0.057975	0.64402	D	0.000003	T	0.48660	0.1512	L	0.34521	1.04	0.30396	N	0.78054	D;D;D	0.69078	0.996;0.996;0.997	D;D;D	0.79108	0.987;0.987;0.992	T	0.50792	-0.8786	10	0.59425	D	0.04	.	7.2941	0.26383	0.0:0.7401:0.0:0.2599	.	76;76;76	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	D	76	ENSP00000352516:E76D;ENSP00000440457:E76D;ENSP00000345739:E76D	ENSP00000345739:E76D	E	-	3	2	DNMT1	10152243	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	0.559000	0.23485	1.374000	0.46228	0.650000	0.86243	GAG		0.408	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		5	198	5	198	---	---	---	---
SIN3B	23309	broad.mit.edu	37	19	16952650	16952650	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:16952650C>A	ENST00000248054.5	+	4	474	c.453C>A	c.(451-453)ccC>ccA	p.P151P	CTD-2538G9.5_ENST00000600987.1_RNA|SIN3B_ENST00000379803.1_Silent_p.P151P|SIN3B_ENST00000596802.1_Silent_p.P151P					SIN3 transcription regulator family member B									p.P151P(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGGACAAACCCCAGGTGCCCC	0.517																																						ENST00000379803.1																			1	Substitution - coding silent(1)	p.P151P(1)	skin(1)	endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(451-453)ccC>ccA		SIN3 transcription regulator family member B							99.0	91.0	94.0					19																	16952650		2203	4300	6503	SO:0001819	synonymous_variant	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16952650C>A	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.453C>A	19.37:g.16952650C>A						SIN3B_ENST00000248054.5_Silent_p.P151P|SIN3B_ENST00000596802.1_Silent_p.P151P	p.P151P	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN			4	467	+			151						Silent	SNP	ENST00000248054.5	37	c.453C>A																																																																																					0.517	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		4	149	4	149	---	---	---	---
ZBTB32	27033	broad.mit.edu	37	19	36207474	36207474	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:36207474C>A	ENST00000392197.2	+	7	1602	c.1284C>A	c.(1282-1284)taC>taA	p.Y428*	ZBTB32_ENST00000262630.3_Nonsense_Mutation_p.Y428*|KMT2B_ENST00000222270.7_5'Flank|KMT2B_ENST00000341701.1_5'Flank|KMT2B_ENST00000420124.1_5'Flank|KMT2B_ENST00000607650.1_RNA			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	428					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGCTCCGTACCGCTGCTCCC	0.682											OREG0025433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000392197.2																			0				large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14						c.(1282-1284)taC>taA		zinc finger and BTB domain containing 32							50.0	51.0	51.0					19																	36207474		2203	4300	6503	SO:0001587	stop_gained	27033				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:36207474C>A	AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.1284C>A	19.37:g.36207474C>A	ENSP00000376035:p.Tyr428*		OREG0025433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	861	ZBTB32_ENST00000262630.3_Nonsense_Mutation_p.Y428*	p.Y428*			Q9Y2Y4	ZBT32_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	1602	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		428					Q8WVP2	Nonsense_Mutation	SNP	ENST00000392197.2	37	c.1284C>A	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755112	0.89843	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	.	.	.	4.75	0.296	0.15757	.	0.000000	0.42548	D	0.000684	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7044	7.2247	0.26007	0.0:0.5205:0.0:0.4795	.	.	.	.	X	428	.	ENSP00000262630:Y428X	Y	+	3	2	ZBTB32	40899314	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	2.045000	0.41250	-0.013000	0.14199	-0.379000	0.06801	TAC		0.682	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383		4	118	4	118	---	---	---	---
KIRREL2	84063	broad.mit.edu	37	19	36360602	36360602	+	IGR	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:36360602G>T	ENST00000360202.5	+	0	2942				APLP1_ENST00000586861.1_Missense_Mutation_p.G55W|APLP1_ENST00000221891.4_Missense_Mutation_p.G61W|NPHS1_ENST00000591817.1_5'Flank|APLP1_ENST00000537454.2_Missense_Mutation_p.G22W	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)						cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	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)			TGGACTATGCGGGCGCCTAAC	0.687																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(181-183)Ggg>Tgg		amyloid beta (A4) precursor-like protein 1							15.0	19.0	18.0					19																	36360602		2201	4297	6498	SO:0001628	intergenic_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.chr19:36360602G>T	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6			19.37:g.36360602G>T						APLP1_ENST00000537454.2_Missense_Mutation_p.G22W|APLP1_ENST00000586861.1_Missense_Mutation_p.G55W	p.G61W	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	373	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		61					C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.181G>T	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200055	0.79015	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.96265	-3.88;-3.96	4.99	3.94	0.45596	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, heparin-binding (3);	0.143817	0.32231	N	0.006381	D	0.97532	0.9192	M	0.73430	2.235	0.48762	D	0.999705	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.999;0.999	D	0.97620	1.0135	10	0.87932	D	0	-19.3685	11.4472	0.50131	0.0:0.1821:0.8179:0.0	.	55;22;61;61	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	W	22;61	ENSP00000441501:G22W;ENSP00000221891:G61W	ENSP00000221891:G61W	G	+	1	0	APLP1	41052442	1.000000	0.71417	0.976000	0.42696	0.942000	0.58702	4.607000	0.61133	1.076000	0.40961	0.561000	0.74099	GGG		0.687	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		3	34	3	34	---	---	---	---
LRFN3	79414	broad.mit.edu	37	19	36431059	36431059	+	Silent	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:36431059G>A	ENST00000588831.1	+	3	1786	c.732G>A	c.(730-732)ctG>ctA	p.L244L	LRFN3_ENST00000246529.3_Silent_p.L244L			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	244					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCTGGTGCTGGCCTTTGGCG	0.721																																						ENST00000588831.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(730-732)ctG>ctA		leucine rich repeat and fibronectin type III domain containing 3							26.0	32.0	30.0					19																	36431059		2114	4147	6261	SO:0001819	synonymous_variant	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36431059G>A	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.732G>A	19.37:g.36431059G>A						LRFN3_ENST00000246529.3_Silent_p.L244L	p.L244L			Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	1786	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		244					Q6UY10	Silent	SNP	ENST00000588831.1	37	c.732G>A	CCDS12483.1																																																																																				0.721	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		3	42	3	42	---	---	---	---
TMEM145	284339	broad.mit.edu	37	19	42819344	42819344	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:42819344C>A	ENST00000301204.3	+	7	551	c.510C>A	c.(508-510)atC>atA	p.I170I	TMEM145_ENST00000598766.1_Silent_p.I194I	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	170					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)		p.I170I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CGGCAGGGATCCTGGAGACAG	0.532																																						ENST00000598766.1																			1	Substitution - coding silent(1)	p.I170I(1)	prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.(580-582)atC>atA		transmembrane protein 145							173.0	145.0	154.0					19																	42819344		2203	4300	6503	SO:0001819	synonymous_variant	284339					integral to membrane		g.chr19:42819344C>A	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.510C>A	19.37:g.42819344C>A						TMEM145_ENST00000301204.3_Silent_p.I170I	p.I194I			Q8NBT3	TM145_HUMAN			7	582	+		Prostate(69;0.00682)	170						Silent	SNP	ENST00000301204.3	37	c.582C>A	CCDS12603.1																																																																																				0.532	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		5	129	5	129	---	---	---	---
PRKD2	25865	broad.mit.edu	37	19	47195016	47195016	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:47195016C>A	ENST00000291281.4	-	12	1903	c.1678G>T	c.(1678-1680)Ggg>Tgg	p.G560W	PRKD2_ENST00000595515.1_Missense_Mutation_p.G560W|PRKD2_ENST00000600194.1_Missense_Mutation_p.G403W|PRKD2_ENST00000601806.1_Missense_Mutation_p.G403W|RN7SL364P_ENST00000473668.2_RNA|PRKD2_ENST00000433867.1_Missense_Mutation_p.G560W			Q9BZL6	KPCD2_HUMAN	protein kinase D2	560	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CCAAACTGCCCTGAGCCCAGC	0.582																																						ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(1678-1680)Ggg>Tgg		protein kinase D2							91.0	88.0	89.0					19																	47195016		2203	4300	6503	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47195016C>A	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1678G>T	19.37:g.47195016C>A	ENSP00000291281:p.Gly560Trp					PRKD2_ENST00000595515.1_Missense_Mutation_p.G560W|PRKD2_ENST00000600194.1_Missense_Mutation_p.G403W|PRKD2_ENST00000601806.1_Missense_Mutation_p.G403W|PRKD2_ENST00000291281.4_Missense_Mutation_p.G560W	p.G560W	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	13	2155	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	560			Protein kinase.		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.1678G>T	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352967	0.82132	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	D;D	0.99136	-5.47;-5.47	4.5	4.5	0.54988	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.073958	0.52532	N	0.000069	D	0.99622	0.9862	H	0.99325	4.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97311	0.9937	10	0.87932	D	0	-25.5132	15.1112	0.72359	0.0:1.0:0.0:0.0	.	560;560	E7ER94;Q9BZL6	.;KPCD2_HUMAN	W	560	ENSP00000291281:G560W;ENSP00000393978:G560W	ENSP00000291281:G560W	G	-	1	0	PRKD2	51886856	1.000000	0.71417	0.981000	0.43875	0.991000	0.79684	7.688000	0.84153	2.240000	0.73641	0.555000	0.69702	GGG		0.582	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		4	133	4	133	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51191309	51191309	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:51191309C>A	ENST00000293441.1	-	17	2197	c.2179G>T	c.(2179-2181)Ggg>Tgg	p.G727W	SHANK1_ENST00000359082.3_Missense_Mutation_p.G718W|SHANK1_ENST00000391814.1_Missense_Mutation_p.G727W|SHANK1_ENST00000391813.1_Missense_Mutation_p.G114W	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	727	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACATTCTGCCCGTTCACCTGT	0.617																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(2179-2181)Ggg>Tgg		SH3 and multiple ankyrin repeat domains 1							151.0	109.0	123.0					19																	51191309		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51191309C>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2179G>T	19.37:g.51191309C>A	ENSP00000293441:p.Gly727Trp					SHANK1_ENST00000359082.3_Missense_Mutation_p.G718W|SHANK1_ENST00000391814.1_Missense_Mutation_p.G727W|SHANK1_ENST00000391813.1_Missense_Mutation_p.G114W	p.G727W	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	17	2197	-		all_neural(266;0.057)	727			PDZ.		A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.2179G>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969552	0.34754	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	3.33	3.33	0.38152	PDZ/DHR/GLGF (4);	0.000000	0.64402	U	0.000002	T	0.69646	0.3134	M	0.91090	3.175	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77879	-0.2423	10	0.59425	D	0.04	-7.7837	13.9587	0.64166	0.0:1.0:0.0:0.0	.	727;114	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	W	727;114;718;727	ENSP00000293441:G727W;ENSP00000375689:G114W;ENSP00000351984:G718W;ENSP00000375690:G727W	ENSP00000293441:G727W	G	-	1	0	SHANK1	55883121	0.804000	0.28969	1.000000	0.80357	0.377000	0.30045	2.790000	0.47821	1.896000	0.54893	0.289000	0.19496	GGG		0.617	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		4	157	4	157	---	---	---	---
ZFP28	140612	broad.mit.edu	37	19	57059269	57059269	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:57059269C>A	ENST00000301318.3	+	4	592	c.521C>A	c.(520-522)cCa>cAa	p.P174Q	ZFP28_ENST00000591844.1_Missense_Mutation_p.P174Q|AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	174	KRAB 1. {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(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GCCTGGTGCCCAGGTGAGTGT	0.512																																					Ovarian(124;554 1662 19430 21141 52494)	ENST00000301318.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(520-522)cCa>cAa		ZFP28 zinc finger protein							117.0	103.0	108.0					19																	57059269		2203	4300	6503	SO:0001583	missense	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57059269C>A		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.521C>A	19.37:g.57059269C>A	ENSP00000301318:p.Pro174Gln					ZFP28_ENST00000591844.1_Missense_Mutation_p.P174Q|AC007228.11_ENST00000596587.1_RNA	p.P174Q	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	4	592	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	174			KRAB 1.		A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	c.521C>A	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636352	0.47049	.	.	ENSG00000196867	ENST00000301318	T	0.08008	3.14	3.84	2.76	0.32466	Krueppel-associated box (1);	0.431022	0.17342	N	0.177701	T	0.23926	0.0579	M	0.74647	2.275	0.25114	N	0.990691	P;D	0.89917	0.868;1.0	B;D	0.78314	0.289;0.991	T	0.02150	-1.1205	10	0.49607	T	0.09	.	7.8689	0.29554	0.0:0.881:0.0:0.119	.	174;174	Q8NHY6;A8K0L8	ZFP28_HUMAN;.	Q	174	ENSP00000301318:P174Q	ENSP00000301318:P174Q	P	+	2	0	ZFP28	61751081	0.879000	0.30193	0.752000	0.31206	0.608000	0.37181	1.681000	0.37618	0.924000	0.37069	0.563000	0.77884	CCA		0.512	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		4	119	4	119	---	---	---	---
ZSCAN22	342945	broad.mit.edu	37	19	58850175	58850175	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:58850175G>T	ENST00000329665.4	+	3	1106	c.959G>T	c.(958-960)gGg>gTg	p.G320V		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	320					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)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GTCCACACAGGGGCGAAGCCC	0.567																																						ENST00000329665.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16						c.(958-960)gGg>gTg		zinc finger and SCAN domain containing 22							78.0	84.0	82.0					19																	58850175		2203	4300	6503	SO:0001583	missense	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58850175G>T	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.959G>T	19.37:g.58850175G>T	ENSP00000332433:p.Gly320Val						p.G320V	NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	3	1106	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	320					Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	c.959G>T	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278409	0.59758	.	.	ENSG00000182318	ENST00000329665	T	0.23552	1.9	3.8	3.8	0.43715	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45776	0.1359	L	0.59912	1.85	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.47787	-0.9090	9	0.87932	D	0	.	13.5491	0.61721	0.0:0.0:1.0:0.0	.	320	P10073	ZSC22_HUMAN	V	320	ENSP00000332433:G320V	ENSP00000332433:G320V	G	+	2	0	ZSCAN22	63541987	0.997000	0.39634	0.741000	0.31004	0.665000	0.39181	3.446000	0.52928	2.100000	0.63781	0.462000	0.41574	GGG		0.567	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		5	244	5	244	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40044151	40044151	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr20:40044151G>T	ENST00000373233.3	-	34	6791	c.6614C>A	c.(6613-6615)cCt>cAt	p.P2205H	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2205					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAGGATGATAGGGGTGTGCCC	0.597																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(6613-6615)cCt>cAt		chromodomain helicase DNA binding protein 6							30.0	30.0	30.0					20																	40044151		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40044151G>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6614C>A	20.37:g.40044151G>T	ENSP00000362330:p.Pro2205His						p.P2205H	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			34	6791	-		Myeloproliferative disorder(115;0.00425)	2205					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.6614C>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597809	0.66332	.	.	ENSG00000124177	ENST00000373233	D	0.85013	-1.93	5.94	5.94	0.96194	.	0.105905	0.42682	D	0.000679	D	0.85017	0.5601	L	0.54323	1.7	0.80722	D	1	P	0.49961	0.93	P	0.46975	0.533	D	0.84332	0.0522	10	0.40728	T	0.16	-7.1351	15.1177	0.72416	0.0:0.0:0.8585:0.1415	.	2205	Q8TD26	CHD6_HUMAN	H	2205	ENSP00000362330:P2205H	ENSP00000362330:P2205H	P	-	2	0	CHD6	39477565	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.273000	0.65564	2.822000	0.97130	0.557000	0.71058	CCT		0.597	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			4	68	4	68	---	---	---	---
IGLV2-23	28813	broad.mit.edu	37	22	23040734	23040734	+	RNA	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:23040734C>A	ENST00000390306.2	+	0	344				D86994.1_ENST00000385095.1_RNA					immunoglobulin lambda variable 2-23																		CAACAGCACCCAGGCAAAGCC	0.552																																						ENST00000390306.2																			0																				177.0	207.0	198.0					22																	23040734		1926	4150	6076			28813							g.chr22:23040734C>A	X14616		22q11.2	2012-02-08			ENSG00000211660	ENSG00000211660		"""Immunoglobulins / IGL locus"""	5890	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151234		22.37:g.23040734C>A														0	344	+									RNA	SNP	ENST00000390306.2	37																																																																																						0.552	IGLV2-23-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321839.2	NG_000002		8	444	8	444	---	---	---	---
DEPDC5	9681	broad.mit.edu	37	22	32229973	32229973	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:32229973G>A	ENST00000536766.1	+	22	2030	c.1859G>A	c.(1858-1860)aGg>aAg	p.R620K	DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000382111.2_Intron|DEPDC5_ENST00000266091.3_Intron|DEPDC5_ENST00000400249.2_Intron|DEPDC5_ENST00000382112.3_Intron|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000400246.1_Intron|DEPDC5_ENST00000400248.2_Intron			O75140	DEPD5_HUMAN	DEP domain containing 5	0					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.?(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCAAGTAAGAGGGGGCAGCTG	0.502																																						ENST00000536766.1																			1	Unknown(1)	p.?(1)	prostate(1)	breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1858-1860)aGg>aAg		DEP domain containing 5							160.0	154.0	156.0					22																	32229973		1903	4115	6018	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32229973G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000536766.1:c.1859G>A	22.37:g.32229973G>A	ENSP00000441358:p.Arg620Lys					DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000266091.3_Intron|DEPDC5_ENST00000400249.2_Intron|DEPDC5_ENST00000382111.2_Intron|DEPDC5_ENST00000382112.3_Intron|DEPDC5_ENST00000400246.1_Intron|DEPDC5_ENST00000400248.2_Intron	p.R620K			O75140	DEPD5_HUMAN			22	2030	+			0					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000536766.1	37	c.1859G>A		.	.	.	.	.	.	.	.	.	.	G	7.707	0.694361	0.15039	.	.	ENSG00000100150	ENST00000536766	T	0.31510	1.49	5.09	-0.468	0.12146	.	.	.	.	.	T	0.17577	0.0422	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12528	-1.0544	7	.	.	.	.	8.786	0.34821	0.5031:0.0:0.4969:0.0	.	620	F5GYZ8	.	K	620	ENSP00000441358:R620K	.	R	+	2	0	DEPDC5	30559973	.	.	0.939000	0.37840	0.884000	0.51177	.	.	-0.273000	0.09246	-0.269000	0.10298	AGG		0.502	DEPDC5-206	KNOWN	basic	protein_coding	protein_coding		NM_014662		23	452	23	452	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36701115	36701115	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:36701115C>A	ENST00000216181.5	-	18	2423	c.2193G>T	c.(2191-2193)aaG>aaT	p.K731N		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	731	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCATGAAACCCTTGGGAATGG	0.547			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2191-2193)aaG>aaT		myosin, heavy chain 9, non-muscle							134.0	124.0	128.0					22																	36701115		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36701115C>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2193G>T	22.37:g.36701115C>A	ENSP00000216181:p.Lys731Asn						p.K731N	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			18	2423	-			731			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.2193G>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923706	0.73213	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.87729	-2.29	4.66	2.1	0.27182	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.81664	0.4870	L	0.53561	1.675	0.80722	D	1	P	0.37038	0.579	B	0.40677	0.337	T	0.78773	-0.2073	10	0.87932	D	0	.	1.6993	0.02869	0.303:0.3953:0.0:0.3017	.	731	P35579	MYH9_HUMAN	N	595;731	ENSP00000216181:K731N	ENSP00000216181:K731N	K	-	3	2	MYH9	35031061	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.617000	0.36943	1.083000	0.41159	0.655000	0.94253	AAG		0.547	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		4	146	4	146	---	---	---	---
MFNG	4242	broad.mit.edu	37	22	37875495	37875495	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:37875495C>A	ENST00000356998.3	-	4	672	c.449G>T	c.(448-450)aGg>aTg	p.R150M	MFNG_ENST00000416983.3_Missense_Mutation_p.R136M	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	150					pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular space (GO:0005615)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					CAGCAGCGCCCTTGGGTTCAC	0.617																																						ENST00000356998.3																			0				large_intestine(2)|lung(2)|skin(1)	5						c.(448-450)aGg>aTg		MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							87.0	75.0	79.0					22																	37875495		2203	4300	6503	SO:0001583	missense	4242				pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr22:37875495C>A	BC094814	CCDS13947.1, CCDS54525.1	22q13.1	2013-02-19	2006-11-13		ENSG00000100060	ENSG00000100060	2.4.1.222	"""Beta 3-glycosyltransferases"""	7038	protein-coding gene	gene with protein product		602577	"""manic fringe (Drosophila) homolog"", ""manic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_002405		Approved		uc003ass.2	O00587	OTTHUMG00000150560	ENST00000356998.3:c.449G>T	22.37:g.37875495C>A	ENSP00000349490:p.Arg150Met					MFNG_ENST00000416983.3_Missense_Mutation_p.R136M	p.R150M	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN			4	672	-	Melanoma(58;0.0574)		150					B4DLT6|O43730|Q504S9	Missense_Mutation	SNP	ENST00000356998.3	37	c.449G>T	CCDS13947.1	.	.	.	.	.	.	.	.	.	.	c	12.03	1.814329	0.32053	.	.	ENSG00000100060	ENST00000416983;ENST00000356998;ENST00000436341;ENST00000442496	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-0.11	5.18	1.32	0.21799	.	0.902730	0.09639	N	0.775216	T	0.72867	0.3514	L	0.49778	1.585	0.09310	N	1	P;P	0.47034	0.889;0.889	P;P	0.48524	0.58;0.58	T	0.61983	-0.6950	10	0.49607	T	0.09	-2.2344	1.4582	0.02390	0.156:0.4227:0.1534:0.2679	.	136;150	B4DLT6;O00587	.;MFNG_HUMAN	M	136;150;28;28	ENSP00000413855:R136M;ENSP00000349490:R150M;ENSP00000394081:R28M;ENSP00000389274:R28M	ENSP00000349490:R150M	R	-	2	0	MFNG	36205441	0.000000	0.05858	0.001000	0.08648	0.303000	0.27691	-0.372000	0.07504	0.518000	0.28383	0.486000	0.48141	AGG		0.617	MFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318902.1	NM_002405		4	80	4	80	---	---	---	---
XRCC6	2547	broad.mit.edu	37	22	42052956	42052956	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:42052956C>A	ENST00000359308.4	+	9	1996	c.1341C>A	c.(1339-1341)ccC>ccA	p.P447P	XRCC6_ENST00000360079.3_Silent_p.P447P|XRCC6_ENST00000428575.2_Silent_p.P314P|XRCC6_ENST00000402580.3_Silent_p.P406P|XRCC6_ENST00000405506.1_Silent_p.P397P|XRCC6_ENST00000405878.1_Silent_p.P447P			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	447	Ku.				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GGAAGATGCCCTTTACTGAAA	0.423								Non-homologous end-joining																														ENST00000359308.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1339-1341)ccC>ccA	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 6							82.0	79.0	80.0					22																	42052956		2203	4300	6503	SO:0001819	synonymous_variant	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42052956C>A	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.1341C>A	22.37:g.42052956C>A						XRCC6_ENST00000402580.3_Silent_p.P406P|XRCC6_ENST00000405506.1_Silent_p.P397P|XRCC6_ENST00000405878.1_Silent_p.P447P|XRCC6_ENST00000360079.3_Silent_p.P447P|XRCC6_ENST00000428575.2_Silent_p.P314P	p.P447P			P12956	XRCC6_HUMAN			9	1996	+			447			Ku.		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Silent	SNP	ENST00000359308.4	37	c.1341C>A	CCDS14021.1																																																																																				0.423	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		4	148	4	148	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610895	42610895	+	Silent	SNP	A	A	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:42610895A>G	ENST00000359486.3	-	1	553	c.417T>C	c.(415-417)ttT>ttC	p.F139F	TCF20_ENST00000335626.4_Silent_p.F139F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.F139F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGTGCTTGAAACTGGCCCA	0.577																																						ENST00000359486.3																			1	Substitution - coding silent(1)	p.F139F(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(415-417)ttT>ttC		transcription factor 20 (AR1)							104.0	94.0	97.0					22																	42610895		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610895A>G	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.417T>C	22.37:g.42610895A>G						TCF20_ENST00000335626.4_Silent_p.F139F	p.F139F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	553	-			139					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.417T>C	CCDS14033.1																																																																																				0.577	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		56	162	56	162	---	---	---	---
BCOR	54880	broad.mit.edu	37	X	39914706	39914706	+	Silent	SNP	A	A	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrX:39914706A>G	ENST00000378444.4	-	12	4884	c.4656T>C	c.(4654-4656)taT>taC	p.Y1552Y	BCOR_ENST00000378463.1_Silent_p.Y395Y|BCOR_ENST00000342274.4_Silent_p.Y1518Y|BCOR_ENST00000397354.3_Silent_p.Y1518Y|BCOR_ENST00000378455.4_Silent_p.Y1500Y	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1552					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Y1518Y(2)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGTCAGCACCATAAGAGAGAA	0.453			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		2	Substitution - coding silent(2)	p.Y1518Y(2)	prostate(2)	breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(4552-4554)taT>taC		BCL6 corepressor							137.0	113.0	121.0					X																	39914706		2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39914706A>G	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4656T>C	X.37:g.39914706A>G						BCOR_ENST00000378444.4_Silent_p.Y1552Y|BCOR_ENST00000378463.1_Silent_p.Y395Y|BCOR_ENST00000397354.3_Silent_p.Y1518Y|BCOR_ENST00000378455.4_Silent_p.Y1500Y	p.Y1518Y	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			12	4916	-			1552					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.4554T>C	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	A	4.786	0.146077	0.09134	.	.	ENSG00000183337	ENST00000427012	.	.	.	5.53	-0.201	0.13212	.	.	.	.	.	T	0.59824	0.2222	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56318	-0.7999	4	.	.	.	-11.723	12.5498	0.56220	0.7248:0.0:0.2752:0.0	.	.	.	.	T	247	.	.	M	-	2	0	BCOR	39799650	1.000000	0.71417	0.995000	0.50966	0.430000	0.31655	1.113000	0.31184	-0.050000	0.13356	-1.351000	0.01236	ATG		0.453	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		8	83	8	83	---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99662671	99662671	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrX:99662671C>A	ENST00000373034.4	-	1	2600	c.925G>T	c.(925-927)Ggg>Tgg	p.G309W	PCDH19_ENST00000420881.2_Missense_Mutation_p.G309W|PCDH19_ENST00000255531.7_Missense_Mutation_p.G309W	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	309	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TACACGTGCCCCTCTTCGTAG	0.587																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(925-927)Ggg>Tgg		protocadherin 19							63.0	68.0	66.0					X																	99662671		2145	4246	6391	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662671C>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.925G>T	X.37:g.99662671C>A	ENSP00000362125:p.Gly309Trp					PCDH19_ENST00000255531.7_Missense_Mutation_p.G309W|PCDH19_ENST00000420881.2_Missense_Mutation_p.G309W	p.G309W	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2600	-			309			Cadherin 3.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.925G>T	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.325993	0.41197	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.52295	0.67;0.67;0.67	5.95	5.95	0.96441	Cadherin (4);Cadherin-like (1);	0.340109	0.35495	N	0.003175	T	0.59742	0.2216	L	0.33339	1.005	0.48696	D	0.999692	D;D;D	0.76494	0.999;0.995;0.996	D;P;D	0.65443	0.935;0.879;0.926	T	0.60969	-0.7157	10	0.62326	D	0.03	.	19.254	0.93938	0.0:1.0:0.0:0.0	.	309;309;309	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	W	309	ENSP00000400327:G309W;ENSP00000362125:G309W;ENSP00000255531:G309W	ENSP00000255531:G309W	G	-	1	0	PCDH19	99549327	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	1.181000	0.32017	2.498000	0.84270	0.513000	0.50165	GGG		0.587	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		4	62	4	62	---	---	---	---
IGSF1	3547	broad.mit.edu	37	X	130407832	130407832	+	Missense_Mutation	SNP	G	G	T	rs373560620		TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrX:130407832G>T	ENST00000361420.3	-	20	4028	c.3949C>A	c.(3949-3951)Cct>Act	p.P1317T	IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370904.1_Missense_Mutation_p.P1308T|IGSF1_ENST00000370910.1_Missense_Mutation_p.P1308T|IGSF1_ENST00000370903.3_Missense_Mutation_p.P1322T			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1317					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GAATTGGCAGGGGTGCCTGGT	0.463																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(3922-3924)Cct>Act		immunoglobulin superfamily, member 1							183.0	173.0	177.0					X																	130407832		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130407832G>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3949C>A	X.37:g.130407832G>T	ENSP00000355010:p.Pro1317Thr					IGSF1_ENST00000370903.3_Missense_Mutation_p.P1322T|IGSF1_ENST00000361420.3_Missense_Mutation_p.P1317T|IGSF1_ENST00000370910.1_Missense_Mutation_p.P1308T	p.P1308T			Q8N6C5	IGSF1_HUMAN			26	4832	-			1317					B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.3922C>A	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.363584	0.00015	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00634	6.1;6.09;6.1;6.07	4.1	0.305	0.15801	.	0.931560	0.08959	N	0.868903	T	0.00356	0.0011	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.42932	-0.9422	10	0.02654	T	1	.	3.4337	0.07438	0.0:0.2367:0.2154:0.5479	.	1308;761;1317	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	T	1308;1317;1308;1322	ENSP00000359947:P1308T;ENSP00000355010:P1317T;ENSP00000359941:P1308T;ENSP00000359940:P1322T	ENSP00000355010:P1317T	P	-	1	0	IGSF1	130235513	0.876000	0.30132	0.001000	0.08648	0.038000	0.13279	0.620000	0.24403	-0.049000	0.13379	-0.490000	0.04691	CCT		0.463	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			5	189	5	189	---	---	---	---
MT-ND4	4538	broad.mit.edu	37	M	10869	10869	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrM:10869T>C	ENST00000361381.2	+	1	110	c.110T>C	c.(109-111)aTc>aCc	p.I37T	MT-ND5_ENST00000361567.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TR_ENST00000387439.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	37					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						TATTAGCATCATCCCCCTACT	0.398																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(109-111)aTc>aCc		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001583	missense	4538							g.chrM:10869T>C			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.110T>C	M.37:g.10869T>C	ENSP00000354961:p.Ile37Thr						p.I37T							1	110	+								Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37	c.110T>C																																																																																					0.398	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		2	3	2	3	---	---	---	---
CCNYL1	151195	broad.mit.edu	37	2	208618360	208618362	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:208618360_208618362delAGA	ENST00000295414.3	+	10	1229_1231	c.1018_1020delAGA	c.(1018-1020)agadel	p.R341del	CCNYL1_ENST00000468768.1_3'UTR|CCNYL1_ENST00000392209.3_In_Frame_Del_p.R271del|MIR4775_ENST00000581168.1_RNA|RP11-801F7.1_ENST00000609146.1_RNA|CCNYL1_ENST00000339882.5_In_Frame_Del_p.R290del			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	341					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		AGCCGCTATGAGAAGGTCTTTCA	0.404																																						ENST00000295414.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(1018-1020)agadel		cyclin Y-like 1																																				SO:0001651	inframe_deletion	151195				regulation of cyclin-dependent protein kinase activity		protein kinase binding	g.chr2:208618360_208618362delAGA	AK095479	CCDS2377.1, CCDS46503.1	2q33.3	2008-02-05			ENSG00000163249	ENSG00000163249			26868	protein-coding gene	gene with protein product							Standard	NM_152523		Approved	FLJ40432	uc002vci.3	Q8N7R7	OTTHUMG00000132946	ENST00000295414.3:c.1018_1020delAGA	2.37:g.208618360_208618362delAGA	ENSP00000295414:p.Arg341del					CCNYL1_ENST00000468768.1_3'UTR|CCNYL1_ENST00000339882.5_In_Frame_Del_p.R290del|CCNYL1_ENST00000392209.3_In_Frame_Del_p.R271del	p.R341del			Q8N7R7	CCYL1_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)	10	1229_1231	+			341					Q6NX60	In_Frame_Del	DEL	ENST00000295414.3	37	c.1018_1020delAGA																																																																																					0.404	CCNYL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000337062.1	NM_152523		72	356	72	356	---	---	---	---
UBA6	55236	broad.mit.edu	37	4	68529609	68529610	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:68529609_68529610insT	ENST00000322244.5	-	11	1012_1013	c.953_954insA	c.(952-954)aacfs	p.N318fs	UBA6_ENST00000420827.2_Frame_Shift_Ins_p.N318fs	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	318					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TTACCTCAGGGTTGCTAAAATC	0.386																																						ENST00000322244.5																			0				central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(952-954)aacfs		ubiquitin-like modifier activating enzyme 6																																				SO:0001589	frameshift_variant	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68529609_68529610insT	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.954dupA	4.37:g.68529611_68529611dupT	ENSP00000313454:p.Asn318fs					UBA6_ENST00000420827.2_Frame_Shift_Ins_p.N318fs	p.N318fs	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN			11	1012_1013	-								A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Frame_Shift_Ins	INS	ENST00000322244.5	37	c.953_954insA	CCDS3516.1																																																																																				0.386	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		8	279	8	279	---	---	---	---
SURF4	6836	broad.mit.edu	37	9	136231748	136231748	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:136231748delT	ENST00000371989.3	-	5	640	c.511delA	c.(511-513)accfs	p.T171fs	SURF4_ENST00000485435.2_Intron|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_Intron|SURF4_ENST00000371991.3_Frame_Shift_Del_p.T171fs	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	171					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		TGAAGGAGGGTCATGAACATC	0.562																																						ENST00000371989.3																			0				kidney(1)|large_intestine(2)|lung(5)	8						c.(511-513)accfs		surfeit 4							100.0	80.0	87.0					9																	136231748		2203	4300	6503	SO:0001589	frameshift_variant	6836					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr9:136231748delT		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"""surfeit locus protein 4"", ""surface 4 integral membrane protein"""	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.511delA	9.37:g.136231748delT	ENSP00000361057:p.Thr171fs					SURF4_ENST00000545297.1_Intron|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000371991.3_Frame_Shift_Del_p.T171fs|SURF4_ENST00000485435.2_Intron	p.T171fs	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	5	640	-			171					B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Frame_Shift_Del	DEL	ENST00000371989.3	37	c.511delA	CCDS6968.1																																																																																				0.562	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		12	69	12	69	---	---	---	---
SLITRK4	139065	broad.mit.edu	37	X	142717743	142717743	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrX:142717743delT	ENST00000381779.4	-	2	1407	c.1182delA	c.(1180-1182)gtafs	p.V394fs	SLITRK4_ENST00000338017.4_Frame_Shift_Del_p.V394fs|SLITRK4_ENST00000356928.1_Frame_Shift_Del_p.V394fs	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	394						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGTCTGATACGTCCACAT	0.393																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(1180-1182)gtafs		SLIT and NTRK-like family, member 4							196.0	159.0	171.0					X																	142717743		2203	4300	6503	SO:0001589	frameshift_variant	139065					integral to membrane		g.chrX:142717743delT	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1182delA	X.37:g.142717743delT	ENSP00000371198:p.Val394fs					SLITRK4_ENST00000338017.4_Frame_Shift_Del_p.V394fs|SLITRK4_ENST00000356928.1_Frame_Shift_Del_p.V394fs	p.V394fs	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	1407	-	Acute lymphoblastic leukemia(192;6.56e-05)		394					Q5JXG3|Q8TCM8|Q96DL3	Frame_Shift_Del	DEL	ENST00000381779.4	37	c.1182delA	CCDS14679.1																																																																																				0.393	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		110	164	110	164	---	---	---	---
