#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_ACHILLES_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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
Unknown	0	broad.mit.edu	37	1	13183423	13183423	+	IGR	SNP	T	T	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:13183423T>C								RP13-221M14.3 (18955 upstream) : PRAMEF26 (32932 downstream)																							GTGAGGTGTTTCCTGATATGC	0.502																																							uc010obg.1		NA																	0					0						c.(448-450)GGA>GGG		heterogeneous nuclear ribonucleoprotein C-like							99.0	71.0	80.0					1																	13183423		692	1591	2283	SO:0001628	intergenic_variant	440563					ribonucleoprotein complex	nucleic acid binding|nucleotide binding	g.chr1:13183423T>C																													1.37:g.13183423T>C							p.G150G	NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN			1	545	-			150						Silent	SNP		37	c.450A>G																																																																																				0	0.502									34	313	0	0	0	0.003271	0	34	313				
USP48	84196	broad.mit.edu	37	1	22078009	22078009	+	Silent	SNP	T	T	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:22078009T>C	ENST00000308271.9	-	6	1413	c.765A>G	c.(763-765)gaA>gaG	p.E255E	USP48_ENST00000529637.1_Silent_p.E255E|USP48_ENST00000400301.1_Silent_p.E255E|USP48_ENST00000421625.2_Silent_p.E255E	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	255	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CCTTCAAAAATTCCGAGATAC	0.368																																							uc001bfb.2		NA																	0				ovary(1)|lung(1)	2						c.(763-765)GAA>GAG		ubiquitin specific protease 48 isoform a							109.0	113.0	112.0					1																	22078009		2202	4300	6502	SO:0001819	synonymous_variant	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22078009T>C	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.765A>G	1.37:g.22078009T>C						USP48_uc010odq.1_Silent_p.E255E|USP48_uc009vqc.2_Silent_p.E255E|USP48_uc001bfc.2_Silent_p.E255E|USP48_uc001bfe.1_Silent_p.E255E|USP48_uc001bff.2_Silent_p.E255E	p.E255E	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	6	1003	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	255					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000308271.9	37	c.765A>G	CCDS30623.1																																																																																				0.368	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		8	76	0	0	0	0.004482	0	8	76				
ZSWIM5	57643	broad.mit.edu	37	1	45500130	45500130	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:45500130A>G	ENST00000359600.5	-	11	2508	c.2303T>C	c.(2302-2304)tTa>tCa	p.L768S	AL359473.1_ENST00000583502.1_RNA	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	768						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGAGTTTTCTAAAACAGGTAA	0.542																																							uc001cnd.2		NA																	0					0						c.(2302-2304)TTA>TCA		zinc finger, SWIM domain containing 5							78.0	78.0	78.0					1																	45500130		1947	4146	6093	SO:0001583	missense	57643						zinc ion binding	g.chr1:45500130A>G	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.2303T>C	1.37:g.45500130A>G	ENSP00000352614:p.Leu768Ser						p.L768S	NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN			11	2531	-	Acute lymphoblastic leukemia(166;0.155)		768					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.2303T>C	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	a	23.4	4.407582	0.83340	.	.	ENSG00000162415	ENST00000359600	T	0.51817	0.69	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000001	T	0.69663	0.3136	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75388	-0.3335	10	0.87932	D	0	-5.1527	14.6248	0.68614	1.0:0.0:0.0:0.0	.	768	Q9P217	ZSWM5_HUMAN	S	768	ENSP00000352614:L768S	ENSP00000352614:L768S	L	-	2	0	ZSWIM5	45272717	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.025000	0.93694	2.006000	0.58801	0.460000	0.39030	TTA		0.542	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		25	48	0	0	0	0.005443	0	25	48				
DMBX1	127343	broad.mit.edu	37	1	46976691	46976691	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:46976691G>T	ENST00000360032.3	+	3	432	c.418G>T	c.(418-420)Gag>Tag	p.E140*	DMBX1_ENST00000371956.4_Nonsense_Mutation_p.E145*	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GAAGGAGGCTGAGGGCTCCCA	0.647																																							uc001cpx.2		NA																	0				ovary(1)	1						c.(433-435)GAG>TAG		diencephalon/mesencephalon homeobox 1 isoform b							46.0	55.0	52.0					1																	46976691		2203	4300	6503	SO:0001587	stop_gained	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46976691G>T	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.418G>T	1.37:g.46976691G>T	ENSP00000353132:p.Glu140*					DMBX1_uc001cpw.2_Nonsense_Mutation_p.E140*	p.E145*	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN			3	448	+	Acute lymphoblastic leukemia(166;0.155)		145			Interacts with OXT2 and is required for repressor activity (By similarity).			Nonsense_Mutation	SNP	ENST00000360032.3	37	c.433G>T	CCDS536.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800603	0.90538	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	.	.	.	4.73	4.73	0.59995	.	0.292714	0.35838	N	0.002955	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	16.7145	0.85394	0.0:0.0:1.0:0.0	.	.	.	.	X	145;140	.	ENSP00000353132:E140X	E	+	1	0	DMBX1	46749278	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.440000	0.66563	2.194000	0.70268	0.591000	0.81541	GAG		0.647	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			19	29	1	0	2.89027e-11	0.002299	4.66107e-11	19	29				
ACADM	34	broad.mit.edu	37	1	76205735	76205735	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:76205735G>T	ENST00000370841.4	+	7	976	c.539G>T	c.(538-540)gGa>gTa	p.G180V	ACADM_ENST00000541113.1_Missense_Mutation_p.G144V|ACADM_ENST00000370834.5_Missense_Mutation_p.G213V|ACADM_ENST00000543667.1_5'UTR|ACADM_ENST00000420607.2_Missense_Mutation_p.G184V	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	180					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	GAAAAGAAAGGAGATGAGTAT	0.328																																							uc001dgw.3		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(538-540)GGA>GTA		medium-chain acyl-CoA dehydrogenase isoform a							94.0	99.0	97.0					1																	76205735		2203	4299	6502	SO:0001583	missense	34				carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity	g.chr1:76205735G>T	M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.539G>T	1.37:g.76205735G>T	ENSP00000359878:p.Gly180Val					ACADM_uc010orc.1_3'UTR|ACADM_uc010ord.1_Missense_Mutation_p.G94V|ACADM_uc009wbp.2_Missense_Mutation_p.G184V|ACADM_uc009wbr.2_Missense_Mutation_p.G213V|ACADM_uc010ore.1_Missense_Mutation_p.G144V|ACADM_uc010orf.1_5'UTR|ACADM_uc001dgx.3_Missense_Mutation_p.G94V|ACADM_uc010org.1_Missense_Mutation_p.G50V	p.G180V	NM_000016	NP_000007	P11310	ACADM_HUMAN			7	969	+			180					Q5T4U4|Q9NYF1	Missense_Mutation	SNP	ENST00000370841.4	37	c.539G>T	CCDS668.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963910	0.92791	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000420607	D;D;D;D	0.99319	-5.74;-5.74;-5.74;-5.74	5.57	5.57	0.84162	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.85682	D	0.000000	D	0.99648	0.9870	H	0.94542	3.55	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.994;0.998;0.996;0.997	D	0.97917	1.0312	10	0.87932	D	0	.	19.157	0.93516	0.0:0.0:1.0:0.0	.	144;94;213;184;180	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	V	180;213;144;184	ENSP00000359878:G180V;ENSP00000359871:G213V;ENSP00000442324:G144V;ENSP00000409612:G184V	ENSP00000359871:G213V	G	+	2	0	ACADM	75978323	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.641000	0.98458	2.604000	0.88044	0.650000	0.86243	GGA		0.328	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1			4	13	1	0	0.00024832	0.000248	0.000318573	4	13				
ST6GALNAC3	256435	broad.mit.edu	37	1	76877814	76877815	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:76877814_76877815CC>AA	ENST00000328299.3	+	3	483_484	c.335_336CC>AA	c.(334-336)aCC>aAA	p.T112K	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	112					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AATGCCCCCACCAAAGGTTATG	0.455																																							uc001dhh.2		NA																	0				ovary(3)|skin(2)	5						c.(334-336)ACC>AAA		sialyltransferase 7C isoform 1																																				SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:76877814_76877815CC>AA		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	Exception_encountered	1.37:g.76877814_76877815delinsAA	ENSP00000329214:p.Thr112Lys					ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.T112K|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.T47K	p.T112K	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN			3	498_499	+			112			Lumenal (Potential).		Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	DNP	ENST00000328299.3	37	c.335_336CC>AA	CCDS672.1																																																																																				0.455	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		24	47	0	0	0	0.004672	0	24	47				
FAM73A	374986	broad.mit.edu	37	1	78269059	78269059	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:78269059A>T	ENST00000370791.3	+	4	510	c.478A>T	c.(478-480)Aaa>Taa	p.K160*	FAM73A_ENST00000443751.2_Nonsense_Mutation_p.K122*	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	160						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		ACTTTTCAGTAAATATTCAGG	0.303																																							uc001dhx.2		NA																	0				ovary(1)	1						c.(478-480)AAA>TAA		hypothetical protein LOC374986							56.0	55.0	55.0					1																	78269059		2202	4295	6497	SO:0001587	stop_gained	374986					integral to membrane		g.chr1:78269059A>T		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.478A>T	1.37:g.78269059A>T	ENSP00000359827:p.Lys160*					FAM73A_uc010ork.1_Nonsense_Mutation_p.K160*|FAM73A_uc010orl.1_Nonsense_Mutation_p.K122*|FAM73A_uc001dhy.1_5'UTR	p.K160*	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	4	510	+			160					Q6MZG0	Nonsense_Mutation	SNP	ENST00000370791.3	37	c.478A>T	CCDS681.1	.	.	.	.	.	.	.	.	.	.	A	36	5.848744	0.97023	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	.	.	.	4.92	4.92	0.64577	.	0.146167	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7065	14.8694	0.70444	1.0:0.0:0.0:0.0	.	.	.	.	X	160;122	.	ENSP00000359827:K160X	K	+	1	0	FAM73A	78041647	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	6.531000	0.73820	1.992000	0.58205	0.528000	0.53228	AAA		0.303	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		11	14	0	0	0	0.001368	0	11	14				
RPF1	80135	broad.mit.edu	37	1	84956127	84956127	+	Silent	SNP	T	T	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:84956127T>A	ENST00000370654.5	+	5	603	c.588T>A	c.(586-588)atT>atA	p.I196I		NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	196	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						CAGACCTGATTGTTATTAATG	0.358																																							uc001djv.3		NA																	0					0						c.(586-588)ATT>ATA		RNA processing factor 1							67.0	73.0	71.0					1																	84956127		2203	4300	6503	SO:0001819	synonymous_variant	80135				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding	g.chr1:84956127T>A	AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"""RNA processing factor 1"", ""ribosome production factor 1"""		"""brix domain containing 5"""	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.588T>A	1.37:g.84956127T>A							p.I196I	NM_025065	NP_079341	Q9H9Y2	RPF1_HUMAN			5	633	+			196			Brix.		Q5VSK7|Q6AHX1|Q8WXZ8	Silent	SNP	ENST00000370654.5	37	c.588T>A	CCDS695.1																																																																																				0.358	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027238.1	NM_025065		17	33	0	0	0	0.008871	0	17	33				
PLPPR4	9890	broad.mit.edu	37	1	99771281	99771281	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:99771281G>A	ENST00000370185.3	+	7	1504	c.1007G>A	c.(1006-1008)aGt>aAt	p.S336N	LPPR4_ENST00000457765.1_Missense_Mutation_p.S278N|LPPR4_ENST00000370184.1_Missense_Mutation_p.S178N	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		336					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGTGATGAGAGTATGTTTCAG	0.448																																							uc001dse.2		NA																	0				ovary(3)	3						c.(1006-1008)AGT>AAT		plasticity related gene 1							153.0	152.0	152.0					1																	99771281		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99771281G>A																												ENST00000370185.3:c.1007G>A	1.37:g.99771281G>A	ENSP00000359204:p.Ser336Asn					LPPR4_uc010oue.1_Missense_Mutation_p.S278N	p.S336N	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1113	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	336					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1007G>A	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	7.383	0.629274	0.14257	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.23348	2.48;2.5;1.91	5.62	4.69	0.59074	.	0.496131	0.25546	N	0.029938	T	0.02267	0.0070	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.41910	-0.9482	9	.	.	.	-9.7835	4.9628	0.14076	0.1827:0.1915:0.6258:0.0	.	278;336	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	N	336;278;336;178	ENSP00000359204:S336N;ENSP00000394913:S278N;ENSP00000359203:S178N	.	S	+	2	0	RP4-788L13.1	99543869	1.000000	0.71417	0.908000	0.35775	0.888000	0.51559	2.820000	0.48057	1.322000	0.45245	0.655000	0.94253	AGT		0.448	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			11	96	0	0	0	0.001368	0	11	96				
VCAM1	7412	broad.mit.edu	37	1	101188624	101188624	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:101188624G>A	ENST00000294728.2	+	3	490	c.389G>A	c.(388-390)gGg>gAg	p.G130E	VCAM1_ENST00000370115.1_Missense_Mutation_p.G130E|VCAM1_ENST00000347652.2_Missense_Mutation_p.G130E|VCAM1_ENST00000370119.4_Missense_Mutation_p.G68E	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	130	Ig-like C2-type 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTGGAGGCTGGGAAGCCGATC	0.438																																							uc001dti.2		NA																	0				central_nervous_system(1)	1						c.(388-390)GGG>GAG		vascular cell adhesion molecule 1 isoform a	Carvedilol(DB01136)						64.0	64.0	64.0					1																	101188624		2203	4299	6502	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101188624G>A	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.389G>A	1.37:g.101188624G>A	ENSP00000294728:p.Gly130Glu					VCAM1_uc001dtj.2_Missense_Mutation_p.G130E|VCAM1_uc010ouj.1_Missense_Mutation_p.G68E	p.G130E	NM_001078	NP_001069	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	3	509	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	130			Ig-like C2-type 2.|Extracellular (Potential).		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.389G>A	CCDS773.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145299	0.77888	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.10668	2.85;2.85;2.85;2.85	5.63	5.63	0.86233	Intercellular adhesion molecule/vascular cell adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.098726	0.64402	D	0.000001	T	0.27731	0.0682	M	0.78456	2.415	0.58432	D	0.999994	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.74348	0.983;0.962;0.967	T	0.00936	-1.1508	10	0.87932	D	0	-20.8263	16.967	0.86288	0.0:0.0:1.0:0.0	.	68;130;130	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	E	68;130;130;130	ENSP00000359137:G68E;ENSP00000304611:G130E;ENSP00000294728:G130E;ENSP00000359133:G130E	ENSP00000294728:G130E	G	+	2	0	VCAM1	100961212	0.998000	0.40836	0.761000	0.31378	0.860000	0.49131	2.988000	0.49386	2.814000	0.96858	0.591000	0.81541	GGG		0.438	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		8	25	0	0	0	0.00308	0	8	25				
VAV3	10451	broad.mit.edu	37	1	108507383	108507383	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:108507383G>C	ENST00000370056.4	-	1	383	c.109C>G	c.(109-111)Ctc>Gtc	p.L37V	VAV3-AS1_ENST00000438318.1_RNA|VAV3_ENST00000527011.1_Missense_Mutation_p.L37V|VAV3_ENST00000371846.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	37	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CCATCGCGGAGGGTCTGCGCA	0.622																																							uc001dvk.1		NA																	0				ovary(5)|lung(2)|breast(2)	9						c.(109-111)CTC>GTC		vav 3 guanine nucleotide exchange factor isoform							68.0	57.0	61.0					1																	108507383		2203	4300	6503	SO:0001583	missense	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108507383G>C	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.109C>G	1.37:g.108507383G>C	ENSP00000359073:p.Leu37Val					VAV3_uc010ouw.1_Missense_Mutation_p.L37V|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Missense_Mutation_p.L37V	p.L37V	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	1	163	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	37			CH.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	c.109C>G	CCDS785.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028402	0.93518	.	.	ENSG00000134215	ENST00000370056;ENST00000527011	T;T	0.60797	0.16;0.16	5.05	5.05	0.67936	Calponin homology domain (5);	0.000000	0.64402	D	0.000003	T	0.80788	0.4690	H	0.95187	3.635	0.80722	D	1	D;P;D	0.60160	0.987;0.876;0.978	D;P;D	0.74348	0.983;0.684;0.935	D	0.86811	0.1998	10	0.87932	D	0	.	17.0519	0.86521	0.0:0.0:1.0:0.0	.	37;37;37	B7ZLR1;E9PQ97;Q9UKW4	.;.;VAV3_HUMAN	V	37	ENSP00000359073:L37V;ENSP00000432540:L37V	ENSP00000359073:L37V	L	-	1	0	VAV3	108308906	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.102000	0.64572	2.388000	0.81334	0.456000	0.33151	CTC		0.622	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		10	35	0	0	0	0.008291	0	10	35				
SLC16A1	6566	broad.mit.edu	37	1	113459922	113459922	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:113459922C>A	ENST00000538576.1	-	4	1937	c.1106G>T	c.(1105-1107)tGg>tTg	p.W369L	SLC16A1_ENST00000369626.3_Missense_Mutation_p.W369L|SLC16A1_ENST00000433570.4_Missense_Mutation_p.W369L	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	369					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	GGAGCTGAGCCACCCGAAGGC	0.488																																							uc001ecx.2		NA																	0				central_nervous_system(1)	1						c.(1105-1107)TGG>TTG		solute carrier family 16, member 1	Pyruvic acid(DB00119)						58.0	52.0	54.0					1																	113459922		2203	4300	6503	SO:0001583	missense	6566				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr1:113459922C>A	BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.1106G>T	1.37:g.113459922C>A	ENSP00000441065:p.Trp369Leu					SLC16A1_uc001ecy.2_Missense_Mutation_p.W369L|SLC16A1_uc001ecz.2_Missense_Mutation_p.W369L	p.W369L	NM_003051	NP_003042	P53985	MOT1_HUMAN		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	4	1938	-	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)	369			Helical; (Potential).		Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	ENST00000538576.1	37	c.1106G>T	CCDS858.1	.	.	.	.	.	.	.	.	.	.	C	7.994	0.753975	0.15778	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.56	5.56	0.83823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	M	0.64260	1.97	0.80722	D	1	B;P	0.42871	0.425;0.792	B;B	0.43194	0.3;0.411	T	0.40534	-0.9558	10	0.02654	T	1	.	19.4915	0.95052	0.0:1.0:0.0:0.0	.	369;369	Q49A45;P53985	.;MOT1_HUMAN	L	369	ENSP00000358640:W369L;ENSP00000441065:W369L;ENSP00000416167:W369L;ENSP00000445061:W369L	ENSP00000358640:W369L	W	-	2	0	SLC16A1	113261445	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.448000	0.44926	2.771000	0.95319	0.563000	0.77884	TGG		0.488	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051		10	15	1	0	1.76689e-08	0.006214	2.65324e-08	10	15				
TSHB	7252	broad.mit.edu	37	1	115576107	115576107	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:115576107A>G	ENST00000369517.1	+	1	124	c.124A>G	c.(124-126)Atc>Gtc	p.I42V	TSHB_ENST00000256592.1_Missense_Mutation_p.I42V			P01222	TSHB_HUMAN	thyroid stimulating hormone, beta	42					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|G-protein coupled receptor signaling pathway (GO:0007186)|peptide hormone processing (GO:0016486)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to vitamin A (GO:0033189)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TTGCCTAACCATCAACACCAC	0.418																																							uc001efs.1		NA																	0					0						c.(124-126)ATC>GTC		thyroid stimulating hormone, beta precursor							243.0	208.0	220.0					1																	115576107		2203	4300	6503	SO:0001583	missense	7252				anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity	g.chr1:115576107A>G	BC069298	CCDS880.1	1p13	2013-02-28			ENSG00000134200	ENSG00000134200		"""Endogenous ligands"""	12372	protein-coding gene	gene with protein product		188540				2457586, 3243440	Standard	NM_000549		Approved		uc001efs.2	P01222	OTTHUMG00000011881	ENST00000369517.1:c.124A>G	1.37:g.115576107A>G	ENSP00000358530:p.Ile42Val						p.I42V	NM_000549	NP_000540	P01222	TSHB_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	2	192	+	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	42					B1AKP0|Q16163	Missense_Mutation	SNP	ENST00000369517.1	37	c.124A>G	CCDS880.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.853710	0.32791	.	.	ENSG00000134200	ENST00000256592;ENST00000369517	T;T	0.56444	0.46;0.46	6.17	2.66	0.31614	Cystine knot (1);	0.154324	0.56097	N	0.000025	T	0.22936	0.0554	L	0.33710	1.025	0.39634	D	0.970227	B	0.24368	0.102	B	0.33339	0.162	T	0.04178	-1.0971	10	0.19590	T	0.45	0.3122	9.5668	0.39402	0.8007:0.0:0.1993:0.0	.	42	P01222	TSHB_HUMAN	V	42	ENSP00000256592:I42V;ENSP00000358530:I42V	ENSP00000256592:I42V	I	+	1	0	TSHB	115377630	1.000000	0.71417	0.995000	0.50966	0.905000	0.53344	3.028000	0.49705	0.557000	0.29117	-0.290000	0.09829	ATC		0.418	TSHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032833.2	NM_000549		12	65	0	0	0	0.001368	0	12	65				
RPRD2	23248	broad.mit.edu	37	1	150444633	150444633	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:150444633C>G	ENST00000369068.4	+	11	3213	c.3209C>G	c.(3208-3210)tCc>tGc	p.S1070C	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.S1044C	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1070						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GTCTCCTCCTCCTGCTTAGAC	0.532																																							uc009wlr.2		NA																	0				ovary(1)	1						c.(3208-3210)TCC>TGC		Regulation of nuclear pre-mRNA domain containing							62.0	64.0	64.0					1																	150444633		1992	4172	6164	SO:0001583	missense	23248						protein binding	g.chr1:150444633C>G	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.3209C>G	1.37:g.150444633C>G	ENSP00000358064:p.Ser1070Cys					RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.S1044C	p.S1070C	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN			11	3410	+			1070					A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.3209C>G	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517032	0.44763	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.60040	0.22;0.23	5.03	4.11	0.48088	.	0.087059	0.49305	D	0.000159	T	0.46600	0.1401	N	0.24115	0.695	0.80722	D	1	D;D	0.71674	0.997;0.998	P;P	0.59889	0.737;0.865	T	0.56074	-0.8039	10	0.87932	D	0	-11.1833	11.2579	0.49065	0.0:0.9148:0.0:0.0852	.	1070;1044	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	C	1044;1070	ENSP00000383785:S1044C;ENSP00000358064:S1070C	ENSP00000358064:S1070C	S	+	2	0	RPRD2	148711257	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.076000	0.64413	1.328000	0.45358	0.655000	0.94253	TCC		0.532	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		5	87	0	0	0	0.000602	0	5	87				
TCHHL1	126637	broad.mit.edu	37	1	152059651	152059651	+	Silent	SNP	T	T	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:152059651T>A	ENST00000368806.1	-	3	571	c.507A>T	c.(505-507)ccA>ccT	p.P169P		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	169							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ATGCTTCTCCTGGAAAGTTGT	0.443																																							uc001ezo.1		NA																	0				ovary(1)|skin(1)	2						c.(505-507)CCA>CCT		trichohyalin-like 1							138.0	126.0	130.0					1																	152059651		2203	4300	6503	SO:0001819	synonymous_variant	126637						calcium ion binding	g.chr1:152059651T>A		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.507A>T	1.37:g.152059651T>A							p.P169P	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	572	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		169					B2RPK8|Q5VTJ9	Silent	SNP	ENST00000368806.1	37	c.507A>T	CCDS30857.1																																																																																				0.443	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		36	58	0	0	0	0.004878	0	36	58				
FLG2	388698	broad.mit.edu	37	1	152327652	152327652	+	Silent	SNP	G	G	A	rs12737224	byFrequency	TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:152327652G>A	ENST00000388718.5	-	3	2682	c.2610C>T	c.(2608-2610)ggC>ggT	p.G870G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	870	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGTCCAAAGCCAGATGTCT	0.502																																							uc001ezw.3		NA																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(2608-2610)GGC>GGT		filaggrin family member 2							370.0	320.0	337.0					1																	152327652		2200	4264	6464	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152327652G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2610C>T	1.37:g.152327652G>A						uc001ezv.2_Intron	p.G870G	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2683	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		870			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.2610C>T	CCDS30861.1																																																																																				0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		69	435	0	0	0	0.00361	0	69	435				
LCE2D	353141	broad.mit.edu	37	1	152636910	152636910	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:152636910G>A	ENST00000368784.1	+	2	384	c.329G>A	c.(328-330)tGc>tAc	p.C110Y		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	110	Cys-rich.				keratinization (GO:0031424)					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGGGCTGCTGCTGACCTGGG	0.587																																							uc001fag.2		NA																	0					0						c.(328-330)TGC>TAC		late cornified envelope 2D							36.0	43.0	41.0					1																	152636910		2161	4259	6420	SO:0001583	missense	353141				keratinization			g.chr1:152636910G>A	BI670513	CCDS1018.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000187223	ENSG00000187223		"""Late cornified envelopes"""	16518	protein-coding gene	gene with protein product		612612	"""small proline rich-like (epidermal differentiation complex) 1A"""	SPRL1A		11698679	Standard	NM_178430		Approved	LEP12	uc001fag.4	Q5TA82	OTTHUMG00000014400	ENST00000368784.1:c.329G>A	1.37:g.152636910G>A	ENSP00000357773:p.Cys110Tyr						p.C110Y	NM_178430	NP_848517	Q5TA82	LCE2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	384	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		110			Cys-rich.		A1L4M8	Missense_Mutation	SNP	ENST00000368784.1	37	c.329G>A	CCDS1018.1	.	.	.	.	.	.	.	.	.	.	g	8.246	0.807824	0.16467	.	.	ENSG00000187223	ENST00000368784	T	0.03801	3.8	2.99	2.99	0.34606	.	.	.	.	.	T	0.09247	0.0228	M	0.72353	2.195	0.23754	N	0.996937	D	0.69078	0.997	D	0.72982	0.979	T	0.07539	-1.0767	9	0.87932	D	0	.	9.2572	0.37590	0.0:0.0:1.0:0.0	.	110	Q5TA82	LCE2D_HUMAN	Y	110	ENSP00000357773:C110Y	ENSP00000357773:C110Y	C	+	2	0	LCE2D	150903534	0.983000	0.35010	0.576000	0.28549	0.208000	0.24298	1.328000	0.33758	1.481000	0.48307	0.305000	0.20034	TGC		0.587	LCE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040058.1	NM_178430		39	56	0	0	0	0.006999	0	39	56				
OR10J5	127385	broad.mit.edu	37	1	159505512	159505512	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:159505512C>T	ENST00000334857.2	-	1	330	c.286G>A	c.(286-288)Ggc>Agc	p.G96S		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GTAGCACAGCCTGCCAAGGAG	0.463																																							uc010piw.1		NA																	0				skin(2)|ovary(1)	3						c.(286-288)GGC>AGC		olfactory receptor, family 10, subfamily J,							132.0	115.0	121.0					1																	159505512		2203	4300	6503	SO:0001583	missense	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505512C>T		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.286G>A	1.37:g.159505512C>T	ENSP00000334441:p.Gly96Ser						p.G96S	NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN			1	286	-	all_hematologic(112;0.0429)		96			Extracellular (Potential).		B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	c.286G>A	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	C	9.527	1.109826	0.20714	.	.	ENSG00000184155	ENST00000334857	T	0.09445	2.98	4.32	3.4	0.38934	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04363	0.0120	L	0.49455	1.56	0.09310	N	0.99999	B	0.20368	0.044	B	0.20767	0.031	T	0.31586	-0.9938	9	0.44086	T	0.13	.	10.2586	0.43412	0.0:0.9012:0.0:0.0988	.	96	Q8NHC4	O10J5_HUMAN	S	96	ENSP00000334441:G96S	ENSP00000334441:G96S	G	-	1	0	OR10J5	157772136	0.023000	0.18921	0.109000	0.21407	0.220000	0.24768	2.901000	0.48695	1.158000	0.42547	0.467000	0.42956	GGC		0.463	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		19	59	0	0	0	0.008871	0	19	59				
NME7	29922	broad.mit.edu	37	1	169292473	169292473	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:169292473T>A	ENST00000367811.3	-	3	416	c.160A>T	c.(160-162)Aac>Tac	p.N54Y	NME7_ENST00000469474.1_5'UTR|RP4-800F24.1_ENST00000432081.1_RNA|NME7_ENST00000472647.1_Missense_Mutation_p.N18Y	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	54	DM10. {ECO:0000255|PROSITE- ProRule:PRU00665}.				brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					AAGTGCAGGTTATCATATTTG	0.348																																							uc001gfu.2		NA																	0				central_nervous_system(1)	1						c.(160-162)AAC>TAC		nucleoside diphosphate kinase 7 isoform a							158.0	169.0	165.0					1																	169292473		2203	4300	6503	SO:0001583	missense	29922				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr1:169292473T>A	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.160A>T	1.37:g.169292473T>A	ENSP00000356785:p.Asn54Tyr					NME7_uc010plq.1_RNA|NME7_uc001gft.2_Missense_Mutation_p.N18Y|NME7_uc001gfv.1_Missense_Mutation_p.N54Y	p.N54Y	NM_013330	NP_037462	Q9Y5B8	NDK7_HUMAN			3	398	-	all_hematologic(923;0.208)		54			DM10.		A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	c.160A>T	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.233789	0.39498	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.55413	0.52;0.52	5.48	3.32	0.38043	Uncharacterised domain DM10 (2);	0.755305	0.13453	N	0.386790	T	0.33933	0.0880	L	0.38175	1.15	0.20563	N	0.999881	B;B	0.30033	0.266;0.038	B;B	0.42555	0.222;0.391	T	0.37502	-0.9703	9	0.66056	D	0.02	-7.8699	7.9573	0.30051	0.0:0.6662:0.0:0.3338	.	58;54	Q59GR0;Q9Y5B8	.;NDK7_HUMAN	Y	18;54	ENSP00000433341:N18Y;ENSP00000356785:N54Y	ENSP00000356785:N54Y	N	-	1	0	NME7	167559097	0.000000	0.05858	0.303000	0.25071	0.868000	0.49771	0.974000	0.29436	1.251000	0.43983	0.533000	0.62120	AAC		0.348	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330		20	164	0	0	0	0.00278	0	20	164				
TNR	7143	broad.mit.edu	37	1	175355258	175355258	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:175355258C>G	ENST00000367674.2	-	8	2395	c.1687G>C	c.(1687-1689)Gcc>Ccc	p.A563P	TNR_ENST00000263525.2_Missense_Mutation_p.A563P			Q92752	TENR_HUMAN	tenascin R	563	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGCCGCAGGGCCTGCACTGAG	0.592																																							uc001gkp.1		NA																	0				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(1687-1689)GCC>CCC		tenascin R precursor							55.0	54.0	54.0					1																	175355258		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175355258C>G	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1687G>C	1.37:g.175355258C>G	ENSP00000356646:p.Ala563Pro					TNR_uc009wwu.1_Missense_Mutation_p.A563P	p.A563P	NM_003285	NP_003276	Q92752	TENR_HUMAN			6	1768	-	Renal(580;0.146)		563			Fibronectin type-III 3.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1687G>C	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927344	0.92389	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.04360	3.64;3.64	5.58	5.58	0.84498	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.059888	0.64402	D	0.000002	T	0.12774	0.0310	N	0.22421	0.69	0.53005	D	0.999965	D	0.71674	0.998	D	0.69307	0.963	T	0.05321	-1.0892	10	0.66056	D	0.02	.	19.1714	0.93580	0.0:1.0:0.0:0.0	.	563	Q92752	TENR_HUMAN	P	563	ENSP00000356646:A563P;ENSP00000263525:A563P	ENSP00000263525:A563P	A	-	1	0	TNR	173621881	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.145000	0.77365	2.613000	0.88420	0.650000	0.86243	GCC		0.592	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		34	66	0	0	0	0.002096	0	34	66				
ASTN1	460	broad.mit.edu	37	1	176863850	176863850	+	Missense_Mutation	SNP	G	G	T	rs147140947	byFrequency	TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:176863850G>T	ENST00000367654.3	-	17	3023	c.2812C>A	c.(2812-2814)Cgc>Agc	p.R938S	ASTN1_ENST00000424564.2_Missense_Mutation_p.R930S|ASTN1_ENST00000361833.2_Missense_Mutation_p.R930S|ASTN1_ENST00000367657.3_Missense_Mutation_p.R930S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	938					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACTCCATGCGGACTCCAGCC	0.607																																							uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2788-2790)CGC>AGC		astrotactin isoform 1							97.0	94.0	95.0					1																	176863850		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176863850G>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2812C>A	1.37:g.176863850G>T	ENSP00000356626:p.Arg938Ser					ASTN1_uc001glb.1_Missense_Mutation_p.R930S|ASTN1_uc001gld.1_Missense_Mutation_p.R930S	p.R930S	NM_004319	NP_004310	O14525	ASTN1_HUMAN			17	3000	-			938					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.2788C>A		.	.	.	.	.	.	.	.	.	.	G	32	5.109359	0.94292	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	L	0.46157	1.445	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.72982	0.979;0.979	T	0.50083	-0.8869	10	0.72032	D	0.01	-29.566	18.8334	0.92150	0.0:0.0:1.0:0.0	.	930;930	O14525-2;B1AJS1	.;.	S	930;930;938;930;930	ENSP00000356629:R930S;ENSP00000354536:R930S;ENSP00000356626:R938S;ENSP00000395041:R930S	ENSP00000354536:R930S	R	-	1	0	ASTN1	175130473	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.981000	0.76166	2.640000	0.89533	0.655000	0.94253	CGC		0.607	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		20	94	1	0	2.41591e-17	0.004656	4.42595e-17	20	94				
NPHS2	7827	broad.mit.edu	37	1	179521776	179521777	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:179521776_179521777CC>AG	ENST00000367615.4	-	7	902_903	c.834_835GG>CT	c.(832-837)ctGGct>ctCTct	p.A279S	AXDND1_ENST00000367618.3_Intron|NPHS2_ENST00000367616.4_Missense_Mutation_p.A211S	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	279					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GCCTCCACAGCCAGTGAGTGCT	0.525																																							uc001gmq.3		NA																	0					0						c.(832-837)CTGGCT>CTCTCT		podocin																																				SO:0001583	missense	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179521776_179521777CC>AG	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.834_835delinsAG	1.37:g.179521776_179521777delinsAG	ENSP00000356587:p.Ala279Ser					C1orf125_uc009wxg.2_Intron|C1orf125_uc001gmo.2_Intron|C1orf125_uc001gmp.2_Intron|C1orf125_uc009wxh.2_Intron|NPHS2_uc009wxi.2_Missense_Mutation_p.A211S|C1orf125_uc001gmr.2_RNA	p.A279S	NM_014625	NP_055440	Q9NP85	PODO_HUMAN			7	919_920	-			279			Cytoplasmic (Potential).		B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	DNP	ENST00000367615.4	37	c.834_835GG>CT	CCDS1331.1																																																																																				0.525	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			6	53	0	0	0	0.004672	0	6	53				
CACNA1E	777	broad.mit.edu	37	1	181693670	181693670	+	Silent	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:181693670C>A	ENST00000367573.2	+	17	2139	c.2139C>A	c.(2137-2139)acC>acA	p.T713T	CACNA1E_ENST00000358338.5_Silent_p.T664T|CACNA1E_ENST00000360108.3_Silent_p.T713T|CACNA1E_ENST00000526775.1_Silent_p.T713T|CACNA1E_ENST00000367570.1_Silent_p.T713T|CACNA1E_ENST00000357570.5_Silent_p.T664T|CACNA1E_ENST00000367567.4_Silent_p.T320T	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	713					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGGAACTGACCAAGGTAAGCA	0.463																																							uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(2137-2139)ACC>ACA		calcium channel, voltage-dependent, R type,							128.0	122.0	124.0					1																	181693670		1973	4167	6140	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181693670C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2139C>A	1.37:g.181693670C>A						CACNA1E_uc009wxs.2_Silent_p.T620T	p.T713T	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			17	2304	+			713			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.2139C>A	CCDS55664.1																																																																																				0.463	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		7	18	1	0	1.06961e-07	0.00308	1.58538e-07	7	18				
CACNA1E	777	broad.mit.edu	37	1	181764047	181764047	+	Silent	SNP	G	G	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:181764047G>C	ENST00000367573.2	+	46	6075	c.6075G>C	c.(6073-6075)cgG>cgC	p.R2025R	CACNA1E_ENST00000358338.5_Silent_p.R1914R|CACNA1E_ENST00000360108.3_Silent_p.R2006R|CACNA1E_ENST00000526775.1_Silent_p.R1963R|CACNA1E_ENST00000367570.1_Silent_p.R1982R|CACNA1E_ENST00000357570.5_Silent_p.R1976R|CACNA1E_ENST00000367567.4_Silent_p.R1589R	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2025					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCACTATTCGGGATAAGCGTT	0.483																																							uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(5944-5946)CGG>CGC		calcium channel, voltage-dependent, R type,							81.0	78.0	79.0					1																	181764047		1913	4133	6046	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181764047G>C	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6075G>C	1.37:g.181764047G>C						CACNA1E_uc009wxs.2_Silent_p.R1870R|CACNA1E_uc009wxt.2_Silent_p.R1251R	p.R1982R	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			45	6111	+			2025			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.5946G>C	CCDS55664.1																																																																																				0.483	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		23	30	0	0	0	0.002299	0	23	30				
ASPM	259266	broad.mit.edu	37	1	197062214	197062214	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:197062214C>T	ENST00000367409.4	-	21	9518	c.9262G>A	c.(9262-9264)Gca>Aca	p.A3088T	ASPM_ENST00000294732.7_Missense_Mutation_p.A1503T|ASPM_ENST00000367408.1_Missense_Mutation_p.A753T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3088	IQ 37. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CGCACCAGTGCTTGTAGGATA	0.333																																							uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(9262-9264)GCA>ACA		asp (abnormal spindle)-like, microcephaly							75.0	76.0	76.0					1																	197062214		2203	4299	6502	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197062214C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9262G>A	1.37:g.197062214C>T	ENSP00000356379:p.Ala3088Thr					ASPM_uc001gtv.2_Missense_Mutation_p.A1503T|ASPM_uc001gtw.3_Missense_Mutation_p.A936T	p.A3088T	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			21	9519	-			3088			IQ 37.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.9262G>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077734	0.76528	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;T	0.34472	1.36;1.36;1.36	5.28	4.36	0.52297	.	0.239785	0.35262	N	0.003334	T	0.53610	0.1807	M	0.78049	2.395	0.33212	D	0.553535	D;P;P	0.76494	0.999;0.896;0.943	P;P;P	0.59825	0.864;0.721;0.854	T	0.67039	-0.5771	10	0.39692	T	0.17	.	11.1026	0.48184	0.0:0.9143:0.0:0.0857	.	1074;1503;3088	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	T	3088;1503;753;1074	ENSP00000356379:A3088T;ENSP00000294732:A1503T;ENSP00000356378:A753T	ENSP00000294732:A1503T	A	-	1	0	ASPM	195328837	0.997000	0.39634	0.979000	0.43373	0.947000	0.59692	1.910000	0.39927	1.208000	0.43306	0.655000	0.94253	GCA		0.333	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		27	27	0	0	0	0.008361	0	27	27				
DENND1B	163486	broad.mit.edu	37	1	197522116	197522116	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:197522116G>T	ENST00000367396.3	-	16	1445	c.1276C>A	c.(1276-1278)Caa>Aaa	p.Q426K	DENND1B_ENST00000235453.4_Missense_Mutation_p.Q396K|DENND1B_ENST00000400967.2_Missense_Mutation_p.Q396K	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	426					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						AATTGTTATTGAGAAAATGGA	0.318																																							uc001guf.3		NA																	0					0						c.(1276-1278)CAA>AAA		DENN/MADD domain containing 1B isoform 2							105.0	103.0	103.0					1																	197522116		1823	4088	5911	SO:0001583	missense	163486					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr1:197522116G>T	BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"""DENN/MADD domain containing"""	28404	protein-coding gene	gene with protein product		613292	"""family with sequence similarity 31, member B"", ""chromosome 1 open reading frame 218"""	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.1276C>A	1.37:g.197522116G>T	ENSP00000356366:p.Gln426Lys					DENND1B_uc010ppe.1_Intron|DENND1B_uc010ppf.1_Intron|DENND1B_uc001gue.3_Missense_Mutation_p.Q396K	p.Q426K	NM_144977	NP_659414	Q6P3S1	DEN1B_HUMAN			16	1614	-			426					B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Missense_Mutation	SNP	ENST00000367396.3	37	c.1276C>A	CCDS41452.2	.	.	.	.	.	.	.	.	.	.	G	8.028	0.761079	0.15914	.	.	ENSG00000213047	ENST00000235453;ENST00000367396;ENST00000400967	T;T;T	0.10960	3.16;2.82;3.16	4.91	-2.54	0.06307	.	.	.	.	.	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45264	-0.9273	9	0.13853	T	0.58	.	1.6054	0.02683	0.15:0.196:0.1541:0.4999	.	426;396	Q6P3S1;Q6P3S1-4	DEN1B_HUMAN;.	K	396;426;396	ENSP00000235453:Q396K;ENSP00000356366:Q426K;ENSP00000383751:Q396K	ENSP00000235453:Q396K	Q	-	1	0	DENND1B	195788739	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.381000	0.07417	-0.271000	0.09272	-2.361000	0.00239	CAA		0.318	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086539.1	NM_144977		5	35	1	0	0.000602214	0.000602	0.000755655	5	35				
CACNA1S	779	broad.mit.edu	37	1	201028356	201028356	+	Silent	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:201028356G>T	ENST00000362061.3	-	27	3712	c.3486C>A	c.(3484-3486)acC>acA	p.T1162T	CACNA1S_ENST00000367338.3_Silent_p.T1162T	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1162					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCATCTCCAGGGTGAAGATGA	0.582																																							uc001gvv.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3484-3486)ACC>ACA		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						146.0	124.0	131.0					1																	201028356		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201028356G>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3486C>A	1.37:g.201028356G>T							p.T1162T	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			27	3713	-			1162			IV.|Helical; Name=S2 of repeat IV; (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.3486C>A	CCDS1407.1																																																																																				0.582	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		27	40	1	0	1.17739e-12	0.005443	1.97526e-12	27	40				
CACNA1S	779	broad.mit.edu	37	1	201046253	201046253	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:201046253T>A	ENST00000362061.3	-	12	1848	c.1622A>T	c.(1621-1623)tAt>tTt	p.Y541F	CACNA1S_ENST00000367338.3_Missense_Mutation_p.Y541F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	541					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGACGTCCAATATCTGAAGGA	0.592																																							uc001gvv.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1621-1623)TAT>TTT		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						69.0	65.0	66.0					1																	201046253		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046253T>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1622A>T	1.37:g.201046253T>A	ENSP00000355192:p.Tyr541Phe						p.Y541F	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			12	1849	-			541			II.|Helical; Name=S4 of repeat II; (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1622A>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.679780	0.47886	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98437	-4.93;-4.93	4.45	4.45	0.53987	Ion transport (1);	0.185947	0.48767	D	0.000164	D	0.97914	0.9314	M	0.63169	1.94	0.43608	D	0.995979	P	0.37824	0.609	P	0.48901	0.594	D	0.99056	1.0829	10	0.87932	D	0	.	14.0049	0.64456	0.0:0.0:0.0:1.0	.	541	Q13698	CAC1S_HUMAN	F	541	ENSP00000355192:Y541F;ENSP00000356307:Y541F	ENSP00000355192:Y541F	Y	-	2	0	CACNA1S	199312876	1.000000	0.71417	1.000000	0.80357	0.145000	0.21501	7.912000	0.87465	1.777000	0.52277	0.448000	0.29417	TAT		0.592	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		5	35	0	0	0	0.001168	0	5	35				
NAV1	89796	broad.mit.edu	37	1	201749685	201749685	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:201749685G>A	ENST00000367296.4	+	4	1783	c.1363G>A	c.(1363-1365)Gtg>Atg	p.V455M	NAV1_ENST00000295624.6_Missense_Mutation_p.V455M|NAV1_ENST00000367297.4_Missense_Mutation_p.V455M|NAV1_ENST00000367302.1_Missense_Mutation_p.V468M|NAV1_ENST00000367295.1_Missense_Mutation_p.V64M|NAV1_ENST00000367300.3_Missense_Mutation_p.V455M|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	455					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CTCAACAATAGTGGTACGTGA	0.498																																							uc001gwu.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(1363-1365)GTG>ATG		neuron navigator 1							100.0	91.0	94.0					1																	201749685		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201749685G>A	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1363G>A	1.37:g.201749685G>A	ENSP00000356265:p.Val455Met					NAV1_uc001gwv.1_Translation_Start_Site|NAV1_uc001gww.1_Missense_Mutation_p.V64M|NAV1_uc001gwx.2_Missense_Mutation_p.V64M|NAV1_uc001gwy.1_5'Flank	p.V455M	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN			4	1710	+			455					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.1363G>A	CCDS1414.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.68|14.68	2.606856|2.606856	0.46527|0.46527	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000430015|ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295	.|T;T;T;T;T;T	.|0.35421	.|1.31;1.31;1.31;1.31;1.31;1.31	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.309940	.|0.34906	.|N	.|0.003591	T|T	0.27098|0.27098	0.0664|0.0664	N|N	0.12182|0.12182	0.205|0.205	0.31415|0.31415	N|N	0.675057|0.675057	.|B;B;B	.|0.18610	.|0.017;0.025;0.029	.|B;B;B	.|0.22753	.|0.013;0.041;0.013	T|T	0.17592|0.17592	-1.0364|-1.0364	5|10	.|0.48119	.|T	.|0.1	-21.8465|-21.8465	19.1766|19.1766	0.93604|0.93604	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|64;455;455	.|Q8NEY1-5;Q8NEY1;Q8NEY1-3	.|.;NAV1_HUMAN;.	N|M	12|468;455;455;455;455;64	.|ENSP00000356271:V468M;ENSP00000356265:V455M;ENSP00000295624:V455M;ENSP00000356266:V455M;ENSP00000356269:V455M;ENSP00000356264:V64M	.|ENSP00000295624:V455M	S|V	+|+	2|1	0|0	NAV1|NAV1	200016308|200016308	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.987000|0.987000	0.75469|0.75469	5.127000|5.127000	0.64727|0.64727	2.608000|2.608000	0.88229|0.88229	0.655000|0.655000	0.94253|0.94253	AGT|GTG		0.498	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		21	65	0	0	0	0.00333	0	21	65				
PIGR	5284	broad.mit.edu	37	1	207112529	207112529	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:207112529T>C	ENST00000356495.4	-	3	506	c.323A>G	c.(322-324)tAc>tGc	p.Y108C		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	108	Ig-like V-type 1.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCCACACTTGTAGCGCCCGGA	0.572																																							uc001hez.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(322-324)TAC>TGC		polymeric immunoglobulin receptor precursor							75.0	65.0	68.0					1																	207112529		2203	4300	6503	SO:0001583	missense	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207112529T>C		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.323A>G	1.37:g.207112529T>C	ENSP00000348888:p.Tyr108Cys					PIGR_uc009xbz.2_Missense_Mutation_p.Y108C	p.Y108C	NM_002644	NP_002635	P01833	PIGR_HUMAN			3	507	-			108			Ig-like V-type 1.|Extracellular (Potential).		Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	c.323A>G	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	T	19.50	3.839013	0.71373	.	.	ENSG00000162896	ENST00000356495	D	0.94497	-3.44	5.67	5.67	0.87782	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000008	D	0.97939	0.9322	H	0.95004	3.61	0.49213	D	0.999764	D	0.89917	1.0	D	0.97110	1.0	D	0.98953	1.0795	10	0.87932	D	0	-20.6353	13.9439	0.64073	0.0:0.0:0.0:1.0	.	108	P01833	PIGR_HUMAN	C	108	ENSP00000348888:Y108C	ENSP00000348888:Y108C	Y	-	2	0	PIGR	205179152	1.000000	0.71417	0.998000	0.56505	0.741000	0.42261	3.206000	0.51098	2.288000	0.76882	0.533000	0.62120	TAC		0.572	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		3	61	0	0	0	0.004672	0	3	61				
USH2A	7399	broad.mit.edu	37	1	216270486	216270486	+	Missense_Mutation	SNP	T	T	A	rs376314751		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:216270486T>A	ENST00000307340.3	-	22	5083	c.4697A>T	c.(4696-4698)cAg>cTg	p.Q1566L	USH2A_ENST00000366943.2_Missense_Mutation_p.Q1566L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1566	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATACTCTTCCTGATTGCCAGG	0.368										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(4696-4698)CAG>CTG		usherin isoform B							78.0	74.0	75.0					1																	216270486		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216270486T>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4697A>T	1.37:g.216270486T>A	ENSP00000305941:p.Gln1566Leu	HNSCC(13;0.011)					p.Q1566L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	22	5084	-			1566			Laminin G-like 1.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.4697A>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.266220	0.80358	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78481	-1.18;-1.18	5.89	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.42821	D	0.000649	D	0.86936	0.6053	M	0.83603	2.65	0.50467	D	0.999877	D	0.69078	0.997	D	0.64042	0.921	D	0.86934	0.2075	10	0.46703	T	0.11	.	13.0595	0.59000	0.0:0.0:0.1343:0.8657	.	1566	O75445	USH2A_HUMAN	L	1566	ENSP00000305941:Q1566L;ENSP00000355910:Q1566L	ENSP00000305941:Q1566L	Q	-	2	0	USH2A	214337109	1.000000	0.71417	0.911000	0.35937	0.981000	0.71138	5.896000	0.69822	0.988000	0.38734	0.533000	0.62120	CAG		0.368	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		6	43	0	0	0	0.001984	0	6	43				
GPATCH2	55105	broad.mit.edu	37	1	217604634	217604634	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:217604634C>A	ENST00000366935.3	-	10	1550	c.1440G>T	c.(1438-1440)tgG>tgT	p.W480C		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	480	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		ACCCAGGCGTCCAGCCCATAT	0.463																																							uc001hlf.1		NA																	0				ovary(1)	1						c.(1438-1440)TGG>TGT		G patch domain containing 2							111.0	114.0	113.0					1																	217604634		2203	4300	6503	SO:0001583	missense	55105					intracellular	nucleic acid binding	g.chr1:217604634C>A	AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1440G>T	1.37:g.217604634C>A	ENSP00000355902:p.Trp480Cys						p.W480C	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)	10	1536	-			480			G-patch.		Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	c.1440G>T	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544302	0.86022	.	.	ENSG00000092978	ENST00000366935	T	0.59772	0.24	5.83	5.83	0.93111	D111/G-patch (3);	0.000000	0.85682	D	0.000000	D	0.87474	0.6186	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92237	0.5797	10	0.87932	D	0	-14.6335	20.111	0.97911	0.0:1.0:0.0:0.0	.	480	Q9NW75	GPTC2_HUMAN	C	480	ENSP00000355902:W480C	ENSP00000355902:W480C	W	-	3	0	GPATCH2	215671257	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	6.962000	0.76048	2.747000	0.94245	0.650000	0.86243	TGG		0.463	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040		61	83	1	0	1.22119e-34	0.00361	2.44238e-34	61	83				
HIST3H2A	92815	broad.mit.edu	37	1	228645213	228645213	+	Silent	SNP	G	G	C	rs142593528		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:228645213G>C	ENST00000366695.2	-	1	347	c.306C>G	c.(304-306)acC>acG	p.T102T	HIST3H2BB_ENST00000369160.2_5'Flank	NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	102					nucleosome disassembly (GO:0006337)|UV-damage excision repair (GO:0070914)	extracellular vesicular exosome (GO:0070062)|nuclear nucleosome (GO:0000788)	DNA binding (GO:0003677)			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				CCTGCGCGATGGTCACGCGGC	0.677																																							uc001hsy.2		NA																	0				ovary(1)	1						c.(304-306)ACC>ACG		histone cluster 3, H2a							78.0	72.0	74.0					1																	228645213		2203	4299	6502	SO:0001819	synonymous_variant	92815				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:228645213G>C	AY131974	CCDS1573.1	1q42.13	2011-01-27	2006-10-11		ENSG00000181218	ENSG00000181218		"""Histones / Replication-dependent"""	20507	protein-coding gene	gene with protein product		615015	"""histone 3, H2a"""			12408966	Standard	NM_033445		Approved	MGC3165	uc001hsy.3	Q7L7L0	OTTHUMG00000040046	ENST00000366695.2:c.306C>G	1.37:g.228645213G>C						HIST3H2BB_uc001hsz.2_5'Flank	p.T102T	NM_033445	NP_254280	Q7L7L0	H2A3_HUMAN			1	348	-		Prostate(94;0.183)	102					B2R4S4	Silent	SNP	ENST00000366695.2	37	c.306C>G	CCDS1573.1																																																																																				0.677	HIST3H2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096598.1	NM_033445		24	74	0	0	0	0.00278	0	24	74				
RYR2	6262	broad.mit.edu	37	1	237754280	237754280	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:237754280G>A	ENST00000366574.2	+	31	4465	c.4148G>A	c.(4147-4149)cGt>cAt	p.R1383H	RYR2_ENST00000542537.1_Missense_Mutation_p.R1367H|RYR2_ENST00000360064.6_Missense_Mutation_p.R1381H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1383	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGCCCTCTCGTCTGAAACAA	0.398																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(4147-4149)CGT>CAT		cardiac muscle ryanodine receptor							51.0	48.0	49.0					1																	237754280		1858	4096	5954	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237754280G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4148G>A	1.37:g.237754280G>A	ENSP00000355533:p.Arg1383His						p.R1383H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		31	4268	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1383			Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4148G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	g	15.57	2.873907	0.51695	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96992	-4.2;-4.17;-4.19	5.34	5.34	0.76211	B30.2/SPRY domain (1);	0.100459	0.40469	N	0.001098	D	0.91229	0.7236	N	0.08118	0	0.80722	D	1	B	0.13145	0.007	B	0.04013	0.001	D	0.86499	0.1802	10	0.59425	D	0.04	.	17.7618	0.88466	0.0:0.0:1.0:0.0	.	1383	Q92736	RYR2_HUMAN	H	1383;1381;1367	ENSP00000355533:R1383H;ENSP00000353174:R1381H;ENSP00000443798:R1367H	ENSP00000353174:R1381H	R	+	2	0	RYR2	235820903	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.283000	0.72646	2.937000	0.99478	0.650000	0.86243	CGT		0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		10	26	0	0	0	0.008291	0	10	26				
NLRP3	114548	broad.mit.edu	37	1	247611773	247611773	+	Silent	SNP	T	T	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:247611773T>C	ENST00000336119.3	+	9	3824	c.3078T>C	c.(3076-3078)ccT>ccC	p.P1026P	NLRP3_ENST00000391828.3_Silent_p.P1026P|NLRP3_ENST00000391827.2_Silent_p.P969P|NLRP3_ENST00000366497.2_Silent_p.P969P|NLRP3_ENST00000348069.2_Silent_p.P912P|NLRP3_ENST00000366496.2_Silent_p.P969P	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	1026					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AAGAAAAGCCTGAGCTGACCG	0.502																																							uc001icr.2		NA																	0				lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(3076-3078)CCT>CCC		NLR family, pyrin domain containing 3 isoform a							101.0	101.0	101.0					1																	247611773		2203	4300	6503	SO:0001819	synonymous_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247611773T>C	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.3078T>C	1.37:g.247611773T>C						NLRP3_uc001ics.2_Silent_p.P969P|NLRP3_uc001icu.2_Silent_p.P1026P|NLRP3_uc001icw.2_Silent_p.P969P|NLRP3_uc001icv.2_Silent_p.P912P|NLRP3_uc010pyw.1_Silent_p.P1004P	p.P1026P	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		11	3216	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	1026					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	c.3078T>C	CCDS1632.1																																																																																				0.502	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		22	30	0	0	0	0.00278	0	22	30				
OR2W3	343171	broad.mit.edu	37	1	248059177	248059177	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:248059177T>A	ENST00000360358.3	+	1	289	c.289T>A	c.(289-291)Tgt>Agt	p.C97S	OR2W3_ENST00000537741.1_Missense_Mutation_p.C97S	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTACATGGGCTGTGCCATCCA	0.572																																							uc001idp.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(289-291)TGT>AGT		olfactory receptor, family 2, subfamily W,							154.0	121.0	132.0					1																	248059177		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059177T>A	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.289T>A	1.37:g.248059177T>A	ENSP00000353516:p.Cys97Ser					OR2W3_uc010pzb.1_Missense_Mutation_p.C97S	p.C97S	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	558	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		97			Extracellular (Potential).		Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.289T>A	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.940096	0.73557	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00540	6.7;6.7	5.28	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.05686	0.0149	H	0.99884	4.89	0.45718	D	0.998625	D	0.71674	0.998	D	0.68943	0.961	T	0.00785	-1.1567	10	0.87932	D	0	.	10.6974	0.45907	0.0:0.0752:0.0:0.9248	.	97	Q7Z3T1	OR2W3_HUMAN	S	97	ENSP00000445853:C97S;ENSP00000353516:C97S	ENSP00000353516:C97S	C	+	1	0	OR2W3	246125800	1.000000	0.71417	0.951000	0.38953	0.773000	0.43773	7.168000	0.77570	1.035000	0.39972	0.491000	0.48974	TGT		0.572	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		30	78	0	0	0	0.002445	0	30	78				
OR2L3	391192	broad.mit.edu	37	1	248224272	248224272	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:248224272G>T	ENST00000359959.3	+	1	289	c.289G>T	c.(289-291)Ggg>Tgg	p.G97W	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CACTGGGTGTGGGATTCAGAG	0.433																																							uc001idx.1		NA																	0					0						c.(289-291)GGG>TGG		olfactory receptor, family 2, subfamily L,							229.0	248.0	242.0					1																	248224272		2203	4300	6503	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224272G>T	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.289G>T	1.37:g.248224272G>T	ENSP00000353044:p.Gly97Trp					OR2L13_uc001ids.2_Intron	p.G97W	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	289	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		97			Extracellular (Potential).		B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.289G>T	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	12.01	1.809405	0.31961	.	.	ENSG00000198128	ENST00000359959	T	0.00397	7.57	2.05	2.05	0.26809	GPCR, rhodopsin-like superfamily (1);	0.260464	0.19976	U	0.101863	T	0.00580	0.0019	L	0.56396	1.775	0.28123	N	0.930525	D	0.69078	0.997	D	0.75484	0.986	T	0.48822	-0.9001	10	0.87932	D	0	.	4.4071	0.11414	0.1447:0.2373:0.618:0.0	.	97	Q8NG85	OR2L3_HUMAN	W	97	ENSP00000353044:G97W	ENSP00000353044:G97W	G	+	1	0	OR2L3	246290895	0.000000	0.05858	0.127000	0.21898	0.100000	0.18952	-0.579000	0.05834	1.124000	0.41980	0.462000	0.41574	GGG		0.433	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		71	168	1	0	1.05635e-38	0.00361	2.13131e-38	71	168				
OR2L13	284521	broad.mit.edu	37	1	248263215	248263215	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:248263215G>T	ENST00000358120.2	+	2	683	c.538G>T	c.(538-540)Gtc>Ttc	p.V180F	OR2L13_ENST00000366478.2_Missense_Mutation_p.V180F			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CTTCTGCGATGTCCCAGCCAT	0.458																																							uc001ids.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(538-540)GTC>TTC		olfactory receptor, family 2, subfamily L,							271.0	239.0	250.0					1																	248263215		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263215G>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.538G>T	1.37:g.248263215G>T	ENSP00000350836:p.Val180Phe						p.V180F	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	875	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		180			Extracellular (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.538G>T	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512230	0.27036	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.36878	1.23;1.23	4.21	2.14	0.27477	GPCR, rhodopsin-like superfamily (1);	0.158190	0.29660	N	0.011529	T	0.43010	0.1228	L	0.58510	1.815	0.09310	N	1	P	0.52577	0.954	P	0.57620	0.824	T	0.14727	-1.0462	10	0.49607	T	0.09	.	4.6055	0.12376	0.4402:0.0:0.5598:0.0	.	180	Q8N349	OR2LD_HUMAN	F	180	ENSP00000355434:V180F;ENSP00000350836:V180F	ENSP00000350836:V180F	V	+	1	0	OR2L13	246329838	0.000000	0.05858	0.999000	0.59377	0.972000	0.66771	-2.573000	0.00912	0.949000	0.37715	0.650000	0.86243	GTC		0.458	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		58	125	1	0	8.4772e-36	0.00361	1.70288e-35	58	125				
OR2T4	127074	broad.mit.edu	37	1	248524987	248524987	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:248524987G>T	ENST00000366475.1	+	1	105	c.105G>T	c.(103-105)atG>atT	p.M35I		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCACCTGGATGGCCAACCACA	0.478																																							uc001ieh.1		NA																	0				central_nervous_system(1)	1						c.(103-105)ATG>ATT		olfactory receptor, family 2, subfamily T,							121.0	104.0	110.0					1																	248524987		2202	4268	6470	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248524987G>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.105G>T	1.37:g.248524987G>T	ENSP00000355431:p.Met35Ile						p.M35I	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	105	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		35			Extracellular (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.105G>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	4.080	0.012813	0.07912	.	.	ENSG00000196944	ENST00000366475	T	0.00452	7.34	1.17	-0.0202	0.13957	.	1.083300	0.07311	N	0.875842	T	0.00300	0.0009	L	0.35542	1.07	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.40831	-0.9542	10	0.66056	D	0.02	.	4.4813	0.11767	0.2755:0.0:0.7245:0.0	.	35	Q8NH00	OR2T4_HUMAN	I	35	ENSP00000355431:M35I	ENSP00000355431:M35I	M	+	3	0	OR2T4	246591610	0.018000	0.18449	0.011000	0.14972	0.012000	0.07955	0.011000	0.13264	-0.414000	0.07495	-0.708000	0.03648	ATG		0.478	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		32	51	1	0	4.74835e-14	0.002096	8.23768e-14	32	51				
OR2T1	26696	broad.mit.edu	37	1	248569881	248569881	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr1:248569881G>A	ENST00000366474.1	+	1	586	c.586G>A	c.(586-588)Gca>Aca	p.A196T		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGATTATAGCAGGTTCCTG	0.542																																							uc010pzm.1		NA																	0				pancreas(1)	1						c.(586-588)GCA>ACA		olfactory receptor, family 2, subfamily T,							96.0	94.0	95.0					1																	248569881		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569881G>A	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.586G>A	1.37:g.248569881G>A	ENSP00000355430:p.Ala196Thr						p.A196T	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	586	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		196			Helical; Name=4; (Potential).		Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.586G>A	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	g	14.25	2.480006	0.44044	.	.	ENSG00000175143	ENST00000366474	T	0.39997	1.05	4.84	1.78	0.24846	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36591	U	0.002510	T	0.31358	0.0794	L	0.33093	0.98	0.09310	N	1	B	0.32324	0.364	B	0.39590	0.304	T	0.15122	-1.0448	10	0.35671	T	0.21	.	6.1209	0.20151	0.1767:0.1544:0.6689:0.0	.	196	O43869	OR2T1_HUMAN	T	196	ENSP00000355430:A196T	ENSP00000355430:A196T	A	+	1	0	OR2T1	246636504	0.000000	0.05858	0.004000	0.12327	0.993000	0.82548	0.609000	0.24238	0.590000	0.29694	0.650000	0.86243	GCA		0.542	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			19	62	0	0	0	0.007413	0	19	62				
AKR1C1	1645	broad.mit.edu	37	10	5014794	5014794	+	Silent	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr10:5014794G>T	ENST00000380872.4	+	7	891	c.699G>T	c.(697-699)ccG>ccT	p.P233P	AKR1C1_ENST00000434459.2_Silent_p.P233P|AKR1C1_ENST00000477661.1_3'UTR	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	233					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	CGAACTCCCCGGTGCTCTTGG	0.592																																					Colon(130;2054 2316 13360 15380)	Colon(130;2054 2316 13360 15380)	uc001iho.2		NA																	0				ovary(2)	2						c.(697-699)CCG>CCT		aldo-keto reductase family 1, member C1	NADH(DB00157)						52.0	63.0	59.0					10																	5014794		2199	4287	6486	SO:0001819	synonymous_variant	1645				bile acid and bile salt transport|bile acid metabolic process|cholesterol homeostasis|intestinal cholesterol absorption|protein homooligomerization|response to organophosphorus|xenobiotic metabolic process	cytosol	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid binding|indanol dehydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr10:5014794G>T	D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"""Aldo-keto reductases"""	384	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"""	600449	"""aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"""	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.699G>T	10.37:g.5014794G>T						AKR1E2_uc001ihl.1_Intron|AKR1C2_uc010qan.1_Intron|AKR1C3_uc001ihr.2_Intron|AKR1C1_uc001ihq.2_Silent_p.P233P	p.P233P	NM_001353	NP_001344	Q04828	AK1C1_HUMAN			12	1540	+			233			NADP (By similarity).		P52896|Q5SR15|Q7M4N2|Q9UCX2	Silent	SNP	ENST00000380872.4	37	c.699G>T	CCDS7061.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.384812	0.01194	.	.	ENSG00000187134	ENST00000442997	.	.	.	1.97	-3.94	0.04130	.	.	.	.	.	T	0.17066	0.0410	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.09596	-1.0667	4	.	.	.	.	0.0739	0.00025	0.3189:0.2234:0.2052:0.2525	.	.	.	.	L	200	.	.	R	+	2	0	AKR1C1	5004794	0.000000	0.05858	0.003000	0.11579	0.206000	0.24218	-4.413000	0.00238	-3.232000	0.00209	0.305000	0.20034	CGG		0.592	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046523.2	NM_001353		22	100	1	0	1.39806e-14	0.008361	2.46273e-14	22	100				
ITIH5	80760	broad.mit.edu	37	10	7679399	7679399	+	Silent	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr10:7679399G>T	ENST00000256861.6	-	5	522	c.444C>A	c.(442-444)ccC>ccA	p.P148P	ITIH5_ENST00000397145.2_Silent_p.P148P|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.P148P	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	148	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGTCCTTGCTGGGAATCACTG	0.547																																							uc001ijq.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(442-444)CCC>CCA		inter-alpha trypsin inhibitor heavy chain							66.0	73.0	70.0					10																	7679399		2203	4300	6503	SO:0001819	synonymous_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7679399G>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.444C>A	10.37:g.7679399G>T						ITIH5_uc001ijr.1_Silent_p.P148P	p.P148P	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			5	523	-			148			VIT.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37	c.444C>A																																																																																					0.547	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		10	52	1	0	1.33987e-11	0.008291	2.19165e-11	10	52				
ITGA8	8516	broad.mit.edu	37	10	15655678	15655678	+	Missense_Mutation	SNP	A	A	G	rs139049697		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr10:15655678A>G	ENST00000378076.3	-	15	1887	c.1534T>C	c.(1534-1536)Tct>Cct	p.S512P		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	512					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GATGTCATAGAGTCTGGAACC	0.453													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19294	0.0		0.0	False		,,,				2504	0.0						uc001ioc.1		NA																	0				ovary(3)|lung(3)	6						c.(1534-1536)TCT>CCT		integrin, alpha 8 precursor		A	PRO/SER	1,4405	2.1+/-5.4	0,1,2202	144.0	150.0	148.0		1534	-2.2	0.0	10	dbSNP_134	148	9,8591	7.1+/-27.0	0,9,4291	yes	missense	ITGA8	NM_003638.1	74	0,10,6493	GG,GA,AA		0.1047,0.0227,0.0769	possibly-damaging	512/1064	15655678	10,12996	2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15655678A>G	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1534T>C	10.37:g.15655678A>G	ENSP00000367316:p.Ser512Pro					ITGA8_uc010qcb.1_Missense_Mutation_p.S497P	p.S512P	NM_003638	NP_003629	P53708	ITA8_HUMAN			15	1534	-			512			Extracellular (Potential).		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1534T>C	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.278479	0.40294	2.27E-4	0.001047	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.44083	0.93	5.38	-2.25	0.06888	Integrin alpha-2 (1);	0.386074	0.31989	N	0.006746	T	0.40171	0.1106	M	0.63843	1.955	0.09310	N	1	P;P	0.44006	0.789;0.824	P;P	0.48738	0.452;0.588	T	0.42224	-0.9464	10	0.19147	T	0.46	.	8.526	0.33304	0.4635:0.4246:0.1119:0.0	.	497;512	F5H818;P53708	.;ITA8_HUMAN	P	512;497	ENSP00000367316:S512P	ENSP00000367316:S512P	S	-	1	0	ITGA8	15695684	0.000000	0.05858	0.002000	0.10522	0.050000	0.14768	0.732000	0.26072	-0.254000	0.09500	-0.687000	0.03738	TCT		0.453	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		4	134	0	0	0	0.000248	0	4	134				
NEBL	10529	broad.mit.edu	37	10	21115394	21115394	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr10:21115394A>C	ENST00000377122.4	-	18	2247	c.1851T>G	c.(1849-1851)aaT>aaG	p.N617K	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	617					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TATTCTGCTGATTTTTCTTCA	0.323																																							uc001iqi.2		NA																	0				ovary(2)	2						c.(1849-1851)AAT>AAG		nebulette sarcomeric isoform							160.0	175.0	170.0					10																	21115394		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21115394A>C	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1851T>G	10.37:g.21115394A>C	ENSP00000366326:p.Asn617Lys					NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	p.N617K	NM_006393	NP_006384	O76041	NEBL_HUMAN			18	2248	-			617			Nebulin 17.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.1851T>G	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.118092	0.56505	.	.	ENSG00000078114	ENST00000377122	T	0.57107	0.42	6.06	0.538	0.17150	.	0.113779	0.56097	D	0.000025	T	0.64538	0.2607	M	0.91406	3.205	0.80722	D	1	D	0.59767	0.986	P	0.59643	0.861	T	0.69339	-0.5171	10	0.07813	T	0.8	.	5.9603	0.19295	0.5389:0.1313:0.3298:0.0	.	617	O76041	NEBL_HUMAN	K	617	ENSP00000366326:N617K	ENSP00000366326:N617K	N	-	3	2	NEBL	21155400	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	2.228000	0.42981	-0.136000	0.11475	-0.256000	0.11100	AAT		0.323	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		8	90	0	0	0	0.006214	0	8	90				
ZNF488	118738	broad.mit.edu	37	10	48371133	48371133	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr10:48371133C>A	ENST00000395702.2	+	2	828	c.601C>A	c.(601-603)Ctc>Atc	p.L201I	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Missense_Mutation_p.L94I			Q96MN9	ZN488_HUMAN	zinc finger protein 488	201					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CACTACAGACCTCGCTTGTTG	0.532																																							uc001jex.2		NA																	0				ovary(1)	1						c.(601-603)CTC>ATC		zinc finger protein 488							125.0	117.0	120.0					10																	48371133		2203	4300	6503	SO:0001583	missense	118738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:48371133C>A	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.601C>A	10.37:g.48371133C>A	ENSP00000379054:p.Leu201Ile					ZNF488_uc001jey.2_Missense_Mutation_p.L94I	p.L201I	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN			2	763	+			201					Q05CE0	Missense_Mutation	SNP	ENST00000395702.2	37	c.601C>A	CCDS7217.1	.	.	.	.	.	.	.	.	.	.	C	6.651	0.488608	0.12641	.	.	ENSG00000165388	ENST00000395702	T	0.23950	1.88	5.35	-10.7	0.00240	.	2.045250	0.02290	N	0.070224	T	0.05318	0.0141	N	0.01048	-1.04	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.14587	-1.0467	10	0.06494	T	0.89	.	4.0736	0.09894	0.4052:0.3224:0.1963:0.076	.	201	Q96MN9	ZN488_HUMAN	I	201	ENSP00000379054:L201I	ENSP00000379054:L201I	L	+	1	0	ZNF488	47991139	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.432000	0.02430	-2.253000	0.00698	-0.397000	0.06425	CTC		0.532	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		20	44	1	0	0.00229938	0.002299	0.00280084	20	44				
GDF10	2662	broad.mit.edu	37	10	48428987	48428987	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr10:48428987T>A	ENST00000224605.2	-	2	1164	c.899A>T	c.(898-900)gAc>gTc	p.D300V		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	300					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CAGCTCGTTGTCCTGGAGGGG	0.741																																							uc001jfb.2		NA																	0				lung(1)|central_nervous_system(1)	2						c.(898-900)GAC>GTC		growth differentiation factor 10 precursor							8.0	10.0	9.0					10																	48428987		2170	4227	6397	SO:0001583	missense	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48428987T>A	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.899A>T	10.37:g.48428987T>A	ENSP00000224605:p.Asp300Val					GDF10_uc009xnp.2_Missense_Mutation_p.D299V|GDF10_uc009xnq.1_Missense_Mutation_p.D300V	p.D300V	NM_004962	NP_004953	P55107	BMP3B_HUMAN			2	1355	-			300					Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	c.899A>T	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.519741	0.64634	.	.	ENSG00000107623	ENST00000374247;ENST00000224605	T	0.76709	-1.04	5.6	5.6	0.85130	.	0.296274	0.41500	D	0.000865	T	0.75686	0.3883	L	0.50333	1.59	0.80722	D	1	B;P	0.40398	0.181;0.716	B;B	0.41894	0.05;0.369	T	0.77216	-0.2669	10	0.49607	T	0.09	.	14.9577	0.71131	0.0:0.0:0.0:1.0	.	110;300	Q8N6T2;P55107	.;BMP3B_HUMAN	V	110;300	ENSP00000224605:D300V	ENSP00000224605:D300V	D	-	2	0	GDF10	48048993	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.226000	0.58606	2.143000	0.66587	0.459000	0.35465	GAC		0.741	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		6	9	0	0	0	0.001984	0	6	9				
LRRC18	474354	broad.mit.edu	37	10	50121487	50121487	+	Silent	SNP	G	G	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr10:50121487G>C	ENST00000374160.3	-	1	790	c.714C>G	c.(712-714)ccC>ccG	p.P238P	WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Silent_p.P238P|RP11-523O18.7_ENST00000430438.1_RNA	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	238						cytoplasm (GO:0005737)				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AGATCAGATTGGGAAAGATGG	0.527																																							uc001jhd.2		NA																	0				ovary(1)|pancreas(1)	2						c.(712-714)CCC>CCG		leucine rich repeat containing 18							202.0	204.0	203.0					10																	50121487		2203	4300	6503	SO:0001819	synonymous_variant	474354					cytoplasm		g.chr10:50121487G>C	AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.714C>G	10.37:g.50121487G>C						WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Silent_p.P238P	p.P238P	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN			1	794	-			238					Q6UY02	Silent	SNP	ENST00000374160.3	37	c.714C>G	CCDS31197.1																																																																																				0.527	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047964.1	NM_001006939		51	97	0	0	0	0.00361	0	51	97				
ZWINT	11130	broad.mit.edu	37	10	58119454	58119454	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr10:58119454C>A	ENST00000373944.3	-	4	455	c.417G>T	c.(415-417)caG>caT	p.Q139H	ZWINT_ENST00000395405.1_Missense_Mutation_p.Q139H|ZWINT_ENST00000361148.6_Missense_Mutation_p.Q139H|ZWINT_ENST00000318387.2_Missense_Mutation_p.Q19H|ZWINT_ENST00000460654.1_5'UTR			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	139	Interaction with NDC80 and ZW10.				establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GTACCTTGGCCTGGAGCTGCT	0.552																																							uc001jjx.1		NA																	0					0						c.(415-417)CAG>CAT		ZW10 interactor isoform a							147.0	147.0	147.0					10																	58119454		2203	4300	6503	SO:0001583	missense	11130				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	g.chr10:58119454C>A	AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"""ZW10 interactor"""				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.417G>T	10.37:g.58119454C>A	ENSP00000363055:p.Gln139His					ZWINT_uc001jjy.1_Missense_Mutation_p.Q139H|ZWINT_uc001jka.1_Missense_Mutation_p.Q139H|ZWINT_uc009xoy.1_RNA	p.Q139H	NM_007057	NP_008988	O95229	ZWINT_HUMAN			4	454	-			139			Interaction with NDC80 and ZW10.|Potential.		A6NNV6|Q0D2I3|Q9BWD0	Missense_Mutation	SNP	ENST00000373944.3	37	c.417G>T	CCDS7249.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640750	0.29157	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000318387;ENST00000361148	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	4.8	2.94	0.34122	.	0.469577	0.18274	N	0.146222	T	0.59418	0.2192	L	0.60455	1.87	0.24481	N	0.994343	D;D	0.89917	1.0;1.0	D;D	0.70935	0.971;0.971	T	0.48456	-0.9034	10	0.87932	D	0	-9.1594	7.6747	0.28478	0.0:0.8074:0.0:0.1926	.	139;139	A6NNV6;O95229	.;ZWINT_HUMAN	H	139;139;19;139	ENSP00000363055:Q139H;ENSP00000378801:Q139H;ENSP00000322850:Q19H;ENSP00000354921:Q139H	ENSP00000322850:Q19H	Q	-	3	2	ZWINT	57789460	0.998000	0.40836	0.997000	0.53966	0.221000	0.24807	1.399000	0.34566	0.759000	0.33084	0.650000	0.86243	CAG		0.552	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1			20	212	1	0	4.30721e-22	0.001523	8.32363e-22	20	212				
ANK3	288	broad.mit.edu	37	10	61830089	61830089	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr10:61830089T>A	ENST00000280772.2	-	37	10741	c.10550A>T	c.(10549-10551)gAt>gTt	p.D3517V	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3517					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.D3517V(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAAGTAAGTATCAGGAAACAC	0.423																																							uc001jky.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(10549-10551)GAT>GTT		ankyrin 3 isoform 1							88.0	88.0	88.0					10																	61830089		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61830089T>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10550A>T	10.37:g.61830089T>A	ENSP00000280772:p.Asp3517Val					ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.D3517V	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	10742	-			3517					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.10550A>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.623461	0.66901	.	.	ENSG00000151150	ENST00000280772	T	0.36157	1.27	5.77	5.77	0.91146	.	0.000000	0.43579	D	0.000558	T	0.44871	0.1314	L	0.46157	1.445	0.80722	D	1	D	0.60575	0.988	P	0.51657	0.676	T	0.35943	-0.9768	10	0.51188	T	0.08	.	16.0879	0.81070	0.0:0.0:0.0:1.0	.	3517	Q12955	ANK3_HUMAN	V	3517	ENSP00000280772:D3517V	ENSP00000280772:D3517V	D	-	2	0	ANK3	61500095	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.199000	0.70637	0.533000	0.62120	GAT		0.423	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		19	48	0	0	0	0.008871	0	19	48				
JMJD1C	221037	broad.mit.edu	37	10	64958312	64958312	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr10:64958312T>A	ENST00000399262.2	-	12	5670	c.5452A>T	c.(5452-5454)Aca>Tca	p.T1818S	JMJD1C_ENST00000542921.1_Missense_Mutation_p.T1636S|JMJD1C_ENST00000402544.1_Missense_Mutation_p.T1599S|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1818					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTTCAGATGTTACTAATTGA	0.299																																							uc001jmn.2		NA																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(5452-5454)ACA>TCA		jumonji domain containing 1C isoform a							138.0	138.0	138.0					10																	64958312		1822	4070	5892	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64958312T>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5452A>T	10.37:g.64958312T>A	ENSP00000382204:p.Thr1818Ser					JMJD1C_uc001jml.2_Missense_Mutation_p.T1599S|JMJD1C_uc001jmm.2_Missense_Mutation_p.T1530S|JMJD1C_uc010qiq.1_Missense_Mutation_p.T1636S|JMJD1C_uc009xpi.2_Missense_Mutation_p.T1636S|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Intron	p.T1818S	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			12	5752	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1818					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.5452A>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.797635	0.70567	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	T;T;T	0.53640	0.96;0.61;0.96	5.17	5.17	0.71159	.	0.100035	0.64402	D	0.000001	T	0.46521	0.1397	L	0.60455	1.87	0.80722	D	1	P;P	0.45531	0.86;0.602	B;B	0.40901	0.243;0.343	T	0.48364	-0.9042	10	0.39692	T	0.17	-15.9104	15.2997	0.73936	0.0:0.0:0.0:1.0	.	1818;1636	Q15652;A0T124	JHD2C_HUMAN;.	S	1818;1599;1636	ENSP00000382204:T1818S;ENSP00000384990:T1599S;ENSP00000444682:T1636S	ENSP00000382204:T1818S	T	-	1	0	JMJD1C	64628318	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.522000	0.45572	2.073000	0.62155	0.397000	0.26171	ACA		0.299	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		42	74	0	0	0	0.002522	0	42	74				
SLC35G1	159371	broad.mit.edu	37	10	95661084	95661084	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr10:95661084G>T	ENST00000427197.1	+	3	996	c.935G>T	c.(934-936)gGg>gTg	p.G312V	SLC35G1_ENST00000371408.3_Missense_Mutation_p.G311V	NM_001134658.1|NM_153226.2	NP_001128130.1|NP_694958.1	Q2M3R5	S35G1_HUMAN	solute carrier family 35, member G1	312	EamA 2.				calcium ion export from cell (GO:1990034)|cytosolic calcium ion homeostasis (GO:0051480)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GAAAAAGCAGGGCCAGTAGCA	0.408																																							uc001kjg.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(934-936)GGG>GTG		transmembrane protein 20 isoform 1							92.0	94.0	94.0					10																	95661084		2203	4300	6503	SO:0001583	missense	159371					integral to membrane		g.chr10:95661084G>T	AK091309	CCDS7432.1, CCDS44459.1	10q23.33	2013-05-22	2011-08-03	2011-08-03	ENSG00000176273	ENSG00000176273		"""Solute carriers"""	26607	protein-coding gene	gene with protein product			"""transmembrane protein 20"""	TMEM20		21569384	Standard	NM_153226		Approved	FLJ33990, C10orf60	uc001kjg.2	Q2M3R5	OTTHUMG00000018779	ENST00000427197.1:c.935G>T	10.37:g.95661084G>T	ENSP00000400932:p.Gly312Val					TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Missense_Mutation_p.G311V|TMEM20_uc001kjh.2_Intron|TMEM20_uc010qnw.1_Missense_Mutation_p.G295V|TMEM20_uc001kjj.2_Intron	p.G312V	NM_001134658	NP_001128130	Q2M3R5	TMM20_HUMAN		STAD - Stomach adenocarcinoma(243;0.00345)	3	996	+		Colorectal(252;3.46e-05)|Renal(717;0.018)|Ovarian(717;0.0228)|all_hematologic(284;0.189)	312			Helical; (Potential).|DUF6 2.		Q86YG5|Q8NBA5	Missense_Mutation	SNP	ENST00000427197.1	37	c.935G>T	CCDS44459.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041800	0.75732	.	.	ENSG00000176273	ENST00000371408;ENST00000427197	T;T	0.71579	-0.58;-0.58	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.83248	0.5213	M	0.76002	2.32	0.80722	D	1	P;P;P	0.49696	0.872;0.927;0.851	P;P;P	0.58620	0.781;0.842;0.623	T	0.82768	-0.0294	10	0.59425	D	0.04	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	295;312;311	B7ZKP0;Q2M3R5;Q2M3R5-2	.;S35G1_HUMAN;.	V	311;312	ENSP00000360462:G311V;ENSP00000400932:G312V	ENSP00000360462:G311V	G	+	2	0	SLC35G1	95651074	1.000000	0.71417	0.986000	0.45419	0.675000	0.39556	9.330000	0.96422	2.879000	0.98667	0.650000	0.86243	GGG		0.408	SLC35G1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_153226		14	32	1	0	0.00185496	0.001855	0.00228995	14	32				
PLCE1	51196	broad.mit.edu	37	10	96068457	96068457	+	Splice_Site	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr10:96068457G>T	ENST00000371380.3	+	26	6238		c.e26+1		PLCE1_ENST00000260766.3_Splice_Site|PLCE1_ENST00000371375.1_Splice_Site|PLCE1_ENST00000371385.3_Splice_Site			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGCCTCTTCGGTAATGAAGTT	0.408																																							uc001kjk.2		NA																	0				ovary(2)|skin(1)	3						c.e27+1		phospholipase C, epsilon 1 isoform 1							120.0	110.0	113.0					10																	96068457		1854	4103	5957	SO:0001630	splice_region_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96068457G>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.6003+1G>T	10.37:g.96068457G>T						PLCE1_uc010qnx.1_Splice_Site_p.S1985_splice|PLCE1_uc001kjm.2_Splice_Site_p.S1693_splice|PLCE1_uc001kjp.2_Splice_Site_p.S359_splice	p.S2001_splice	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			27	6637	+		Colorectal(252;0.0458)						A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Splice_Site	SNP	ENST00000371380.3	37	c.6003_splice	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355988	0.82243	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9492	0.92635	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLCE1	96058447	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	8.630000	0.90987	2.646000	0.89796	0.561000	0.74099	.		0.408	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341	Intron	20	64	1	0	3.8784e-16	0.001882	6.99334e-16	20	64				
ENTPD1	953	broad.mit.edu	37	10	97626107	97626107	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr10:97626107C>A	ENST00000371205.4	+	10	1783	c.1500C>A	c.(1498-1500)caC>caA	p.H500Q	ENTPD1_ENST00000371203.5_Missense_Mutation_p.H362Q|ENTPD1_ENST00000539125.1_Missense_Mutation_p.H362Q|ENTPD1_ENST00000453258.2_Missense_Mutation_p.H507Q|ENTPD1_ENST00000543964.1_Missense_Mutation_p.H392Q|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371207.3_Missense_Mutation_p.H512Q|RP11-248J23.7_ENST00000491114.1_Intron|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	500					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TTATCTTTCACAAGCCTTCAT	0.453																																							uc001klh.3		NA																	0				ovary(3)	3						c.(1498-1500)CAC>CAA		ectonucleoside triphosphate diphosphohydrolase 1							141.0	130.0	134.0					10																	97626107		2203	4300	6503	SO:0001583	missense	953				cell adhesion	integral to plasma membrane	ATP binding	g.chr10:97626107C>A	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.1500C>A	10.37:g.97626107C>A	ENSP00000360248:p.His500Gln					ENTPD1_uc001kli.3_Missense_Mutation_p.H507Q|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Missense_Mutation_p.H512Q|ENTPD1_uc010qok.1_Missense_Mutation_p.H392Q|ENTPD1_uc010qol.1_Missense_Mutation_p.H392Q|ENTPD1_uc010qom.1_Missense_Mutation_p.H459Q|ENTPD1_uc010qon.1_Missense_Mutation_p.H362Q|ENTPD1_uc009xva.2_Missense_Mutation_p.H362Q|ENTPD1_uc009xuz.2_RNA	p.H500Q	NM_001776	NP_001767	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	10	1824	+		Colorectal(252;0.0821)	500			Cytoplasmic (Potential).		A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Missense_Mutation	SNP	ENST00000371205.4	37	c.1500C>A	CCDS7444.1	.	.	.	.	.	.	.	.	.	.	C	5.267	0.234626	0.09969	.	.	ENSG00000138185	ENST00000453258;ENST00000371207;ENST00000543964;ENST00000539125;ENST00000371203;ENST00000371205	T;T;T;T;T;T	0.10005	2.92;2.92;3.6;3.34;3.34;2.92	6.01	-4.38	0.03622	.	1.132980	0.06626	N	0.758283	T	0.03434	0.0099	N	0.08118	0	0.37482	D	0.916047	P;P;P;P	0.38767	0.454;0.589;0.646;0.454	B;B;B;B	0.33295	0.057;0.122;0.161;0.057	T	0.47774	-0.9091	10	0.33141	T	0.24	-2.8224	0.5097	0.00593	0.3192:0.1662:0.284:0.2306	.	512;512;507;500	B4DWB9;G3XAF6;P49961-2;P49961	.;.;.;ENTP1_HUMAN	Q	507;512;392;362;362;500	ENSP00000390955:H507Q;ENSP00000360250:H512Q;ENSP00000442968:H392Q;ENSP00000440027:H362Q;ENSP00000360246:H362Q;ENSP00000360248:H500Q	ENSP00000360246:H362Q	H	+	3	2	ENTPD1	97616097	0.001000	0.12720	0.312000	0.25196	0.037000	0.13140	-0.590000	0.05760	-0.392000	0.07751	-0.345000	0.07892	CAC		0.453	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		19	37	1	0	0.00188189	0.001882	0.00231695	19	37				
TM9SF3	56889	broad.mit.edu	37	10	98311156	98311156	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr10:98311156C>A	ENST00000371142.4	-	7	1021	c.805G>T	c.(805-807)Gga>Tga	p.G269*	TM9SF3_ENST00000490192.1_5'UTR	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	269						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TATTCATCTCCTAGGTCTCTA	0.328																																							uc001kmm.3		NA																	0					0						c.(805-807)GGA>TGA		transmembrane 9 superfamily member 3 precursor							116.0	112.0	113.0					10																	98311156		2203	4300	6503	SO:0001587	stop_gained	56889					integral to membrane	binding	g.chr10:98311156C>A	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.805G>T	10.37:g.98311156C>A	ENSP00000360184:p.Gly269*					TM9SF3_uc010qot.1_Nonsense_Mutation_p.G269*|TM9SF3_uc001kmn.1_Nonsense_Mutation_p.G38*	p.G269*	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	7	1022	-		Colorectal(252;0.158)	269					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Nonsense_Mutation	SNP	ENST00000371142.4	37	c.805G>T	CCDS7450.1	.	.	.	.	.	.	.	.	.	.	C	38	7.028689	0.98013	.	.	ENSG00000077147	ENST00000371142;ENST00000443638	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-10.6053	17.5755	0.87947	0.0:1.0:0.0:0.0	.	.	.	.	X	269;225	.	ENSP00000360184:G269X	G	-	1	0	TM9SF3	98301146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.594000	0.82698	2.408000	0.81797	0.650000	0.86243	GGA		0.328	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		16	36	1	0	1.15088e-07	0.004007	1.68403e-07	16	36				
SCD	6319	broad.mit.edu	37	10	102107276	102107276	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr10:102107276G>T	ENST00000370355.2	+	1	396	c.15G>T	c.(13-15)ttG>ttT	p.L5F	RP11-34D15.2_ENST00000429420.1_RNA	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	5				L -> M (in Ref. 11; AAB30631). {ECO:0000305}.	fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		CGGCCCACTTGCTGCAGGACG	0.682																																					Colon(67;260 1459 9574 11663)	Colon(67;260 1459 9574 11663)	uc001kqy.2		NA																	0					0						c.(13-15)TTG>TTT		stearoyl-CoA desaturase 1							32.0	33.0	32.0					10																	102107276		2203	4300	6503	SO:0001583	missense	6319				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr10:102107276G>T	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"""Fatty acid desaturases"""	10571	protein-coding gene	gene with protein product	"""acyl-CoA desaturase"", ""fatty acid desaturase"", ""delta-9-desaturase"""	604031	"""stearoyl-CoA desaturase opposite strand"""	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.15G>T	10.37:g.102107276G>T	ENSP00000359380:p.Leu5Phe						p.L5F	NM_005063	NP_005054	O00767	ACOD_HUMAN		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)	1	505	+		Colorectal(252;0.0323)	5	L -> M (in Ref. 11; AAB30631).		Cytoplasmic (Potential).		B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	Missense_Mutation	SNP	ENST00000370355.2	37	c.15G>T	CCDS7493.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964868	0.74131	.	.	ENSG00000099194	ENST00000423840;ENST00000370355	T	0.51574	0.7	4.81	3.89	0.44902	.	0.378370	0.22920	N	0.054028	T	0.38558	0.1045	L	0.55103	1.725	0.30408	N	0.779383	P	0.44776	0.843	B	0.37091	0.241	T	0.50849	-0.8779	10	0.66056	D	0.02	-10.6573	8.295	0.31980	0.11:0.0:0.89:0.0	.	5	O00767	ACOD_HUMAN	F	5	ENSP00000359380:L5F	ENSP00000359380:L5F	L	+	3	2	SCD	102097266	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	1.129000	0.31381	1.360000	0.45960	0.561000	0.74099	TTG		0.682	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		12	35	1	0	2.31682e-05	0.003163	3.04915e-05	12	35				
ATRNL1	26033	broad.mit.edu	37	10	116919973	116919973	+	Silent	SNP	A	A	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr10:116919973A>C	ENST00000355044.3	+	6	1128	c.1002A>C	c.(1000-1002)ctA>ctC	p.L334L	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Silent_p.L334L	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	334					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AAATGGTCCTAAAGTAAGTAT	0.323																																							uc001lcg.2		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(1000-1002)CTA>CTC		attractin-like 1 precursor							145.0	153.0	150.0					10																	116919973		2203	4300	6503	SO:0001819	synonymous_variant	26033					integral to membrane	sugar binding	g.chr10:116919973A>C	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1002A>C	10.37:g.116919973A>C						ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Silent_p.L334L|ATRNL1_uc009xyq.2_Silent_p.L334L	p.L334L	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	6	1388	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	334			Extracellular (Potential).|Kelch 1.		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	c.1002A>C	CCDS7592.1																																																																																				0.323	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		33	73	0	0	0	0.003755	0	33	73				
PNLIPRP1	5407	broad.mit.edu	37	10	118364984	118364984	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr10:118364984G>A	ENST00000528052.1	+	12	1330	c.1259G>A	c.(1258-1260)tGg>tAg	p.W420*	PNLIPRP1_ENST00000358834.4_Nonsense_Mutation_p.W420*|PNLIPRP1_ENST00000534537.1_Nonsense_Mutation_p.W420*			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	420	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AAGTTTCTTTGGAATAACAAT	0.428																																							uc001lco.1		NA																	0				ovary(1)|breast(1)	2						c.(1258-1260)TGG>TAG		pancreatic lipase-related protein 1 precursor							120.0	121.0	121.0					10																	118364984		2203	4300	6503	SO:0001587	stop_gained	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118364984G>A	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.1259G>A	10.37:g.118364984G>A	ENSP00000433933:p.Trp420*					PNLIPRP1_uc001lcp.2_Nonsense_Mutation_p.W420*	p.W420*	NM_006229	NP_006220	P54315	LIPR1_HUMAN		all cancers(201;0.0161)	12	1277	+			420			PLAT.		Q68D83|Q68DR6|Q8TAU2|Q9BS82	Nonsense_Mutation	SNP	ENST00000528052.1	37	c.1259G>A	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	g	37	6.210912	0.97380	.	.	ENSG00000187021	ENST00000358834;ENST00000528052;ENST00000534537	.	.	.	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5911	18.264	0.90046	0.0:0.0:1.0:0.0	.	.	.	.	X	420	.	ENSP00000351695:W420X	W	+	2	0	PNLIPRP1	118354974	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.505000	0.81655	2.588000	0.87417	0.550000	0.68814	TGG		0.428	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		5	49	0	0	0	0.001168	0	5	49				
PNLIPRP2	5408	broad.mit.edu	37	10	118385455	118385455	+	RNA	SNP	A	A	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr10:118385455A>T	ENST00000298771.7	+	0	229				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		AAATTAAACCAGCTAATCACT	0.438																																							uc001lcq.2		NA																	0				large_intestine(1)	1						c.e6-2		pancreatic lipase-related protein 2							64.0	67.0	66.0					10																	118385455		1988	4178	6166			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118385455A>T	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118385455A>T						PNLIPRP2_uc009xyu.1_Splice_Site|PNLIPRP2_uc009xyv.1_Splice_Site	p.L70_splice	NM_005396	NP_005387	P54317	LIPR2_HUMAN		all cancers(201;0.015)	6	231	+								A8K627|Q6IB55	Splice_Site	SNP	ENST00000298771.7	37	c.208_splice		.	.	.	.	.	.	.	.	.	.	A	11.14	1.552440	0.27739	.	.	ENSG00000165862	ENST00000537242	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5412	0.76048	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PNLIPRP2	118375445	1.000000	0.71417	0.995000	0.50966	0.675000	0.39556	6.081000	0.71309	2.367000	0.80283	0.528000	0.53228	.		0.438	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		20	22	0	0	0	0.001523	0	20	22				
TACC2	10579	broad.mit.edu	37	10	123987490	123987490	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr10:123987490G>T	ENST00000369005.1	+	14	8203	c.7863G>T	c.(7861-7863)atG>atT	p.M2621I	TACC2_ENST00000515603.1_Missense_Mutation_p.M2576I|TACC2_ENST00000360561.3_Missense_Mutation_p.M699I|TACC2_ENST00000368999.1_Missense_Mutation_p.M711I|TACC2_ENST00000513429.1_Missense_Mutation_p.M767I|TACC2_ENST00000369001.1_Missense_Mutation_p.M325I|TACC2_ENST00000358010.1_Missense_Mutation_p.M767I|TACC2_ENST00000334433.3_Missense_Mutation_p.M2621I|TACC2_ENST00000515273.1_Missense_Mutation_p.M2625I|TACC2_ENST00000369004.3_Missense_Mutation_p.M711I|TACC2_ENST00000369000.1_Missense_Mutation_p.M321I|TACC2_ENST00000453444.2_Missense_Mutation_p.M2625I|TACC2_ENST00000260733.3_Missense_Mutation_p.M699I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2621					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGGAGGCCATGGGCTTGGGCA	0.567																																							uc001lfv.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(7861-7863)ATG>ATT		transforming, acidic coiled-coil containing							80.0	84.0	83.0					10																	123987490		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123987490G>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7863G>T	10.37:g.123987490G>T	ENSP00000358001:p.Met2621Ile					TACC2_uc001lfw.2_Missense_Mutation_p.M767I|TACC2_uc009xzx.2_Missense_Mutation_p.M2576I|TACC2_uc010qtv.1_Missense_Mutation_p.M2625I|TACC2_uc001lfx.2_Missense_Mutation_p.M325I|TACC2_uc001lfy.2_Missense_Mutation_p.M321I|TACC2_uc001lfz.2_Missense_Mutation_p.M699I|TACC2_uc001lga.2_Missense_Mutation_p.M699I|TACC2_uc009xzy.2_Missense_Mutation_p.M711I|TACC2_uc001lgb.2_Missense_Mutation_p.M656I	p.M2621I	NM_206862	NP_996744	O95359	TACC2_HUMAN			14	8223	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2621					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.7863G>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491521	0.26774	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000496913	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.17054	4.04;3.65;4.12;4.09;4.04;3.65;4.12;2.3;2.3;3.52;3.53;3.52;3.53;2.64	5.25	4.33	0.51752	.	0.000000	0.44688	D	0.000421	T	0.16938	0.0407	N	0.14661	0.345	0.32915	D	0.51498	D;B;D;D;B;B;B;B;P	0.53312	0.959;0.217;0.959;0.959;0.175;0.104;0.011;0.104;0.593	P;B;P;P;B;B;B;B;B	0.58013	0.831;0.132;0.831;0.831;0.088;0.135;0.023;0.135;0.437	T	0.02844	-1.1103	10	0.12430	T	0.62	-13.4237	11.9032	0.52694	0.0806:0.0:0.9194:0.0	.	2625;711;2576;2625;699;699;321;767;2621	E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	I	2621;767;2625;2576;2621;767;2625;2611;325;321;699;711;711;699;356	ENSP00000358001:M2621I;ENSP00000425062:M767I;ENSP00000424467:M2625I;ENSP00000427618:M2576I;ENSP00000334280:M2621I;ENSP00000350701:M767I;ENSP00000395048:M2625I;ENSP00000357997:M325I;ENSP00000357996:M321I;ENSP00000353763:M699I;ENSP00000357995:M711I;ENSP00000422815:M711I;ENSP00000260733:M699I;ENSP00000422725:M356I	ENSP00000260733:M699I	M	+	3	0	TACC2	123977480	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	3.491000	0.53252	2.618000	0.88619	0.655000	0.94253	ATG		0.567	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			21	76	1	0	2.89027e-11	0.002299	4.66107e-11	21	76				
NUP98	4928	broad.mit.edu	37	11	3740728	3740728	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:3740728C>A	ENST00000324932.7	-	18	2733	c.2313G>T	c.(2311-2313)ttG>ttT	p.L771F	NUP98_ENST00000397007.4_Missense_Mutation_p.L788F|NUP98_ENST00000397004.4_Missense_Mutation_p.L771F|NUP98_ENST00000355260.3_Missense_Mutation_p.L771F|NUP98_ENST00000359171.4_Missense_Mutation_p.L771F	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	788	Peptidase S59. {ECO:0000255|PROSITE- ProRule:PRU00765}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CAATATCATCCAAATTTAGAT	0.333			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																		uc001lyh.2		NA		Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11		AML		0				breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12						c.(2311-2313)TTG>TTT		nucleoporin 98kD isoform 1							91.0	89.0	89.0					11																	3740728		2201	4295	6496	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3740728C>A	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.2313G>T	11.37:g.3740728C>A	ENSP00000316032:p.Leu771Phe					NUP98_uc001lyi.2_Missense_Mutation_p.L771F|NUP98_uc001lyj.1_Missense_Mutation_p.L771F|NUP98_uc001lyk.1_Missense_Mutation_p.L788F	p.L771F	NM_016320	NP_057404	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	18	2604	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	788			Peptidase S59.		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.2313G>T	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487321	0.63962	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.37	2.44	0.29823	.	0.000000	0.64402	D	0.000001	T	0.69540	0.3122	M	0.72576	2.205	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.983;0.998;0.998;0.998	T	0.65142	-0.6240	9	0.42905	T	0.14	.	7.7154	0.28702	0.0:0.7301:0.0:0.2699	.	788;771;771;771	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	F	771;771;771;771;788	.	ENSP00000316032:L771F	L	-	3	2	NUP98	3697304	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.812000	0.27211	0.230000	0.21059	-0.253000	0.11424	TTG		0.333	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		20	31	1	0	5.03518e-11	0.007413	8.00734e-11	20	31				
OR52M1	119772	broad.mit.edu	37	11	4566822	4566822	+	Silent	SNP	T	T	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:4566822T>C	ENST00000360213.1	+	1	402	c.402T>C	c.(400-402)caT>caC	p.H134H		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACTACGTCATAGCATGGTGC	0.527																																							uc010qyf.1		NA																	0					0						c.(400-402)CAT>CAC		olfactory receptor, family 52, subfamily M,							124.0	114.0	117.0					11																	4566822		2201	4298	6499	SO:0001819	synonymous_variant	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4566822T>C	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.402T>C	11.37:g.4566822T>C							p.H134H	NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	402	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	134			Cytoplasmic (Potential).			Silent	SNP	ENST00000360213.1	37	c.402T>C	CCDS31353.1																																																																																				0.527	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		9	49	0	0	0	0.004482	0	9	49				
C11orf40	143501	broad.mit.edu	37	11	4594548	4594548	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:4594548C>A	ENST00000307616.1	-	2	295	c.296G>T	c.(295-297)tGc>tTc	p.C99F		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	99										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TACCCTAAAGCAAGGTCTTTT	0.488																																							uc010qyg.1		NA																	0		p.C99*(1)		ovary(2)	2						c.(295-297)TGC>TTC		hypothetical protein LOC143501							215.0	175.0	189.0					11																	4594548		2201	4298	6499	SO:0001583	missense	143501							g.chr11:4594548C>A		CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.296G>T	11.37:g.4594548C>A	ENSP00000302918:p.Cys99Phe						p.C99F	NM_144663	NP_653264	Q8WZ69	CK040_HUMAN		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	2	296	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	99						Missense_Mutation	SNP	ENST00000307616.1	37	c.296G>T	CCDS31354.1	.	.	.	.	.	.	.	.	.	.	C	2.940	-0.219140	0.06101	.	.	ENSG00000171987	ENST00000307616	T	0.55930	0.49	1.45	-0.534	0.11883	.	.	.	.	.	T	0.43743	0.1261	N	0.08118	0	0.09310	N	1	D	0.58268	0.982	D	0.63877	0.919	T	0.30504	-0.9976	9	0.87932	D	0	.	3.8976	0.09146	0.0:0.5391:0.0:0.4609	.	99	Q8WZ69	CK040_HUMAN	F	99	ENSP00000302918:C99F	ENSP00000302918:C99F	C	-	2	0	C11orf40	4551124	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.131000	0.03238	-0.165000	0.10908	0.411000	0.27672	TGC		0.488	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383529.1	NM_144663		22	60	1	0	5.35356e-11	0.00278	8.48419e-11	22	60				
OR52A1	23538	broad.mit.edu	37	11	5173339	5173339	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:5173339G>C	ENST00000380367.1	-	2	678	c.261C>G	c.(259-261)ttC>ttG	p.F87L	OR52A1_ENST00000328942.1_Missense_Mutation_p.F87L			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	87					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTAAACCAGAATATTCCAA	0.453																																							uc010qyy.1		NA																	0				ovary(1)|breast(1)	2						c.(259-261)TTC>TTG		olfactory receptor, family 52, subfamily A,							74.0	63.0	67.0					11																	5173339		2201	4298	6499	SO:0001583	missense	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5173339G>C	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.261C>G	11.37:g.5173339G>C	ENSP00000369725:p.Phe87Leu						p.F87L	NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	261	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	87			Extracellular (Potential).		Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	c.261C>G	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615888	0.66672	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.00912	5.55;5.55	5.28	-2.7	0.06004	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000048	T	0.02304	0.0071	L	0.49778	1.585	0.27938	N	0.937618	D	0.89917	1.0	D	0.87578	0.998	T	0.25950	-1.0117	10	0.46703	T	0.11	.	6.8906	0.24226	0.4047:0.1107:0.4845:0.0	.	87	Q9UKL2	O52A1_HUMAN	L	87	ENSP00000369725:F87L;ENSP00000333684:F87L	ENSP00000333684:F87L	F	-	3	2	OR52A1	5129915	0.000000	0.05858	0.976000	0.42696	0.931000	0.56810	-1.886000	0.01619	-0.339000	0.08401	0.591000	0.81541	TTC		0.453	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		4	14	0	0	0	0.000248	0	4	14				
FAM160A2	84067	broad.mit.edu	37	11	6238611	6238611	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:6238611C>G	ENST00000449352.2	-	9	2468	c.2205G>C	c.(2203-2205)caG>caC	p.Q735H	FAM160A2_ENST00000529360.1_5'Flank|FAM160A2_ENST00000265978.4_Missense_Mutation_p.Q749H|FAM160A2_ENST00000524416.1_Missense_Mutation_p.Q735H			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	735					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGTGAAGGGCTGGCTTGGCA	0.567																																							uc001mcl.3		NA																	0				skin(2)	2						c.(2203-2205)CAG>CAC		hypothetical protein LOC84067 isoform 2							53.0	50.0	51.0					11																	6238611		2201	4296	6497	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6238611C>G		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.2205G>C	11.37:g.6238611C>G	ENSP00000416918:p.Gln735His					FAM160A2_uc001mck.3_Missense_Mutation_p.Q749H|FAM160A2_uc001mcm.2_Missense_Mutation_p.Q735H	p.Q735H	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN			9	2564	-			735					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.2205G>C	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008021	0.35415	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.49720	0.77;0.77;0.77	5.11	-0.199	0.13220	.	0.320704	0.36591	N	0.002504	T	0.53786	0.1818	L	0.55990	1.75	0.27645	N	0.947609	D;D;D	0.69078	0.992;0.99;0.997	D;D;D	0.81914	0.976;0.969;0.995	T	0.51293	-0.8724	10	0.15066	T	0.55	-14.9986	9.065	0.36458	0.0:0.5695:0.0:0.4305	.	735;735;749	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	H	735;660;749;735	ENSP00000416918:Q735H;ENSP00000265978:Q749H;ENSP00000431773:Q735H	ENSP00000265978:Q749H	Q	-	3	2	FAM160A2	6195187	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	0.842000	0.27627	0.082000	0.17018	-0.224000	0.12420	CAG		0.567	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		9	25	0	0	0	0.006214	0	9	25				
TRIM3	10612	broad.mit.edu	37	11	6478952	6478952	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:6478952C>A	ENST00000525074.1	-	4	883	c.489G>T	c.(487-489)caG>caT	p.Q163H	TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000345851.3_Missense_Mutation_p.Q163H|TRIM3_ENST00000536344.1_Missense_Mutation_p.Q44H|TRIM3_ENST00000359518.3_Missense_Mutation_p.Q163H|TRIM3_ENST00000537602.1_Missense_Mutation_p.Q163H	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	163					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGAGCTGGCGCTGCAGGGCCG	0.677																																					Melanoma(6;5 510 1540 25169 29084)	Melanoma(6;5 510 1540 25169 29084)	uc001mdh.2		NA																	0				central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5						c.(487-489)CAG>CAT		tripartite motif-containing 3							45.0	45.0	45.0					11																	6478952		2200	4295	6495	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6478952C>A	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.489G>T	11.37:g.6478952C>A	ENSP00000433102:p.Gln163His					TRIM3_uc001mdi.2_Missense_Mutation_p.Q163H|TRIM3_uc010raj.1_Missense_Mutation_p.Q44H|TRIM3_uc009yfd.2_Missense_Mutation_p.Q163H|TRIM3_uc010rak.1_Missense_Mutation_p.Q163H|TRIM3_uc001mdj.2_Missense_Mutation_p.Q44H	p.Q163H	NM_006458	NP_006449	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	876	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	163			Potential.		B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.489G>T	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	c	12.45	1.943089	0.34283	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344;ENST00000528227	T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34	4.98	3.04	0.35103	B-box, C-terminal (1);	0.172931	0.52532	N	0.000080	T	0.40297	0.1111	L	0.34521	1.04	0.39426	D	0.967001	B;B;B	0.20368	0.044;0.006;0.0	B;B;B	0.26202	0.067;0.013;0.008	T	0.38478	-0.9659	10	0.66056	D	0.02	-5.9777	7.9462	0.29987	0.1615:0.7524:0.0:0.0861	.	44;44;163	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	H	163;163;163;163;152;163;163;44;163	ENSP00000433102:Q163H;ENSP00000340797:Q163H;ENSP00000441091:Q163H;ENSP00000352508:Q163H;ENSP00000445460:Q44H;ENSP00000433070:Q163H	ENSP00000337094:Q152H	Q	-	3	2	TRIM3	6435528	0.093000	0.21703	1.000000	0.80357	0.991000	0.79684	0.571000	0.23669	1.045000	0.40225	0.443000	0.29094	CAG		0.677	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		15	41	1	0	3.27435e-08	0.00245	4.88486e-08	15	41				
NLRP14	338323	broad.mit.edu	37	11	7065059	7065059	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:7065059G>A	ENST00000299481.4	+	4	2148	c.1802G>A	c.(1801-1803)tGt>tAt	p.C601Y		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	601					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCAATGAGATGTTTCCCAAAG	0.423																																							uc001mfb.1		NA																	0				ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(1801-1803)TGT>TAT		NLR family, pyrin domain containing 14							148.0	150.0	149.0					11																	7065059		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7065059G>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1802G>A	11.37:g.7065059G>A	ENSP00000299481:p.Cys601Tyr						p.C601Y	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	2125	+			601					Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.1802G>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.681323	0.00102	.	.	ENSG00000158077	ENST00000299481	D	0.86097	-2.07	4.58	-1.16	0.09678	.	1.024750	0.07788	N	0.954477	T	0.52108	0.1714	N	0.00656	-1.285	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52771	-0.8531	10	0.02654	T	1	.	4.9524	0.14021	0.4347:0.3799:0.1854:0.0	.	601	Q86W24	NAL14_HUMAN	Y	601	ENSP00000299481:C601Y	ENSP00000299481:C601Y	C	+	2	0	NLRP14	7021635	0.000000	0.05858	0.015000	0.15790	0.195000	0.23768	-0.724000	0.04947	-0.295000	0.08960	-0.294000	0.09567	TGT		0.423	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		20	64	0	0	0	0.002299	0	20	64				
API5	8539	broad.mit.edu	37	11	43340233	43340233	+	Missense_Mutation	SNP	G	G	A	rs35999189		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:43340233G>A	ENST00000531273.1	+	2	252	c.113G>A	c.(112-114)gGt>gAt	p.G38D	API5_ENST00000455725.2_Missense_Mutation_p.G27D|API5_ENST00000420461.2_Intron|API5_ENST00000534695.1_Missense_Mutation_p.G38D|API5_ENST00000378852.3_Missense_Mutation_p.G38D|API5_ENST00000534600.1_Missense_Mutation_p.G38D			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	38	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						GTGAAAGGTGGTACTAAGGAA	0.368																																					Pancreas(1;98 122 5625 20895 49453)	Pancreas(1;98 122 5625 20895 49453)	uc010rfh.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(112-114)GGT>GAT		apoptosis inhibitor 5 isoform a							116.0	113.0	114.0					11																	43340233		2203	4300	6503	SO:0001583	missense	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43340233G>A	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.113G>A	11.37:g.43340233G>A	ENSP00000431391:p.Gly38Asp					API5_uc010rfg.1_Missense_Mutation_p.G27D|API5_uc001mxf.2_Missense_Mutation_p.G38D|API5_uc010rfi.1_Intron|API5_uc001mxg.2_5'UTR	p.G38D	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN			2	286	+			38					B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Missense_Mutation	SNP	ENST00000531273.1	37	c.113G>A	CCDS44572.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706960	0.68615	.	.	ENSG00000166181	ENST00000534695;ENST00000455725;ENST00000531273;ENST00000378852;ENST00000534600	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.7	5.7	0.88788	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	L	0.28274	0.84	0.80722	D	1	D;B;B	0.69078	0.997;0.261;0.42	D;B;B	0.64042	0.921;0.163;0.099	T	0.01688	-1.1295	10	0.36615	T	0.2	-6.3372	19.5245	0.95199	0.0:0.0:1.0:0.0	rs35999189	38;27;38	Q9BZZ5;B4E283;Q9BZZ5-2	API5_HUMAN;.;.	D	38;27;38;38;38	ENSP00000436189:G38D;ENSP00000399341:G27D;ENSP00000431391:G38D;ENSP00000368129:G38D;ENSP00000434462:G38D	ENSP00000368129:G38D	G	+	2	0	API5	43296809	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.865000	0.99609	2.713000	0.92767	0.558000	0.71614	GGT		0.368	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		16	43	0	0	0	0.004007	0	16	43				
SYT13	57586	broad.mit.edu	37	11	45277237	45277237	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:45277237A>T	ENST00000020926.3	-	2	500	c.389T>A	c.(388-390)cTg>cAg	p.L130Q	CTD-2560E9.5_ENST00000531663.1_RNA|CTD-2560E9.5_ENST00000534342.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	130					vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GAGGATGAACAGCTCCTCTGT	0.582																																							uc001myq.2		NA																	0				ovary(1)	1						c.(388-390)CTG>CAG		synaptotagmin XIII							57.0	50.0	52.0					11																	45277237		2203	4299	6502	SO:0001583	missense	57586					transport vesicle		g.chr11:45277237A>T	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.389T>A	11.37:g.45277237A>T	ENSP00000020926:p.Leu130Gln					SYT13_uc009yku.1_5'UTR	p.L130Q	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN			2	515	-			130			Cytoplasmic (Potential).		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	37	c.389T>A	CCDS31470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.9|22.9	4.354484|4.354484	0.82243|0.82243	.|.	.|.	ENSG00000019505|ENSG00000019505	ENST00000528101|ENST00000020926	.|T	.|0.09723	.|2.95	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.098050	.|0.43260	.|D	.|0.000581	T|T	0.17195|0.17195	0.0413|0.0413	N|N	0.24115|0.24115	0.695|0.695	0.41341|0.41341	D|D	0.987305|0.987305	.|D	.|0.71674	.|0.998	.|P	.|0.61940	.|0.896	T|T	0.07009|0.07009	-1.0795|-1.0795	5|10	.|0.30854	.|T	.|0.27	.|.	14.262|14.262	0.66090|0.66090	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|130	.|Q7L8C5	.|SYT13_HUMAN	S|Q	90|130	.|ENSP00000020926:L130Q	.|ENSP00000020926:L130Q	C|L	-|-	1|2	0|0	SYT13|SYT13	45233813|45233813	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.332000|6.332000	0.72934|0.72934	2.163000|2.163000	0.67991|0.67991	0.459000|0.459000	0.35465|0.35465	TGT|CTG		0.582	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		6	25	0	0	0	0.001984	0	6	25				
OR4S1	256148	broad.mit.edu	37	11	48328158	48328158	+	Silent	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:48328158G>T	ENST00000319988.1	+	1	384	c.384G>T	c.(382-384)ctG>ctT	p.L128L		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						GTAGGCCCCTGCACTACACAG	0.582																																							uc010rhu.1		NA																	0				ovary(1)	1						c.(382-384)CTG>CTT		olfactory receptor, family 4, subfamily S,							100.0	88.0	92.0					11																	48328158		2201	4288	6489	SO:0001819	synonymous_variant	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328158G>T	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.384G>T	11.37:g.48328158G>T							p.L128L	NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN			1	384	+			128			Cytoplasmic (Potential).		Q6IFB4	Silent	SNP	ENST00000319988.1	37	c.384G>T	CCDS31488.1																																																																																				0.582	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		25	66	1	0	9.80776e-20	0.00632	1.86388e-19	25	66				
OR4C46	119749	broad.mit.edu	37	11	51515998	51515998	+	Silent	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:51515998C>A	ENST00000328188.1	+	1	717	c.717C>A	c.(715-717)gtC>gtA	p.V239V		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CCACCTGTGTCTCCCACATCA	0.463																																							uc010ric.1		NA																	0				ovary(1)	1						c.(715-717)GTC>GTA		olfactory receptor, family 4, subfamily C,							133.0	113.0	120.0					11																	51515998		2201	4296	6497	SO:0001819	synonymous_variant	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515998C>A		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.717C>A	11.37:g.51515998C>A							p.V239V	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	717	+			239			Helical; Name=6; (Potential).			Silent	SNP	ENST00000328188.1	37	c.717C>A	CCDS31498.1																																																																																				0.463	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		7	64	1	0	6.5536e-12	0.00308	1.08359e-11	7	64				
OR4C16	219428	broad.mit.edu	37	11	55340262	55340262	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:55340262T>G	ENST00000314634.3	+	1	659	c.659T>G	c.(658-660)tTg>tGg	p.L220W		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L220S(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GTCATCTTCTTGCATTCTCTG	0.418																																							uc010rih.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(658-660)TTG>TGG		olfactory receptor, family 4, subfamily C,							135.0	112.0	120.0					11																	55340262		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55340262T>G	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.659T>G	11.37:g.55340262T>G	ENSP00000324913:p.Leu220Trp						p.L220W	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			1	659	+		all_epithelial(135;0.0748)	220			Cytoplasmic (Potential).		Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.659T>G	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.699186	0.30142	.	.	ENSG00000181935	ENST00000314634	T	0.42513	0.97	4.98	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000215	T	0.74741	0.3756	H	0.97783	4.075	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70691	-0.4802	10	0.72032	D	0.01	.	10.2321	0.43260	0.0:0.0:0.1666:0.8334	.	220	Q8NGL9	OR4CG_HUMAN	W	220	ENSP00000324913:L220W	ENSP00000324913:L220W	L	+	2	0	OR4C16	55096838	0.006000	0.16342	0.003000	0.11579	0.064000	0.16182	1.178000	0.31981	0.911000	0.36747	0.448000	0.29417	TTG		0.418	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		10	31	0	0	0	0.008291	0	10	31				
OR5D14	219436	broad.mit.edu	37	11	55563554	55563554	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:55563554G>C	ENST00000335605.1	+	1	523	c.523G>C	c.(523-525)Gta>Cta	p.V175L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	175						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)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGGACCTAATGTAATCAACCA	0.498																																							uc010rim.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(523-525)GTA>CTA		olfactory receptor, family 5, subfamily D,							210.0	210.0	210.0					11																	55563554		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563554G>C	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.523G>C	11.37:g.55563554G>C	ENSP00000334456:p.Val175Leu						p.V175L	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	523	+		all_epithelial(135;0.196)	175			Extracellular (Potential).		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.523G>C	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	g	4.668	0.124133	0.08931	.	.	ENSG00000186113	ENST00000335605	T	0.00145	8.67	4.96	-0.482	0.12078	GPCR, rhodopsin-like superfamily (1);	0.548618	0.15119	N	0.279496	T	0.00178	0.0005	L	0.52573	1.65	0.09310	N	1	B	0.21520	0.057	B	0.32149	0.141	T	0.16100	-1.0414	10	0.51188	T	0.08	-3.0106	9.96	0.41691	0.4764:0.0:0.5236:0.0	.	175	Q8NGL3	OR5DE_HUMAN	L	175	ENSP00000334456:V175L	ENSP00000334456:V175L	V	+	1	0	OR5D14	55320130	0.000000	0.05858	0.006000	0.13384	0.001000	0.01503	-1.545000	0.02190	-0.002000	0.14469	-0.152000	0.13540	GTA		0.498	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		28	134	0	0	0	0.002096	0	28	134				
OR5M1	390168	broad.mit.edu	37	11	56380513	56380513	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:56380513C>T	ENST00000526538.1	-	1	465	c.466G>A	c.(466-468)Ggg>Agg	p.G156R		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TGAGAGAACCCACTAAGAAAC	0.458																																							uc001nja.1		NA																	0				central_nervous_system(1)	1						c.(466-468)GGG>AGG		olfactory receptor, family 5, subfamily M,							108.0	99.0	102.0					11																	56380513		1947	4154	6101	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380513C>T	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.466G>A	11.37:g.56380513C>T	ENSP00000435416:p.Gly156Arg						p.G156R	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN			1	466	-			156			Helical; Name=4; (Potential).		Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.466G>A	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	C	9.072	0.997223	0.19043	.	.	ENSG00000255012	ENST00000526538	T	0.38240	1.15	3.71	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39274	N	0.001414	T	0.60521	0.2275	M	0.87328	2.875	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53279	-0.8461	10	0.87932	D	0	-23.9483	8.5781	0.33612	0.2296:0.7704:0.0:0.0	.	156	Q8NGP8	OR5M1_HUMAN	R	156	ENSP00000435416:G156R	ENSP00000435416:G156R	G	-	1	0	OR5M1	56137089	0.000000	0.05858	0.071000	0.20095	0.073000	0.16967	0.724000	0.25954	1.949000	0.56562	0.280000	0.19369	GGG		0.458	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		12	41	0	0	0	0.000978	0	12	41				
OR4D6	219983	broad.mit.edu	37	11	59224911	59224911	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:59224911G>A	ENST00000300127.2	+	1	501	c.478G>A	c.(478-480)Gta>Ata	p.V160I		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	160						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(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						AATCATCCAGGTAATTCTGAT	0.527																																							uc010rku.1		NA																	0				ovary(1)	1						c.(478-480)GTA>ATA		olfactory receptor, family 4, subfamily D,							270.0	236.0	248.0					11																	59224911		2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59224911G>A	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.478G>A	11.37:g.59224911G>A	ENSP00000300127:p.Val160Ile						p.V160I	NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN			1	478	+			160			Extracellular (Potential).		B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.478G>A	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.410898	0.01145	.	.	ENSG00000166884	ENST00000300127	T	0.00158	8.65	6.0	1.08	0.20341	GPCR, rhodopsin-like superfamily (1);	0.504996	0.17857	N	0.159677	T	0.00073	0.0002	N	0.15975	0.35	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.24512	-1.0158	10	0.02654	T	1	-10.1183	8.1534	0.31154	0.6138:0.0:0.3862:0.0	.	160	Q8NGJ1	OR4D6_HUMAN	I	160	ENSP00000300127:V160I	ENSP00000300127:V160I	V	+	1	0	OR4D6	58981487	0.000000	0.05858	0.667000	0.29798	0.378000	0.30076	-0.356000	0.07661	0.172000	0.19760	0.650000	0.86243	GTA		0.527	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		43	63	0	0	0	0.002222	0	43	63				
CD5	921	broad.mit.edu	37	11	60889151	60889151	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:60889151C>A	ENST00000347785.3	+	6	1040	c.874C>A	c.(874-876)Cgc>Agc	p.R292S		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	292	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CGTGGAGGTGCGCCAGGGGGC	0.657																																							uc009ynk.2		NA																	0				ovary(1)	1						c.(874-876)CGC>AGC		CD5 molecule precursor							49.0	44.0	46.0					11																	60889151		2203	4299	6502	SO:0001583	missense	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60889151C>A	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.874C>A	11.37:g.60889151C>A	ENSP00000342681:p.Arg292Ser						p.R292S	NM_014207	NP_055022	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	6	977	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	292			Extracellular (Potential).|SRCR 3.		A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	c.874C>A	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615887	0.66672	.	.	ENSG00000110448	ENST00000347785	T	0.29142	1.58	5.61	3.26	0.37387	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.213107	0.32401	N	0.006158	T	0.40743	0.1129	M	0.77820	2.39	0.33331	D	0.56863	D	0.59357	0.985	P	0.55965	0.788	T	0.52518	-0.8565	10	0.33940	T	0.23	-46.5398	3.1955	0.06631	0.2621:0.5732:0.0:0.1646	.	292	P06127	CD5_HUMAN	S	292	ENSP00000342681:R292S	ENSP00000342681:R292S	R	+	1	0	CD5	60645727	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.757000	0.38400	2.638000	0.89438	0.561000	0.74099	CGC		0.657	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		12	36	1	0	1.08611e-07	0.000978	1.59948e-07	12	36				
SYT7	9066	broad.mit.edu	37	11	61291321	61291321	+	Silent	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:61291321G>A	ENST00000263846.4	-	7	1212	c.885C>T	c.(883-885)gcC>gcT	p.A295A	SYT7_ENST00000542670.1_Silent_p.A503A|SYT7_ENST00000542836.1_Silent_p.A339A|SYT7_ENST00000540831.1_5'Flank|SYT7_ENST00000540677.1_Silent_p.A370A|SYT7_ENST00000535826.1_Silent_p.A414A|SYT7_ENST00000539008.1_Silent_p.A578A	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	295	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGATGTCCATGGCTTTGAGGT	0.607																																							uc001nrv.2		NA																	0				ovary(3)|pancreas(1)	4						c.(883-885)GCC>GCT		synaptotagmin VII							312.0	297.0	302.0					11																	61291321		2202	4299	6501	SO:0001819	synonymous_variant	9066					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr11:61291321G>A	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.885C>T	11.37:g.61291321G>A						SYT7_uc009ynr.2_Silent_p.A370A	p.A295A	NM_004200	NP_004191	O43581	SYT7_HUMAN			7	891	-			295			C2 2.|Cytoplasmic (Potential).		F5GZU9|Q08AH6	Silent	SNP	ENST00000263846.4	37	c.885C>T	CCDS31577.1																																																																																				0.607	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		119	185	0	0	0	0.00361	0	119	185				
SLC22A25	387601	broad.mit.edu	37	11	62997100	62997100	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:62997100G>T	ENST00000306494.6	-	1	24	c.25C>A	c.(25-27)Caa>Aaa	p.Q9K	SLC22A10_ENST00000535888.1_Intron|SLC22A25_ENST00000403374.2_5'Flank|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CCTCCAACTTGATCTAGGAGG	0.438																																							uc001nwr.1		NA																	0				ovary(3)|skin(1)	4						c.(25-27)CAA>AAA		putative UST1-like organic anion transporter							46.0	50.0	48.0					11																	62997100		2201	4298	6499	SO:0001583	missense	387601				transmembrane transport	integral to membrane		g.chr11:62997100G>T	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.25C>A	11.37:g.62997100G>T	ENSP00000307443:p.Gln9Lys					SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA|SLC22A25_uc001nwt.1_Missense_Mutation_p.Q9K	p.Q9K	NM_199352	NP_955384	Q6T423	S22AP_HUMAN			1	25	-			9			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000306494.6	37	c.25C>A	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	G	2.283	-0.364153	0.05103	.	.	ENSG00000196600	ENST00000306494;ENST00000451441	T	0.36157	1.27	3.98	-1.76	0.08006	.	0.474947	0.22983	N	0.053281	T	0.31199	0.0789	M	0.75615	2.305	0.09310	N	0.99999	B;B	0.19706	0.019;0.038	B;B	0.17979	0.013;0.02	T	0.25152	-1.0140	10	0.33141	T	0.24	.	7.0471	0.25052	0.0:0.201:0.2522:0.5468	.	7;9	A4IF29;Q6T423	.;S22AP_HUMAN	K	9	ENSP00000307443:Q9K	ENSP00000307443:Q9K	Q	-	1	0	SLC22A25	62753676	0.011000	0.17503	0.024000	0.17045	0.129000	0.20672	0.718000	0.25866	-0.045000	0.13468	-0.777000	0.03380	CAA		0.438	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		19	25	1	0	5.03518e-11	0.007413	8.00734e-11	19	25				
ANO1	55107	broad.mit.edu	37	11	70033898	70033898	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:70033898A>G	ENST00000355303.5	+	26	3054	c.2749A>G	c.(2749-2751)Aag>Gag	p.K917E	ANO1_ENST00000530676.1_Missense_Mutation_p.K771E|ANO1_ENST00000398543.2_Missense_Mutation_p.K771E|ANO1-AS1_ENST00000524987.1_RNA|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000538023.1_Missense_Mutation_p.K917E|ANO1_ENST00000531349.1_Missense_Mutation_p.K626E	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	917					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GGACATCCCCAAGGACATCAG	0.582																																							uc001opj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2749-2751)AAG>GAG		anoctamin 1, calcium activated chloride channel							41.0	46.0	44.0					11																	70033898		2119	4239	6358	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70033898A>G	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2749A>G	11.37:g.70033898A>G	ENSP00000347454:p.Lys917Glu					ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.K626E|ANO1_uc010rql.1_Missense_Mutation_p.K91E	p.K917E	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			26	3054	+			917			Cytoplasmic (Potential).		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.2749A>G	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.906288	0.52333	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000530676;ENST00000531349;ENST00000539321	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.68842	0.3045	L	0.42686	1.345	0.49130	D	0.99975	D;P	0.53619	0.961;0.935	P;P	0.61328	0.887;0.824	T	0.67726	-0.5596	9	.	.	.	.	13.895	0.63766	1.0:0.0:0.0:0.0	.	626;917	E9PNA7;Q5XXA6	.;ANO1_HUMAN	E	917;917;771;675;771;626;244	ENSP00000347454:K917E;ENSP00000444689:K917E;ENSP00000381551:K771E;ENSP00000435797:K771E;ENSP00000432843:K626E	.	K	+	1	0	ANO1	69711546	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.989000	0.76219	1.704000	0.51252	0.379000	0.24179	AAG		0.582	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		4	12	0	0	0	0.000248	0	4	12				
P2RY6	5031	broad.mit.edu	37	11	73008546	73008546	+	Missense_Mutation	SNP	G	G	A	rs193163379		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:73008546G>A	ENST00000393590.2	+	2	1282	c.983G>A	c.(982-984)cGc>cAc	p.R328H	P2RY6_ENST00000538328.1_Missense_Mutation_p.R328H|P2RY6_ENST00000349767.2_Missense_Mutation_p.R328H|P2RY6_ENST00000542092.1_Missense_Mutation_p.R328H|P2RY6_ENST00000540342.1_Missense_Mutation_p.R328H|P2RY6_ENST00000540124.1_Missense_Mutation_p.R328H|P2RY6_ENST00000393591.1_Missense_Mutation_p.R328H|P2RY6_ENST00000393592.2_Missense_Mutation_p.R328H	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	328					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						AGGCAGGGTCGCTGAGTCCTC	0.577																																							uc001otm.2		NA																	0				ovary(1)	1						c.(982-984)CGC>CAC		pyrimidinergic receptor P2Y6							21.0	21.0	21.0					11																	73008546		2146	4204	6350	SO:0001583	missense	5031				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:73008546G>A		CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8543	protein-coding gene	gene with protein product		602451				8670200	Standard	NM_176797		Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.983G>A	11.37:g.73008546G>A	ENSP00000377215:p.Arg328His					P2RY6_uc001otn.2_Missense_Mutation_p.R328H|P2RY6_uc001oto.2_Missense_Mutation_p.R328H|P2RY6_uc001otp.2_Missense_Mutation_p.R328H|P2RY6_uc001otq.2_Missense_Mutation_p.R328H|P2RY6_uc001otr.2_Missense_Mutation_p.R328H|P2RY6_uc001ots.2_Missense_Mutation_p.R328H	p.R328H	NM_176796	NP_789766	Q15077	P2RY6_HUMAN			4	1388	+			328			Cytoplasmic (Potential).		Q15754	Missense_Mutation	SNP	ENST00000393590.2	37	c.983G>A	CCDS8220.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015505	0.35511	.	.	ENSG00000171631	ENST00000540342;ENST00000542092;ENST00000349767;ENST00000393592;ENST00000393591;ENST00000540124;ENST00000393590;ENST00000538328	T;T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.11	-1.26	0.09376	.	0.864075	0.09974	N	0.731829	T	0.40570	0.1122	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25363	-1.0134	10	0.56958	D	0.05	.	4.4742	0.11727	0.5091:0.0:0.3245:0.1664	.	328	Q15077	P2RY6_HUMAN	H	328	ENSP00000443427:R328H;ENSP00000445652:R328H;ENSP00000309771:R328H;ENSP00000377217:R328H;ENSP00000377216:R328H;ENSP00000442551:R328H;ENSP00000377215:R328H;ENSP00000442990:R328H	ENSP00000309771:R328H	R	+	2	0	P2RY6	72686194	0.000000	0.05858	0.004000	0.12327	0.015000	0.08874	-0.216000	0.09266	-0.093000	0.12396	0.655000	0.94253	CGC		0.577	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397349.1			10	29	0	0	0	0.008291	0	10	29				
MYO7A	4647	broad.mit.edu	37	11	76892594	76892595	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:76892594_76892595GG>TT	ENST00000409709.3	+	23	3135_3136	c.2863_2864GG>TT	c.(2863-2865)GGc>TTc	p.G955F	MYO7A_ENST00000409893.1_Missense_Mutation_p.G955F|MYO7A_ENST00000409619.2_Missense_Mutation_p.G944F|MYO7A_ENST00000458637.2_Missense_Mutation_p.G955F	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	955			G -> S (in USH1B). {ECO:0000269|PubMed:9002678}.		actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GACTTCAGGTGGCCTGCCAGGC	0.604																																							uc001oyb.2		NA																	0				ovary(3)|breast(1)	4	GRCh37	CM971016	MYO7A	M		c.(2863-2865)GGC>TTC		myosin VIIA isoform 1																																				SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76892594_76892595GG>TT	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	Exception_encountered	11.37:g.76892594_76892595delinsTT	ENSP00000386331:p.Gly955Phe					MYO7A_uc010rsl.1_Missense_Mutation_p.G955F|MYO7A_uc010rsm.1_Missense_Mutation_p.G944F|MYO7A_uc001oyc.2_Missense_Mutation_p.G955F|MYO7A_uc001oyd.2_Missense_Mutation_p.G295F|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.G166F	p.G955F	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			23	3135_3136	+			955		G -> S (in USH1B).			B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	DNP	ENST00000409709.3	37	c.2863_2864GG>TT	CCDS53683.1																																																																																				0.604	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		7	22	0	0	0	0.004672	0	7	22				
MYO7A	4647	broad.mit.edu	37	11	76924959	76924959	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:76924959A>G	ENST00000409709.3	+	48	6765	c.6493A>G	c.(6493-6495)Acc>Gcc	p.T2165A	MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Missense_Mutation_p.T2116A|MYO7A_ENST00000458637.2_Missense_Mutation_p.T2125A	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2165	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CAGCGGCAACACCTACTTCCA	0.607																																							uc001oyb.2		NA																	0				ovary(3)|breast(1)	4						c.(6493-6495)ACC>GCC		myosin VIIA isoform 1							148.0	153.0	151.0					11																	76924959		2133	4231	6364	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76924959A>G	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.6493A>G	11.37:g.76924959A>G	ENSP00000386331:p.Thr2165Ala					MYO7A_uc001oyc.2_Missense_Mutation_p.T2125A|MYO7A_uc001oye.2_RNA	p.T2165A	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			48	6765	+			2165			FERM 2.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.6493A>G	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.385091	0.82792	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.87	5.87	0.94306	FERM domain (1);Pleckstrin homology-type (1);	0.094581	0.64402	D	0.000001	D	0.88093	0.6344	M	0.83384	2.64	0.80722	D	1	P;D	0.57571	0.917;0.98	P;D	0.63488	0.779;0.915	D	0.89043	0.3450	10	0.54805	T	0.06	.	16.2847	0.82712	1.0:0.0:0.0:0.0	.	2125;2165	F8VUN5;Q13402	.;MYO7A_HUMAN	A	2165;2125;2116;1338;2164;2134;2041;1307	ENSP00000386331:T2165A;ENSP00000392185:T2125A;ENSP00000386635:T2116A;ENSP00000417017:T1307A	ENSP00000345075:T2041A	T	+	1	0	MYO7A	76602607	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.152000	0.77419	2.242000	0.73789	0.528000	0.53228	ACC		0.607	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		25	100	0	0	0	0.007291	0	25	100				
BTG4	54766	broad.mit.edu	37	11	111368781	111368781	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:111368781G>T	ENST00000356018.2	-	3	452	c.253C>A	c.(253-255)Cac>Aac	p.H85N	BTG4_ENST00000525791.1_Missense_Mutation_p.H85N	NM_017589.3	NP_060059.1	Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	85					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|neuron differentiation (GO:0030182)					large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		AGTCCCAGGTGAGAAAAATCT	0.403																																							uc001plj.2		NA																	0					0						c.(253-255)CAC>AAC		B-cell translocation gene 4							219.0	184.0	196.0					11																	111368781		2201	4297	6498	SO:0001583	missense	54766				cell cycle arrest|negative regulation of cell proliferation|neuron differentiation			g.chr11:111368781G>T	AJ271351	CCDS8346.1	11q23	2008-05-27				ENSG00000137707			13862	protein-coding gene	gene with protein product		605673				10995567	Standard	NM_017589		Approved	PC3B	uc001plj.3	Q9NY30		ENST00000356018.2:c.253C>A	11.37:g.111368781G>T	ENSP00000348300:p.His85Asn					BTG4_uc001plk.2_Missense_Mutation_p.H85N	p.H85N	NM_017589	NP_060059	Q9NY30	BTG4_HUMAN		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)	3	438	-		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	85					Q8NEH7	Missense_Mutation	SNP	ENST00000356018.2	37	c.253C>A	CCDS8346.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089813	0.36855	.	.	ENSG00000137707	ENST00000356018;ENST00000525791;ENST00000456861	.	.	.	5.2	4.29	0.51040	Anti-proliferative protein (2);	0.324650	0.37623	N	0.002001	T	0.30541	0.0768	L	0.59436	1.845	0.28029	N	0.934206	B;P	0.40731	0.014;0.728	B;B	0.37833	0.063;0.259	T	0.35871	-0.9771	9	0.54805	T	0.06	.	5.2683	0.15611	0.0785:0.1422:0.6325:0.1467	.	85;85	Q8NEH7;Q9NY30	.;BTG4_HUMAN	N	85	.	ENSP00000348300:H85N	H	-	1	0	BTG4	110873991	0.977000	0.34250	1.000000	0.80357	0.987000	0.75469	1.711000	0.37930	1.210000	0.43336	0.655000	0.94253	CAC		0.403	BTG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391177.1			20	29	1	0	2.4624e-09	0.008871	3.74677e-09	20	29				
KCNJ5	3762	broad.mit.edu	37	11	128781777	128781777	+	Silent	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:128781777C>A	ENST00000338350.4	+	3	961	c.609C>A	c.(607-609)tcC>tcA	p.S203S	KCNJ5_ENST00000533599.1_Silent_p.S203S|KCNJ5_ENST00000529694.1_Silent_p.S203S			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	203					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	TCATGTTTTCCAACAACGCAG	0.592																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	uc001qet.2		NA																	0				skin(1)	1						c.(607-609)TCC>TCA		potassium inwardly-rectifying channel J5	Glibenclamide(DB01016)						130.0	128.0	129.0					11																	128781777		2201	4297	6498	SO:0001819	synonymous_variant	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781777C>A	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.609C>A	11.37:g.128781777C>A						KCNJ5_uc009zck.2_Silent_p.S203S|KCNJ5_uc001qew.2_Silent_p.S203S	p.S203S	NM_000890	NP_000881	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	923	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	203			Cytoplasmic (By similarity).		B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	c.609C>A	CCDS8479.1																																																																																				0.592	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		7	65	1	0	8.12818e-05	0.001984	0.000106363	7	65				
NTM	50863	broad.mit.edu	37	11	132177606	132177606	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:132177606G>T	ENST00000374786.1	+	4	1029	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	NTM_ENST00000374791.3_Nonsense_Mutation_p.E184*|NTM_ENST00000427481.2_Nonsense_Mutation_p.E175*|NTM_ENST00000374784.1_Nonsense_Mutation_p.E184*|NTM_ENST00000539799.1_Nonsense_Mutation_p.E184*|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000425719.2_Nonsense_Mutation_p.E184*	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	184	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.E184K(2)|p.E184*(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GAGTGAAGACGAATACTTGGA	0.493																																							uc001qgp.2		NA																	4	Substitution - Nonsense(2)|Substitution - Missense(2)		large_intestine(2)|lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(550-552)GAA>TAA		neurotrimin isoform 1							100.0	93.0	95.0					11																	132177606		2201	4297	6498	SO:0001587	stop_gained	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132177606G>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.550G>T	11.37:g.132177606G>T	ENSP00000363918:p.Glu184*					NTM_uc001qgm.2_Nonsense_Mutation_p.E184*|NTM_uc010sch.1_Nonsense_Mutation_p.E175*|NTM_uc010sci.1_Nonsense_Mutation_p.E184*|NTM_uc010scj.1_Nonsense_Mutation_p.E143*|NTM_uc001qgo.2_Nonsense_Mutation_p.E184*|NTM_uc001qgq.2_Nonsense_Mutation_p.E184*|NTM_uc001qgr.2_5'UTR	p.E184*	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			4	1214	+			184			Ig-like C2-type 2.		A0MTT2|Q6UXJ3|Q86VJ9	Nonsense_Mutation	SNP	ENST00000374786.1	37	c.550G>T	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176897	0.78564	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	.	.	.	5.62	5.62	0.85841	.	0.090416	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-23.1021	20.0185	0.97487	0.0:0.0:1.0:0.0	.	.	.	.	X	184;184;175;175;184;184;184	.	ENSP00000363916:E184X	E	+	1	0	NTM	131682816	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.180000	0.71981	2.809000	0.96659	0.467000	0.42956	GAA		0.493	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		10	51	1	0	7.48243e-07	0.006214	1.05445e-06	10	51				
CCND2	894	broad.mit.edu	37	12	4383338	4383338	+	Silent	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr12:4383338C>T	ENST00000261254.3	+	1	401	c.132C>T	c.(130-132)ttC>ttT	p.F44F	RP11-264F23.3_ENST00000539135.1_RNA|RP11-264F23.4_ENST00000537370.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	44	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			GCTCCTACTTCAAGTGCGTGC	0.652			T	IGL@	"""NHL,CLL"""																																		uc001qmo.2		NA		Dom	yes		12	12p13	894	T	cyclin D2			L	IGL@		NHL,CLL		0				haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1)	3						c.(130-132)TTC>TTT		cyclin D2							102.0	87.0	92.0					12																	4383338		2203	4300	6503	SO:0001819	synonymous_variant	894				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr12:4383338C>T	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"""G1/S-specific cyclin D2"""	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.132C>T	12.37:g.4383338C>T							p.F44F	NM_001759	NP_001750	P30279	CCND2_HUMAN	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		1	437	+			44			Cyclin N-terminal.		A8K531|Q13955|Q5U035	Silent	SNP	ENST00000261254.3	37	c.132C>T	CCDS8524.1																																																																																				0.652	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759		29	56	0	0	0	0.007291	0	29	56				
TAS2R30	259293	broad.mit.edu	37	12	11286256	11286256	+	Silent	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr12:11286256C>A	ENST00000539585.1	-	1	987	c.588G>T	c.(586-588)ctG>ctT	p.L196L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	196					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						AGATTAACAGCAGAAAAGATA	0.418																																							uc009zhs.1		NA																	0					0						c.(586-588)CTG>CTT		type 2 taste receptor member 30							198.0	212.0	207.0					12																	11286256		2203	4300	6503	SO:0001819	synonymous_variant	259293							g.chr12:11286256C>A	AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.588G>T	12.37:g.11286256C>A						PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.L196L	NM_001097643	NP_001091112					1	588	-								Q645X7	Silent	SNP	ENST00000539585.1	37	c.588G>T	CCDS53750.1																																																																																				0.418	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		57	179	1	0	2.30037e-20	0.00361	4.38987e-20	57	179				
KIAA1467	57613	broad.mit.edu	37	12	13208723	13208723	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr12:13208723G>T	ENST00000197268.8	+	2	396	c.276G>T	c.(274-276)caG>caT	p.Q92H		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	92						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GCCTGGAACAGAAGGCGGCCT	0.577																																							uc001rbi.2		NA																	0				central_nervous_system(2)|skin(1)	3						c.(274-276)CAG>CAT		hypothetical protein LOC57613							93.0	81.0	85.0					12																	13208723		2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13208723G>T	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.276G>T	12.37:g.13208723G>T	ENSP00000197268:p.Gln92His					KIAA1467_uc009zhx.1_RNA	p.Q92H	NM_020853	NP_065904	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	2	299	+		Prostate(47;0.184)	92					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.276G>T	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	g	17.92	3.507171	0.64410	.	.	ENSG00000084444	ENST00000197268	T	0.25579	1.79	5.33	2.46	0.29980	.	0.286201	0.34603	N	0.003832	T	0.30166	0.0756	L	0.57536	1.79	0.34553	D	0.711576	P	0.49358	0.923	P	0.50440	0.641	T	0.40869	-0.9540	10	0.56958	D	0.05	-19.5074	5.7285	0.18026	0.2225:0.1431:0.6344:0.0	.	92	A2RU67	K1467_HUMAN	H	92	ENSP00000197268:Q92H	ENSP00000197268:Q92H	Q	+	3	2	KIAA1467	13099990	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	1.836000	0.39191	0.608000	0.30000	0.598000	0.82781	CAG		0.577	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		28	66	1	0	1.75199e-13	0.007291	3.01658e-13	28	66				
RASSF8	11228	broad.mit.edu	37	12	26218312	26218312	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr12:26218312C>T	ENST00000405154.2	+	3	1184	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	RASSF8_ENST00000381352.3_Missense_Mutation_p.R329C|RASSF8_ENST00000541490.1_Missense_Mutation_p.R329C|RASSF8_ENST00000282884.9_Missense_Mutation_p.R329C|RASSF8_ENST00000542865.1_Missense_Mutation_p.R329C	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	329					signal transduction (GO:0007165)					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					AGCCACCAAACGCTTACAGGT	0.408																																							uc001rgx.2		NA																	0					0						c.(985-987)CGC>TGC		Ras association (RalGDS/AF-6) domain family							72.0	70.0	71.0					12																	26218312		2203	4300	6503	SO:0001583	missense	11228				signal transduction			g.chr12:26218312C>T	U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"""chromosome 12 open reading frame 2"""	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.985C>T	12.37:g.26218312C>T	ENSP00000384491:p.Arg329Cys					RASSF8_uc001rgy.2_Missense_Mutation_p.R329C|RASSF8_uc001rgz.2_Missense_Mutation_p.R329C|RASSF8_uc009zjd.1_Missense_Mutation_p.R329C|RASSF8_uc009zje.1_Missense_Mutation_p.R329C	p.R329C	NM_007211	NP_009142	Q8NHQ8	RASF8_HUMAN			3	1206	+	Colorectal(261;0.0847)		329					A8K1Z0|O95647|Q5SCI2|Q76KB6	Missense_Mutation	SNP	ENST00000405154.2	37	c.985C>T	CCDS53765.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177492	0.57692	.	.	ENSG00000123094	ENST00000381352;ENST00000405154;ENST00000542865;ENST00000541490;ENST00000282884	D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14	5.34	3.22	0.36961	.	0.053030	0.64402	D	0.000001	D	0.93726	0.7995	L	0.50333	1.59	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;P	0.65773	0.938;0.818	D	0.93812	0.7111	10	0.54805	T	0.06	-11.4725	14.3876	0.66956	0.3147:0.6853:0.0:0.0	.	329;329	Q8NHQ8-2;Q8NHQ8	.;RASF8_HUMAN	C	329	ENSP00000370756:R329C;ENSP00000384491:R329C;ENSP00000439839:R329C;ENSP00000443096:R329C;ENSP00000282884:R329C	ENSP00000282884:R329C	R	+	1	0	RASSF8	26109579	1.000000	0.71417	0.964000	0.40570	0.983000	0.72400	1.858000	0.39408	1.376000	0.46267	0.655000	0.94253	CGC		0.408	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2	NM_007211		21	54	0	0	0	0.002299	0	21	54				
DDX11	1663	broad.mit.edu	37	12	31242051	31242051	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr12:31242051A>T	ENST00000407793.2	+	7	1009	c.758A>T	c.(757-759)aAg>aTg	p.K253M	DDX11_ENST00000542838.1_Missense_Mutation_p.K253M|DDX11_ENST00000228264.6_Missense_Mutation_p.K227M|DDX11_ENST00000545668.1_Missense_Mutation_p.K253M|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Missense_Mutation_p.K253M	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	253	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCCTTTGGCAAGGATGTTCGG	0.537										Multiple Myeloma(12;0.14)																													uc001rjt.1		NA																	0				breast(3)	3						c.(757-759)AAG>ATG		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11							91.0	89.0	90.0					12																	31242051		2203	4300	6503	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31242051A>T	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.758A>T	12.37:g.31242051A>T	ENSP00000384703:p.Lys253Met	Multiple Myeloma(12;0.14)				DDX11_uc010sjw.1_Missense_Mutation_p.K253M|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.K253M|DDX11_uc001rjs.1_Missense_Mutation_p.K253M|DDX11_uc001rju.1_Translation_Start_Site|DDX11_uc001rjv.1_Missense_Mutation_p.K253M|DDX11_uc001rjw.1_Missense_Mutation_p.K227M|DDX11_uc001rjx.1_Translation_Start_Site|DDX11_uc009zjn.1_RNA	p.K253M	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN			7	1009	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		253			Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.758A>T	CCDS44856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.24|12.24	1.879257|1.879257	0.33162|0.33162	.|.	.|.	ENSG00000013573|ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000228264;ENST00000438391;ENST00000545668;ENST00000350437|ENST00000404673	T;T;T;T;T;T|.	0.39997|.	1.05;1.05;1.05;1.05;1.05;1.05|.	3.64|3.64	1.23|1.23	0.21249|0.21249	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);|.	0.279720|.	0.40302|.	N|.	0.001134|.	T|T	0.72439|0.72439	0.3460|0.3460	M|M	0.86420|0.86420	2.815|2.815	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.993;1.0;0.991;0.998|.	P;D;P;D|.	0.68192|.	0.905;0.956;0.847;0.922|.	T|T	0.69632|0.69632	-0.5093|-0.5093	10|6	0.62326|0.59425	D|D	0.03|0.04	.|.	6.3698|6.3698	0.21475|0.21475	0.7764:0.0:0.2236:0.0|0.7764:0.0:0.2236:0.0	.|.	253;253;253;253|.	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2|.	.;DDX11_HUMAN;.;.|.	M|H	253;253;227;224;253;253|7	ENSP00000443426:K253M;ENSP00000384703:K253M;ENSP00000228264:K227M;ENSP00000407646:K224M;ENSP00000440402:K253M;ENSP00000309965:K253M|.	ENSP00000228264:K227M|ENSP00000385471:Q7H	K|Q	+|+	2|3	0|2	DDX11|DDX11	31133318|31133318	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.130000|0.130000	0.20726|0.20726	2.637000|2.637000	0.46553|0.46553	0.064000|0.064000	0.16427|0.16427	0.414000|0.414000	0.27820|0.27820	AAG|CAA		0.537	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		20	43	0	0	0	0.002299	0	20	43				
BICD1	636	broad.mit.edu	37	12	32480553	32480553	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr12:32480553G>T	ENST00000281474.5	+	5	1267	c.1164G>T	c.(1162-1164)aaG>aaT	p.K388N	BICD1_ENST00000548411.1_Missense_Mutation_p.K388N	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	388					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGGAGCTCAAGGCTGAGCTGG	0.587																																							uc001rku.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(1162-1164)AAG>AAT		bicaudal D homolog 1 isoform 1							49.0	45.0	47.0					12																	32480553		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32480553G>T	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1164G>T	12.37:g.32480553G>T	ENSP00000281474:p.Lys388Asn					BICD1_uc001rkv.2_Missense_Mutation_p.K388N|BICD1_uc010skd.1_RNA	p.K388N	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		5	1245	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		388			Potential.		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.1164G>T	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	8.162	0.789672	0.16258	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.44482	0.92;0.92	5.32	1.36	0.22044	.	0.306287	0.36002	N	0.002850	T	0.23611	0.0571	L	0.36672	1.1	0.09310	N	1	B;B	0.27316	0.032;0.175	B;B	0.21917	0.025;0.037	T	0.09952	-1.0651	10	0.27785	T	0.31	.	1.3339	0.02141	0.261:0.1475:0.4401:0.1515	.	388;388	F8W113;Q96G01	.;BICD1_HUMAN	N	388	ENSP00000446793:K388N;ENSP00000281474:K388N	ENSP00000281474:K388N	K	+	3	2	BICD1	32371820	0.349000	0.24870	0.000000	0.03702	0.996000	0.88848	0.581000	0.23819	0.040000	0.15660	0.655000	0.94253	AAG		0.587	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		10	15	1	0	0.000442599	0.006214	0.000561525	10	15				
SYT10	341359	broad.mit.edu	37	12	33579232	33579232	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr12:33579232T>G	ENST00000228567.3	-	2	646	c.350A>C	c.(349-351)aAg>aCg	p.K117T	SYT10_ENST00000535526.1_5'UTR|SYT10_ENST00000567656.1_5'Flank	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	117					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTCATTTTCCTTAATTTCTTT	0.408																																							uc001rll.1		NA																	0				ovary(1)|skin(1)	2						c.(349-351)AAG>ACG		synaptotagmin X							123.0	124.0	123.0					12																	33579232		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33579232T>G	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.350A>C	12.37:g.33579232T>G	ENSP00000228567:p.Lys117Thr					SYT10_uc009zju.1_5'UTR	p.K117T	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN			2	647	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		117			Cytoplasmic (Potential).		Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.350A>C	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.994701	0.35226	.	.	ENSG00000110975	ENST00000228567	T	0.50548	0.74	4.1	4.1	0.47936	.	0.516745	0.15775	U	0.245234	T	0.36908	0.0984	L	0.44542	1.39	0.80722	D	1	B	0.12630	0.006	B	0.15484	0.013	T	0.14755	-1.0461	10	0.23302	T	0.38	.	8.822	0.35032	0.1678:0.0:0.0:0.8322	.	117	Q6XYQ8	SYT10_HUMAN	T	117	ENSP00000228567:K117T	ENSP00000228567:K117T	K	-	2	0	SYT10	33470499	1.000000	0.71417	0.979000	0.43373	0.960000	0.62799	3.666000	0.54540	2.081000	0.62600	0.533000	0.62120	AAG		0.408	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		13	87	0	0	0	0.001855	0	13	87				
C12orf40	283461	broad.mit.edu	37	12	40115022	40115022	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr12:40115022C>A	ENST00000324616.5	+	13	2082	c.1928C>A	c.(1927-1929)aCt>aAt	p.T643N		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	643										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GCAGATACCACTGGAGGGCAG	0.358																																							uc001rmc.2		NA																	0				ovary(6)	6						c.(1927-1929)ACT>AAT		hypothetical protein LOC283461							91.0	85.0	86.0					12																	40115022		1853	4107	5960	SO:0001583	missense	283461							g.chr12:40115022C>A	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1928C>A	12.37:g.40115022C>A	ENSP00000317671:p.Thr643Asn					C12orf40_uc009zjv.1_Intron	p.T643N	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN			13	2095	+			643					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.1928C>A	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731967	0.69189	.	.	ENSG00000180116	ENST00000324616	T	0.62364	0.03	4.79	4.79	0.61399	.	0.113064	0.39083	N	0.001465	T	0.69169	0.3081	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.72057	-0.4405	10	0.87932	D	0	.	14.0598	0.64793	0.0:1.0:0.0:0.0	.	643	Q86WS4	CL040_HUMAN	N	643	ENSP00000317671:T643N	ENSP00000317671:T643N	T	+	2	0	C12orf40	38401289	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.641000	0.54360	2.612000	0.88384	0.460000	0.39030	ACT		0.358	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		14	28	1	0	1.3612e-06	0.003163	1.89493e-06	14	28				
ADAMTS20	80070	broad.mit.edu	37	12	43847712	43847712	+	Silent	SNP	A	A	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr12:43847712A>T	ENST00000389420.3	-	12	1757	c.1758T>A	c.(1756-1758)ccT>ccA	p.P586P	ADAMTS20_ENST00000553158.1_Silent_p.P586P	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	586	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGACATACTCAGGACGATTAC	0.423																																							uc010skx.1		NA																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(1756-1758)CCT>CCA		a disintegrin-like and metalloprotease with							83.0	67.0	73.0					12																	43847712		2203	4299	6502	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43847712A>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1758T>A	12.37:g.43847712A>T							p.P586P	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	12	1758	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	586			TSP type-1 1.		A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.1758T>A	CCDS31778.2																																																																																				0.423	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		3	10	0	0	0	0.004672	0	3	10				
IRAK4	51135	broad.mit.edu	37	12	44161952	44161952	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr12:44161952G>T	ENST00000448290.2	+	2	109	c.38G>T	c.(37-39)tGc>tTc	p.C13F	IRAK4_ENST00000431837.1_5'UTR|IRAK4_ENST00000440781.2_Intron|IRAK4_ENST00000551736.1_Missense_Mutation_p.C13F	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	13					cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TATGTGCGCTGCCTCAATGTT	0.343																																							uc001rnu.3		NA																	0					0						c.(37-39)TGC>TTC		interleukin-1 receptor-associated kinase 4							81.0	80.0	81.0					12																	44161952		2203	4300	6503	SO:0001583	missense	51135				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44161952G>T	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.38G>T	12.37:g.44161952G>T	ENSP00000390651:p.Cys13Phe					IRAK4_uc001rnt.3_Missense_Mutation_p.C13F|IRAK4_uc001rnx.3_5'UTR|IRAK4_uc001rny.3_5'UTR|IRAK4_uc010sky.1_Intron|IRAK4_uc001rnv.3_5'UTR|IRAK4_uc001rnw.3_5'UTR	p.C13F	NM_001114182	NP_001107654	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	3	168	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	13					Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	c.38G>T	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126553	0.37533	.	.	ENSG00000198001	ENST00000550616;ENST00000448290;ENST00000551736;ENST00000356669	T;T;T	0.64438	-0.1;-0.1;-0.1	5.5	2.55	0.30701	DEATH-like (2);	0.336851	0.38778	N	0.001570	T	0.44953	0.1318	N	0.25647	0.755	0.80722	D	1	B	0.14012	0.009	B	0.08055	0.003	T	0.27773	-1.0064	10	0.54805	T	0.06	-0.872	7.6382	0.28277	0.1384:0.2536:0.6081:0.0	.	13	Q9NWZ3	IRAK4_HUMAN	F	13	ENSP00000446571:C13F;ENSP00000390651:C13F;ENSP00000446490:C13F	ENSP00000349096:C13F	C	+	2	0	IRAK4	42448219	1.000000	0.71417	0.998000	0.56505	0.877000	0.50540	0.828000	0.27435	0.320000	0.23234	0.650000	0.86243	TGC		0.343	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			4	16	1	0	0.00024832	0.000248	0.000318573	4	16				
NELL2	4753	broad.mit.edu	37	12	44915854	44915854	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr12:44915854G>T	ENST00000429094.2	-	18	2608	c.2104C>A	c.(2104-2106)Cat>Aat	p.H702N	NELL2_ENST00000333837.4_Missense_Mutation_p.H725N|NELL2_ENST00000549027.1_Missense_Mutation_p.H701N|NELL2_ENST00000452445.2_Missense_Mutation_p.H702N|NELL2_ENST00000551601.1_Missense_Mutation_p.H654N|NELL2_ENST00000437801.2_Missense_Mutation_p.H752N|NELL2_ENST00000395487.2_Missense_Mutation_p.H701N	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	702	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CCATTTTGATGGAGGCACTGA	0.453																																							uc001rog.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(2104-2106)CAT>AAT		NEL-like protein 2 isoform b precursor							129.0	116.0	121.0					12																	44915854		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:44915854G>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2104C>A	12.37:g.44915854G>T	ENSP00000390680:p.His702Asn					NELL2_uc001rof.3_Missense_Mutation_p.H701N|NELL2_uc001roh.2_Missense_Mutation_p.H702N|NELL2_uc009zkd.2_Missense_Mutation_p.H654N|NELL2_uc010skz.1_Missense_Mutation_p.H752N|NELL2_uc010sla.1_Missense_Mutation_p.H725N	p.H702N	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	18	2699	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	702			VWFC 4.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.2104C>A	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746060	0.69418	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.6	4.71	0.59529	von Willebrand factor, type C (2);	0.000000	0.85682	D	0.000000	T	0.82135	0.4971	M	0.83012	2.62	0.50313	D	0.999865	P;D;D;D;D	0.76494	0.826;0.974;0.998;0.999;0.974	B;P;D;D;P	0.81914	0.294;0.879;0.991;0.995;0.837	T	0.81799	-0.0767	10	0.27785	T	0.31	-10.9969	16.6095	0.84879	0.0:0.1302:0.8698:0.0	.	725;752;654;702;701	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	N	701;702;654;702;701;725;752	ENSP00000378866:H701N;ENSP00000390680:H702N;ENSP00000449332:H654N;ENSP00000394612:H702N;ENSP00000447927:H701N;ENSP00000327988:H725N;ENSP00000416341:H752N	ENSP00000327988:H725N	H	-	1	0	NELL2	43202121	1.000000	0.71417	0.986000	0.45419	0.978000	0.69477	4.674000	0.61612	1.350000	0.45770	0.650000	0.86243	CAT		0.453	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		7	28	1	0	1.26484e-09	0.00308	1.96373e-09	7	28				
KRT6B	3854	broad.mit.edu	37	12	52845777	52845777	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr12:52845777C>A	ENST00000252252.3	-	1	133	c.86G>T	c.(85-87)aGc>aTc	p.S29I		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	29	Head.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GCCAGAGCGGCTGACCCCAGG	0.647																																							uc001sak.2		NA																	0				ovary(2)	2						c.(85-87)AGC>ATC		keratin 6B							18.0	22.0	21.0					12																	52845777		2180	4264	6444	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52845777C>A	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.86G>T	12.37:g.52845777C>A	ENSP00000252252:p.Ser29Ile						p.S29I	NM_005555	NP_005546	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	1	134	-			29			Head.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.86G>T	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.608106	0.28623	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.81908	-1.55	3.07	-1.11	0.09840	.	1.985890	0.01959	N	0.043208	T	0.80486	0.4632	M	0.67953	2.075	0.09310	N	0.999997	B	0.17465	0.022	B	0.14023	0.01	T	0.59500	-0.7443	10	0.56958	D	0.05	.	4.9243	0.13885	0.0:0.4846:0.1457:0.3697	.	29	P04259	K2C6B_HUMAN	I	29	ENSP00000252252:S29I	ENSP00000252252:S29I	S	-	2	0	KRT6B	51132044	0.000000	0.05858	0.033000	0.17914	0.887000	0.51463	-1.052000	0.03503	-0.233000	0.09797	0.298000	0.19748	AGC		0.647	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		22	32	1	0	4.22769e-11	0.00632	6.79398e-11	22	32				
PCBP2	5094	broad.mit.edu	37	12	53853102	53853102	+	Missense_Mutation	SNP	C	C	T	rs111807426		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr12:53853102C>T	ENST00000439930.3	+	5	312	c.290C>T	c.(289-291)cCg>cTg	p.P97L	PCBP2_ENST00000603815.1_Missense_Mutation_p.P97L|PCBP2_ENST00000549863.1_Missense_Mutation_p.P97L|PCBP2_ENST00000548933.1_Missense_Mutation_p.P97L|PCBP2_ENST00000546463.1_Missense_Mutation_p.P97L|PCBP2_ENST00000541275.1_Missense_Mutation_p.P97L|PCBP2_ENST00000552296.2_Missense_Mutation_p.P97L|PCBP2_ENST00000447282.1_Missense_Mutation_p.P97L|PCBP2_ENST00000359462.5_Missense_Mutation_p.P97L|PCBP2_ENST00000359282.5_Missense_Mutation_p.P97L|PCBP2_ENST00000455667.3_Missense_Mutation_p.P97L|PCBP2_ENST00000437231.1_Missense_Mutation_p.P97L|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000552819.1_Missense_Mutation_p.P97L			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	97	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)	p.P97L(2)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						AGTAGACCCCCGGTCACCCTG	0.488																																							uc001sdl.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(289-291)CCG>CTG		poly(rC) binding protein 2 isoform d							115.0	113.0	113.0					12																	53853102		2203	4300	6503	SO:0001583	missense	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53853102C>T	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.290C>T	12.37:g.53853102C>T	ENSP00000408949:p.Pro97Leu					PCBP2_uc001sdc.3_Missense_Mutation_p.P97L|PCBP2_uc001sdb.3_Missense_Mutation_p.P97L|PCBP2_uc001sde.3_Missense_Mutation_p.P97L|PCBP2_uc001sdi.3_Missense_Mutation_p.P97L|PCBP2_uc001sdd.3_Missense_Mutation_p.P97L|PCBP2_uc001sdf.3_Missense_Mutation_p.P97L|PCBP2_uc009zna.2_Missense_Mutation_p.P58L|PCBP2_uc010soh.1_Missense_Mutation_p.P97L|PCBP2_uc009zmz.1_Missense_Mutation_p.P39L|PCBP2_uc001sdg.1_RNA	p.P97L	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN			6	640	+			97			KH 2.		A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	ENST00000439930.3	37	c.290C>T	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126840	0.56721	.	.	ENSG00000197111	ENST00000541275;ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000551104;ENST00000550520;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000546652;ENST00000379777	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63913	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;-0.07;1.01;1.01;1.01;1.01;1.01	5.01	4.11	0.48088	K Homology (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.68339	0.2990	M	0.90369	3.11	0.80722	D	1	B;B;B;B;B;B;B;B;B	0.32283	0.362;0.094;0.055;0.065;0.198;0.054;0.065;0.055;0.015	B;B;B;B;B;B;B;B;B	0.30105	0.059;0.111;0.067;0.029;0.095;0.05;0.044;0.067;0.022	T	0.73694	-0.3902	10	0.62326	D	0.03	.	14.3628	0.66785	0.0:0.8503:0.1496:0.0	.	97;58;97;97;97;97;97;97;97	B4DLC0;F8VRG9;Q15366;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;.;PCBP2_HUMAN;.;.;.;.;.;.	L	97;97;97;97;97;97;97;39;97;97;89;97;58;97;97;97;78;59	ENSP00000446130:P97L;ENSP00000352228:P97L;ENSP00000394116:P97L;ENSP00000390304:P97L;ENSP00000408949:P97L;ENSP00000447670:P97L;ENSP00000352438:P97L;ENSP00000448762:P97L;ENSP00000446601:P97L;ENSP00000448847:P89L;ENSP00000448927:P97L;ENSP00000449070:P97L;ENSP00000388008:P97L;ENSP00000449062:P97L	ENSP00000352228:P97L	P	+	2	0	PCBP2	52139369	1.000000	0.71417	0.998000	0.56505	0.744000	0.42396	5.769000	0.68865	1.302000	0.44855	0.655000	0.94253	CCG		0.488	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		23	63	0	0	0	0.00333	0	23	63				
INHBC	3626	broad.mit.edu	37	12	57843451	57843451	+	Silent	SNP	A	A	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr12:57843451A>T	ENST00000309668.2	+	2	832	c.705A>T	c.(703-705)cgA>cgT	p.R235R		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	235					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						AGATTCACCGACGAGGCATCG	0.582																																							uc001snv.1		NA																	0					0						c.(703-705)CGA>CGT		inhibin beta C chain preproprotein							85.0	78.0	80.0					12																	57843451		2203	4300	6503	SO:0001819	synonymous_variant	3626				growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding	g.chr12:57843451A>T		CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.705A>T	12.37:g.57843451A>T							p.R235R	NM_005538	NP_005529	P55103	INHBC_HUMAN			2	832	+			235					A1L3Y2	Silent	SNP	ENST00000309668.2	37	c.705A>T	CCDS8938.1																																																																																				0.582	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406770.1	NM_005538		11	24	0	0	0	0.000978	0	11	24				
BEST3	144453	broad.mit.edu	37	12	70049315	70049315	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr12:70049315G>T	ENST00000330891.5	-	10	1605	c.1379C>A	c.(1378-1380)cCc>cAc	p.P460H	BEST3_ENST00000553096.1_Missense_Mutation_p.P354H|BEST3_ENST00000488961.1_Missense_Mutation_p.P247H|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	460					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTGCAGCGTGGGGCTTCCTTC	0.592																																							uc001svg.2		NA																	0					0						c.(1378-1380)CCC>CAC		vitelliform macular dystrophy 2-like 3 isoform							89.0	92.0	91.0					12																	70049315		1985	4156	6141	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70049315G>T	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1379C>A	12.37:g.70049315G>T	ENSP00000332413:p.Pro460His					BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.P247H|BEST3_uc010stm.1_Missense_Mutation_p.P354H	p.P460H	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1606	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		460			Cytoplasmic (Potential).		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.1379C>A	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	G	10.39	1.338303	0.24253	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.98012	-4.34;-4.66;-4.63	5.37	5.37	0.77165	.	0.636822	0.16176	N	0.226074	D	0.96018	0.8703	M	0.63428	1.95	0.80722	D	1	P;D	0.55172	0.8;0.97	B;B	0.44163	0.319;0.443	D	0.94057	0.7323	10	0.39692	T	0.17	-23.5137	7.8776	0.29603	0.0858:0.1636:0.7506:0.0	.	460;247	Q8N1M1;B5MDI8	BEST3_HUMAN;.	H	247;460;354	ENSP00000433213:P247H;ENSP00000332413:P460H;ENSP00000449548:P354H	ENSP00000332413:P460H	P	-	2	0	BEST3	68335582	0.027000	0.19231	0.998000	0.56505	0.031000	0.12232	0.437000	0.21543	2.503000	0.84419	0.467000	0.42956	CCC		0.592	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		18	44	1	0	5.03518e-11	0.007413	8.00734e-11	18	44				
SPATA13	221178	broad.mit.edu	37	13	24876744	24876744	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr13:24876744A>T	ENST00000382095.4	+	12	2199	c.1792A>T	c.(1792-1794)Agg>Tgg	p.R598W	SPATA13_ENST00000399949.2_Missense_Mutation_p.R520W|SPATA13_ENST00000424834.2_Missense_Mutation_p.R1223W|SPATA13_ENST00000409126.1_Missense_Mutation_p.R458W|RP11-307N16.6_ENST00000382141.4_Intron|SPATA13_ENST00000382108.3_Missense_Mutation_p.R1223W|SPATA13_ENST00000343003.6_Missense_Mutation_p.R542W	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	598	C-terminal tail.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		AGGCTACAACAGGTGCCCTGT	0.582																																							uc001upg.1		NA																	0				skin(2)|ovary(1)	3						c.(1792-1794)AGG>TGG		spermatogenesis associated 13							76.0	75.0	75.0					13																	24876744		2203	4300	6503	SO:0001583	missense	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24876744A>T	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.1792A>T	13.37:g.24876744A>T	ENSP00000371527:p.Arg598Trp					SPATA13_uc001upd.1_Missense_Mutation_p.R1223W|C1QTNF9_uc001upe.2_Intron|SPATA13_uc010tcy.1_Missense_Mutation_p.Q545L|SPATA13_uc010tcz.1_Missense_Mutation_p.R482W|SPATA13_uc010tda.1_Missense_Mutation_p.R542W|SPATA13_uc001uph.2_Missense_Mutation_p.R520W|SPATA13_uc010tdb.1_Missense_Mutation_p.R458W|SPATA13_uc009zzz.1_Missense_Mutation_p.Q155L	p.R598W	NM_153023	NP_694568	Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	12	2199	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	598			C-terminal tail.		A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	ENST00000382095.4	37	c.1792A>T	CCDS9305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.492|8.492	0.862327|0.862327	0.17178|0.17178	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000424834;ENST00000438694|ENST00000382108;ENST00000382095;ENST00000434675;ENST00000399949;ENST00000409126;ENST00000343003	.|T;T;T;T;T;T	.|0.35973	.|1.28;1.28;1.28;1.28;1.28;1.28	5.83|5.83	3.05|3.05	0.35203|0.35203	.|.	.|0.366568	.|0.30771	.|N	.|0.008909	T|T	0.34135|0.34135	0.0887|0.0887	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B|B;P;B;P;P	0.19200|0.43352	0.034|0.097;0.804;0.027;0.617;0.483	B|B;P;B;B;B	0.18871|0.52267	0.023|0.014;0.694;0.01;0.181;0.375	T|T	0.12041|0.12041	-1.0563|-1.0563	7|10	.|0.87932	.|D	.|0	.|.	8.1358|8.1358	0.31054|0.31054	0.3085:0.0:0.6915:0.0|0.3085:0.0:0.6915:0.0	.|.	545|458;542;482;520;598	Q96N96-4|E9PFR9;Q96N96-3;Q96N96-5;Q96N96-2;Q96N96	.|.;.;.;.;SPT13_HUMAN	L|W	1260;545|1223;598;496;520;458;542	.|ENSP00000371542:R1223W;ENSP00000371527:R598W;ENSP00000401605:R496W;ENSP00000382830:R520W;ENSP00000386471:R458W;ENSP00000343631:R542W	.|ENSP00000343631:R542W	Q|R	+|+	2|1	0|2	SPATA13|SPATA13	23774744|23774744	1.000000|1.000000	0.71417|0.71417	0.001000|0.001000	0.08648|0.08648	0.043000|0.043000	0.13939|0.13939	3.723000|3.723000	0.54955|0.54955	0.370000|0.370000	0.24538|0.24538	-0.177000|-0.177000	0.13119|0.13119	CAG|AGG		0.582	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		20	85	0	0	0	0.00278	0	20	85				
HTR2A	3356	broad.mit.edu	37	13	47409077	47409077	+	Silent	SNP	C	C	T	rs143205112		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr13:47409077C>T	ENST00000378688.4	-	3	1442	c.1311G>A	c.(1309-1311)aaG>aaA	p.K437K	HTR2A_ENST00000542664.1_Silent_p.K437K|HTR2A_ENST00000543956.1_Silent_p.K353K			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	437					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TATCTGTTGTCTTGGCATCTT	0.413																																							uc001vbq.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(1309-1311)AAG>AAA		5-hydroxytryptamine receptor 2A isoform 1	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	C	,	0,4406		0,0,2203	187.0	178.0	181.0		1311,1059	4.0	0.0	13	dbSNP_134	181	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	HTR2A	NM_000621.3,NM_001165947.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	437/472,353/388	47409077	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47409077C>T	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.1311G>A	13.37:g.47409077C>T						HTR2A_uc001vbr.2_Silent_p.K337K|HTR2A_uc010acr.2_Silent_p.K437K	p.K437K	NM_000621	NP_000612	P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	3	1445	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	437			Cytoplasmic (By similarity).		B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Silent	SNP	ENST00000378688.4	37	c.1311G>A	CCDS9405.1																																																																																				0.413	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		14	84	0	0	0	0.00245	0	14	84				
ATP7B	540	broad.mit.edu	37	13	52513211	52513211	+	Silent	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr13:52513211C>T	ENST00000242839.4	-	17	3831	c.3675G>A	c.(3673-3675)aaG>aaA	p.K1225K	ATP7B_ENST00000417240.2_Silent_p.K436K|ATP7B_ENST00000400366.3_Silent_p.K1114K|ATP7B_ENST00000482841.1_5'Flank|ATP7B_ENST00000400370.3_Silent_p.K795K|ATP7B_ENST00000448424.2_Silent_p.K1147K|ATP7B_ENST00000418097.2_Silent_p.K1160K|ATP7B_ENST00000344297.5_Silent_p.K1018K	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1225					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CTCTGGCTGTCTTCCGGTTGT	0.542									Wilson disease																														uc001vfw.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3673-3675)AAG>AAA		ATPase, Cu++ transporting, beta polypeptide							115.0	120.0	118.0					13																	52513211		2102	4238	6340	SO:0001819	synonymous_variant	540	Wilson_disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52513211C>T	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3675G>A	13.37:g.52513211C>T						ATP7B_uc010adv.2_Silent_p.K795K|ATP7B_uc001vfx.2_Silent_p.K1018K|ATP7B_uc001vfy.2_Silent_p.K1114K|ATP7B_uc010tgt.1_Silent_p.K1160K|ATP7B_uc010tgu.1_Silent_p.K1177K|ATP7B_uc010tgv.1_Silent_p.K1147K|ATP7B_uc001vfv.2_Silent_p.K497K|ATP7B_uc010tgs.1_Silent_p.K436K	p.K1225K	NM_000053	NP_000044	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	17	3832	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	1225			Cytoplasmic (Potential).		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	ENST00000242839.4	37	c.3675G>A	CCDS41892.1																																																																																				0.542	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		48	67	0	0	0	0.00361	0	48	67				
KLHL1	57626	broad.mit.edu	37	13	70681438	70681438	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr13:70681438C>T	ENST00000377844.4	-	1	1153	c.394G>A	c.(394-396)Ggc>Agc	p.G132S	ATXN8OS_ENST00000424524.1_RNA|ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	132					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AAGTCCATGCCTGGCACCACC	0.582																																							uc001vip.2		NA																	0					0						c.(394-396)GGC>AGC		kelch-like 1 protein							103.0	83.0	90.0					13																	70681438		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681438C>T	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.394G>A	13.37:g.70681438C>T	ENSP00000367075:p.Gly132Ser					KLHL1_uc010thm.1_Missense_Mutation_p.G132S|ATXN8OS_uc010aej.1_RNA	p.G132S	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	1	1188	-		Breast(118;0.000162)	132					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.394G>A	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163295	0.38217	.	.	ENSG00000150361	ENST00000377844	T	0.72505	-0.66	5.29	4.44	0.53790	.	1.001260	0.08058	N	0.997749	T	0.54695	0.1874	N	0.08118	0	0.80722	D	1	B;B	0.11235	0.004;0.001	B;B	0.04013	0.001;0.001	T	0.20240	-1.0281	10	0.32370	T	0.25	.	14.1084	0.65107	0.0:0.8395:0.1605:0.0	.	132;132	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	S	132	ENSP00000367075:G132S	ENSP00000367075:G132S	G	-	1	0	KLHL1	69579439	0.982000	0.34865	0.950000	0.38849	0.964000	0.63967	2.505000	0.45424	1.207000	0.43291	0.655000	0.94253	GGC		0.582	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		45	59	0	0	0	0.003214	0	45	59				
MYCBP2	23077	broad.mit.edu	37	13	77900726	77900726	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr13:77900726C>A	ENST00000544440.2	-	1	88	c.71G>T	c.(70-72)gGt>gTt	p.G24V	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G24V|MYCBP2_ENST00000407578.2_Missense_Mutation_p.G62V					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTGGTAGTGACCCCGGGAGTC	0.726																																							uc001vkf.2		NA																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(70-72)GGT>GTT		MYC binding protein 2							10.0	13.0	12.0					13																	77900726		2187	4281	6468	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77900726C>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.71G>T	13.37:g.77900726C>A	ENSP00000444596:p.Gly24Val					MYCBP2_uc010aev.2_5'UTR	p.G24V	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	2	162	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	24						Missense_Mutation	SNP	ENST00000544440.2	37	c.71G>T		.	.	.	.	.	.	.	.	.	.	C	15.77	2.931574	0.52866	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.27557	1.67;1.66;1.67	4.11	4.11	0.48088	.	0.172677	0.40064	N	0.001182	T	0.16557	0.0398	N	0.08118	0	0.51233	D	0.999919	B	0.24186	0.099	B	0.21708	0.036	T	0.06935	-1.0799	10	0.56958	D	0.05	.	11.2666	0.49114	0.0:0.8148:0.1852:0.0	.	24	O75592	MYCB2_HUMAN	V	24;62;24	ENSP00000349892:G24V;ENSP00000384288:G62V;ENSP00000444596:G24V	ENSP00000349892:G24V	G	-	2	0	MYCBP2	76798727	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.038000	0.49783	2.119000	0.64992	0.563000	0.77884	GGT		0.726	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		4	13	1	0	2.56e-06	0.000248	3.47917e-06	4	13				
SLITRK1	114798	broad.mit.edu	37	13	84454234	84454234	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr13:84454234A>T	ENST00000377084.2	-	1	2294	c.1409T>A	c.(1408-1410)aTg>aAg	p.M470K		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	470					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CAGTTTGGGCATGGCATTGAA	0.557																																							uc001vlk.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1408-1410)ATG>AAG		slit and trk like 1 protein precursor							75.0	69.0	71.0					13																	84454234		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454234A>T	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1409T>A	13.37:g.84454234A>T	ENSP00000366288:p.Met470Lys						p.M470K	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2295	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	470			Extracellular (Potential).		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.1409T>A	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.349047	0.61183	.	.	ENSG00000178235	ENST00000377084	T	0.59083	0.29	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.77850	0.4192	M	0.89214	3.015	0.80722	D	1	D	0.64830	0.994	D	0.64144	0.922	T	0.82822	-0.0267	10	0.87932	D	0	-18.6145	14.208	0.65746	1.0:0.0:0.0:0.0	.	470	Q96PX8	SLIK1_HUMAN	K	470	ENSP00000366288:M470K	ENSP00000366288:M470K	M	-	2	0	SLITRK1	83352235	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.104000	0.64026	0.533000	0.62120	ATG		0.557	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		5	44	0	0	0	0.000602	0	5	44				
GPC6	10082	broad.mit.edu	37	13	94679996	94679996	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr13:94679996C>A	ENST00000377047.4	+	4	1340	c.725C>A	c.(724-726)cCa>cAa	p.P242Q	RNA5SP35_ENST00000391257.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	242					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				AGCCCAACCCCAGGGTGTATC	0.453																																							uc001vlt.2		NA																	0					0						c.(724-726)CCA>CAA		glypican 6 precursor							114.0	110.0	111.0					13																	94679996		2203	4300	6503	SO:0001583	missense	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:94679996C>A	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.725C>A	13.37:g.94679996C>A	ENSP00000366246:p.Pro242Gln					GPC6_uc010tig.1_Missense_Mutation_p.P242Q	p.P242Q	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN			4	1357	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	242					A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	c.725C>A	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910663	0.72983	.	.	ENSG00000183098	ENST00000377047	T	0.49432	0.78	6.02	6.02	0.97574	.	0.066887	0.64402	D	0.000010	T	0.55178	0.1904	M	0.66439	2.03	0.53005	D	0.99996	P;B	0.37466	0.596;0.443	B;B	0.42319	0.383;0.223	T	0.46176	-0.9210	10	0.25751	T	0.34	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	242;242	B4E2M1;Q9Y625	.;GPC6_HUMAN	Q	242	ENSP00000366246:P242Q	ENSP00000366246:P242Q	P	+	2	0	GPC6	93477997	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.788000	0.85771	2.865000	0.98341	0.655000	0.94253	CCA		0.453	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		15	108	1	0	1.35283e-19	0.004007	2.56031e-19	15	108				
NALCN	259232	broad.mit.edu	37	13	101728231	101728232	+	Missense_Mutation	DNP	CC	CC	GA			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr13:101728231_101728232CC>GA	ENST00000251127.6	-	35	4027_4028	c.3946_3947GG>TC	c.(3946-3948)GGa>TCa	p.G1316S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1316					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TACATGTTTTCCACAGATGGAG	0.322																																							uc001vox.1		NA																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(3946-3948)GGA>TCA		voltage gated channel like 1																																				SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101728231_101728232CC>GA	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3946_3947delinsGA	13.37:g.101728231_101728232delinsGA	ENSP00000251127:p.Gly1316Ser						p.G1316S	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			35	4135_4136	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1316			Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	DNP	ENST00000251127.6	37	c.3946_3947GG>TC	CCDS9498.1																																																																																				0.322	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		25	36	0	0	0	0.004672	0	25	36				
POTEG	404785	broad.mit.edu	37	14	19553735	19553735	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr14:19553735C>T	ENST00000409832.3	+	1	371	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	107										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CCACTGCTTCCCCTGCTGCAG	0.602																																							uc001vuz.1		NA																	0				ovary(1)	1						c.(319-321)CCC>TCC		POTE ankyrin domain family, member G							191.0	213.0	206.0					14																	19553735		2196	4294	6490	SO:0001583	missense	404785							g.chr14:19553735C>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.319C>T	14.37:g.19553735C>T	ENSP00000386971:p.Pro107Ser					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.P107S	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	371	+			107					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.319C>T	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	c	2.298	-0.360900	0.05103	.	.	ENSG00000222036	ENST00000409832	T	0.27720	1.65	0.568	-1.14	0.09741	.	.	.	.	.	T	0.26048	0.0635	L	0.59436	1.845	0.09310	N	1	B	0.30146	0.27	B	0.32465	0.146	T	0.26815	-1.0092	8	0.46703	T	0.11	.	.	.	.	.	107	Q6S5H5	POTEG_HUMAN	S	107	ENSP00000386971:P107S	ENSP00000386971:P107S	P	+	1	0	POTEG	18623735	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.366000	0.07563	-0.670000	0.05282	-0.817000	0.03123	CCC		0.602	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		58	718	0	0	0	0.00361	0	58	718				
TEP1	7011	broad.mit.edu	37	14	20859156	20859156	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr14:20859156C>A	ENST00000262715.5	-	14	2237	c.2197G>T	c.(2197-2199)Gtg>Ttg	p.V733L	TEP1_ENST00000556935.1_Missense_Mutation_p.V625L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	733					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)		GCCTTAAGCACTGCAGTCTTC	0.537																																							uc001vxe.2		NA																	0				ovary(5)	5						c.(2197-2199)GTG>TTG		telomerase-associated protein 1							142.0	117.0	125.0					14																	20859156		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.chr14:20859156C>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.2197G>T	14.37:g.20859156C>A	ENSP00000262715:p.Val733Leu					TEP1_uc010ahk.2_Missense_Mutation_p.V83L|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.V625L	p.V733L	NM_007110	NP_009041	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)	14	2237	-	all_cancers(95;0.00123)	all_lung(585;0.235)	733					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.2197G>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	2.205	-0.382026	0.04966	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.48836	0.82;0.8	5.56	3.73	0.42828	.	0.473101	0.22077	N	0.064949	T	0.42607	0.1210	L	0.60455	1.87	0.09310	N	0.999995	B;B;B	0.31817	0.004;0.341;0.002	B;B;B	0.35971	0.004;0.215;0.002	T	0.29912	-0.9996	10	0.31617	T	0.26	-1.2156	7.2998	0.26413	0.1664:0.7477:0.0:0.086	.	625;83;733	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	L	733;733;625	ENSP00000262715:V733L;ENSP00000452574:V625L	ENSP00000262715:V733L	V	-	1	0	TEP1	19928996	0.002000	0.14202	0.001000	0.08648	0.103000	0.19146	1.413000	0.34725	0.695000	0.31675	0.655000	0.94253	GTG		0.537	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		14	74	1	0	4.14922e-12	0.004007	6.8853e-12	14	74				
MYH7	4625	broad.mit.edu	37	14	23887558	23887558	+	Silent	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr14:23887558G>T	ENST00000355349.3	-	30	4192	c.4030C>A	c.(4030-4032)Cgg>Agg	p.R1344R	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1344					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TACTGCTCCCGCAGCAGGTCG	0.662																																							uc001wjx.2		NA																	0				ovary(3)|skin(1)	4						c.(4030-4032)CGG>AGG		myosin, heavy chain 7, cardiac muscle, beta							48.0	45.0	46.0					14																	23887558		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887558G>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4030C>A	14.37:g.23887558G>T						MIR208B_hsa-mir-208b|MI0005570_5'Flank	p.R1344R	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4136	-	all_cancers(95;2.54e-05)		1344			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4030C>A	CCDS9601.1																																																																																				0.662	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		8	56	1	0	5.18039e-06	0.00308	6.91726e-06	8	56				
PYGL	5836	broad.mit.edu	37	14	51401905	51401905	+	Splice_Site	SNP	T	T	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr14:51401905T>A	ENST00000216392.7	-	3	678		c.e3-2		PYGL_ENST00000532462.1_Splice_Site|PYGL_ENST00000544180.2_Splice_Site	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver						5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	CAATCCAAGCTGGTAATGAAA	0.418																																							uc001wyu.2		NA																	0				skin(1)	1						c.e3-1		liver glycogen phosphorylase isoform 1	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						104.0	89.0	95.0					14																	51401905		2203	4300	6503	SO:0001630	splice_region_variant	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51401905T>A		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.346-2A>T	14.37:g.51401905T>A						PYGL_uc010tqq.1_Splice_Site_p.L82_splice|PYGL_uc001wyv.2_Splice_Site|PYGL_uc001wyw.3_Splice_Site_p.L116_splice	p.L116_splice	NM_002863	NP_002854	P06737	PYGL_HUMAN			3	473	-	all_epithelial(31;0.00825)|Breast(41;0.148)							A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Splice_Site	SNP	ENST00000216392.7	37	c.346_splice	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	T	15.65	2.895135	0.52121	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.288	0.73843	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PYGL	50471655	1.000000	0.71417	0.979000	0.43373	0.418000	0.31294	7.373000	0.79623	2.257000	0.74773	0.454000	0.30748	.		0.418	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863	Intron	14	17	0	0	0	0.001855	0	14	17				
ZFP36L1	677	broad.mit.edu	37	14	69256753	69256753	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr14:69256753G>A	ENST00000439696.2	-	2	815	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.R172C|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	172					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R172C(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AAGTGGCAGCGGGGCCCGTAG	0.667											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001xkh.1		NA																	1	Substitution - Missense(1)		liver(1)	ovary(1)	1						c.(514-516)CGC>TGC		butyrate response factor 1							33.0	40.0	38.0					14																	69256753		2203	4297	6500	SO:0001583	missense	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256753G>A	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.514C>T	14.37:g.69256753G>A	ENSP00000388402:p.Arg172Cys		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_uc001xki.1_Missense_Mutation_p.R172C	p.R172C	NM_004926	NP_004917	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	644	-			172			C3H1-type 2.		Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.514C>T	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414524	0.83449	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246;ENST00000557086;ENST00000557022	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	4.5	4.5	0.54988	Zinc finger, CCCH-type (3);	0.066167	0.64402	D	0.000009	T	0.80989	0.4730	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87573	0.2479	10	0.87932	D	0	-8.9854	17.372	0.87381	0.0:0.0:1.0:0.0	.	172	Q07352	TISB_HUMAN	C	172;172;155;178;150	ENSP00000388402:R172C;ENSP00000337386:R172C;ENSP00000450784:R178C;ENSP00000450600:R150C	ENSP00000337386:R172C	R	-	1	0	ZFP36L1	68326506	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.598000	0.98277	2.316000	0.78162	0.585000	0.79938	CGC		0.667	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			15	74	0	0	0	0.003163	0	15	74				
PCNX	22990	broad.mit.edu	37	14	71555084	71555084	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr14:71555084T>G	ENST00000304743.2	+	29	5821	c.5375T>G	c.(5374-5376)cTc>cGc	p.L1792R	PCNX_ENST00000238570.5_Missense_Mutation_p.L1720R|PCNX_ENST00000439984.3_Missense_Mutation_p.L1681R	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1792						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTAGTGACTCTCTGTTATGGA	0.393																																							uc001xmo.2		NA																	0				ovary(1)	1						c.(5374-5376)CTC>CGC		pecanex-like 1							151.0	129.0	137.0					14																	71555084		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71555084T>G	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.5375T>G	14.37:g.71555084T>G	ENSP00000304192:p.Leu1792Arg					PCNX_uc010are.1_Missense_Mutation_p.L1681R|PCNX_uc010arf.1_Missense_Mutation_p.L580R	p.L1792R	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	29	5821	+			1792					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.5375T>G	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.8|25.8	4.675454|4.675454	0.88445|0.88445	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.60171|.	0.21;0.21;0.21|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.057336|.	0.64402|.	D|.	0.000002|.	D|D	0.83422|0.83422	0.5251|0.5251	M|M	0.90019|0.90019	3.08|3.08	0.41360|0.41360	D|D	0.987428|0.987428	D;P;P|.	0.89917|.	1.0;0.917;0.943|.	D;P;P|.	0.87578|.	0.998;0.837;0.884|.	D|D	0.87167|0.87167	0.2218|0.2218	10|5	0.87932|.	D|.	0|.	.|.	15.3318|15.3318	0.74219|0.74219	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1720;1681;1792|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	R|A	1792;1720;1681|779	ENSP00000304192:L1792R;ENSP00000238570:L1720R;ENSP00000396617:L1681R|.	ENSP00000238570:L1720R|.	L|S	+|+	2|1	0|0	PCNX|PCNX	70624837|70624837	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.326000|7.326000	0.79133|0.79133	2.214000|2.214000	0.71695|0.71695	0.528000|0.528000	0.53228|0.53228	CTC|TCT		0.393	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		45	29	0	0	0	0.00361	0	45	29				
YLPM1	56252	broad.mit.edu	37	14	75279466	75279466	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr14:75279466G>T	ENST00000552421.1	+	10	3489	c.3365G>T	c.(3364-3366)cGg>cTg	p.R1122L	YLPM1_ENST00000325680.7_Missense_Mutation_p.R1828L|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1633L			P49750	YLPM1_HUMAN	YLP motif containing 1	1633	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCACCGGGCCGGGAGAGCAGA	0.473																																							uc001xqj.3		NA																	0				ovary(2)|pancreas(1)	3						c.(5482-5484)CGG>CTG		YLP motif containing 1							35.0	36.0	36.0					14																	75279466		1916	4140	6056	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75279466G>T	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.3365G>T	14.37:g.75279466G>T	ENSP00000447921:p.Arg1122Leu					YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Missense_Mutation_p.R311L	p.R1828L	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	11	5607	+			1633					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.5483G>T		.	.	.	.	.	.	.	.	.	.	G	33	5.221833	0.95139	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	.	.	.	5.89	5.89	0.94794	.	0.000000	0.53938	D	0.000060	T	0.68888	0.3050	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.83275	0.996;0.986	T	0.70483	-0.4859	9	0.87932	D	0	-4.6652	18.447	0.90688	0.0:0.0:1.0:0.0	.	1633;1828	P49750-3;P49750-4	.;.	L	1122;1828;1633;1541;237	.	ENSP00000238571:R1633L	R	+	2	0	YLPM1	74349219	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.435000	0.90297	2.796000	0.96246	0.650000	0.86243	CGG		0.473	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		8	8	1	0	0.000157383	0.00308	0.000203047	8	8				
CEP128	145508	broad.mit.edu	37	14	81371171	81371171	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr14:81371171C>T	ENST00000555265.1	-	6	841	c.466G>A	c.(466-468)Gat>Aat	p.D156N	CEP128_ENST00000281129.3_Missense_Mutation_p.D156N|CEP128_ENST00000216517.6_Missense_Mutation_p.D156N|CEP128_ENST00000327841.2_Missense_Mutation_p.D96N			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	156						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GTCATATCATCAGTCTCTTGA	0.393																																							uc001xux.2		NA																	0					0						c.(466-468)GAT>AAT		hypothetical protein LOC145508							160.0	145.0	150.0					14																	81371171		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81371171C>T	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.466G>A	14.37:g.81371171C>T	ENSP00000451162:p.Asp156Asn					C14orf145_uc001xuz.2_Missense_Mutation_p.D156N|C14orf145_uc001xva.1_Missense_Mutation_p.D156N|C14orf145_uc001xuy.1_Missense_Mutation_p.D14N	p.D156N	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0586)	5	637	-			156					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.466G>A	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.611411	0.28712	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517;ENST00000327841;ENST00000555529	T;T;T;T	0.52526	1.25;1.25;0.66;0.75	5.82	5.82	0.92795	.	0.640355	0.15567	N	0.255648	T	0.43100	0.1232	N	0.19112	0.55	0.24104	N	0.995868	B;P;P	0.37330	0.17;0.59;0.59	B;B;B	0.43728	0.046;0.429;0.313	T	0.38023	-0.9680	10	0.32370	T	0.25	.	17.0105	0.86405	0.0:1.0:0.0:0.0	.	156;37;156	Q6ZU80-3;Q8N3Z7;Q6ZU80	.;.;CE128_HUMAN	N	156;156;156;156;96;156	ENSP00000281129:D156N;ENSP00000451162:D156N;ENSP00000216517:D156N;ENSP00000451137:D156N	ENSP00000216517:D156N	D	-	1	0	CEP128	80440924	0.650000	0.27331	0.037000	0.18230	0.028000	0.11728	2.533000	0.45667	2.757000	0.94681	0.585000	0.79938	GAT		0.393	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		36	41	0	0	0	0.004878	0	36	41				
EML5	161436	broad.mit.edu	37	14	89205241	89205241	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr14:89205241T>C	ENST00000380664.5	-	6	828	c.829A>G	c.(829-831)Aca>Gca	p.T277A	EML5_ENST00000352093.5_Missense_Mutation_p.T277A|EML5_ENST00000554922.1_Missense_Mutation_p.T277A			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	277						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCTGGTCTGTTTCCCTGAGA	0.363																																							uc001xxg.2		NA																	0				ovary(3)	3						c.(829-831)ACA>GCA		echinoderm microtubule associated protein like							73.0	65.0	68.0					14																	89205241		1848	4101	5949	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89205241T>C	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.829A>G	14.37:g.89205241T>C	ENSP00000370039:p.Thr277Ala						p.T277A	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			7	1015	-			277					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.829A>G	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.778524	0.49786	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.01304	5.03;5.03;5.03	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.01661	0.0053	L	0.35723	1.085	0.58432	D	0.999991	B	0.11235	0.004	B	0.08055	0.003	T	0.51601	-0.8685	10	0.07990	T	0.79	-16.2954	15.5946	0.76569	0.0:0.0:0.0:1.0	.	277	Q05BV3	EMAL5_HUMAN	A	277	ENSP00000451998:T277A;ENSP00000298315:T277A;ENSP00000370039:T277A	ENSP00000298315:T277A	T	-	1	0	EML5	88274994	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.970000	0.70431	2.091000	0.63221	0.454000	0.30748	ACA		0.363	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			5	11	0	0	0	0.000602	0	5	11				
VRK1	7443	broad.mit.edu	37	14	97321607	97321607	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr14:97321607G>T	ENST00000216639.3	+	8	772	c.623G>T	c.(622-624)gGa>gTa	p.G208V		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Golgi disassembly (GO:0090166)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-T3 phosphorylation (GO:0072355)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi stack (GO:0005795)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H3-S10 specific) (GO:0035175)|histone kinase activity (H3-T3 specific) (GO:0072354)|nucleosomal histone binding (GO:0031493)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		TGCCCAGAAGGAGTTCATAAA	0.408																																							uc001yft.2		NA																	0				large_intestine(1)|stomach(1)	2						c.(622-624)GGA>GTA		vaccinia related kinase 1							180.0	171.0	174.0					14																	97321607		2203	4300	6503	SO:0001583	missense	7443					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:97321607G>T	AB000449	CCDS9947.1	14q32.2	2012-07-05			ENSG00000100749	ENSG00000100749			12718	protein-coding gene	gene with protein product		602168				9344656	Standard	XM_006720247		Approved		uc001yft.3	Q99986	OTTHUMG00000171459	ENST00000216639.3:c.623G>T	14.37:g.97321607G>T	ENSP00000216639:p.Gly208Val						p.G208V	NM_003384	NP_003375	Q99986	VRK1_HUMAN		COAD - Colon adenocarcinoma(157;0.234)	8	729	+		Melanoma(154;0.155)	208			Protein kinase.		Q3SYL2	Missense_Mutation	SNP	ENST00000216639.3	37	c.623G>T	CCDS9947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.150213|5.150213	0.94645|0.94645	.|.	.|.	ENSG00000100749|ENSG00000100749	ENST00000216639|ENST00000557222	T|.	0.12361|.	2.69|.	5.95|5.95	5.95|5.95	0.96441|0.96441	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.148969|.	0.64402|.	D|.	0.000012|.	D|D	0.84561|0.84561	0.5499|0.5499	M|M	0.86740|0.86740	2.835|2.835	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	D|D	0.85132|0.85132	0.0975|0.0975	10|5	0.59425|.	D|.	0.04|.	-27.7123|-27.7123	20.3697|20.3697	0.98890|0.98890	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	208|.	Q99986|.	VRK1_HUMAN|.	V|S	208|64	ENSP00000216639:G208V|.	ENSP00000216639:G208V|.	G|R	+|+	2|3	0|2	VRK1|VRK1	96391360|96391360	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.989000|0.989000	0.77384|0.77384	9.864000|9.864000	0.99589|0.99589	2.811000|2.811000	0.96726|0.96726	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.408	VRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413520.1	NM_003384		10	86	1	0	1.33987e-11	0.008291	2.19165e-11	10	86				
HHIPL1	84439	broad.mit.edu	37	14	100129283	100129283	+	Missense_Mutation	SNP	G	G	T	rs142621182		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr14:100129283G>T	ENST00000330710.5	+	6	1671	c.1573G>T	c.(1573-1575)Ggc>Tgc	p.G525C	HHIPL1_ENST00000357223.2_Missense_Mutation_p.G525C	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	525					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CATGGGCCACGGCCAGACCTG	0.582																																							uc010avs.2		NA																	0				skin(2)	2						c.(1573-1575)GGC>TGC		HHIP-like protein 1 isoform a							110.0	92.0	98.0					14																	100129283		2203	4300	6503	SO:0001583	missense	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100129283G>T	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.1573G>T	14.37:g.100129283G>T	ENSP00000330601:p.Gly525Cys					HHIPL1_uc001ygl.1_Missense_Mutation_p.G525C	p.G525C	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN			6	1638	+		Melanoma(154;0.128)	525					A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	c.1573G>T	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633894	0.87660	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.12039	2.72;2.72	4.87	4.87	0.63330	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.973	T	0.34477	-0.9827	10	0.72032	D	0.01	.	18.0427	0.89323	0.0:0.0:1.0:0.0	.	525;525	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	C	525	ENSP00000330601:G525C;ENSP00000349757:G525C	ENSP00000330601:G525C	G	+	1	0	HHIPL1	99199036	1.000000	0.71417	0.959000	0.39883	0.855000	0.48748	9.813000	0.99286	2.267000	0.75376	0.655000	0.94253	GGC		0.582	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		17	60	1	0	3.52763e-06	0.00499	4.76594e-06	17	60				
SNRPN	6638	broad.mit.edu	37	15	25221464	25221464	+	Silent	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr15:25221464G>T	ENST00000400100.1	+	9	1058	c.168G>T	c.(166-168)gcG>gcT	p.A56A	SNRPN_ENST00000554227.2_Silent_p.A60A|SNRPN_ENST00000577565.1_Silent_p.A56A|SNRPN_ENST00000390687.4_Silent_p.A56A|SNRPN_ENST00000400098.1_Silent_p.A56A|SNRPN_ENST00000444203.2_Silent_p.A60A|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400097.1_Silent_p.A56A|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000346403.6_Silent_p.A56A	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	56					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CAAAGAATGCGAAGCAACCAG	0.423									Prader-Willi syndrome																														uc001ywp.1		NA																	0				ovary(1)	1						c.(166-168)GCG>GCT		small nuclear ribonucleoprotein polypeptide N							78.0	82.0	81.0					15																	25221464		1894	4107	6001	SO:0001819	synonymous_variant	6638	Prader-Willsyndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25221464G>T	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.168G>T	15.37:g.25221464G>T						SNRPN_uc001ywq.1_Silent_p.A56A|SNRPN_uc001ywr.1_Silent_p.A56A|SNRPN_uc001yws.1_Silent_p.A56A|SNRPN_uc001ywt.1_Silent_p.A56A|SNRPN_uc001ywv.1_Silent_p.A59A|SNRPN_uc001yww.1_Silent_p.A56A|SNRPN_uc001ywx.1_Silent_p.A56A|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	p.A56A	NM_022807	NP_073718	P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	9	1058	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	56					B3KVR1|P14648|P17135|Q0D2Q5	Silent	SNP	ENST00000400100.1	37	c.168G>T	CCDS10017.1																																																																																				0.423	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		11	35	1	0	3.07112e-06	0.000978	4.16145e-06	11	35				
HERC2	8924	broad.mit.edu	37	15	28465650	28465650	+	Silent	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr15:28465650C>T	ENST00000261609.7	-	37	5901	c.5793G>A	c.(5791-5793)ctG>ctA	p.L1931L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGCAGCCGGCAGCTCTGCCA	0.562																																							uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(5791-5793)CTG>CTA		hect domain and RLD 2							127.0	122.0	124.0					15																	28465650		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28465650C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5793G>A	15.37:g.28465650C>T							p.L1931L	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	37	5899	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1931			MIB/HERC2.			Silent	SNP	ENST00000261609.7	37	c.5793G>A	CCDS10021.1																																																																																				0.562	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		40	122	0	0	0	0.00874	0	40	122				
TRPM1	4308	broad.mit.edu	37	15	31324973	31324973	+	Silent	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr15:31324973G>T	ENST00000256552.6	-	22	3018	c.2871C>A	c.(2869-2871)atC>atA	p.I957I	RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Silent_p.I974I|TRPM1_ENST00000397795.2_Silent_p.I935I	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACCAGAAGATGATATCCACAC	0.483																																							uc001zfm.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2803-2805)ATC>ATA		transient receptor potential cation channel,							145.0	140.0	142.0					15																	31324973		1988	4165	6153	SO:0001819	synonymous_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31324973G>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2871C>A	15.37:g.31324973G>T						TRPM1_uc010azy.2_Silent_p.I842I|TRPM1_uc001zfl.2_RNA	p.I935I	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	21	2933	-		all_lung(180;1.92e-11)	935			Helical; (Potential).			Silent	SNP	ENST00000256552.6	37	c.2805C>A	CCDS58346.1																																																																																				0.483	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		26	53	1	0	4.43304e-23	0.00632	8.6397e-23	26	53				
TRPM1	4308	broad.mit.edu	37	15	31339443	31339443	+	Silent	SNP	C	C	A	rs201426913		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr15:31339443C>A	ENST00000256552.6	-	15	1782	c.1635G>T	c.(1633-1635)ccG>ccT	p.P545P	TRPM1_ENST00000542188.1_Silent_p.P562P|TRPM1_ENST00000397795.2_Silent_p.P523P	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGTAATCAGGCGGAAGGTTGC	0.547																																							uc001zfm.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1567-1569)CCG>CCT		transient receptor potential cation channel,							78.0	77.0	77.0					15																	31339443		1996	4175	6171	SO:0001819	synonymous_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31339443C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1635G>T	15.37:g.31339443C>A						TRPM1_uc010azy.2_Silent_p.P430P|TRPM1_uc001zfl.2_RNA	p.P523P	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	14	1697	-		all_lung(180;1.92e-11)	523			Extracellular (Potential).			Silent	SNP	ENST00000256552.6	37	c.1569G>T	CCDS58346.1																																																																																				0.547	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		8	39	1	0	5.18039e-06	0.00308	6.91726e-06	8	39				
AVEN	57099	broad.mit.edu	37	15	34295248	34295248	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr15:34295248G>T	ENST00000306730.3	-	2	559	c.430C>A	c.(430-432)Ctc>Atc	p.L144I	CHRM5_ENST00000383263.5_Intron	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	144					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	intracellular (GO:0005622)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		GAGCTAAGGAGGACACTGAAA	0.353																																							uc001zhj.2		NA																	0				kidney(1)	1						c.(430-432)CTC>ATC		cell death regulator aven							176.0	152.0	160.0					15																	34295248		2201	4298	6499	SO:0001583	missense	57099				anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding	g.chr15:34295248G>T	AF283508	CCDS10030.1	15q13.1	2011-10-19		2008-07-07	ENSG00000169857	ENSG00000169857			13509	protein-coding gene	gene with protein product	"""cell death regulator aven"", ""programmed cell death 12"""	605265				10949025	Standard	XM_005254563		Approved	PDCD12	uc001zhj.3	Q9NQS1	OTTHUMG00000129371	ENST00000306730.3:c.430C>A	15.37:g.34295248G>T	ENSP00000306822:p.Leu144Ile					CHRM5_uc001zhk.1_Intron	p.L144I	NM_020371	NP_065104	Q9NQS1	AVEN_HUMAN		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)	2	486	-		all_lung(180;1.78e-08)	144						Missense_Mutation	SNP	ENST00000306730.3	37	c.430C>A	CCDS10030.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414494	0.62511	.	.	ENSG00000169857	ENST00000306730	T	0.66460	-0.21	4.71	3.78	0.43462	.	0.000000	0.64402	D	0.000001	T	0.76615	0.4012	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.77616	-0.2521	10	0.87932	D	0	-7.1725	9.4822	0.38908	0.0812:0.1469:0.7719:0.0	.	144	Q9NQS1	AVEN_HUMAN	I	144	ENSP00000306822:L144I	ENSP00000306822:L144I	L	-	1	0	AVEN	32082540	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.941000	0.56607	1.175000	0.42826	0.591000	0.81541	CTC		0.353	AVEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251523.2	NM_020371		10	33	1	0	2.61681e-11	0.00245	4.25e-11	10	33				
DISP2	85455	broad.mit.edu	37	15	40657403	40657403	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr15:40657403G>A	ENST00000267889.3	+	6	862	c.775G>A	c.(775-777)Gct>Act	p.A259T		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	259					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCAGGAGAGCGCTGTCCGGCC	0.597																																							uc001zlk.1		NA																	0				ovary(2)	2						c.(775-777)GCT>ACT		dispatched B							61.0	66.0	64.0					15																	40657403		2203	4300	6503	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40657403G>A	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.775G>A	15.37:g.40657403G>A	ENSP00000267889:p.Ala259Thr						p.A259T	NM_033510	NP_277045	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	6	864	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	259					Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.775G>A	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	G	4.286	0.052321	0.08291	.	.	ENSG00000140323	ENST00000267889	T	0.11821	2.74	4.33	-8.66	0.00866	.	0.925502	0.08989	N	0.864647	T	0.05410	0.0143	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.35500	-0.9786	10	0.24483	T	0.36	-0.6328	6.1582	0.20350	0.1029:0.2714:0.5297:0.096	.	259	A7MBM2	DISP2_HUMAN	T	259	ENSP00000267889:A259T	ENSP00000267889:A259T	A	+	1	0	DISP2	38444695	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	-0.721000	0.04963	-2.095000	0.00853	-2.010000	0.00438	GCT		0.597	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		13	68	0	0	0	0.001368	0	13	68				
RPAP1	26015	broad.mit.edu	37	15	41828728	41828728	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr15:41828728G>C	ENST00000304330.4	-	3	417	c.301C>G	c.(301-303)Cac>Gac	p.H101D	RPAP1_ENST00000561603.1_Missense_Mutation_p.H101D	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	101						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCAGTGATGTGCTGATCATGC	0.547																																							uc001zod.2		NA																	0				large_intestine(1)	1						c.(301-303)CAC>GAC		RNA polymerase II associated protein 1							109.0	99.0	102.0					15																	41828728		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41828728G>C	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.301C>G	15.37:g.41828728G>C	ENSP00000306123:p.His101Asp						p.H101D	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	3	425	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	101					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.301C>G	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897795	0.91962	.	.	ENSG00000103932	ENST00000304330	T	0.50277	0.75	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.68348	0.2991	L	0.61218	1.895	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.69146	-0.5222	10	0.87932	D	0	-24.0486	18.9148	0.92501	0.0:0.0:1.0:0.0	.	101	Q9BWH6	RPAP1_HUMAN	D	101	ENSP00000306123:H101D	ENSP00000306123:H101D	H	-	1	0	RPAP1	39616020	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.071000	0.93980	2.760000	0.94817	0.591000	0.81541	CAC		0.547	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		11	60	0	0	0	0.001368	0	11	60				
GOLGA6B	55889	broad.mit.edu	37	15	72954779	72954779	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr15:72954779T>A	ENST00000421285.3	+	11	1034	c.1034T>A	c.(1033-1035)aTg>aAg	p.M345K	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	345						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						CAGGAGGAGATGCTCCGAGAG	0.557																																							uc010uks.1		NA																	0					0						c.(1033-1035)ATG>AAG		golgi autoantigen, golgin subfamily a, 6B							61.0	62.0	62.0					15																	72954779		2063	3872	5935	SO:0001583	missense	55889							g.chr15:72954779T>A		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1034T>A	15.37:g.72954779T>A	ENSP00000408132:p.Met345Lys						p.M345K	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN			11	1075	+			345			Potential.		A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	c.1034T>A	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	0.538	-0.854853	0.02630	.	.	ENSG00000215186	ENST00000421285	T	0.20069	2.1	.	.	.	.	.	.	.	.	T	0.04724	0.0128	N	0.01352	-0.895	0.19945	N	0.999945	B	0.11235	0.004	B	0.04013	0.001	T	0.40021	-0.9585	8	0.06365	T	0.9	.	2.6549	0.05010	0.0:0.4931:0.0:0.5069	.	345	A6NDN3	GOG6B_HUMAN	K	345	ENSP00000408132:M345K	ENSP00000408132:M345K	M	+	2	0	GOLGA6B	70741833	0.003000	0.15002	0.137000	0.22149	0.204000	0.24138	-1.687000	0.01927	0.077000	0.16863	0.076000	0.15429	ATG		0.557	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		95	145	0	0	0	0.00361	0	95	145				
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr15:76074470A>G	ENST00000395215.3	+	0	649				RN7SL319P_ENST00000480656.2_RNA														p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577																																							uc010umm.1		NA																	4	Substitution - Missense(4)		kidney(3)|endometrium(1)		NA						c.(571-573)CAG>CGG		SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																																						0							g.chr15:76074470A>G																													15.37:g.76074470A>G						uc002bba.1_5'Flank	p.Q191R							8	649	+									Missense_Mutation	SNP	ENST00000395215.3	37	c.572A>G		.	.	.	.	.	.	.	.	.	.	.	3.199	-0.164202	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.40222	0.1108	.	.	.	.	.	.	D	0.54964	0.969	P	0.57101	0.813	T	0.45101	-0.9284	6	0.19147	T	0.46	.	2.915	0.05750	0.5938:0.0:0.0:0.4062	.	203	B4DZE6	.	R	203	.	ENSP00000378641:Q203R	Q	+	2	0	AC019294.2	73861525	0.996000	0.38824	0.003000	0.11579	0.003000	0.03518	0.808000	0.27154	0.620000	0.30215	0.228000	0.17796	CAG		0.577	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			5	35	0	0	0	0.008291	0	5	35				
BNC1	646	broad.mit.edu	37	15	83932483	83932483	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr15:83932483A>T	ENST00000345382.2	-	4	1605	c.1520T>A	c.(1519-1521)aTa>aAa	p.I507K	BNC1_ENST00000569704.1_Missense_Mutation_p.I500K|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	507					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GGAAGGGAGTATCCCAGGCGT	0.517																																							uc002bjt.1		NA																	0				ovary(3)	3						c.(1519-1521)ATA>AAA		basonuclin 1							85.0	74.0	78.0					15																	83932483		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83932483A>T	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1520T>A	15.37:g.83932483A>T	ENSP00000307041:p.Ile507Lys					BNC1_uc010uos.1_Missense_Mutation_p.I495K	p.I507K	NM_001717	NP_001708	Q01954	BNC1_HUMAN			4	1608	-			507					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.1520T>A	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	A	10.95	1.494809	0.26774	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.41065	1.01	5.51	1.69	0.24217	.	0.515173	0.22821	N	0.055235	T	0.21801	0.0525	N	0.22421	0.69	0.09310	N	1	B;B	0.19817	0.039;0.001	B;B	0.20955	0.032;0.005	T	0.23368	-1.0190	10	0.09084	T	0.74	-1.3238	6.0662	0.19864	0.3953:0.4901:0.1145:0.0	.	500;507	F5GY04;Q01954	.;BNC1_HUMAN	K	507;500	ENSP00000307041:I507K	ENSP00000307041:I507K	I	-	2	0	BNC1	81723487	0.002000	0.14202	0.635000	0.29338	0.969000	0.65631	1.037000	0.30241	0.341000	0.23771	0.533000	0.62120	ATA		0.517	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		18	44	0	0	0	0.007413	0	18	44				
ACAN	176	broad.mit.edu	37	15	89400503	89400503	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr15:89400503G>C	ENST00000561243.1	+	11	4687	c.4687G>C	c.(4687-4689)Ggg>Cgg	p.G1563R	ACAN_ENST00000439576.2_Missense_Mutation_p.G1563R|ACAN_ENST00000559004.1_Missense_Mutation_p.G1563R|ACAN_ENST00000352105.7_Missense_Mutation_p.G1563R			P16112	PGCA_HUMAN	aggrecan	1597	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TTCTGAAGTAGGGACTGACCT	0.512																																							uc010upo.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(4687-4689)GGG>CGG		aggrecan isoform 2 precursor							51.0	53.0	52.0					15																	89400503		1848	4097	5945	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400503G>C	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4687G>C	15.37:g.89400503G>C	ENSP00000453342:p.Gly1563Arg					ACAN_uc010upp.1_Missense_Mutation_p.G1563R|ACAN_uc002bna.2_RNA	p.G1563R	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	5061	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1563					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.4687G>C	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159154	0.38119	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.95821	-3.82;-3.82	4.47	3.52	0.40303	.	0.805385	0.10139	N	0.711121	D	0.95781	0.8627	L	0.34521	1.04	0.09310	N	1	D;D	0.76494	0.996;0.999	D;D	0.73380	0.943;0.98	D	0.89430	0.3716	10	0.29301	T	0.29	-5.9602	13.6819	0.62491	0.0:0.1559:0.8441:0.0	.	1563;1563	E7ENV9;E7EX88	.;.	R	1563;1563;1449	ENSP00000387356:G1563R;ENSP00000341615:G1563R	ENSP00000268134:G1449R	G	+	1	0	ACAN	87201507	0.273000	0.24181	0.010000	0.14722	0.547000	0.35210	2.792000	0.47837	1.181000	0.42912	0.655000	0.94253	GGG		0.512	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		41	43	0	0	0	0.005524	0	41	43				
ABCC6P1	653190	broad.mit.edu	37	16	18603969	18603969	+	RNA	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr16:18603969G>A	ENST00000546162.2	+	0	1312					NR_003569.1				ATP-binding cassette, sub-family C, member 6 pseudogene 1 (functional)																		TTGAGCAGCAGAACATGTACA	0.587																																							uc002dfg.2		NA																	0					0						c.(934-936)CAG>CAA		SubName: Full=cDNA FLJ51267, highly similar to Multidrug resistance-associated protein 6;																																						653190							g.chr16:18603969G>A	BC075833		16p12.3	2014-09-11	2014-05-09		ENSG00000256340	ENSG00000256340		"""-"""	33352	pseudogene	pseudogene			"""ATP-binding cassette, sub-family C, member 6 pseudogene 1"""			18405356, 22873774	Standard	NR_003569		Approved		uc002dfg.3		OTTHUMG00000177192		16.37:g.18603969G>A						ABCC6P1_uc010vam.1_Silent_p.Q255Q	p.Q312Q	NR_003569						9	1136	+									Silent	SNP	ENST00000546162.2	37	c.936G>A																																																																																					0.587	ABCC6P1-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435772.2	NR_003569		9	28	0	0	0	0.006214	0	9	28				
ACSM3	6296	broad.mit.edu	37	16	20781403	20781403	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr16:20781403T>C	ENST00000289416.5	+	2	522	c.47T>C	c.(46-48)tTt>tCt	p.F16S	ACSM3_ENST00000450120.2_5'Flank|ACSM3_ENST00000440284.2_Missense_Mutation_p.F16S	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	16					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						GCCAAGTGTTTTCAGCGCCTA	0.448																																							uc002dhr.2		NA																	0				ovary(1)	1						c.(46-48)TTT>TCT		SA hypertension-associated homolog isoform 1							155.0	130.0	139.0					16																	20781403		2201	4300	6501	SO:0001583	missense	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20781403T>C	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.47T>C	16.37:g.20781403T>C	ENSP00000289416:p.Phe16Ser					ACSM3_uc002dhq.2_Missense_Mutation_p.F16S|ACSM3_uc010vba.1_Missense_Mutation_p.F8S	p.F16S	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN			2	234	+			16					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	c.47T>C	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	T	8.704	0.910336	0.17833	.	.	ENSG00000005187	ENST00000289416;ENST00000440284	T;T	0.48201	0.82;1.55	5.81	2.24	0.28232	.	0.382752	0.27315	N	0.019927	T	0.22551	0.0544	N	0.08118	0	0.21386	N	0.999708	B;B	0.28128	0.201;0.053	B;B	0.24701	0.055;0.013	T	0.16719	-1.0393	10	0.20046	T	0.44	-2.7736	8.1384	0.31069	0.0:0.0677:0.2501:0.6823	.	16;16	Q53FZ2;Q53FZ2-2	ACSM3_HUMAN;.	S	16	ENSP00000289416:F16S;ENSP00000394565:F16S	ENSP00000289416:F16S	F	+	2	0	ACSM3	20688904	0.000000	0.05858	0.494000	0.27515	0.016000	0.09150	0.561000	0.23515	0.445000	0.26639	-0.258000	0.10820	TTT		0.448	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		80	47	0	0	0	0.00361	0	80	47				
DNAH3	55567	broad.mit.edu	37	16	20990777	20990777	+	Missense_Mutation	SNP	G	G	T	rs574123353	byFrequency	TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr16:20990777G>T	ENST00000261383.3	-	50	7950	c.7951C>A	c.(7951-7953)Ccc>Acc	p.P2651T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2651					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TAGGAGGTGGGGGTAACATAG	0.478													G|||	8	0.00159744	0.0	0.0	5008	,	,		21444	0.0		0.0	False		,,,				2504	0.0082						uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(7951-7953)CCC>ACC		dynein, axonemal, heavy chain 3							190.0	163.0	172.0					16																	20990777		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20990777G>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7951C>A	16.37:g.20990777G>T	ENSP00000261383:p.Pro2651Thr					DNAH3_uc010vbd.1_Missense_Mutation_p.P86T	p.P2651T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	50	7951	-			2651					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.7951C>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927183	0.92389	.	.	ENSG00000158486	ENST00000261383	T	0.58506	0.33	6.06	6.06	0.98353	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	D	0.86426	0.5930	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90358	0.4371	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	2651	Q8TD57	DYH3_HUMAN	T	2651	ENSP00000261383:P2651T	ENSP00000261383:P2651T	P	-	1	0	DNAH3	20898278	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.796000	0.99103	2.880000	0.98712	0.650000	0.86243	CCC		0.478	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		21	78	1	0	1.87028e-06	0.001882	2.57234e-06	21	78				
ASPHD1	253982	broad.mit.edu	37	16	29912884	29912884	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr16:29912884G>T	ENST00000308748.5	+	1	844	c.592G>T	c.(592-594)Gcc>Tcc	p.A198S	SEZ6L2_ENST00000350527.3_5'Flank|SEZ6L2_ENST00000537485.1_5'Flank|SEZ6L2_ENST00000346932.5_5'Flank|SEZ6L2_ENST00000308713.5_5'Flank|ASPHD1_ENST00000483405.1_5'UTR	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	198					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CCTGCCTTCAGCCCCCTTTGT	0.667																																							uc002dut.2		NA																	0					0						c.(592-594)GCC>TCC		aspartate beta-hydroxylase domain containing 1							59.0	63.0	62.0					16																	29912884		2175	4259	6434	SO:0001583	missense	253982				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr16:29912884G>T	AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.592G>T	16.37:g.29912884G>T	ENSP00000311447:p.Ala198Ser					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_5'Flank|SEZ6L2_uc002dur.3_5'Flank|SEZ6L2_uc002duq.3_5'Flank|SEZ6L2_uc002dus.3_5'Flank|SEZ6L2_uc010vec.1_5'Flank|SEZ6L2_uc010ved.1_5'Flank|ASPHD1_uc002duu.3_RNA|ASPHD1_uc010bzi.2_RNA	p.A198S	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN			1	738	+			198			Lumenal (Potential).		A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Missense_Mutation	SNP	ENST00000308748.5	37	c.592G>T	CCDS10660.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940365	0.34283	.	.	ENSG00000174939	ENST00000414952;ENST00000308748	T;T	0.48201	0.82;0.82	5.21	0.932	0.19466	.	0.969086	0.08501	N	0.936504	T	0.27900	0.0687	N	0.24115	0.695	0.09310	N	1	B	0.27882	0.192	B	0.26310	0.068	T	0.24154	-1.0168	10	0.15499	T	0.54	-0.0219	3.9891	0.09529	0.233:0.0:0.4716:0.2953	.	198	Q5U4P2	ASPH1_HUMAN	S	198	ENSP00000388036:A198S;ENSP00000311447:A198S	ENSP00000311447:A198S	A	+	1	0	ASPHD1	29820385	0.000000	0.05858	0.001000	0.08648	0.945000	0.59286	0.601000	0.24119	0.053000	0.16036	-0.309000	0.09137	GCC		0.667	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255163.2	NM_181718		62	66	1	0	7.73544e-29	0.00361	1.53369e-28	62	66				
ABCC11	85320	broad.mit.edu	37	16	48249175	48249175	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr16:48249175T>A	ENST00000394747.1	-	7	1381	c.1032A>T	c.(1030-1032)gaA>gaT	p.E344D	ABCC11_ENST00000356608.2_Missense_Mutation_p.E344D|ABCC11_ENST00000394748.1_Missense_Mutation_p.E344D|ABCC11_ENST00000537808.1_Missense_Mutation_p.E344D|ABCC11_ENST00000353782.5_Missense_Mutation_p.E344D	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	344	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AAGTGAGAACTTCACTGGTCA	0.448																																							uc002eff.1		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1030-1032)GAA>GAT		ATP-binding cassette, sub-family C, member 11							145.0	139.0	141.0					16																	48249175		2201	4300	6501	SO:0001583	missense	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48249175T>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1032A>T	16.37:g.48249175T>A	ENSP00000378230:p.Glu344Asp					ABCC11_uc002efg.1_Missense_Mutation_p.E344D|ABCC11_uc002efh.1_Missense_Mutation_p.E344D|ABCC11_uc010vgk.1_RNA	p.E344D	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			7	1382	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	344			ABC transmembrane type-1 1.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.1032A>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.383473	0.61845	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68;-3.68	5.23	-0.237	0.13061	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95815	0.8638	M	0.75264	2.295	0.39437	D	0.967172	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.991	D	0.94172	0.7424	10	0.87932	D	0	-17.7165	8.5731	0.33581	0.0:0.4337:0.0:0.5663	.	344;344	Q96J66-2;Q96J66	.;ABCCB_HUMAN	D	344	ENSP00000311326:E344D;ENSP00000349017:E344D;ENSP00000378231:E344D;ENSP00000378230:E344D;ENSP00000438530:E344D	ENSP00000311326:E344D	E	-	3	2	ABCC11	46806676	0.561000	0.26578	0.283000	0.24790	0.511000	0.34104	-0.065000	0.11617	0.049000	0.15920	-0.417000	0.06048	GAA		0.448	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		6	64	0	0	0	0.001168	0	6	64				
ABCC11	85320	broad.mit.edu	37	16	48249177	48249177	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr16:48249177C>A	ENST00000394747.1	-	7	1379	c.1030G>T	c.(1030-1032)Gaa>Taa	p.E344*	ABCC11_ENST00000356608.2_Nonsense_Mutation_p.E344*|ABCC11_ENST00000394748.1_Nonsense_Mutation_p.E344*|ABCC11_ENST00000537808.1_Nonsense_Mutation_p.E344*|ABCC11_ENST00000353782.5_Nonsense_Mutation_p.E344*	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	344	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GTGAGAACTTCACTGGTCACA	0.448																																							uc002eff.1		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1030-1032)GAA>TAA		ATP-binding cassette, sub-family C, member 11							143.0	136.0	139.0					16																	48249177		2201	4300	6501	SO:0001587	stop_gained	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48249177C>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1030G>T	16.37:g.48249177C>A	ENSP00000378230:p.Glu344*					ABCC11_uc002efg.1_Nonsense_Mutation_p.E344*|ABCC11_uc002efh.1_Nonsense_Mutation_p.E344*|ABCC11_uc010vgk.1_RNA	p.E344*	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			7	1380	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	344			ABC transmembrane type-1 1.		Q8TDJ0|Q96JA6|Q9BX80	Nonsense_Mutation	SNP	ENST00000394747.1	37	c.1030G>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	37	6.408162	0.97542	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.7165	15.7055	0.77577	0.0:1.0:0.0:0.0	.	.	.	.	X	344	.	ENSP00000311326:E344X	E	-	1	0	ABCC11	46806678	1.000000	0.71417	0.549000	0.28204	0.567000	0.35839	5.159000	0.64923	2.444000	0.82710	0.650000	0.86243	GAA		0.448	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		6	62	1	0	0.00116845	0.001168	0.00144635	6	62				
NDRG4	65009	broad.mit.edu	37	16	58537747	58537747	+	Silent	SNP	C	C	A	rs145564006	byFrequency	TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr16:58537747C>A	ENST00000570248.1	+	2	173	c.67C>A	c.(67-69)Cgg>Agg	p.R23R	NDRG4_ENST00000562999.1_Silent_p.R23R|NDRG4_ENST00000569923.1_5'UTR|NDRG4_ENST00000394279.2_Silent_p.R55R|NDRG4_ENST00000566192.1_Silent_p.R23R|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000394282.4_Silent_p.R75R|NDRG4_ENST00000563799.1_Silent_p.R23R|NDRG4_ENST00000568640.1_Silent_p.R41R|NDRG4_ENST00000356752.4_Silent_p.R53R|NDRG4_ENST00000258187.5_Silent_p.R55R	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	23					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TGTAGTGATCCGGGGCTCCCC	0.627																																							uc002eno.2		NA																	0				skin(1)	1						c.(67-69)CGG>AGG		NDRG family member 4 isoform 1							91.0	77.0	82.0					16																	58537747		2198	4300	6498	SO:0001819	synonymous_variant	65009				cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		g.chr16:58537747C>A	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.67C>A	16.37:g.58537747C>A						NDRG4_uc002enk.2_Silent_p.R55R|NDRG4_uc002enm.2_Silent_p.R75R|NDRG4_uc010vif.1_Silent_p.R55R|NDRG4_uc010cdk.2_Silent_p.R23R|NDRG4_uc010vig.1_Silent_p.R53R|NDRG4_uc010vih.1_5'UTR|NDRG4_uc010vii.1_Silent_p.R41R|NDRG4_uc002enp.2_Silent_p.R23R|NDRG4_uc002enq.1_5'Flank	p.R23R	NM_022910	NP_075061	Q9ULP0	NDRG4_HUMAN			2	173	+			23					B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Silent	SNP	ENST00000570248.1	37	c.67C>A	CCDS58466.1																																																																																				0.627	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2			22	20	1	0	1.85244e-09	0.00333	2.85663e-09	22	20				
CALB2	794	broad.mit.edu	37	16	71423651	71423652	+	Splice_Site	DNP	GG	GG	TT			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr16:71423651_71423652GG>TT	ENST00000302628.4	+	11	776_777	c.699_700GG>TT	c.(697-702)aaGGaa>aaTTaa	p.233_234KE>N*	CALB2_ENST00000349553.5_3'UTR	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	233					cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GTATTTCCTAGGAAATGAATAT	0.52																																							uc002faa.3		NA																	0					0						c.e11-1		calbindin 2 isoform 1																																				SO:0001630	splice_region_variant	794						calcium ion binding	g.chr16:71423651_71423652GG>TT	X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"""EF-hand domain containing"""	1435	protein-coding gene	gene with protein product	"""calretinin"""	114051	"""calbindin 2, 29kDa (calretinin)"""			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	Exception_encountered	16.37:g.71423651_71423652delinsTT						CALB2_uc010vme.1_Splice_Site|CALB2_uc002fac.3_Splice_Site	p.E234_splice	NM_001740	NP_001731	P22676	CALB2_HUMAN			11	770	+		Ovarian(137;0.125)						A8K4Y1|Q53HD2|Q96BK4	Splice_Site	DNP	ENST00000302628.4	37	c.700_splice	CCDS10899.1																																																																																				0.520	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740	Nonsense_Mutation	78	163	0	0	0	0.004672	0	78	163				
PKD1L2	114780	broad.mit.edu	37	16	81145941	81145941	+	RNA	SNP	C	C	A	rs368747287		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr16:81145941C>A	ENST00000534142.1	-	0	1198				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TAGCCAAGGGCGGCATCGGCT	0.532																																							uc002fgh.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(6811-6813)GCC>TCC		polycystin 1-like 2 isoform a							62.0	59.0	60.0					16																	81145941		2016	4173	6189			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81145941C>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81145941C>A						PKD1L2_uc002fgf.1_Missense_Mutation_p.A71S|PKD1L2_uc002fgg.1_RNA	p.A2271S	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			42	6811	-			2271			Helical; (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000534142.1	37	c.6811G>T																																																																																					0.532	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			23	33	1	0	1.55795e-14	0.001882	2.72343e-14	23	33				
CPNE7	27132	broad.mit.edu	37	16	89645307	89645307	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr16:89645307G>T	ENST00000268720.5	+	3	530	c.400G>T	c.(400-402)Gtt>Ttt	p.V134F	CPNE7_ENST00000319518.8_Intron	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	134					lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GAGAGTGTCTGTTGATGTGCT	0.557																																							uc002fnp.2		NA																	0					0						c.(400-402)GTT>TTT		copine 7 isoform b							123.0	105.0	111.0					16																	89645307		2198	4300	6498	SO:0001583	missense	27132				lipid metabolic process		transporter activity	g.chr16:89645307G>T	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.400G>T	16.37:g.89645307G>T	ENSP00000268720:p.Val134Phe					CPNE7_uc002fnq.2_Intron	p.V134F	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)	3	530	+		all_hematologic(23;0.0748)	134						Missense_Mutation	SNP	ENST00000268720.5	37	c.400G>T	CCDS10980.1	.	.	.	.	.	.	.	.	.	.	G	4.593	0.110159	0.08780	.	.	ENSG00000178773	ENST00000268720	T	0.14391	2.51	0.471	0.471	0.16752	C2 calcium/lipid-binding domain, CaLB (1);	14.318400	0.01685	U	0.026358	T	0.08802	0.0218	N	0.22421	0.69	0.09310	N	1	B	0.16396	0.017	B	0.14578	0.011	T	0.27157	-1.0082	9	0.05959	T	0.93	.	.	.	.	.	134	Q9UBL6	CPNE7_HUMAN	F	134	ENSP00000268720:V134F	ENSP00000268720:V134F	V	+	1	0	CPNE7	88172808	0.011000	0.17503	0.002000	0.10522	0.009000	0.06853	0.251000	0.18257	0.489000	0.27749	0.205000	0.17691	GTT		0.557	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			12	19	1	0	6.40141e-05	0.000978	8.40071e-05	12	19				
ZNF594	84622	broad.mit.edu	37	17	5085550	5085550	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr17:5085550C>A	ENST00000399604.4	-	1	2142	c.2002G>T	c.(2002-2004)Gct>Tct	p.A668S	ZNF594_ENST00000575779.1_Missense_Mutation_p.A668S			Q96JF6	ZN594_HUMAN	zinc finger protein 594	668					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGGTGTGTAGCAAGGTGTGAC	0.468																																							uc010cla.1		NA																	0				ovary(2)|skin(1)	3						c.(2002-2004)GCT>TCT		zinc finger protein 594							73.0	80.0	78.0					17																	5085550		2190	4298	6488	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5085550C>A	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.2002G>T	17.37:g.5085550C>A	ENSP00000382513:p.Ala668Ser						p.A668S	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN			2	2158	-			668			C2H2-type 20.		Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.2002G>T	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	c	2.758	-0.258555	0.05791	.	.	ENSG00000180626	ENST00000399604;ENST00000389222	T	0.15952	2.38	1.14	-0.236	0.13067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09949	0.0244	L	0.28504	0.86	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34054	-0.9844	9	0.34782	T	0.22	.	2.5959	0.04854	0.0:0.4505:0.3173:0.2322	.	668	Q96JF6	ZN594_HUMAN	S	668;263	ENSP00000382513:A668S	ENSP00000373874:A263S	A	-	1	0	ZNF594	5026274	0.000000	0.05858	0.011000	0.14972	0.079000	0.17450	-0.495000	0.06443	-0.378000	0.07918	0.184000	0.17185	GCT		0.468	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		24	44	1	0	1.10513e-12	0.002299	1.86085e-12	24	44				
TEKT1	83659	broad.mit.edu	37	17	6718555	6718555	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr17:6718555C>T	ENST00000338694.2	-	5	685	c.556G>A	c.(556-558)Gat>Aat	p.D186N	TEKT1_ENST00000535086.1_Missense_Mutation_p.D40N	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	186						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				AAGCAGATATCATCTATGGTC	0.478																																							uc002gdt.2		NA																	0				ovary(1)|skin(1)	2						c.(556-558)GAT>AAT		tektin 1							235.0	212.0	220.0					17																	6718555		2203	4300	6503	SO:0001583	missense	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6718555C>T		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.556G>A	17.37:g.6718555C>T	ENSP00000341346:p.Asp186Asn					TEKT1_uc010vth.1_Missense_Mutation_p.D40N	p.D186N	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN			5	666	-		Myeloproliferative disorder(207;0.0255)	186					D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	c.556G>A	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.337975	0.41398	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.02498	4.27;4.27	5.18	5.18	0.71444	.	0.217164	0.47093	D	0.000245	T	0.02455	0.0075	L	0.27944	0.81	0.39196	D	0.963064	B	0.15141	0.012	B	0.17979	0.02	T	0.53070	-0.8490	10	0.15499	T	0.54	.	10.08	0.42384	0.0:0.9077:0.0:0.0923	.	186	Q969V4	TEKT1_HUMAN	N	186;40	ENSP00000341346:D186N;ENSP00000444142:D40N	ENSP00000341346:D186N	D	-	1	0	TEKT1	6659279	0.920000	0.31207	0.692000	0.30179	0.755000	0.42902	1.799000	0.38824	2.582000	0.87167	0.655000	0.94253	GAT		0.478	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		20	71	0	0	0	0.002299	0	20	71				
NEURL4	84461	broad.mit.edu	37	17	7221650	7221650	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr17:7221650C>G	ENST00000399464.2	-	24	3905	c.3890G>C	c.(3889-3891)gGg>gCg	p.G1297A	GPS2_ENST00000389167.5_5'Flank|NEURL4_ENST00000570460.1_Missense_Mutation_p.G1273A|NEURL4_ENST00000315614.7_Missense_Mutation_p.G1295A|RP11-542C16.2_ENST00000575474.1_Missense_Mutation_p.G111R|GPS2_ENST00000391950.3_5'Flank|GPS2_ENST00000380728.2_5'Flank|NEURL4_ENST00000574120.1_5'UTR	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1297						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACTGGCAGCCCCTGGCTCAGG	0.602																																							uc002gga.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(3889-3891)GGG>GCG		neuralized homolog 4 isoform 1							118.0	131.0	127.0					17																	7221650		2023	4182	6205	SO:0001583	missense	84461						protein binding	g.chr17:7221650C>G		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.3890G>C	17.37:g.7221650C>G	ENSP00000382390:p.Gly1297Ala					GPS2_uc002gfx.1_5'Flank|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_5'UTR|NEURL4_uc002ggb.1_Missense_Mutation_p.G1295A	p.G1297A	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN			24	3897	-			1297					Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.3890G>C	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522319	0.44866	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.27720	1.65;1.65	5.7	5.7	0.88788	.	0.375096	0.28409	N	0.015450	T	0.29850	0.0746	L	0.50333	1.59	0.34287	D	0.682797	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.003	T	0.32851	-0.9891	10	0.09338	T	0.73	-19.1288	18.5875	0.91196	0.0:1.0:0.0:0.0	.	1295;1297	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	A	1295;1297	ENSP00000319826:G1295A;ENSP00000382390:G1297A	ENSP00000319826:G1295A	G	-	2	0	NEURL4	7162374	0.999000	0.42202	1.000000	0.80357	0.898000	0.52572	3.215000	0.51169	2.689000	0.91719	0.462000	0.41574	GGG		0.602	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		49	73	0	0	0	0.00361	0	49	73				
ALOXE3	59344	broad.mit.edu	37	17	8018264	8018264	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr17:8018264C>A	ENST00000448843.2	-	5	886	c.546G>T	c.(544-546)caG>caT	p.Q182H	ALOXE3_ENST00000318227.3_Missense_Mutation_p.Q314H|ALOXE3_ENST00000380149.1_Missense_Mutation_p.Q338H	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	182	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						ACCTGTCACCCTGGTCTACAC	0.522																																							uc010cnr.2		NA																	0				skin(3)|lung(1)|central_nervous_system(1)	5						c.(544-546)CAG>CAT		arachidonate lipoxygenase 3 isoform 2							233.0	206.0	215.0					17																	8018264		2203	4300	6503	SO:0001583	missense	59344				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity	g.chr17:8018264C>A	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.546G>T	17.37:g.8018264C>A	ENSP00000400581:p.Gln182His					ALOXE3_uc002gka.2_Missense_Mutation_p.Q338H|ALOXE3_uc010vuo.1_Missense_Mutation_p.Q314H|ALOXE3_uc010vup.1_RNA	p.Q182H	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN			5	916	-			182			Lipoxygenase.		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	c.546G>T	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	C	9.326	1.059339	0.19987	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.90004	-2.6;-2.6;-2.6	5.67	1.29	0.21616	Lipoxygenase, C-terminal (2);	1.645900	0.03395	N	0.202415	D	0.87010	0.6071	L	0.53249	1.67	0.30117	N	0.806015	P;P;P	0.51653	0.947;0.661;0.661	B;B;B	0.40741	0.339;0.332;0.332	T	0.77346	-0.2622	10	0.66056	D	0.02	-11.881	9.5898	0.39539	0.0:0.7049:0.0:0.2951	.	314;182;182	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	H	338;314;182	ENSP00000369494:Q338H;ENSP00000314879:Q314H;ENSP00000400581:Q182H	ENSP00000314879:Q314H	Q	-	3	2	ALOXE3	7958989	0.740000	0.28207	0.284000	0.24805	0.047000	0.14425	0.108000	0.15396	0.301000	0.22738	0.591000	0.81541	CAG		0.522	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			65	141	1	0	3.83939e-23	0.00361	7.54695e-23	65	141				
PFAS	5198	broad.mit.edu	37	17	8172508	8172508	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr17:8172508G>T	ENST00000314666.6	+	28	4076	c.3943G>T	c.(3943-3945)Gat>Tat	p.D1315Y	PFAS_ENST00000545834.1_Missense_Mutation_p.D891Y	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1315					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CCCTCCATTTGATACTCTGAC	0.642																																							uc002gkr.2		NA																	0				ovary(2)|central_nervous_system(2)|pancreas(1)	5						c.(3943-3945)GAT>TAT		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						44.0	44.0	44.0					17																	8172508		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8172508G>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.3943G>T	17.37:g.8172508G>T	ENSP00000313490:p.Asp1315Tyr					PFAS_uc010vuv.1_Missense_Mutation_p.D891Y|PFAS_uc002gks.2_3'UTR	p.D1315Y	NM_012393	NP_036525	O15067	PUR4_HUMAN			28	4084	+			1315					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.3943G>T	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.337461	0.41398	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.32988	1.43;2.17	5.46	4.5	0.54988	Glutamine amidotransferase type 1 (1);	0.348334	0.28393	N	0.015519	T	0.30541	0.0768	L	0.55481	1.735	0.31932	N	0.612039	B	0.21688	0.059	B	0.20184	0.028	T	0.39231	-0.9624	10	0.87932	D	0	-21.2469	11.8894	0.52620	0.085:0.0:0.915:0.0	.	1315	O15067	PUR4_HUMAN	Y	891;1315;724	ENSP00000441706:D891Y;ENSP00000313490:D1315Y	ENSP00000313490:D1315Y	D	+	1	0	PFAS	8113233	1.000000	0.71417	0.977000	0.42913	0.993000	0.82548	8.784000	0.91818	1.289000	0.44618	0.655000	0.94253	GAT		0.642	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			13	31	1	0	0.000151284	0.001855	0.000197403	13	31				
MYH10	4628	broad.mit.edu	37	17	8455408	8455408	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr17:8455408T>C	ENST00000269243.4	-	8	983	c.845A>G	c.(844-846)cAt>cGt	p.H282R	MYH10_ENST00000396239.1_Missense_Mutation_p.H282R|MYH10_ENST00000379980.4_Missense_Mutation_p.H298R|MYH10_ENST00000360416.3_Missense_Mutation_p.H292R	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	282	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GTAAAAGATATGAAAAGTACG	0.303																																							uc002gll.2		NA																	0				ovary(2)	2						c.(844-846)CAT>CGT		myosin, heavy polypeptide 10, non-muscle							47.0	49.0	48.0					17																	8455408		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8455408T>C	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.845A>G	17.37:g.8455408T>C	ENSP00000269243:p.His282Arg					MYH10_uc002glm.2_Missense_Mutation_p.H292R|MYH10_uc010cnx.2_Missense_Mutation_p.H291R|MYH10_uc010cny.1_RNA	p.H282R	NM_005964	NP_005955	P35580	MYH10_HUMAN			8	941	-			282			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.845A>G	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.399942	0.83120	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	4.78	4.78	0.61160	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.98150	0.9389	H	0.99939	4.995	0.80722	D	1	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.85130	0.997;0.925;0.997	D	0.98977	1.0803	10	0.87932	D	0	.	14.1481	0.65362	0.0:0.0:0.0:1.0	.	291;292;282	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	R	282;292;282;298	ENSP00000269243:H282R;ENSP00000353590:H292R;ENSP00000379539:H282R;ENSP00000369315:H298R	ENSP00000269243:H282R	H	-	2	0	MYH10	8396133	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.825000	0.86693	1.990000	0.58119	0.533000	0.62120	CAT		0.303	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			5	17	0	0	0	0.001984	0	5	17				
MYH1	4619	broad.mit.edu	37	17	10401191	10401191	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr17:10401191C>A	ENST00000226207.5	-	31	4319	c.4225G>T	c.(4225-4227)Gaa>Taa	p.E1409*	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1409					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCACAGCTTCTACATGTTCC	0.458																																							uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(4225-4227)GAA>TAA		myosin, heavy chain 1, skeletal muscle, adult							103.0	92.0	96.0					17																	10401191		2203	4300	6503	SO:0001587	stop_gained	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10401191C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4225G>T	17.37:g.10401191C>A	ENSP00000226207:p.Glu1409*					uc002gml.1_Intron	p.E1409*	NM_005963	NP_005954	P12882	MYH1_HUMAN			31	4319	-			1409			Potential.		Q14CA4|Q9Y622	Nonsense_Mutation	SNP	ENST00000226207.5	37	c.4225G>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	43	10.230570	0.99365	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	.	.	.	5.65	5.65	0.86999	.	0.000000	0.44483	U	0.000453	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.073	0.97731	0.0:1.0:0.0:0.0	.	.	.	.	X	1409;498	.	ENSP00000226207:E1409X	E	-	1	0	MYH1	10341916	1.000000	0.71417	0.978000	0.43139	0.997000	0.91878	7.772000	0.85439	2.811000	0.96726	0.655000	0.94253	GAA		0.458	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		8	37	1	0	0.000157383	0.00308	0.000203047	8	37				
DNAH9	1770	broad.mit.edu	37	17	11666872	11666872	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr17:11666872G>C	ENST00000262442.4	+	36	7179	c.7111G>C	c.(7111-7113)Gag>Cag	p.E2371Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.E2371Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2371					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGAAATTTATGAGCATTATTT	0.498																																							uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(7111-7113)GAG>CAG		dynein, axonemal, heavy chain 9 isoform 2							104.0	96.0	99.0					17																	11666872		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11666872G>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7111G>C	17.37:g.11666872G>C	ENSP00000262442:p.Glu2371Gln					DNAH9_uc010coo.2_Missense_Mutation_p.E1665Q	p.E2371Q	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	36	7179	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2371					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.7111G>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288236	0.80803	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.32515	1.5;1.45	4.76	3.79	0.43588	.	0.065331	0.64402	D	0.000014	T	0.63885	0.2549	M	0.93375	3.41	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.74137	-0.3762	10	0.87932	D	0	.	13.1428	0.59444	0.0781:0.0:0.9219:0.0	.	2371	Q9NYC9	DYH9_HUMAN	Q	2371;2371;953	ENSP00000262442:E2371Q;ENSP00000414874:E2371Q	ENSP00000262442:E2371Q	E	+	1	0	DNAH9	11607597	1.000000	0.71417	0.993000	0.49108	0.965000	0.64279	9.715000	0.98748	1.122000	0.41944	0.655000	0.94253	GAG		0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		21	38	0	0	0	0.001523	0	21	38				
UBB	7314	broad.mit.edu	37	17	16285497	16285497	+	Silent	SNP	A	A	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr17:16285497A>G	ENST00000395837.1	+	2	457	c.276A>G	c.(274-276)gaA>gaG	p.E92E	UBB_ENST00000395839.1_Silent_p.E92E|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000302182.3_Silent_p.E92E|UBB_ENST00000578649.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	92	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		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)		p.E92E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCACCCTGGAAGTGGAGCCCA	0.557																																					Melanoma(163;1126 3406 34901)	Melanoma(163;1126 3406 34901)	uc002gpx.2		NA																	2	Substitution - coding silent(2)		endometrium(1)|central_nervous_system(1)	skin(3)	3						c.(274-276)GAA>GAG		ubiquitin B precursor																																				SO:0001819	synonymous_variant	7314				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.chr17:16285497A>G		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.276A>G	17.37:g.16285497A>G						UBB_uc010vwe.1_Intron	p.E92E	NM_018955	NP_061828	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	414	+			92			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.276A>G	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		5	97	0	0	0	0.000602	0	5	97				
PIGS	94005	broad.mit.edu	37	17	26881313	26881313	+	Silent	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr17:26881313C>T	ENST00000308360.7	-	12	1968	c.1593G>A	c.(1591-1593)gtG>gtA	p.V531V	PIGS_ENST00000543734.1_Silent_p.V470V|UNC119_ENST00000335765.4_5'Flank|UNC119_ENST00000484980.1_5'Flank|PIGS_ENST00000395346.2_Silent_p.V523V|UNC119_ENST00000301032.4_5'Flank	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	531					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GGAGGATGGGCACAGCCATAG	0.547																																							uc002hbo.2		NA																	0				breast(2)|urinary_tract(1)|kidney(1)	4						c.(1591-1593)GTG>GTA		phosphatidylinositol glycan anchor biosynthesis,							140.0	136.0	137.0					17																	26881313		2203	4300	6503	SO:0001819	synonymous_variant	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26881313C>T		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.1593G>A	17.37:g.26881313C>T						UNC119_uc002hbk.2_5'Flank|UNC119_uc002hbm.2_5'Flank|PIGS_uc002hbn.2_Silent_p.V523V|PIGS_uc010wap.1_Silent_p.V470V	p.V531V	NM_033198	NP_149975	Q96S52	PIGS_HUMAN			12	1966	-	Lung NSC(42;0.00431)		531			Helical; (Potential).		Q6UVX6	Silent	SNP	ENST00000308360.7	37	c.1593G>A	CCDS11235.1																																																																																				0.547	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		24	39	0	0	0	0.005443	0	24	39				
PIGS	94005	broad.mit.edu	37	17	26898184	26898184	+	Silent	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr17:26898184G>A	ENST00000308360.7	-	2	432	c.57C>T	c.(55-57)gcC>gcT	p.A19A	PIGS_ENST00000543734.1_Intron|RP11-192H23.5_ENST00000585189.1_RNA|PIGS_ENST00000395346.2_Silent_p.A11A	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	19					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					AGAAGAGGGCGGCGCGCTTGC	0.682																																							uc002hbo.2		NA																	0				breast(2)|urinary_tract(1)|kidney(1)	4						c.(55-57)GCC>GCT		phosphatidylinositol glycan anchor biosynthesis,							25.0	30.0	29.0					17																	26898184		2202	4298	6500	SO:0001819	synonymous_variant	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26898184G>A		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.57C>T	17.37:g.26898184G>A						PIGS_uc002hbn.2_Silent_p.A11A|PIGS_uc010wap.1_Intron	p.A19A	NM_033198	NP_149975	Q96S52	PIGS_HUMAN			2	430	-	Lung NSC(42;0.00431)		19			Helical; (Potential).		Q6UVX6	Silent	SNP	ENST00000308360.7	37	c.57C>T	CCDS11235.1																																																																																				0.682	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		11	25	0	0	0	0.001855	0	11	25				
SEZ6	124925	broad.mit.edu	37	17	27285150	27285150	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr17:27285150C>T	ENST00000317338.12	-	11	2545	c.2117G>A	c.(2116-2118)cGc>cAc	p.R706H	SEZ6_ENST00000442608.3_Missense_Mutation_p.R706H|SEZ6_ENST00000360295.9_Missense_Mutation_p.R706H|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	706					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TGTGTCATTGCGGGGCACCTC	0.617																																							uc002hdp.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(2116-2118)CGC>CAC		seizure related 6 homolog isoform 1							72.0	73.0	73.0					17																	27285150		2061	4195	6256	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27285150C>T	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.2117G>A	17.37:g.27285150C>T	ENSP00000312942:p.Arg706His					SEZ6_uc010crx.1_5'Flank|SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.R706H|SEZ6_uc002hdq.1_Missense_Mutation_p.R581H	p.R706H	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		11	2311	-	Lung NSC(42;0.0137)		706			Extracellular (Potential).		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.2117G>A	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	C	33	5.230925	0.95207	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000541381	T;T	0.30981	1.54;1.51	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.54334	0.1852	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.54443	-0.8293	10	0.52906	T	0.07	.	16.3161	0.82928	0.0:1.0:0.0:0.0	.	706;706	Q53EL9-3;Q53EL9	.;SEZ6_HUMAN	H	706;706;581;706	ENSP00000403784:R706H;ENSP00000353440:R706H	ENSP00000312942:R581H	R	-	2	0	SEZ6	24309276	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.487000	0.81328	2.531000	0.85337	0.462000	0.41574	CGC		0.617	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			14	42	0	0	0	0.003163	0	14	42				
CPD	1362	broad.mit.edu	37	17	28747973	28747973	+	Missense_Mutation	SNP	G	G	A	rs147588955	byFrequency	TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr17:28747973G>A	ENST00000225719.4	+	3	1185	c.1109G>A	c.(1108-1110)cGt>cAt	p.R370H	CPD_ENST00000543464.2_Missense_Mutation_p.R123H	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	370	Carboxypeptidase-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GAGAACAATCGTGAGTCTTTG	0.398																																							uc002hfb.1		NA																	0				liver(1)|skin(1)	2						c.(1108-1110)CGT>CAT		carboxypeptidase D precursor		G	HIS/ARG,HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	121.0	110.0	113.0		368,1109	4.9	1.0	17	dbSNP_134	113	0,8600		0,0,4300	yes	missense,missense	CPD	NM_001199775.1,NM_001304.4	29,29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging,probably-damaging	123/1134,370/1381	28747973	3,13003	2203	4300	6503	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28747973G>A	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.1109G>A	17.37:g.28747973G>A	ENSP00000225719:p.Arg370His					CPD_uc010wbo.1_Missense_Mutation_p.R123H|CPD_uc010wbp.1_RNA	p.R370H	NM_001304	NP_001295	O75976	CBPD_HUMAN			3	1124	+			370			Extracellular (Potential).|Carboxypeptidase-like 1.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.1109G>A	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613719	0.87359	6.81E-4	0.0	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.11495	2.77;2.77	5.87	4.91	0.64330	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	M	0.86573	2.825	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.44636	-0.9315	10	0.87932	D	0	.	14.4124	0.67124	0.0705:0.0:0.9295:0.0	.	123;370	F5GZH6;O75976	.;CBPD_HUMAN	H	370;123	ENSP00000225719:R370H;ENSP00000444443:R123H	ENSP00000225719:R370H	R	+	2	0	CPD	25772099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.538000	0.67193	1.632000	0.50472	0.655000	0.94253	CGT		0.398	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		10	27	0	0	0	0.006214	0	10	27				
GSDMB	55876	broad.mit.edu	37	17	38062503	38062503	+	Missense_Mutation	SNP	T	T	C	rs35104165	byFrequency	TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr17:38062503T>C	ENST00000394179.1	-	7	864	c.734A>G	c.(733-735)gAt>gGt	p.D245G	GSDMB_ENST00000394175.2_Missense_Mutation_p.D228G|GSDMB_ENST00000360317.3_Missense_Mutation_p.D250G|GSDMB_ENST00000309481.7_Missense_Mutation_p.D237G|GSDMB_ENST00000520542.1_Missense_Mutation_p.D241G|GSDMB_ENST00000418519.1_Missense_Mutation_p.D250G			Q8TAX9	GSDMB_HUMAN	gasdermin B	245			D -> G (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			cytoplasm (GO:0005737)		p.D228G(2)		breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						GTTTCTGGAATCCTCCGAACC	0.478													T|||	79	0.0157748	0.0038	0.0288	5008	,	,		19080	0.0		0.0358	False		,,,				2504	0.0184						uc010cwj.2		NA																	2	Substitution - Missense(2)	p.D228G(2)	breast(1)|pancreas(1)	breast(1)|pancreas(1)	2						c.(748-750)GAT>GGT		gasdermin B isoform 1		T	GLY/ASP,GLY/ASP,GLY/ASP,GLY/ASP	40,4366	43.1+/-76.7	1,38,2164	102.0	90.0	94.0		710,749,722,683	2.7	0.0	17	dbSNP_126	94	324,8276	113.7+/-173.7	6,312,3982	yes	missense,missense,missense,missense	GSDMB	NM_001042471.1,NM_001165958.1,NM_001165959.1,NM_018530.2	94,94,94,94	7,350,6146	CC,CT,TT		3.7674,0.9079,2.7987	benign,benign,benign,benign	237/404,250/417,241/408,228/395	38062503	364,12642	2203	4300	6503	SO:0001583	missense	55876					cytoplasm		g.chr17:38062503T>C	AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"""gasdermin-like"""	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.734A>G	17.37:g.38062503T>C	ENSP00000377733:p.Asp245Gly					GSDMB_uc010cwi.2_5'UTR|GSDMB_uc010cwk.2_RNA|GSDMB_uc010cwl.2_RNA|GSDMB_uc010cwm.2_RNA|GSDMB_uc002htg.2_Missense_Mutation_p.D228G|GSDMB_uc002hth.2_Missense_Mutation_p.D237G|GSDMB_uc010wem.1_Missense_Mutation_p.D241G	p.D250G	NM_001042471	NP_001035936	Q8TAX9	GSDMB_HUMAN			7	754	-			245		D -> G (in a breast cancer sample; somatic mutation).	Potential.		B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Missense_Mutation	SNP	ENST00000394179.1	37	c.749A>G		43|43	0.019688644688644688|0.019688644688644688	3|3	0.006097560975609756|0.006097560975609756	11|11	0.03038674033149171|0.03038674033149171	0|0	0.0|0.0	29|29	0.03825857519788918|0.03825857519788918	T|T	10.78|10.78	1.447317|1.447317	0.25987|0.25987	0.009079|0.009079	0.037674|0.037674	ENSG00000073605|ENSG00000073605	ENST00000360317;ENST00000394175;ENST00000309481;ENST00000520542;ENST00000418519;ENST00000394179|ENST00000420491	T;T;T;T;T|.	0.26810|.	1.71;1.71;1.71;1.71;1.71|.	3.78|3.78	2.66|2.66	0.31614|0.31614	.|.	0.346182|.	0.24061|.	N|.	0.041915|.	T|T	0.10723|0.10723	0.0262|0.0262	L|L	0.41824|0.41824	1.3|1.3	0.09310|0.09310	N|N	1|1	B;D;D;D|.	0.60160|.	0.012;0.987;0.987;0.987|.	B;P;P;P|.	0.56278|.	0.023;0.795;0.795;0.795|.	T|T	0.08638|0.08638	-1.0712|-1.0712	10|5	0.22109|.	T|.	0.4|.	.|.	7.3505|7.3505	0.26689|0.26689	0.0:0.0:0.2224:0.7775|0.0:0.0:0.2224:0.7775	rs35104165|rs35104165	241;250;237;228|.	B4DKK7;Q8TAX9-4;Q8TAX9-3;Q8TAX9-2|.	.;.;.;.|.	G|V	245;228;237;241;250;245|182	ENSP00000377729:D228G;ENSP00000312584:D237G;ENSP00000430157:D241G;ENSP00000415049:D250G;ENSP00000377733:D245G|.	ENSP00000312584:D237G|.	D|I	-|-	2|1	0|0	GSDMB|GSDMB	35316029|35316029	0.001000|0.001000	0.12720|0.12720	0.006000|0.006000	0.13384|0.13384	0.242000|0.242000	0.25591|0.25591	0.092000|0.092000	0.15066|0.15066	0.589000|0.589000	0.29677|0.29677	0.496000|0.496000	0.49642|0.49642	GAT|ATT		0.478	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530		6	71	0	0	0	0.001984	0	6	71				
KRT40	125115	broad.mit.edu	37	17	39138696	39138696	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr17:39138696G>T	ENST00000398486.2	-	5	710	c.550C>A	c.(550-552)Ctt>Att	p.L184I	KRT40_ENST00000377755.4_Missense_Mutation_p.L184I	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	184	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				AGCTGGCGAAGGGACAGTTCA	0.517																																							uc010cxh.1		NA																	0					0						c.(550-552)CTT>ATT		type I hair keratin KA36							80.0	79.0	79.0					17																	39138696		2019	4193	6212	SO:0001583	missense	125115					intermediate filament	structural molecule activity	g.chr17:39138696G>T	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.550C>A	17.37:g.39138696G>T	ENSP00000381500:p.Leu184Ile					KRT40_uc002hvq.1_RNA	p.L184I	NM_182497	NP_872303	Q6A162	K1C40_HUMAN			5	711	-		Breast(137;0.00043)	184			Rod.|Coil 1B.		Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	37	c.550C>A	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261174	0.39995	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.89196	-2.48;-2.48	5.18	4.21	0.49690	Filament (1);	0.301241	0.18350	N	0.143917	D	0.92740	0.7692	L	0.61387	1.9	0.22305	N	0.999218	P	0.48407	0.91	D	0.66351	0.943	D	0.86078	0.1542	10	0.87932	D	0	.	12.4505	0.55675	0.0701:0.0:0.8105:0.1193	.	184	Q6A162	K1C40_HUMAN	I	184	ENSP00000366984:L184I;ENSP00000381500:L184I	ENSP00000366984:L184I	L	-	1	0	KRT40	36392222	0.981000	0.34729	0.996000	0.52242	0.498000	0.33706	1.830000	0.39131	0.696000	0.31696	-1.094000	0.02160	CTT		0.517	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497		34	57	1	0	1.30998e-17	0.005524	2.41924e-17	34	57				
KRTAP1-5	83895	broad.mit.edu	37	17	39183212	39183212	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr17:39183212A>T	ENST00000361883.5	-	1	242	c.196T>A	c.(196-198)Tgt>Agt	p.C66S		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	66	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			CTGGTCTCACAGCAGCTTGGC	0.622																																							uc002hvu.2		NA																	0					0						c.(196-198)TGT>AGT		keratin associated protein 1.5							28.0	33.0	31.0					17																	39183212		2050	4212	6262	SO:0001583	missense	83895					keratin filament		g.chr17:39183212A>T	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.196T>A	17.37:g.39183212A>T	ENSP00000355302:p.Cys66Ser						p.C66S	NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	243	-		Breast(137;0.00043)	66			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.196T>A	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	-	8.101	0.776616	0.16120	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.01981	4.52	2.03	0.842	0.18927	.	.	.	.	.	T	0.02571	0.0078	L	0.51422	1.61	0.20489	N	0.999891	B	0.33919	0.432	B	0.33042	0.157	T	0.43491	-0.9388	9	0.38643	T	0.18	.	5.5817	0.17252	0.7557:0.0:0.0:0.2443	.	66	Q9BYS1	KRA15_HUMAN	S	66	ENSP00000355302:C66S	ENSP00000355302:C66S	C	-	1	0	KRTAP1-5	36436738	0.000000	0.05858	0.047000	0.18901	0.942000	0.58702	0.147000	0.16202	0.212000	0.20703	0.310000	0.20435	TGT		0.622	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			18	52	0	0	0	0.007413	0	18	52				
KRT31	3881	broad.mit.edu	37	17	39553599	39553599	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr17:39553599C>G	ENST00000251645.2	-	1	245	c.193G>C	c.(193-195)Gac>Cac	p.D65H		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	65	Coil 1A.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GCCAGGCGGTCGTTCAGGAAC	0.617																																							uc002hwn.2		NA																	0					0						c.(193-195)GAC>CAC		keratin 31							90.0	89.0	89.0					17																	39553599		2203	4300	6503	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39553599C>G	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.193G>C	17.37:g.39553599C>G	ENSP00000251645:p.Asp65His					KRT31_uc010cxn.2_Missense_Mutation_p.D65H	p.D65H	NM_002277	NP_002268	Q15323	K1H1_HUMAN			1	246	-		Breast(137;0.000496)	65			Coil 1A.|Rod.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.193G>C	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.990647	0.74589	.	.	ENSG00000094796	ENST00000251645	D	0.92752	-3.1	5.87	4.9	0.64082	Filament (1);	0.081198	0.53938	D	0.000060	D	0.97043	0.9034	H	0.94964	3.605	0.39362	D	0.965931	D	0.89917	1.0	D	0.77557	0.99	D	0.98753	1.0721	10	0.87932	D	0	.	14.5447	0.68020	0.0:0.9296:0.0:0.0704	.	65	Q15323	K1H1_HUMAN	H	65	ENSP00000251645:D65H	ENSP00000251645:D65H	D	-	1	0	KRT31	36807125	1.000000	0.71417	0.953000	0.39169	0.953000	0.61014	4.921000	0.63397	1.500000	0.48636	0.650000	0.86243	GAC		0.617	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		39	98	0	0	0	0.002522	0	39	98				
G6PC	2538	broad.mit.edu	37	17	41063145	41063145	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr17:41063145C>A	ENST00000253801.2	+	5	855	c.776C>A	c.(775-777)gCc>gAc	p.A259D	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	259					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ACACCCTTTGCCAGCCTCCTC	0.592																																							uc002icb.1		NA																	0				ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(775-777)GCC>GAC		glucose-6-phosphatase, catalytic subunit							94.0	82.0	86.0					17																	41063145		2203	4300	6503	SO:0001583	missense	2538	Glycogen_Storage_Disease_type_Ia			gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41063145C>A	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.776C>A	17.37:g.41063145C>A	ENSP00000253801:p.Ala259Asp					G6PC_uc010whf.1_3'UTR	p.A259D	NM_000151	NP_000142	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	5	855	+		Breast(137;0.000143)	259			Helical; (Potential).		A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	c.776C>A	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.912302	0.92178	.	.	ENSG00000131482	ENST00000253801	T	0.80738	-1.41	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.90528	0.7032	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91599	0.5293	10	0.66056	D	0.02	.	18.3996	0.90511	0.0:1.0:0.0:0.0	.	259	P35575	G6PC_HUMAN	D	259	ENSP00000253801:A259D	ENSP00000253801:A259D	A	+	2	0	G6PC	38316671	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.604000	0.82830	2.569000	0.86673	0.557000	0.71058	GCC		0.592	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		15	32	1	0	0.00316338	0.003163	0.00382276	15	32				
HEATR6	63897	broad.mit.edu	37	17	58144875	58144875	+	Silent	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr17:58144875G>A	ENST00000184956.6	-	8	1174	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	HEATR6_ENST00000585976.1_Silent_p.F386F	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	386	Poly-Ser.						poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TGGAAGAACTGAAGGATGAGG	0.463																																							uc002iyk.1		NA																	0				ovary(1)|skin(1)	2						c.(1156-1158)TTC>TTT		HEAT repeat containing 6							93.0	84.0	87.0					17																	58144875		2203	4300	6503	SO:0001819	synonymous_variant	63897						binding	g.chr17:58144875G>A	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.1158C>T	17.37:g.58144875G>A						HEATR6_uc010ddk.1_5'Flank|HEATR6_uc010wos.1_Silent_p.F218F	p.F386F	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		8	1175	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		386			Poly-Ser.		B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Silent	SNP	ENST00000184956.6	37	c.1158C>T	CCDS11623.1																																																																																				0.463	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		21	48	0	0	0	0.00278	0	21	48				
KCNH6	81033	broad.mit.edu	37	17	61615428	61615428	+	Missense_Mutation	SNP	C	C	A	rs34770814		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr17:61615428C>A	ENST00000583023.1	+	7	1515	c.1504C>A	c.(1504-1506)Ctg>Atg	p.L502M	KCNH6_ENST00000581784.1_Missense_Mutation_p.L449M|KCNH6_ENST00000456941.2_Missense_Mutation_p.L449M|KCNH6_ENST00000314672.5_Missense_Mutation_p.L502M	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	502					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GCCCCCAGCCCTGATGTACGC	0.662																																							uc002jay.2		NA																	0				skin(1)	1						c.(1504-1506)CTG>ATG		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						29.0	28.0	28.0					17																	61615428		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61615428C>A	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1504C>A	17.37:g.61615428C>A	ENSP00000463533:p.Leu502Met					KCNH6_uc010wpl.1_Missense_Mutation_p.L379M|KCNH6_uc010wpm.1_Missense_Mutation_p.L502M|KCNH6_uc002jaz.1_Missense_Mutation_p.L449M	p.L502M	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			7	1584	+			502			Helical; Name=Segment S6; (Potential).		Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.1504C>A	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997974	0.74818	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.98926	-5.24;-4.55	3.95	3.95	0.45737	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99023	0.9666	M	0.81497	2.545	0.80722	D	1	D;P;D;P	0.89917	0.999;0.948;1.0;0.934	D;P;D;D	0.80764	0.994;0.9;0.975;0.952	D	0.99552	1.0966	10	0.87932	D	0	.	16.1793	0.81889	0.0:1.0:0.0:0.0	.	379;502;449;502	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	M	502;449	ENSP00000318212:L502M;ENSP00000396900:L449M	ENSP00000318212:L502M	L	+	1	2	KCNH6	58969160	0.934000	0.31675	1.000000	0.80357	0.774000	0.43823	2.046000	0.41260	2.042000	0.60477	0.313000	0.20887	CTG		0.662	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		10	18	1	0	7.48243e-07	0.006214	1.05445e-06	10	18				
SCN4A	6329	broad.mit.edu	37	17	62020280	62020280	+	Silent	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr17:62020280C>T	ENST00000435607.1	-	23	4270	c.4194G>A	c.(4192-4194)ggG>ggA	p.G1398G	SCN4A_ENST00000578147.1_Silent_p.G1398G	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1398					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCACGCACTCCCCTGTGAAGA	0.517																																							uc002jds.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(4192-4194)GGG>GGA		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						206.0	194.0	198.0					17																	62020280		2203	4300	6503	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62020280C>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4194G>A	17.37:g.62020280C>T							p.G1398G	NM_000334	NP_000325	P35499	SCN4A_HUMAN			23	4271	-			1398			IV.|Helical; Name=S2 of repeat IV; (Potential).		Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.4194G>A	CCDS45761.1																																																																																				0.517	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		34	61	0	0	0	0.003755	0	34	61				
PLEKHM1P	440456	broad.mit.edu	37	17	62796704	62796704	+	RNA	SNP	G	G	A	rs181737497	byFrequency	TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr17:62796704G>A	ENST00000582986.1	-	0	1216					NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)										AGTACTGCACGTTCACCCACT	0.697													G|||	24	0.00479233	0.003	0.0058	5008	,	,		15475	0.003		0.0089	False		,,,				2504	0.0041						uc002jew.3		NA																	0					0						c.(334-336)AAC>AAT		RecName: Full=Putative pleckstrin homology domain-containing family M member 1P;																																						440456							g.chr17:62796704G>A			17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62796704G>A						PLEKHM1P_uc002jev.3_RNA|PLEKHM1P_uc010wqe.1_Silent_p.N112N	p.N112N	NR_024386						6	1247	-									Silent	SNP	ENST00000582986.1	37	c.336C>T																																																																																					0.697	PLEKHM1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445598.1	NR_024386		16	32	0	0	0	0.00499	0	16	32				
GPRC5C	55890	broad.mit.edu	37	17	72436210	72436211	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr17:72436210_72436211GG>TT	ENST00000392627.1	+	2	1556_1557	c.430_431GG>TT	c.(430-432)GGc>TTc	p.G144F	GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.G111F|GPRC5C_ENST00000342648.5_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	99					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GGGGACCCTGGGCCTCTTCTGC	0.594																																							uc002jks.2		NA																	0				ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1)	5						c.(295-297)GGC>TTC		G protein-coupled receptor family C, group 5,																																				SO:0001583	missense	55890					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr17:72436210_72436211GG>TT	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	Exception_encountered	17.37:g.72436210_72436211delinsTT	ENSP00000376403:p.Gly144Phe					GPRC5C_uc002jkp.2_Missense_Mutation_p.G144F|GPRC5C_uc002jkq.2_Intron|GPRC5C_uc002jkr.2_Missense_Mutation_p.G111F|GPRC5C_uc002jkt.2_Missense_Mutation_p.G99F	p.G99F	NM_018653	NP_061123	Q9NQ84	GPC5C_HUMAN			1	334_335	+			99			Helical; Name=2; (Potential).		B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	DNP	ENST00000392627.1	37	c.295_296GG>TT	CCDS11699.1																																																																																				0.594	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2			33	69	0	0	0	0.004672	0	33	69				
MTCL1	23255	broad.mit.edu	37	18	8784761	8784761	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr18:8784761A>T	ENST00000306329.11	+	5	2731	c.2731A>T	c.(2731-2733)Agc>Tgc	p.S911C	SOGA2_ENST00000517570.1_Missense_Mutation_p.S551C|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000359865.3_Missense_Mutation_p.S551C|SOGA2_ENST00000400050.3_Missense_Mutation_p.S551C																							AGAGTCCTCTAGCTTCCTCTC	0.607																																							uc002knr.2		NA																	0					0						c.(1651-1653)AGC>TGC		hypothetical protein LOC23255							86.0	86.0	86.0					18																	8784761		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8784761A>T																												ENST00000306329.11:c.2731A>T	18.37:g.8784761A>T	ENSP00000305027:p.Ser911Cys					KIAA0802_uc002knq.2_Missense_Mutation_p.S551C|KIAA0802_uc010dkw.1_Missense_Mutation_p.S389C	p.S551C	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			6	1793	+			902						Missense_Mutation	SNP	ENST00000306329.11	37	c.1651A>T		.	.	.	.	.	.	.	.	.	.	A	12.58	1.980026	0.34942	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.62105	0.05;0.05;0.05	5.35	5.35	0.76521	.	0.232215	0.30969	N	0.008505	T	0.76033	0.3931	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.78147	-0.2317	10	0.62326	D	0.03	-26.2609	15.3364	0.74260	1.0:0.0:0.0:0.0	.	572;551	A8MQ54;Q9Y4B5-3	.;.	C	572;551;551;551	ENSP00000429556:S551C;ENSP00000352927:S551C;ENSP00000382924:S551C	ENSP00000305027:S572C	S	+	1	0	CCDC165	8774761	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	8.962000	0.93254	2.021000	0.59480	0.533000	0.62120	AGC		0.607	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			15	57	0	0	0	0.006122	0	15	57				
CEP192	55125	broad.mit.edu	37	18	13056511	13056511	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr18:13056511G>T	ENST00000325971.8	+	17	3727	c.2134G>T	c.(2134-2136)Gtg>Ttg	p.V712L	CEP192_ENST00000506447.1_Missense_Mutation_p.V1308L|CEP192_ENST00000430049.2_Missense_Mutation_p.V833L			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	712					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCAGAACTCTGTGGCTGTGGG	0.512																																							uc010xac.1		NA																	0				ovary(4)|pancreas(1)	5						c.(3922-3924)GTG>TTG		centrosomal protein 192kDa							98.0	92.0	94.0					18																	13056511		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13056511G>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2134G>T	18.37:g.13056511G>T	ENSP00000317156:p.Val712Leu					CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.V833L|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.V1049L	p.V1308L	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			19	4002	+			1308					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.3922G>T		.	.	.	.	.	.	.	.	.	.	G	1.467	-0.560764	0.03939	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.07021	3.29;3.23;3.24	4.96	0.849	0.18972	.	0.277119	0.25332	N	0.031438	T	0.07324	0.0185	L	0.43923	1.385	0.09310	N	1	B;P;B	0.36110	0.004;0.537;0.001	B;B;B	0.38500	0.009;0.275;0.006	T	0.37291	-0.9712	10	0.13108	T	0.6	-1.782	9.2893	0.37778	0.0657:0.3:0.5451:0.0893	.	833;1308;712	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	L	1308;712;712;833	ENSP00000427550:V1308L;ENSP00000317156:V712L;ENSP00000389190:V833L	ENSP00000317156:V712L	V	+	1	0	CEP192	13046511	0.067000	0.21026	0.002000	0.10522	0.001000	0.01503	0.683000	0.25349	-0.084000	0.12595	-0.795000	0.03280	GTG		0.512	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		22	33	1	0	1.10513e-12	0.002299	1.86085e-12	22	33				
B4GALT6	9331	broad.mit.edu	37	18	29205658	29205658	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr18:29205658C>A	ENST00000306851.5	-	9	1364	c.1068G>T	c.(1066-1068)agG>agT	p.R356S	B4GALT6_ENST00000237019.7_Missense_Mutation_p.R317S|B4GALT6_ENST00000383131.3_Missense_Mutation_p.R317S	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	356					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			GTATTTTTGGCCTATATATTA	0.358																																							uc002kwz.3		NA																	0					0						c.(1066-1068)AGG>AGT		beta-1,4-galactosyltransferase 6							100.0	98.0	99.0					18																	29205658		2203	4299	6502	SO:0001583	missense	9331				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding	g.chr18:29205658C>A	AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"""Beta 4-glycosyltransferases"""	929	protein-coding gene	gene with protein product	"""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"""	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.1068G>T	18.37:g.29205658C>A	ENSP00000306459:p.Arg356Ser					B4GALT6_uc010dma.2_Missense_Mutation_p.R317S|B4GALT6_uc010dmb.2_Missense_Mutation_p.R317S|B4GALT6_uc002kwy.3_RNA	p.R356S	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00791)		9	1365	-			356			Lumenal (Potential).		O60514|Q6NT09	Missense_Mutation	SNP	ENST00000306851.5	37	c.1068G>T	CCDS11900.1	.	.	.	.	.	.	.	.	.	.	C	2.613	-0.290405	0.05568	.	.	ENSG00000118276	ENST00000306851;ENST00000237019;ENST00000383131	T;T;T	0.34072	1.38;1.38;1.38	5.87	-8.68	0.00859	.	0.450041	0.24204	N	0.040598	T	0.06096	0.0158	N	0.01048	-1.04	0.19575	N	0.999965	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.30563	-0.9974	10	0.08837	T	0.75	-0.094	2.8613	0.05588	0.2505:0.2736:0.0661:0.4098	.	317;317;356	Q6NT09;G3XA83;Q9UBX8	.;.;B4GT6_HUMAN	S	356;317;317	ENSP00000306459:R356S;ENSP00000237019:R317S;ENSP00000372613:R317S	ENSP00000237019:R317S	R	-	3	2	B4GALT6	27459656	0.044000	0.20184	0.009000	0.14445	0.980000	0.70556	-0.604000	0.05667	-1.542000	0.01725	-0.229000	0.12294	AGG		0.358	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2	NM_004775		16	25	1	0	1.99824e-07	0.00499	2.91462e-07	16	25				
TRAPPC8	22878	broad.mit.edu	37	18	29447398	29447398	+	Silent	SNP	T	T	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr18:29447398T>G	ENST00000283351.4	-	17	2765	c.2430A>C	c.(2428-2430)tcA>tcC	p.S810S	TRAPPC8_ENST00000582539.1_Silent_p.S756S	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	810					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTAAGAACTCTGAAATAACTT	0.264																																							uc002kxc.3		NA																	0					0						c.(2428-2430)TCA>TCC		hypothetical protein LOC22878							50.0	51.0	51.0					18																	29447398		2200	4284	6484	SO:0001819	synonymous_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29447398T>G	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2430A>C	18.37:g.29447398T>G						KIAA1012_uc002kxb.3_Silent_p.S756S|KIAA1012_uc002kxd.3_RNA	p.S810S	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN			17	2794	-			810					A0JP15|B3KME5|Q9H0L2	Silent	SNP	ENST00000283351.4	37	c.2430A>C	CCDS11901.1																																																																																				0.264	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		6	15	0	0	0	0.004482	0	6	15				
SLC14A2	8170	broad.mit.edu	37	18	43204731	43204731	+	Silent	SNP	C	C	T	rs187940833		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr18:43204731C>T	ENST00000255226.6	+	2	918	c.102C>T	c.(100-102)tcC>tcT	p.S34S	SLC14A2_ENST00000586448.1_Silent_p.S34S	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	34					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTCGACATCCCCGGATACTC	0.572																																							uc010dnj.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(100-102)TCC>TCT		solute carrier family 14 (urea transporter),							82.0	78.0	79.0					18																	43204731		2203	4300	6503	SO:0001819	synonymous_variant	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43204731C>T	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.102C>T	18.37:g.43204731C>T						SLC14A2_uc002lbb.2_Silent_p.S34S|SLC14A2_uc002lbe.2_Silent_p.S34S	p.S34S	NM_007163	NP_009094	Q15849	UT2_HUMAN			3	423	+			34					A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	c.102C>T	CCDS11924.1																																																																																				0.572	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			13	34	0	0	0	0.00245	0	13	34				
SMAD2	4087	broad.mit.edu	37	18	45394791	45394791	+	Silent	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr18:45394791G>A	ENST00000402690.2	-	5	952	c.558C>T	c.(556-558)atC>atT	p.I186I	SMAD2_ENST00000587353.1_5'UTR|SMAD2_ENST00000591214.1_Silent_p.I156I|SMAD2_ENST00000586040.1_Silent_p.I156I|SMAD2_ENST00000262160.6_Silent_p.I186I|SMAD2_ENST00000356825.4_Silent_p.I156I	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	186					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						GTTCTGTTAGGATCTCGGTGT	0.443																																							uc002lcy.2		NA																	0				large_intestine(3)|lung(1)|central_nervous_system(1)	5						c.(556-558)ATC>ATT		Sma- and Mad-related protein 2 isoform 1							99.0	91.0	94.0					18																	45394791		2203	4300	6503	SO:0001819	synonymous_variant	4087				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:45394791G>A	U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.558C>T	18.37:g.45394791G>A						SMAD2_uc002lcz.2_Silent_p.I186I|SMAD2_uc010xdc.1_Silent_p.I156I|SMAD2_uc010xdd.1_Silent_p.I156I	p.I186I	NM_005901	NP_005892	Q15796	SMAD2_HUMAN			5	806	-			186						Silent	SNP	ENST00000402690.2	37	c.558C>T	CCDS11934.1																																																																																				0.443	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901		14	18	0	0	0	0.003163	0	14	18				
CDH19	28513	broad.mit.edu	37	18	64211367	64211367	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr18:64211367G>A	ENST00000540086.1	-	7	1301	c.1055C>T	c.(1054-1056)gCt>gTt	p.A352V	CDH19_ENST00000262150.2_Missense_Mutation_p.A352V	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	454	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AGTGGTGGAAGCCTCAGTGTG	0.418																																							uc002lkc.1		NA																	0				ovary(1)|skin(1)	2						c.(1054-1056)GCT>GTT		cadherin 19, type 2 preproprotein							135.0	120.0	125.0					18																	64211367		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64211367G>A	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.1055C>T	18.37:g.64211367G>A	ENSP00000439593:p.Ala352Val					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.A352V|CDH19_uc002lkd.2_Missense_Mutation_p.A352V	p.A352V	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			7	1193	-		Esophageal squamous(42;0.0132)	352			Cadherin 3.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.1055C>T	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	G	6.174	0.400307	0.11696	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.51817	0.69;0.69	5.62	4.7	0.59300	Cadherin (4);Cadherin-like (1);	0.493446	0.23811	N	0.044333	T	0.40423	0.1116	L	0.35542	1.07	0.09310	N	1	P;B	0.35944	0.529;0.292	B;B	0.39935	0.168;0.314	T	0.43475	-0.9389	10	0.87932	D	0	.	11.4183	0.49965	0.0:0.2302:0.7698:0.0	.	352;352	F5H1K0;Q9H159	.;CAD19_HUMAN	V	352;352;297	ENSP00000262150:A352V;ENSP00000439593:A352V	ENSP00000262150:A352V	A	-	2	0	CDH19	62362347	0.693000	0.27728	0.035000	0.18076	0.142000	0.21351	4.375000	0.59549	2.822000	0.97130	0.650000	0.86243	GCT		0.418	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		5	28	0	0	0	0.000602	0	5	28				
TMX3	54495	broad.mit.edu	37	18	66344377	66344377	+	Silent	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr18:66344377C>T	ENST00000299608.2	-	16	1474	c.1158G>A	c.(1156-1158)ctG>ctA	p.L386L		NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	386					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TGATGACACCCAGTGGCAGGC	0.413																																							uc002lkf.2		NA																	0				skin(1)	1						c.(1156-1158)CTG>CTA		thioredoxin domain containing 10 precursor							115.0	112.0	113.0					18																	66344377		2203	4300	6503	SO:0001819	synonymous_variant	54495				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr18:66344377C>T	BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"""Protein disulfide isomerases"""	24718	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 13"""		"""thioredoxin domain containing 10"""	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.1158G>A	18.37:g.66344377C>T						TMX3_uc010xez.1_Silent_p.L245L	p.L386L	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN			16	1293	-			386			Helical; (Potential).		B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Silent	SNP	ENST00000299608.2	37	c.1158G>A	CCDS32840.1																																																																																				0.413	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		32	56	0	0	0	0.001786	0	32	56				
SALL3	27164	broad.mit.edu	37	18	76754025	76754025	+	Silent	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr18:76754025G>T	ENST00000537592.2	+	2	2034	c.2034G>T	c.(2032-2034)ccG>ccT	p.P678P	SALL3_ENST00000536229.3_Silent_p.P545P|SALL3_ENST00000575389.2_Silent_p.P678P	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	678					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGACGGACCCGAACCAGTGCG	0.607																																							uc002lmt.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(2032-2034)CCG>CCT		sal-like 3							33.0	31.0	32.0					18																	76754025		2199	4298	6497	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754025G>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2034G>T	18.37:g.76754025G>T						SALL3_uc010dra.2_Silent_p.P285P	p.P678P	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	2034	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	678					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.2034G>T	CCDS12013.1																																																																																				0.607	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		6	10	1	0	4.096e-09	0.001168	6.21181e-09	6	10				
ADAMTSL5	339366	broad.mit.edu	37	19	1506627	1506627	+	Missense_Mutation	SNP	C	C	A	rs552870097		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr19:1506627C>A	ENST00000413997.2	-	11	1105	c.1106G>T	c.(1105-1107)cGc>cTc	p.R369L	ADAMTSL5_ENST00000395467.2_Intron|ADAMTSL5_ENST00000330475.4_Missense_Mutation_p.R359L|ADAMTSL5_ENST00000590562.1_5'UTR|CTB-25B13.9_ENST00000590252.1_RNA			Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	369	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.					extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGTGGGCGCGGCCGCGGGT	0.662																																							uc002ltd.2		NA																	0					0						c.(1075-1077)CGC>CTC		ADAMTS-like 5 precursor							48.0	48.0	48.0					19																	1506627		2203	4298	6501	SO:0001583	missense	339366					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:1506627C>A	BC040620	CCDS12071.1	19p13.3	2008-02-05	2006-02-07	2006-02-07		ENSG00000185761			27912	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain containing 6"""	THSD6			Standard	NM_213604		Approved		uc002ltd.2	Q6ZMM2		ENST00000413997.2:c.1106G>T	19.37:g.1506627C>A	ENSP00000399364:p.Arg369Leu					ADAMTSL5_uc010dsl.2_Missense_Mutation_p.R128L|ADAMTSL5_uc010xgq.1_Missense_Mutation_p.R369L	p.R359L	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1520	-		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)	359			NTR.		B4DXK7|Q8IW95	Missense_Mutation	SNP	ENST00000413997.2	37	c.1076G>T		.	.	.	.	.	.	.	.	.	.	C	14.12	2.439143	0.43326	.	.	ENSG00000185761	ENST00000413997;ENST00000330475	T;T	0.66280	-0.2;-0.19	4.14	4.14	0.48551	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.068959	0.64402	D	0.000016	T	0.72977	0.3528	M	0.71581	2.175	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.60682	0.878;0.839	T	0.75238	-0.3388	10	0.52906	T	0.07	.	11.7781	0.51997	0.0:1.0:0.0:0.0	.	369;359	B4DXK7;Q6ZMM2	.;ATL5_HUMAN	L	369;359	ENSP00000399364:R369L;ENSP00000327608:R359L	ENSP00000327608:R359L	R	-	2	0	ADAMTSL5	1457627	0.892000	0.30473	0.947000	0.38551	0.149000	0.21700	2.433000	0.44793	2.143000	0.66587	0.555000	0.69702	CGC		0.662	ADAMTSL5-202	KNOWN	basic	protein_coding	protein_coding		XM_294919		21	8	1	0	2.39556e-15	0.00278	4.25259e-15	21	8				
ZNRF4	148066	broad.mit.edu	37	19	5455572	5455572	+	Silent	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr19:5455572C>T	ENST00000222033.4	+	1	147	c.70C>T	c.(70-72)Ctg>Ttg	p.L24L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	24						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GTCACTGCCTCTGAGCCACGC	0.662																																							uc002mca.3		NA																	0				large_intestine(2)	2						c.(70-72)CTG>TTG		zinc and ring finger 4 precursor							41.0	48.0	46.0					19																	5455572		2117	4227	6344	SO:0001819	synonymous_variant	148066					integral to membrane	zinc ion binding	g.chr19:5455572C>T	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.70C>T	19.37:g.5455572C>T							p.L24L	NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	147	+			24					A8K886|O75866	Silent	SNP	ENST00000222033.4	37	c.70C>T	CCDS42475.1																																																																																				0.662	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		13	34	0	0	0	0.001368	0	13	34				
ZNF878	729747	broad.mit.edu	37	19	12155620	12155620	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr19:12155620T>C	ENST00000547628.1	-	4	733	c.596A>G	c.(595-597)tAt>tGt	p.Y199C	CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.Y246C|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CTTACATTCATAGGGTTTTTT	0.388																																							uc002mta.1		NA																	0					0						c.(736-738)TAT>TGT		zinc finger protein 878							135.0	150.0	145.0					19																	12155620		2161	4288	6449	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155620T>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.596A>G	19.37:g.12155620T>C	ENSP00000447931:p.Tyr199Cys						p.Y246C	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN			5	737	-			199			C2H2-type 4.			Missense_Mutation	SNP	ENST00000547628.1	37	c.737A>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	T	11.34	1.608563	0.28623	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.25414	1.8	1.27	0.0566	0.14319	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31136	0.0787	M	0.81341	2.54	0.20873	N	0.99984	B	0.29590	0.25	B	0.35278	0.199	T	0.37911	-0.9685	9	0.72032	D	0.01	.	5.5523	0.17097	0.6599:0.0:0.0:0.34	.	199	C9JN71	ZN878_HUMAN	C	199;246	ENSP00000447931:Y199C	ENSP00000447931:Y199C	Y	-	2	0	AC022415.4;ZNF878	12016620	0.000000	0.05858	0.015000	0.15790	0.399000	0.30720	-1.260000	0.02858	-0.270000	0.09285	-1.035000	0.02400	TAT		0.388	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		5	125	0	0	0	0.000602	0	5	125				
GIPC1	10755	broad.mit.edu	37	19	14591225	14591225	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr19:14591225C>A	ENST00000393033.4	-	6	816	c.547G>T	c.(547-549)Ggg>Tgg	p.G183W	GIPC1_ENST00000586027.1_Missense_Mutation_p.G183W|GIPC1_ENST00000345425.2_Missense_Mutation_p.G183W|GIPC1_ENST00000393028.1_Missense_Mutation_p.G86W|GIPC1_ENST00000591349.1_Missense_Mutation_p.G86W|GIPC1_ENST00000393029.3_Missense_Mutation_p.G86W	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	183	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						AGGCTCTGCCCGTTAATGGCC	0.657											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(33;78 923 2910 41023 52850)	Pancreas(33;78 923 2910 41023 52850)	uc002myt.2		NA																	0					0						c.(547-549)GGG>TGG		regulator of G-protein signalling 19 interacting							69.0	70.0	70.0					19																	14591225		2203	4300	6503	SO:0001583	missense	10755				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding	g.chr19:14591225C>A	AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"""chromosome 19 open reading frame 3"", ""regulator of G-protein signalling 19 interacting protein 1"""	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.547G>T	19.37:g.14591225C>A	ENSP00000376753:p.Gly183Trp		OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	696	GIPC1_uc002myu.2_Missense_Mutation_p.G183W|GIPC1_uc002myv.2_Missense_Mutation_p.G86W|GIPC1_uc002myw.2_Missense_Mutation_p.G86W|GIPC1_uc002myx.2_Missense_Mutation_p.G183W|GIPC1_uc002myy.2_Missense_Mutation_p.G86W	p.G183W	NM_005716	NP_005707	O14908	GIPC1_HUMAN			6	817	-			183			PDZ.		A8K4I3|A8MZG3|Q9BTC9	Missense_Mutation	SNP	ENST00000393033.4	37	c.547G>T	CCDS12310.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792903	0.90453	.	.	ENSG00000123159	ENST00000393033;ENST00000345425;ENST00000393029;ENST00000393028;ENST00000351277	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.96	4.96	0.65561	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.70780	0.3263	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78237	-0.2282	10	0.87932	D	0	-22.5813	15.6737	0.77297	0.0:1.0:0.0:0.0	.	183	O14908	GIPC1_HUMAN	W	183;183;86;86;183	ENSP00000376753:G183W;ENSP00000340698:G183W;ENSP00000376749:G86W;ENSP00000376748:G86W	ENSP00000340698:G183W	G	-	1	0	GIPC1	14452225	0.999000	0.42202	0.999000	0.59377	0.912000	0.54170	7.189000	0.77747	2.311000	0.77944	0.561000	0.74099	GGG		0.657	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2			14	70	1	0	2.23348e-06	0.004007	3.06268e-06	14	70				
NWD1	284434	broad.mit.edu	37	19	16890214	16890214	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr19:16890214G>A	ENST00000552788.1	+	10	2669	c.2669G>A	c.(2668-2670)gGc>gAc	p.G890D	NWD1_ENST00000549814.1_Missense_Mutation_p.G890D|NWD1_ENST00000523826.1_Missense_Mutation_p.G684D|NWD1_ENST00000339803.6_Missense_Mutation_p.G755D|NWD1_ENST00000379808.3_Missense_Mutation_p.G890D|NWD1_ENST00000524140.2_Missense_Mutation_p.G890D			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	890							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACCCAGGATGGCATCATGGCT	0.552											OREG0025337	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002neu.3		NA																	0				skin(3)|ovary(2)|pancreas(2)	7						c.(2668-2670)GGC>GAC		RecName: Full=NACHT and WD repeat domain-containing protein 1;							226.0	179.0	195.0					19																	16890214		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16890214G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2669G>A	19.37:g.16890214G>A	ENSP00000447224:p.Gly890Asp		OREG0025337	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	713	NWD1_uc002net.3_Missense_Mutation_p.G755D|NWD1_uc002nev.3_Missense_Mutation_p.G684D	p.G890D			Q149M9	NWD1_HUMAN			12	3091	+			890			WD 2.		C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.2669G>A		.	.	.	.	.	.	.	.	.	.	-	16.22	3.061794	0.55432	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.59364	1.05;0.27;1.05;2.79;2.79;2.79	5.08	5.08	0.68730	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.126562	0.52532	D	0.000075	T	0.70395	0.3219	M	0.86953	2.85	0.30400	N	0.780138	P;P;P	0.50369	0.624;0.934;0.891	B;P;P	0.51016	0.206;0.656;0.541	T	0.73569	-0.3941	10	0.34782	T	0.22	-18.9591	14.0031	0.64446	0.0:0.0:1.0:0.0	.	890;890;755	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	D	755;890;890;890;684;890;755	ENSP00000428579:G890D;ENSP00000447548:G890D;ENSP00000369136:G890D;ENSP00000428955:G684D;ENSP00000447224:G890D;ENSP00000340159:G755D	ENSP00000340159:G755D	G	+	2	0	NWD1	16751214	1.000000	0.71417	0.779000	0.31741	0.433000	0.31745	4.148000	0.58085	2.390000	0.81377	0.479000	0.44913	GGC		0.552	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		36	58	0	0	0	0.003271	0	36	58				
GDF1	2657	broad.mit.edu	37	19	18989736	18989736	+	Intron	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr19:18989736C>T	ENST00000247005.6	-	6	1034				CERS1_ENST00000427170.2_Intron|AC005197.2_ENST00000597769.1_RNA|CERS1_ENST00000542296.2_Silent_p.*240*|CERS1_ENST00000429504.2_Silent_p.*338*			P27539	GDF1_HUMAN	growth differentiation factor 1						growth (GO:0040007)	extracellular space (GO:0005615)											CCTCCACACTCACTCGGCTTT	0.642																																							uc002nkj.2		NA																	0					0						c.(1012-1014)TGA>TAA		LAG1 homolog, ceramide synthase 1 isoform 2							38.0	43.0	42.0					19																	18989736		2101	4205	6306	SO:0001627	intron_variant	10715				ceramide biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|microsome	sphingosine N-acyltransferase activity	g.chr19:18989736C>T	M62302	CCDS42526.1	19p13.11	2014-01-30			ENSG00000130283	ENSG00000130283		"""Endogenous ligands"""	4214	protein-coding gene	gene with protein product		602880				2034669	Standard	NM_001492		Approved			P27539		ENST00000247005.6:c.311+2G>A	19.37:g.18989736C>T						GDF1_uc002nki.1_Intron|LASS1_uc010ebx.2_Silent_p.*240*	p.*338*	NM_198207	NP_937850	P27544	CERS1_HUMAN			6	1085	-			338					O43344	Silent	SNP	ENST00000247005.6	37	c.1013G>A	CCDS42526.1																																																																																				0.642	GDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465926.1	NM_001492		6	12	0	0	0	0.001168	0	6	12				
ZNF536	9745	broad.mit.edu	37	19	30934662	30934662	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr19:30934662G>T	ENST00000355537.3	+	2	340	c.193G>T	c.(193-195)Gag>Tag	p.E65*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	65					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGCATCCCTGGAGGAGAAGGC	0.677																																							uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(193-195)GAG>TAG		zinc finger protein 536							35.0	39.0	38.0					19																	30934662		2203	4300	6503	SO:0001587	stop_gained	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934662G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.193G>T	19.37:g.30934662G>T	ENSP00000347730:p.Glu65*					ZNF536_uc010edd.1_Nonsense_Mutation_p.E65*	p.E65*	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	331	+	Esophageal squamous(110;0.0834)		65					A2RU18	Nonsense_Mutation	SNP	ENST00000355537.3	37	c.193G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886975	0.52014	.	.	ENSG00000198597	ENST00000355537	.	.	.	5.67	4.62	0.57501	.	0.511423	0.22207	N	0.063159	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.7325	15.9777	0.80083	0.0:0.0:0.8642:0.1358	.	.	.	.	X	65	.	ENSP00000347730:E65X	E	+	1	0	ZNF536	35626502	1.000000	0.71417	0.557000	0.28306	0.573000	0.36030	7.979000	0.88103	1.379000	0.46325	0.462000	0.41574	GAG		0.677	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		20	34	1	0	5.26018e-13	0.001882	8.98941e-13	20	34				
HPN	3249	broad.mit.edu	37	19	35551631	35551631	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr19:35551631G>T	ENST00000262626.2	+	9	1546	c.721G>T	c.(721-723)Ggg>Tgg	p.G241W	HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Missense_Mutation_p.G241W|HPN_ENST00000597419.1_Missense_Mutation_p.G83W	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	241	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GGTCTACCACGGGGGCTATCT	0.642																																							uc002nxq.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(721-723)GGG>TGG		hepsin	Coagulation factor VIIa(DB00036)						84.0	79.0	81.0					19																	35551631		2203	4300	6503	SO:0001583	missense	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35551631G>T		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.721G>T	19.37:g.35551631G>T	ENSP00000262626:p.Gly241Trp					HPN_uc002nxr.1_Missense_Mutation_p.G241W|HPN_uc002nxs.1_Missense_Mutation_p.G83W|HPN_uc010xsh.1_Missense_Mutation_p.G210W|HPN_uc002nxt.1_Missense_Mutation_p.G125W|LOC100128675_uc010xsi.1_Intron	p.G241W	NM_002151	NP_002142	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		10	966	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		241			Extracellular (Potential).|Peptidase S1.		B2RDS4	Missense_Mutation	SNP	ENST00000262626.2	37	c.721G>T	CCDS32993.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207030	0.58343	.	.	ENSG00000105707	ENST00000262626;ENST00000392226;ENST00000541345	D;D	0.88664	-2.41;-2.41	4.86	4.86	0.63082	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.226580	0.45361	D	0.000362	D	0.91116	0.7203	L	0.42245	1.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.994	D	0.91097	0.4911	10	0.72032	D	0.01	.	10.5477	0.45070	0.0:0.0:0.8073:0.1927	.	213;241;241	B7Z1L4;B2ZDQ2;P05981	.;.;HEPS_HUMAN	W	241;241;213	ENSP00000262626:G241W;ENSP00000376060:G241W	ENSP00000262626:G241W	G	+	1	0	HPN	40243471	1.000000	0.71417	0.988000	0.46212	0.739000	0.42172	3.808000	0.55598	2.522000	0.85027	0.484000	0.47621	GGG		0.642	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		16	61	1	0	8.60227e-14	0.004007	1.48673e-13	16	61				
ZNF568	374900	broad.mit.edu	37	19	37441573	37441573	+	Silent	SNP	A	A	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr19:37441573A>T	ENST00000333987.7	+	7	2024	c.1518A>T	c.(1516-1518)gtA>gtT	p.V506V	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000415168.1_Silent_p.V442V	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	506					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATGTACAGTATGTGGAAAAG	0.383																																							uc002ofc.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1516-1518)GTA>GTT		zinc finger protein 568							67.0	73.0	71.0					19																	37441573		2166	4286	6452	SO:0001819	synonymous_variant	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37441573A>T	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.1518A>T	19.37:g.37441573A>T						ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Silent_p.V430V|ZNF568_uc010efe.2_Silent_p.V430V|ZNF568_uc010eff.1_Intron	p.V506V	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		7	2033	+	Esophageal squamous(110;0.183)		506			C2H2-type 11.		B4DS92|E7ER33|Q6N060|Q8NA64	Silent	SNP	ENST00000333987.7	37	c.1518A>T	CCDS42558.1																																																																																				0.383	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		15	47	0	0	0	0.004007	0	15	47				
ACP7	390928	broad.mit.edu	37	19	39592142	39592142	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr19:39592142C>A	ENST00000331256.5	+	11	1352	c.1078C>A	c.(1078-1080)Ccg>Acg	p.P360T	PAPL_ENST00000594229.1_Silent_p.T318T	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		360						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										CTACACCAACCCGCGAGGGCC	0.572																																							uc002oki.2		NA																	0					0						c.(1078-1080)CCG>ACG		iron/zinc purple acid phosphatase-like protein							59.0	52.0	54.0					19																	39592142		2203	4300	6503	SO:0001583	missense	390928					extracellular region	acid phosphatase activity|metal ion binding	g.chr19:39592142C>A																												ENST00000331256.5:c.1078C>A	19.37:g.39592142C>A	ENSP00000327557:p.Pro360Thr					PAPL_uc010egl.2_Silent_p.T318T	p.P360T	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN			11	1352	+			360					B2RN68	Missense_Mutation	SNP	ENST00000331256.5	37	c.1078C>A	CCDS33018.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079243	0.36662	.	.	ENSG00000183760	ENST00000331256	.	.	.	5.24	4.21	0.49690	.	0.056054	0.64402	D	0.000001	T	0.50257	0.1605	M	0.64567	1.98	0.80722	D	1	P	0.41978	0.767	B	0.34452	0.183	T	0.56739	-0.7929	9	0.56958	D	0.05	-11.7997	11.37	0.49694	0.0:0.9128:0.0:0.0872	.	360	Q6ZNF0	PAPL_HUMAN	T	360	.	ENSP00000327557:P360T	P	+	1	0	AC011443.1	44283982	1.000000	0.71417	0.989000	0.46669	0.041000	0.13682	6.591000	0.74090	1.442000	0.47568	0.655000	0.94253	CCG		0.572	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1			12	13	1	0	0.00316338	0.003163	0.00382276	12	13				
FCGBP	8857	broad.mit.edu	37	19	40420076	40420076	+	Missense_Mutation	SNP	G	G	T	rs145294097		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr19:40420076G>T	ENST00000221347.6	-	6	2925	c.2918C>A	c.(2917-2919)aCg>aAg	p.T973K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	973	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCAAAGTCCGTGCGCACGAC	0.587																																							uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(2917-2919)ACG>AAG		Fc fragment of IgG binding protein precursor							66.0	61.0	62.0					19																	40420076		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40420076G>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2918C>A	19.37:g.40420076G>T	ENSP00000221347:p.Thr973Lys						p.T973K	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		6	2926	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		973			VWFD 2.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.2918C>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658099	0.47467	.	.	ENSG00000090920	ENST00000221347	T	0.59906	0.23	4.84	3.78	0.43462	von Willebrand factor, type D domain (3);	0.000000	0.64402	D	0.000002	T	0.73590	0.3606	M	0.79123	2.44	0.34974	D	0.75344	D	0.76494	0.999	D	0.79784	0.993	T	0.80621	-0.1301	10	0.39692	T	0.17	.	12.5623	0.56288	0.0833:0.0:0.9167:0.0	.	973	Q9Y6R7	FCGBP_HUMAN	K	973	ENSP00000221347:T973K	ENSP00000221347:T973K	T	-	2	0	FCGBP	45111916	1.000000	0.71417	0.100000	0.21137	0.007000	0.05969	6.379000	0.73154	1.244000	0.43870	0.561000	0.74099	ACG		0.587	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		10	35	1	0	0.000442599	0.006214	0.000561525	10	35				
SULT2A1	6822	broad.mit.edu	37	19	48374763	48374763	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr19:48374763C>A	ENST00000222002.3	-	6	946	c.807G>T	c.(805-807)ttG>ttT	p.L269F		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	269					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	TCTCTTGGAACAATTTATCAA	0.443																																							uc002phr.2		NA																	0				ovary(1)|pancreas(1)	2						c.(805-807)TTG>TTT		bile-salt sulfotransferase 2A1							160.0	148.0	152.0					19																	48374763		2203	4300	6503	SO:0001583	missense	6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48374763C>A	X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.807G>T	19.37:g.48374763C>A	ENSP00000222002:p.Leu269Phe						p.L269F	NM_003167	NP_003158	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	6	947	-		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)	269						Missense_Mutation	SNP	ENST00000222002.3	37	c.807G>T	CCDS12707.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.373041	0.42105	.	.	ENSG00000105398	ENST00000222002	D	0.82167	-1.58	4.23	-8.46	0.00942	Sulfotransferase domain (1);	2.701310	0.02050	N	0.049965	T	0.72358	0.3450	L	0.34521	1.04	0.09310	N	1	P	0.51537	0.946	P	0.47118	0.538	T	0.70586	-0.4831	10	0.39692	T	0.17	.	1.3046	0.02085	0.2762:0.2502:0.3254:0.1482	.	269	Q06520	ST2A1_HUMAN	F	269	ENSP00000222002:L269F	ENSP00000222002:L269F	L	-	3	2	SULT2A1	53066575	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.293000	0.01145	-1.804000	0.01241	-1.058000	0.02302	TTG		0.443	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167		21	51	1	0	6.44725e-10	0.002299	1.01125e-09	21	51				
TSKS	60385	broad.mit.edu	37	19	50245190	50245190	+	Silent	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr19:50245190G>T	ENST00000246801.3	-	9	1531	c.1449C>A	c.(1447-1449)ggC>ggA	p.G483G	TSKS_ENST00000358830.3_Silent_p.G283G	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	483					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CAGGAGTCAGGCCCCTCTGCT	0.592																																							uc002ppm.2		NA																	0				large_intestine(1)|skin(1)	2						c.(1447-1449)GGC>GGA		testis-specific kinase substrate							132.0	117.0	122.0					19																	50245190		2203	4300	6503	SO:0001819	synonymous_variant	60385						protein binding	g.chr19:50245190G>T	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1449C>A	19.37:g.50245190G>T							p.G483G	NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	9	1460	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	483					Q8WXJ0	Silent	SNP	ENST00000246801.3	37	c.1449C>A	CCDS12780.1																																																																																				0.592	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		17	40	1	0	1.56452e-12	0.007413	2.60564e-12	17	40				
ASPDH	554235	broad.mit.edu	37	19	51015483	51015483	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr19:51015483A>T	ENST00000389208.4	-	6	779	c.718T>A	c.(718-720)Ttt>Att	p.F240I	JOSD2_ENST00000601423.1_5'Flank|JOSD2_ENST00000598418.1_5'Flank|JOSD2_ENST00000595669.1_5'Flank|ASPDH_ENST00000376916.3_Missense_Mutation_p.F135I|JOSD2_ENST00000391815.3_5'Flank|ASPDH_ENST00000597030.1_5'UTR	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	240					NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						TGCACAGCAAAGCTTCGGCCC	0.692																																							uc010enz.2		NA																	0					0						c.(718-720)TTT>ATT		aspartate dehydrogenase isoform 1							22.0	29.0	27.0					19																	51015483		2201	4300	6501	SO:0001583	missense	554235				NAD biosynthetic process|NADP catabolic process		aspartate dehydrogenase activity|NADP binding	g.chr19:51015483A>T		CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.718T>A	19.37:g.51015483A>T	ENSP00000373860:p.Phe240Ile					JOSD2_uc002psn.1_5'Flank|JOSD2_uc002pso.1_5'Flank|JOSD2_uc002psp.1_5'Flank|JOSD2_uc002psq.1_5'Flank|ASPDH_uc002psr.3_Missense_Mutation_p.F135I	p.F240I	NM_001114598	NP_001108070	A6ND91	ASPD_HUMAN			6	780	-			240					Q6NZ37	Missense_Mutation	SNP	ENST00000389208.4	37	c.718T>A	CCDS46153.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673363	0.67928	.	.	ENSG00000204653	ENST00000376916;ENST00000389208	T;T	0.43688	0.94;0.94	3.47	3.47	0.39725	Aspartate dehydrogenase (1);	0.162482	0.39475	N	0.001352	T	0.37376	0.1001	L	0.53249	1.67	0.47214	D	0.999354	P;P	0.44139	0.827;0.793	B;B	0.42030	0.373;0.186	T	0.21724	-1.0237	10	0.48119	T	0.1	-7.0331	8.6782	0.34191	1.0:0.0:0.0:0.0	.	240;135	A6ND91;A6ND91-2	ASPD_HUMAN;.	I	135;240	ENSP00000366114:F135I;ENSP00000373860:F240I	ENSP00000366114:F135I	F	-	1	0	ASPDH	55707295	0.568000	0.26635	0.691000	0.30163	0.939000	0.58152	3.245000	0.51407	1.374000	0.46228	0.379000	0.24179	TTT		0.692	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464861.1	NM_001024656		4	20	0	0	0	0.000602	0	4	20				
IGLON5	402665	broad.mit.edu	37	19	51826946	51826947	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr19:51826946_51826947GG>TT	ENST00000270642.8	+	3	189_190	c.189_190GG>TT	c.(187-192)gtGGcc>gtTTcc	p.A64S		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	64	Ig-like C2-type 1.					extracellular region (GO:0005576)				large_intestine(5)|lung(6)|prostate(1)	12						TGACCCGCGTGGCCTGGCTGAA	0.639																																							uc002pwc.2		NA																	0					0						c.(187-192)GTGGCC>GTTTCC		IgLON family member 5 precursor																																				SO:0001583	missense	402665					extracellular region		g.chr19:51826946_51826947GG>TT		CCDS46158.1	19q13.33	2013-01-29			ENSG00000142549	ENSG00000142549		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	34550	protein-coding gene	gene with protein product							Standard	NM_001101372		Approved	LOC402665	uc002pwc.2	A6NGN9	OTTHUMG00000154422	Exception_encountered	19.37:g.51826946_51826947delinsTT	ENSP00000270642:p.Ala64Ser						p.A64S	NM_001101372	NP_001094842	A6NGN9	IGLO5_HUMAN			3	189_190	+			64			Ig-like C2-type 1.			Missense_Mutation	DNP	ENST00000270642.8	37	c.189_190GG>TT	CCDS46158.1																																																																																				0.639	IGLON5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335149.1	NM_001101372		7	27	0	0	0	0.004672	0	7	27				
PRKCG	5582	broad.mit.edu	37	19	54407997	54407997	+	Splice_Site	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr19:54407997G>T	ENST00000263431.3	+	16	2046		c.e16+1		PRKCG_ENST00000542049.1_Intron|PRKCG_ENST00000540413.1_Splice_Site	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CTGCAAGGGGGTGAGAGCCCC	0.562																																							uc002qcq.1		NA																	0				lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.e16+1		protein kinase C, gamma							62.0	49.0	53.0					19																	54407997		2203	4300	6503	SO:0001630	splice_region_variant	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54407997G>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1764+1G>T	19.37:g.54407997G>T						PRKCG_uc010yeg.1_Splice_Site_p.G588_splice|PRKCG_uc010yeh.1_Intron	p.G588_splice	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	16	2046	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)							B7Z8Q0	Splice_Site	SNP	ENST00000263431.3	37	c.1764_splice	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.864696	0.71949	.	.	ENSG00000126583	ENST00000540413;ENST00000263431	.	.	.	4.53	3.46	0.39613	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8202	0.52235	0.0:0.0:0.8235:0.1765	.	.	.	.	.	-1	.	.	.	+	.	.	PRKCG	59099809	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.354000	0.97083	1.221000	0.43506	0.561000	0.74099	.		0.562	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739	Intron	4	6	1	0	0.000602214	0.000602	0.000755655	4	6				
VSTM1	284415	broad.mit.edu	37	19	54561782	54561782	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr19:54561782C>T	ENST00000338372.2	-	3	308	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	VSTM1_ENST00000425006.2_Missense_Mutation_p.V45M|VSTM1_ENST00000366170.2_Intron|VSTM1_ENST00000376626.1_Missense_Mutation_p.V45M	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	45	Ig-like V-type.				immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TTCAGGGTCACATTGCTCTCG	0.522																																							uc002qcw.3		NA																	0					0						c.(133-135)GTG>ATG		V-set and transmembrane domain containing 1							104.0	103.0	103.0					19																	54561782		2203	4300	6503	SO:0001583	missense	284415					integral to membrane		g.chr19:54561782C>T	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.133G>A	19.37:g.54561782C>T	ENSP00000343366:p.Val45Met					VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Missense_Mutation_p.V45M	p.V45M	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN		GBM - Glioblastoma multiforme(134;0.165)	3	309	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		45			Ig-like V-type.		B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	ENST00000338372.2	37	c.133G>A	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514624	0.44763	.	.	ENSG00000189068	ENST00000338372;ENST00000376626;ENST00000425006	T;T;T	0.01215	5.16;5.16;5.16	3.36	2.31	0.28768	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.30118	N	0.010367	T	0.05868	0.0153	M	0.84511	2.7	0.09310	N	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.07252	-1.0782	9	.	.	.	-11.3576	6.6667	0.23044	0.0:0.8639:0.0:0.1361	.	45;45	D2DJS4;Q6UX27	.;VSTM1_HUMAN	M	45	ENSP00000343366:V45M;ENSP00000365813:V45M;ENSP00000413006:V45M	.	V	-	1	0	VSTM1	59253594	0.811000	0.29063	0.139000	0.22197	0.072000	0.16883	1.197000	0.32211	0.767000	0.33267	0.313000	0.20887	GTG		0.522	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481		15	86	0	0	0	0.00245	0	15	86				
NLRP4	147945	broad.mit.edu	37	19	56390295	56390295	+	Silent	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr19:56390295C>A	ENST00000301295.6	+	9	3254	c.2832C>A	c.(2830-2832)gcC>gcA	p.A944A	NLRP4_ENST00000346986.5_Silent_p.A888A|NLRP4_ENST00000587891.1_Silent_p.A869A	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	944					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCTGTGAGGCCCTGAGACACC	0.592																																							uc002qmd.3		NA																	0				ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(2830-2832)GCC>GCA		NLR family, pyrin domain containing 4							78.0	68.0	72.0					19																	56390295		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56390295C>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2832C>A	19.37:g.56390295C>A						NLRP4_uc002qmf.2_Silent_p.A869A|NLRP4_uc010etf.2_Silent_p.A719A	p.A944A	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	9	3254	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	944					Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.2832C>A	CCDS12936.1																																																																																				0.592	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		15	25	1	0	6.31663e-08	0.003163	9.39291e-08	15	25				
GALP	85569	broad.mit.edu	37	19	56691994	56691994	+	Silent	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr19:56691994C>T	ENST00000357330.2	+	3	209	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	GALP_ENST00000440823.1_Intron|GALP_ENST00000590002.1_Intron	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	43					behavioral response to starvation (GO:0042595)|defense response to bacterium (GO:0042742)|neuropeptide signaling pathway (GO:0007218)|regulation of appetite (GO:0032098)|response to insulin (GO:0032868)	extracellular region (GO:0005576)				lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		TGGCTACCTTCTGGGTCCCGG	0.592																																							uc002qmo.1		NA																	0					0						c.(127-129)CTG>TTG		galanin-like peptide isoform 1 precursor							123.0	89.0	101.0					19																	56691994		2203	4300	6503	SO:0001819	synonymous_variant	85569				neuropeptide signaling pathway	extracellular region	hormone activity	g.chr19:56691994C>T	AF188493	CCDS12940.1, CCDS46202.1	19q13.42	2013-02-26	2007-08-24			ENSG00000197487		"""Endogenous ligands"""	24840	protein-coding gene	gene with protein product		611178				10601261	Standard	NM_033106		Approved		uc002qmo.1	Q9UBC7		ENST00000357330.2:c.127C>T	19.37:g.56691994C>T						GALP_uc010eti.2_Intron	p.L43L	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN		GBM - Glioblastoma multiforme(193;0.0507)	3	209	+		Colorectal(82;0.000147)|Ovarian(87;0.243)	43					A1KXL3	Silent	SNP	ENST00000357330.2	37	c.127C>T	CCDS12940.1																																																																																				0.592	GALP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457832.1	NM_033106		13	31	0	0	0	0.001855	0	13	31				
PEG3	5178	broad.mit.edu	37	19	57326879	57326879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr19:57326879G>T	ENST00000326441.9	-	10	3294	c.2931C>A	c.(2929-2931)tgC>tgA	p.C977*	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Nonsense_Mutation_p.C977*|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Nonsense_Mutation_p.C851*|PEG3_ENST00000598410.1_Nonsense_Mutation_p.C853*	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	977					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TATGAGCAAAGCACTCCCCAC	0.483																																							uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2929-2931)TGC>TGA		paternally expressed 3 isoform 1							112.0	105.0	107.0					19																	57326879		2203	4300	6503	SO:0001587	stop_gained	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326879G>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2931C>A	19.37:g.57326879G>T	ENSP00000326581:p.Cys977*					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Nonsense_Mutation_p.C948*|PEG3_uc002qnv.2_Nonsense_Mutation_p.C977*|PEG3_uc002qnw.2_Nonsense_Mutation_p.C853*|PEG3_uc002qnx.2_Nonsense_Mutation_p.C851*|PEG3_uc010etr.2_Nonsense_Mutation_p.C977*	p.C977*	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	3282	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	977			C2H2-type 5.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Nonsense_Mutation	SNP	ENST00000326441.9	37	c.2931C>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	40	7.968656	0.98588	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	.	.	.	4.55	2.25	0.28309	.	0.827482	0.10459	N	0.672217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-6.1732	7.4346	0.27148	0.094:0.0:0.7404:0.1656	.	.	.	.	X	977	.	ENSP00000326581:C977X	C	-	3	2	ZIM2	62018691	0.113000	0.22115	0.911000	0.35937	0.540000	0.34992	0.337000	0.19841	1.283000	0.44513	0.655000	0.94253	TGC		0.483	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			12	92	1	0	2.27111e-07	0.001368	3.28129e-07	12	92				
ZNF460	10794	broad.mit.edu	37	19	57803456	57803456	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr19:57803456G>C	ENST00000360338.3	+	3	1869	c.1547G>C	c.(1546-1548)aGc>aCc	p.S516T	ZNF460_ENST00000537645.1_Missense_Mutation_p.S475T	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	516					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTTGTGAGAGCACAGATCTC	0.527																																							uc002qog.2		NA																	0					0						c.(1546-1548)AGC>ACC		zinc finger protein 460							121.0	113.0	115.0					19																	57803456		2203	4300	6503	SO:0001583	missense	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57803456G>C	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.1547G>C	19.37:g.57803456G>C	ENSP00000353491:p.Ser516Thr					ZNF460_uc010ygv.1_Missense_Mutation_p.S475T	p.S516T	NM_006635	NP_006626	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1869	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	516					A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	ENST00000360338.3	37	c.1547G>C	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	G	8.954	0.968812	0.18659	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.16073	2.37;2.37	1.82	0.716	0.18191	.	.	.	.	.	T	0.12817	0.0311	L	0.50919	1.6	0.09310	N	1	B	0.28350	0.208	B	0.19148	0.024	T	0.26224	-1.0109	9	0.27082	T	0.32	.	6.0421	0.19740	0.299:0.0:0.701:0.0	.	516	Q14592	ZN460_HUMAN	T	475;516	ENSP00000446167:S475T;ENSP00000353491:S516T	ENSP00000353491:S516T	S	+	2	0	ZNF460	62495268	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.130000	0.10498	0.313000	0.23062	0.650000	0.86243	AGC		0.527	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		13	65	0	0	0	0.001368	0	13	65				
ZNF551	90233	broad.mit.edu	37	19	58199379	58199379	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr19:58199379G>C	ENST00000282296.5	+	3	1921	c.1736G>C	c.(1735-1737)aGa>aCa	p.R579T	AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.R563T			Q7Z340	ZN551_HUMAN	zinc finger protein 551	579					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAACACCAGAGAGTTCACACT	0.453																																							uc002qpw.3		NA																	0				ovary(1)	1						c.(1687-1689)AGA>ACA		zinc finger protein 551							85.0	87.0	86.0					19																	58199379		2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58199379G>C	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1736G>C	19.37:g.58199379G>C	ENSP00000282296:p.Arg579Thr					ZNF551_uc002qpv.3_Missense_Mutation_p.R506T|ZNF776_uc002qpx.2_Intron	p.R563T	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1911	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	579			C2H2-type 11.		B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.1688G>C	CCDS12959.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.01|16.01	3.001462|3.001462	0.54254|0.54254	.|.	.|.	ENSG00000204519|ENSG00000228006	ENST00000356715;ENST00000282296;ENST00000359821|ENST00000541705	.|.	.|.	.|.	2.79|2.79	1.73|1.73	0.24493|0.24493	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.50514|0.50514	0.1620|0.1620	M|M	0.64567|0.64567	1.98|1.98	0.30796|0.30796	N|N	0.740364|0.740364	D|.	0.59767|.	0.986|.	P|.	0.56648|.	0.803|.	T|T	0.52961|0.52961	-0.8505|-0.8505	8|6	0.87932|0.38643	D|T	0|0.18	.|.	8.8941|8.8941	0.35453|0.35453	0.1198:0.0:0.8802:0.0|0.1198:0.0:0.8802:0.0	.|.	579|.	Q7Z340|.	ZN551_HUMAN|.	T|C	579;563;362|9	.|.	ENSP00000282296:R563T|ENSP00000437781:S9C	R|S	+|-	2|2	0|0	ZNF551|AC004017.1	62891191|62891191	0.000000|0.000000	0.05858|0.05858	0.012000|0.012000	0.15200|0.15200	0.464000|0.464000	0.32679|0.32679	-0.079000|-0.079000	0.11357|0.11357	0.500000|0.500000	0.27991|0.27991	0.561000|0.561000	0.74099|0.74099	AGA|TCT		0.453	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		8	77	0	0	0	0.00308	0	8	77				
MYT1L	23040	broad.mit.edu	37	2	1914044	1914045	+	Missense_Mutation	DNP	GG	GG	CC			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr2:1914044_1914045GG>CC	ENST00000399161.2	-	13	2531_2532	c.1784_1785CC>GG	c.(1783-1785)tCC>tGG	p.S595W	MYT1L_ENST00000428368.2_Missense_Mutation_p.S593W	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	595					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGCTGGACTTGGACACGTCGCA	0.614																																							uc002qxe.2		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(1783-1785)TCC>TGG		myelin transcription factor 1-like																																				SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1914044_1914045GG>CC	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1784_1785delinsCC	2.37:g.1914044_1914045delinsCC	ENSP00000382114:p.Ser595Trp					MYT1L_uc002qxd.2_Missense_Mutation_p.S593W|MYT1L_uc010ewl.1_RNA	p.S595W	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	13	2611_2612	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	595					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	DNP	ENST00000399161.2	37	c.1784_1785CC>GG																																																																																					0.614	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		10	14	0	0	0	0.004672	0	10	14				
FAM49A	81553	broad.mit.edu	37	2	16742303	16742303	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr2:16742303C>G	ENST00000381323.3	-	9	885	c.665G>C	c.(664-666)tGc>tCc	p.C222S	FAM49A_ENST00000406434.1_Missense_Mutation_p.C222S|FAM49A_ENST00000355549.2_Missense_Mutation_p.C222S	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	222						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TGTGCTGAGGCAGTCTGTGGT	0.428																																							uc010exm.1		NA																	0					0						c.(664-666)TGC>TCC		family with sequence similarity 49, member A							244.0	224.0	231.0					2																	16742303		2203	4300	6503	SO:0001583	missense	81553					intracellular		g.chr2:16742303C>G	AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.665G>C	2.37:g.16742303C>G	ENSP00000370724:p.Cys222Ser					FAM49A_uc002rck.1_Missense_Mutation_p.C222S	p.C222S	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)		8	813	-	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		222					B3KNZ1|Q53QW2	Missense_Mutation	SNP	ENST00000381323.3	37	c.665G>C	CCDS1688.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077118	0.94000	.	.	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549	T;T;T	0.46451	0.87;0.87;0.87	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.56307	0.1976	M	0.77820	2.39	0.80722	D	1	P	0.41188	0.741	P	0.46208	0.507	T	0.61307	-0.7089	10	0.66056	D	0.02	-16.3706	18.5102	0.90913	0.0:1.0:0.0:0.0	.	222	Q9H0Q0	FA49A_HUMAN	S	222	ENSP00000370724:C222S;ENSP00000384771:C222S;ENSP00000347744:C222S	ENSP00000347744:C222S	C	-	2	0	FAM49A	16605784	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.818000	0.86416	2.697000	0.92050	0.655000	0.94253	TGC		0.428	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	NM_030797		15	43	0	0	0	0.006122	0	15	43				
CLIP4	79745	broad.mit.edu	37	2	29366763	29366763	+	Silent	SNP	G	G	A	rs144223606	byFrequency	TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr2:29366763G>A	ENST00000320081.5	+	7	1092	c.837G>A	c.(835-837)acG>acA	p.T279T	CLIP4_ENST00000404424.1_Silent_p.T279T|CLIP4_ENST00000401605.1_Silent_p.T279T|CLIP4_ENST00000401617.2_Silent_p.T172T	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	279										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					CAATGCTTACGTCACTTGGCC	0.463													G|||	5	0.000998403	0.0	0.0	5008	,	,		19912	0.0		0.005	False		,,,				2504	0.0						uc002rmv.2		NA																	0				ovary(1)	1						c.(835-837)ACG>ACA		CAP-GLY domain containing linker protein family,		G		4,4402	8.1+/-20.4	0,4,2199	248.0	220.0	229.0		837	-9.8	0.0	2	dbSNP_134	229	19,8581	13.3+/-46.6	0,19,4281	no	coding-synonymous	CLIP4	NM_024692.4		0,23,6480	AA,AG,GG		0.2209,0.0908,0.1768		279/706	29366763	23,12983	2203	4300	6503	SO:0001819	synonymous_variant	79745							g.chr2:29366763G>A	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.837G>A	2.37:g.29366763G>A						CLIP4_uc002rmu.2_Silent_p.T279T|CLIP4_uc010ezm.1_Silent_p.T279T|CLIP4_uc002rmw.2_RNA|CLIP4_uc010ymn.1_Silent_p.T261T	p.T279T	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN			7	1076	+	Acute lymphoblastic leukemia(172;0.155)		279					A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Silent	SNP	ENST00000320081.5	37	c.837G>A	CCDS1770.1																																																																																				0.463	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		7	182	0	0	0	0.001984	0	7	182				
LTBP1	4052	broad.mit.edu	37	2	33498809	33498809	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr2:33498809G>A	ENST00000404816.2	+	16	3057	c.2704G>A	c.(2704-2706)Gag>Aag	p.E902K	LTBP1_ENST00000404525.1_Missense_Mutation_p.E523K|LTBP1_ENST00000390003.4_Missense_Mutation_p.E577K|LTBP1_ENST00000402934.1_Missense_Mutation_p.E523K|LTBP1_ENST00000418533.2_Missense_Mutation_p.E576K|LTBP1_ENST00000407925.1_Missense_Mutation_p.E576K|LTBP1_ENST00000354476.3_Missense_Mutation_p.E903K			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	902	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TATATGCTACGAGGGCTACAG	0.348																																							uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(2707-2709)GAG>AAG		latent transforming growth factor beta binding							76.0	74.0	75.0					2																	33498809		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33498809G>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2704G>A	2.37:g.33498809G>A	ENSP00000386043:p.Glu902Lys					LTBP1_uc002rot.2_Missense_Mutation_p.E577K|LTBP1_uc002rou.2_Missense_Mutation_p.E576K|LTBP1_uc002rov.2_Missense_Mutation_p.E523K|LTBP1_uc010ymz.1_Missense_Mutation_p.E576K|LTBP1_uc010yna.1_Missense_Mutation_p.E523K	p.E903K	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			16	2707	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	902			EGF-like 4; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2707G>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	11.25	1.583914	0.28268	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000468091	D;D;D;D;T;D;D;D	0.95690	-2.26;-2.26;-3.78;-2.26;-1.31;-2.27;-3.78;-1.57	5.52	3.68	0.42216	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.89567	0.6752	N	0.20881	0.62	0.80722	D	1	B;B;B;B;B;B	0.23591	0.025;0.002;0.001;0.01;0.01;0.088	B;B;B;B;B;B	0.21546	0.011;0.002;0.003;0.009;0.009;0.035	D	0.84064	0.0376	9	0.51188	T	0.08	.	6.5271	0.22307	0.2112:0.1322:0.6566:0.0	.	902;576;523;576;577;903	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	K	902;903;577;576;523;523;576;220	ENSP00000386043:E902K;ENSP00000346467:E903K;ENSP00000374653:E577K;ENSP00000393057:E576K;ENSP00000384373:E523K;ENSP00000385359:E523K;ENSP00000384091:E576K;ENSP00000417591:E220K	ENSP00000346467:E903K	E	+	1	0	LTBP1	33352313	0.997000	0.39634	0.888000	0.34837	0.093000	0.18481	2.383000	0.44354	0.773000	0.33404	0.467000	0.42956	GAG		0.348	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		8	14	0	0	0	0.004482	0	8	14				
NRXN1	9378	broad.mit.edu	37	2	50724812	50724812	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr2:50724812G>T	ENST00000406316.2	-	14	4014	c.2538C>A	c.(2536-2538)aaC>aaA	p.N846K	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000402717.3_Missense_Mutation_p.N838K|NRXN1_ENST00000401669.2_Missense_Mutation_p.N846K|NRXN1_ENST00000405472.3_Missense_Mutation_p.N838K|NRXN1_ENST00000404971.1_Missense_Mutation_p.N886K|NRXN1_ENST00000406859.3_Missense_Mutation_p.N846K	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	846	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CAGTCTCTATGTTATGGAACT	0.403																																							uc010fbq.2		NA																	0				ovary(2)	2						c.(2656-2658)AAC>AAA		neurexin 1 isoform alpha2 precursor							85.0	79.0	81.0					2																	50724812		1916	4129	6045	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50724812G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2538C>A	2.37:g.50724812G>T	ENSP00000384311:p.Asn846Lys					NRXN1_uc002rxb.3_Missense_Mutation_p.N518K|NRXN1_uc002rxe.3_Missense_Mutation_p.N846K|NRXN1_uc002rxc.1_RNA	p.N886K	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		14	4135	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	212			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2658C>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.090120	0.76756	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.97	4.18	0.49190	.	0.000000	0.85682	D	0.000000	D	0.86464	0.5939	M	0.73962	2.25	0.37453	D	0.91489	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.997	D	0.88104	0.2821	10	0.51188	T	0.08	.	12.5093	0.55999	0.1342:0.0:0.8658:0.0	.	886;846;838	Q9ULB1-3;F8WB18;A7E294	.;.;.	K	886;846;838;846;887;838;846	ENSP00000385142:N886K;ENSP00000384311:N846K;ENSP00000434015:N838K;ENSP00000385017:N846K;ENSP00000385434:N838K;ENSP00000385681:N846K	ENSP00000385017:N846K	N	-	3	2	NRXN1	50578316	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.988000	0.56951	0.867000	0.35654	0.561000	0.74099	AAC		0.403	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			26	50	1	0	4.43304e-23	0.00632	8.6397e-23	26	50				
CYP26B1	56603	broad.mit.edu	37	2	72360350	72360350	+	Silent	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr2:72360350G>T	ENST00000001146.2	-	5	1151	c.948C>A	c.(946-948)ccC>ccA	p.P316P	CYP26B1_ENST00000412253.1_Silent_p.P125P|CYP26B1_ENST00000546307.1_Silent_p.P241P	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	316					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CCAGCACAGTGGGGTGCTTCA	0.657																																							uc002sih.1		NA																	0				skin(2)	2						c.(946-948)CCC>CCA		cytochrome P450, family 26, subfamily b,							25.0	26.0	26.0					2																	72360350		2201	4299	6500	SO:0001819	synonymous_variant	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72360350G>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.948C>A	2.37:g.72360350G>T						CYP26B1_uc010yra.1_Silent_p.P299P|CYP26B1_uc010yrb.1_Silent_p.P241P	p.P316P	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN			5	948	-			316					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Silent	SNP	ENST00000001146.2	37	c.948C>A	CCDS1919.1																																																																																				0.657	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		7	26	1	0	0.00198382	0.001984	0.0024229	7	26				
CYP26B1	56603	broad.mit.edu	37	2	72362006	72362006	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr2:72362006T>A	ENST00000001146.2	-	4	948	c.745A>T	c.(745-747)Aag>Tag	p.K249*	CYP26B1_ENST00000412253.1_Nonsense_Mutation_p.K58*|CYP26B1_ENST00000546307.1_Nonsense_Mutation_p.K174*	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	249					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CGGATGGCCTTCTCCAGCCCC	0.612																																							uc002sih.1		NA																	0				skin(2)	2						c.(745-747)AAG>TAG		cytochrome P450, family 26, subfamily b,							130.0	104.0	113.0					2																	72362006		2203	4300	6503	SO:0001587	stop_gained	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72362006T>A		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.745A>T	2.37:g.72362006T>A	ENSP00000001146:p.Lys249*					CYP26B1_uc010yra.1_Nonsense_Mutation_p.K232*|CYP26B1_uc010yrb.1_Nonsense_Mutation_p.K174*	p.K249*	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN			4	745	-			249					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Nonsense_Mutation	SNP	ENST00000001146.2	37	c.745A>T	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	T	37	6.478097	0.97598	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307;ENST00000474509	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-9.4144	14.0444	0.64695	0.0:0.0:0.0:1.0	.	.	.	.	X	249;58;174;174	.	ENSP00000001146:K249X	K	-	1	0	CYP26B1	72215514	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	6.242000	0.72376	2.058000	0.61347	0.533000	0.62120	AAG		0.612	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		10	55	0	0	0	0.001855	0	10	55				
REG1A	5967	broad.mit.edu	37	2	79350037	79350037	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr2:79350037G>T	ENST00000233735.1	+	5	495	c.392G>T	c.(391-393)aGt>aTt	p.S131I		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	131	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GCCCCAAGCAGTGTTAATCCT	0.577																																							uc002snz.2		NA																	0					0						c.(391-393)AGT>ATT		regenerating islet-derived 1 alpha precursor							111.0	106.0	108.0					2																	79350037		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79350037G>T		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.392G>T	2.37:g.79350037G>T	ENSP00000233735:p.Ser131Ile					REG1A_uc010ysd.1_Missense_Mutation_p.S131I	p.S131I	NM_002909	NP_002900	P05451	REG1A_HUMAN			5	495	+			131			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.392G>T	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	g	0.058	-1.230825	0.01518	.	.	ENSG00000115386	ENST00000233735	T	0.07908	3.15	2.38	-4.77	0.03219	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.762880	0.03432	N	0.207896	T	0.07728	0.0194	L	0.51422	1.61	0.09310	N	1	B	0.22604	0.072	B	0.23018	0.043	T	0.23190	-1.0195	10	0.29301	T	0.29	.	1.8584	0.03184	0.3253:0.2212:0.3449:0.1086	.	131	P05451	REG1A_HUMAN	I	131	ENSP00000233735:S131I	ENSP00000233735:S131I	S	+	2	0	REG1A	79203545	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.064000	0.00622	-3.434000	0.00164	-1.289000	0.01358	AGT		0.577	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		36	84	1	0	5.04308e-16	0.00623	9.02238e-16	36	84				
CKAP2L	150468	broad.mit.edu	37	2	113514765	113514765	+	Silent	SNP	G	G	C	rs145362538		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr2:113514765G>C	ENST00000302450.6	-	4	261	c.183C>G	c.(181-183)acC>acG	p.T61T	CKAP2L_ENST00000541405.1_5'UTR|CKAP2L_ENST00000481732.1_Intron	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	61						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CAACATGGTTGGTAACATCAT	0.353																																							uc002tie.2		NA																	0					0						c.(181-183)ACC>ACG		cytoskeleton associated protein 2-like							109.0	117.0	115.0					2																	113514765		2203	4300	6503	SO:0001819	synonymous_variant	150468					centrosome		g.chr2:113514765G>C	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.183C>G	2.37:g.113514765G>C						CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_Intron|CKAP2L_uc010yxq.1_5'UTR	p.T61T	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN			4	262	-			61					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Silent	SNP	ENST00000302450.6	37	c.183C>G	CCDS2100.1																																																																																				0.353	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		10	134	0	0	0	0.001368	0	10	134				
LRP1B	53353	broad.mit.edu	37	2	141130675	141130675	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr2:141130675T>A	ENST00000389484.3	-	69	11641	c.10670A>T	c.(10669-10671)cAg>cTg	p.Q3557L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3557	LDL-receptor class A 27. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACACCGGAACTGATCTTTGGA	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(10669-10671)CAG>CTG		low density lipoprotein-related protein 1B							149.0	139.0	143.0					2																	141130675		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141130675T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10670A>T	2.37:g.141130675T>A	ENSP00000374135:p.Gln3557Leu	TSP Lung(27;0.18)					p.Q3557L	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	69	11642	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3557			Extracellular (Potential).|LDL-receptor class A 27.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10670A>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641092	0.67244	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.50548	0.74	5.54	5.54	0.83059	.	0.000000	0.64402	U	0.000002	T	0.69672	0.3137	M	0.78344	2.41	0.58432	D	0.999997	D	0.69078	0.997	D	0.80764	0.994	T	0.74067	-0.3784	10	0.72032	D	0.01	.	15.6733	0.77295	0.0:0.0:0.0:1.0	.	3557	Q9NZR2	LRP1B_HUMAN	L	3557;3495	ENSP00000374135:Q3557L	ENSP00000374135:Q3557L	Q	-	2	0	LRP1B	140847145	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	7.669000	0.83911	2.109000	0.64355	0.460000	0.39030	CAG		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		27	38	0	0	0	0.005443	0	27	38				
ACVR1C	130399	broad.mit.edu	37	2	158406824	158406824	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr2:158406824C>T	ENST00000243349.8	-	4	985	c.625G>A	c.(625-627)Gtg>Atg	p.V209M	ACVR1C_ENST00000335450.7_Missense_Mutation_p.V129M|ACVR1C_ENST00000348328.5_Intron|ACVR1C_ENST00000409680.3_Missense_Mutation_p.V159M	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CCATGCCACACCTCACCAAAT	0.438																																							uc002tzk.3		NA																	0				lung(3)|ovary(2)|skin(2)	7						c.(625-627)GTG>ATG		activin A receptor, type IC isoform 1							218.0	211.0	213.0					2																	158406824		2203	4300	6503	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158406824C>T	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.625G>A	2.37:g.158406824C>T	ENSP00000243349:p.Val209Met					ACVR1C_uc002tzl.3_Missense_Mutation_p.V129M|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Missense_Mutation_p.V159M	p.V209M	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN			4	868	-			209			ATP (By similarity).|Protein kinase.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000243349.8	37	c.625G>A	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112710	0.94339	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000335450	D;D;D	0.98362	-4.89;-4.89;-4.89	6.16	6.16	0.99307	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000175	D	0.99573	0.9846	H	0.99659	4.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.97649	1.0153	10	0.87932	D	0	.	20.4549	0.99139	0.0:1.0:0.0:0.0	.	129;209	Q8NER5-3;Q8NER5	.;ACV1C_HUMAN	M	209;159;129	ENSP00000243349:V209M;ENSP00000387168:V159M;ENSP00000335178:V129M	ENSP00000243349:V209M	V	-	1	0	ACVR1C	158115070	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GTG		0.438	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		19	117	0	0	0	0.007413	0	19	117				
CDCA7	83879	broad.mit.edu	37	2	174231031	174231031	+	Silent	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr2:174231031C>T	ENST00000347703.3	+	7	963	c.819C>T	c.(817-819)tgC>tgT	p.C273C	CDCA7_ENST00000410101.3_Silent_p.C308C|CDCA7_ENST00000306721.3_Silent_p.C352C|CDCA7_ENST00000392567.2_Intron|CDCA7_ENST00000410019.3_Silent_p.C231C	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	273	Mediates transcriptional activity.				apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			GTCATCAATGCCGTCAGAAGA	0.433																																							uc002uid.1		NA																	0				ovary(1)	1						c.(817-819)TGC>TGT		cell division cycle associated 7 isoform 2							81.0	83.0	82.0					2																	174231031		2203	4300	6503	SO:0001819	synonymous_variant	83879				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:174231031C>T	BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.819C>T	2.37:g.174231031C>T						CDCA7_uc002uic.1_Silent_p.C352C|CDCA7_uc010zej.1_Silent_p.C308C|CDCA7_uc010zek.1_Silent_p.C231C	p.C273C	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.116)		7	950	+			273			Mediates transcriptional activity.		B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Silent	SNP	ENST00000347703.3	37	c.819C>T	CCDS2253.1																																																																																				0.433	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1	NM_031942		20	51	0	0	0	0.001523	0	20	51				
SPHKAP	80309	broad.mit.edu	37	2	228883255	228883255	+	Missense_Mutation	SNP	G	G	A	rs201294750		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr2:228883255G>A	ENST00000392056.3	-	7	2361	c.2315C>T	c.(2314-2316)tCt>tTt	p.S772F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S772F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	772						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCTAAGTGGAGAGCTGCTGGA	0.502																																							uc002vpq.2		NA																	0				skin(5)|ovary(4)|lung(1)	10						c.(2314-2316)TCT>TTT		sphingosine kinase type 1-interacting protein							207.0	206.0	207.0					2																	228883255		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228883255G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2315C>T	2.37:g.228883255G>A	ENSP00000375909:p.Ser772Phe					SPHKAP_uc002vpp.2_Missense_Mutation_p.S772F|SPHKAP_uc010zlx.1_Missense_Mutation_p.S772F	p.S772F	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2362	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	772					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2315C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	0.791	-0.758730	0.03019	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12774	2.65;2.65	5.67	0.265	0.15612	.	0.674727	0.15631	N	0.252383	T	0.08223	0.0205	L	0.34521	1.04	0.09310	N	1	B;B	0.33583	0.183;0.418	B;B	0.27076	0.015;0.076	T	0.23190	-1.0195	10	0.59425	D	0.04	.	5.4455	0.16533	0.0:0.2614:0.2715:0.4671	.	772;772	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	F	772	ENSP00000375909:S772F;ENSP00000339886:S772F	ENSP00000339886:S772F	S	-	2	0	SPHKAP	228591499	0.001000	0.12720	0.008000	0.14137	0.082000	0.17680	0.474000	0.22148	0.166000	0.19597	-1.085000	0.02201	TCT		0.502	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		25	91	0	0	0	0.004656	0	25	91				
ALPI	248	broad.mit.edu	37	2	233322984	233322984	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr2:233322984C>T	ENST00000295463.3	+	9	1126	c.1049C>T	c.(1048-1050)gCg>gTg	p.A350V		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	350					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.A350V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CTCACTGAGGCGGTCATGTTC	0.627																																							uc002vst.3		NA																	1	Substitution - Missense(1)	p.A350V(1)	central_nervous_system(1)	central_nervous_system(1)	1						c.(1048-1050)GCG>GTG		intestinal alkaline phosphatase precursor							81.0	74.0	77.0					2																	233322984		2203	4300	6503	SO:0001583	missense	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233322984C>T	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.1049C>T	2.37:g.233322984C>T	ENSP00000295463:p.Ala350Val					ALPI_uc002vsu.3_Missense_Mutation_p.A261V	p.A350V	NM_001631	NP_001622	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	9	1126	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	350					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	37	c.1049C>T	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113288	0.56398	.	.	ENSG00000163295	ENST00000295463	D	0.96265	-3.96	4.46	3.56	0.40772	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.170163	0.52532	D	0.000077	D	0.94781	0.8315	L	0.45137	1.4	0.33950	D	0.644281	P	0.41366	0.747	P	0.46940	0.532	D	0.96110	0.9076	10	0.48119	T	0.1	.	12.2143	0.54398	0.0:0.6695:0.3304:0.0	.	350	P09923	PPBI_HUMAN	V	350	ENSP00000295463:A350V	ENSP00000295463:A350V	A	+	2	0	ALPI	233031228	0.906000	0.30813	0.018000	0.16275	0.007000	0.05969	2.040000	0.41203	1.061000	0.40601	0.561000	0.74099	GCG		0.627	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		14	38	0	0	0	0.00245	0	14	38				
JAG1	182	broad.mit.edu	37	20	10623158	10623158	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr20:10623158G>C	ENST00000254958.5	-	21	3065	c.2550C>G	c.(2548-2550)caC>caG	p.H850Q	JAG1_ENST00000488480.1_RNA|JAG1_ENST00000423891.2_Missense_Mutation_p.H691Q	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	850	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TGGCACCACTGTGCCCTGGAG	0.537									Alagille Syndrome																														uc002wnw.2		NA																	0				lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(2548-2550)CAC>CAG		jagged 1 precursor							96.0	77.0	84.0					20																	10623158		2203	4300	6503	SO:0001583	missense	182	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10623158G>C	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2550C>G	20.37:g.10623158G>C	ENSP00000254958:p.His850Gln					JAG1_uc010gcd.1_Missense_Mutation_p.H408Q	p.H850Q	NM_000214	NP_000205	P78504	JAG1_HUMAN			21	3066	-			850			Extracellular (Potential).|EGF-like 16; calcium-binding (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	c.2550C>G	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643756	0.47258	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.91631	-2.88;-2.88	5.79	2.81	0.32909	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.191180	0.52532	D	0.000071	D	0.84520	0.5490	L	0.29908	0.895	0.35878	D	0.828712	B	0.27823	0.19	B	0.23275	0.045	T	0.80046	-0.1546	10	0.40728	T	0.16	.	8.5548	0.33474	0.2884:0.0:0.7116:0.0	.	850	P78504	JAG1_HUMAN	Q	850;691	ENSP00000254958:H850Q;ENSP00000389519:H691Q	ENSP00000254958:H850Q	H	-	3	2	JAG1	10571158	0.903000	0.30736	0.999000	0.59377	0.967000	0.64934	0.029000	0.13666	0.381000	0.24851	0.650000	0.86243	CAC		0.537	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		3	27	0	0	0	0.004672	0	3	27				
DOK5	55816	broad.mit.edu	37	20	53260108	53260108	+	Missense_Mutation	SNP	C	C	A	rs540597135		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr20:53260108C>A	ENST00000262593.5	+	7	1197	c.847C>A	c.(847-849)Cgc>Agc	p.R283S	DOK5_ENST00000395939.1_Missense_Mutation_p.R175S	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	283					MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			ACAGCTCTACCGCTTGCAAGG	0.662																																							uc002xwy.2		NA																	0				ovary(1)	1						c.(847-849)CGC>AGC		docking protein 5							45.0	41.0	43.0					20																	53260108		2203	4300	6503	SO:0001583	missense	55816						insulin receptor binding	g.chr20:53260108C>A	AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.847C>A	20.37:g.53260108C>A	ENSP00000262593:p.Arg283Ser					DOK5_uc010gin.2_Missense_Mutation_p.R175S|DOK5_uc002xwz.2_Missense_Mutation_p.R145S	p.R283S	NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Colorectal(105;0.202)		7	1067	+			283					Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Missense_Mutation	SNP	ENST00000262593.5	37	c.847C>A	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	C	4.903	0.167819	0.09339	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	D;D	0.90324	-1.63;-2.65	5.42	4.41	0.53225	.	0.417502	0.28109	N	0.016568	T	0.70701	0.3254	N	0.01874	-0.695	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.67181	-0.5735	10	0.07030	T	0.85	-5.522	7.2333	0.26055	0.3163:0.5372:0.1465:0.0	.	175;283	Q9P104-2;Q9P104	.;DOK5_HUMAN	S	283;175	ENSP00000262593:R283S;ENSP00000379270:R175S	ENSP00000262593:R283S	R	+	1	0	DOK5	52693515	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.953000	0.40352	2.533000	0.85409	0.655000	0.94253	CGC		0.662	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2			10	29	1	0	1.58986e-06	0.008291	2.19325e-06	10	29				
TAF4	6874	broad.mit.edu	37	20	60581652	60581652	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr20:60581652C>T	ENST00000252996.4	-	7	2136	c.2137G>A	c.(2137-2139)Gtg>Atg	p.V713M		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	713					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|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)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GCACTGGTCACGGTGGCCGCC	0.726																																							uc002ybs.2		NA																	0				ovary(2)|pancreas(1)	3						c.(2137-2139)GTG>ATG		TBP-associated factor 4							15.0	17.0	16.0					20																	60581652		2188	4275	6463	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60581652C>T	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2137G>A	20.37:g.60581652C>T	ENSP00000252996:p.Val713Met						p.V713M	NM_003185	NP_003176	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		7	2137	-	Breast(26;1e-08)		713					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.2137G>A	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513389	0.85389	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.26518	1.75;1.73	5.46	5.46	0.80206	.	0.350905	0.27482	N	0.019180	T	0.38134	0.1029	L	0.36672	1.1	0.45415	D	0.998396	D	0.71674	0.998	P	0.57324	0.818	T	0.03433	-1.1037	10	0.40728	T	0.16	-19.7746	19.2974	0.94128	0.0:1.0:0.0:0.0	.	713	O00268	TAF4_HUMAN	M	713;577	ENSP00000252996:V713M;ENSP00000399091:V577M	ENSP00000252996:V713M	V	-	1	0	TAF4	60015047	0.992000	0.36948	0.984000	0.44739	0.985000	0.73830	1.792000	0.38754	2.550000	0.86006	0.563000	0.77884	GTG		0.726	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		9	12	0	0	0	0.004482	0	9	12				
OPRL1	4987	broad.mit.edu	37	20	62729200	62729200	+	Silent	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr20:62729200G>T	ENST00000349451.3	+	5	691	c.279G>T	c.(277-279)ctG>ctT	p.L93L	OPRL1_ENST00000336866.2_Silent_p.L93L|OPRL1_ENST00000355631.4_Silent_p.L93L	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	93					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TCTTTAACCTGGCCCTGGCCG	0.572																																							uc002yic.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(277-279)CTG>CTT		opiate receptor-like 1							126.0	131.0	130.0					20																	62729200		2203	4300	6503	SO:0001819	synonymous_variant	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62729200G>T		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.279G>T	20.37:g.62729200G>T						OPRL1_uc002yid.2_Silent_p.L93L|OPRL1_uc002yif.3_Silent_p.L88L	p.L93L	NM_182647	NP_872588	P41146	OPRX_HUMAN			4	681	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		93			Helical; Name=2; (Potential).		Q8TD34|Q8WYH9|Q9H4K4	Silent	SNP	ENST00000349451.3	37	c.279G>T	CCDS13556.1																																																																																				0.572	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		47	94	1	0	4.0306e-16	0.00361	7.23927e-16	47	94				
PAXBP1	94104	broad.mit.edu	37	21	34123457	34123457	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr21:34123457C>A	ENST00000331923.4	-	9	1769	c.1580G>T	c.(1579-1581)cGt>cTt	p.R527L	PAXBP1_ENST00000290178.4_Missense_Mutation_p.R527L	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	527	Necessary and sufficient for interaction with PAX7. {ECO:0000250}.				muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGCAATGCGACGTTTTGCATG	0.463																																							uc002yqn.2		NA																	0				ovary(2)	2						c.(1579-1581)CGT>CTT		GC-rich sequence DNA-binding factor candidate							112.0	94.0	100.0					21																	34123457		2203	4300	6503	SO:0001583	missense	94104					cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:34123457C>A	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1580G>T	21.37:g.34123457C>A	ENSP00000328992:p.Arg527Leu					GCFC1_uc002yql.2_Missense_Mutation_p.R36L|GCFC1_uc002yqm.2_Missense_Mutation_p.R21L|GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.R527L	p.R527L	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN			9	1770	-			527					D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	c.1580G>T	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547692	0.86022	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.36520	1.68;1.25	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.61677	0.2366	M	0.78049	2.395	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.996	D;P;P	0.68353	0.957;0.906;0.891	T	0.61103	-0.7130	10	0.39692	T	0.17	-11.8073	18.6815	0.91547	0.0:1.0:0.0:0.0	.	527;527;36	Q9Y5B6-2;Q9Y5B6;B3KSC0	.;GCFC1_HUMAN;.	L	527	ENSP00000328992:R527L;ENSP00000290178:R527L	ENSP00000290178:R527L	R	-	2	0	GCFC1	33045328	0.997000	0.39634	1.000000	0.80357	0.969000	0.65631	3.473000	0.53122	2.517000	0.84864	0.557000	0.71058	CGT		0.463	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		10	41	1	0	0.00829132	0.008291	0.00988912	10	41				
KRTAP12-2	353323	broad.mit.edu	37	21	46086478	46086478	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr21:46086478C>T	ENST00000360770.3	-	1	366	c.326G>A	c.(325-327)aGc>aAc	p.S109N	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	109	23 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(1)|lung(3)	5						AGGCCTGCAGCTCACAGGCAC	0.642																																							uc002zfu.2		NA																	0					0						c.(325-327)AGC>AAC		keratin associated protein 12-2							59.0	67.0	64.0					21																	46086478		2167	4252	6419	SO:0001583	missense	353323					keratin filament		g.chr21:46086478C>T	AJ566389	CCDS42965.1	21q22.3	2006-03-13			ENSG00000221864	ENSG00000221864		"""Keratin associated proteins"""	20530	protein-coding gene	gene with protein product							Standard	NM_181684		Approved	KRTAP12.2, KAP12.2	uc002zfu.3	P59991	OTTHUMG00000057636	ENST00000360770.3:c.326G>A	21.37:g.46086478C>T	ENSP00000354001:p.Ser109Asn					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.S109N	NM_181684	NP_859012	P59991	KR122_HUMAN			1	367	-			109			23 X 5 AA approximate repeats.|18.		A6NIS1|A6NMS9|Q0VAS4	Missense_Mutation	SNP	ENST00000360770.3	37	c.326G>A	CCDS42965.1	.	.	.	.	.	.	.	.	.	.	c	12.16	1.854259	0.32791	.	.	ENSG00000221864	ENST00000360770;ENST00000539483	T	0.03386	3.95	3.55	2.56	0.30785	.	.	.	.	.	T	0.11922	0.0290	M	0.81112	2.525	0.09310	N	1	D	0.56287	0.975	P	0.58520	0.84	T	0.14448	-1.0472	9	0.72032	D	0.01	.	3.6424	0.08172	0.2473:0.6176:0.0:0.1351	.	109	P59991	KR122_HUMAN	N	109;59	ENSP00000354001:S109N	ENSP00000354001:S109N	S	-	2	0	KRTAP12-2	44910906	0.999000	0.42202	0.743000	0.31040	0.102000	0.19082	0.009000	0.13219	1.509000	0.48786	0.407000	0.27541	AGC		0.642	KRTAP12-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128039.1	NM_181684		11	63	0	0	0	0.001855	0	11	63				
KREMEN1	83999	broad.mit.edu	37	22	29521313	29521313	+	Silent	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr22:29521313C>T	ENST00000407188.1	+	5	534	c.534C>T	c.(532-534)taC>taT	p.Y178Y	KREMEN1_ENST00000400335.4_Silent_p.Y180Y|KREMEN1_ENST00000327813.5_Silent_p.Y180Y|KREMEN1_ENST00000400338.2_Silent_p.Y180Y			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	178	WSC. {ECO:0000255|PROSITE- ProRule:PRU00558}.				cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						ACTGGAAGTACGGGGAGGCAG	0.527																																							uc011akm.1		NA																	0				ovary(3)|lung(2)	5						c.(538-540)TAC>TAT		kringle-containing transmembrane protein 1							159.0	170.0	166.0					22																	29521313		2154	4259	6413	SO:0001819	synonymous_variant	83999				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding	g.chr22:29521313C>T	AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"""kringle containing transmembrane protein"""	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.534C>T	22.37:g.29521313C>T						KREMEN1_uc003ael.2_Silent_p.Y180Y|KREMEN1_uc011akn.1_Silent_p.Y63Y	p.Y180Y	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN			5	553	+			178			Extracellular (Potential).|WSC.		B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Silent	SNP	ENST00000407188.1	37	c.540C>T	CCDS43000.2																																																																																				0.527	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320947.1			54	74	0	0	0	0.00361	0	54	74				
SLC5A1	6523	broad.mit.edu	37	22	32498113	32498113	+	Silent	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr22:32498113C>T	ENST00000266088.4	+	13	1804	c.1554C>T	c.(1552-1554)ccC>ccT	p.P518P	SLC5A1_ENST00000543737.1_Silent_p.P391P	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	518					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	GCAACTGTCCCACGATTATCT	0.488																																							uc003amc.2		NA																	0				skin(1)	1						c.(1552-1554)CCC>CCT		solute carrier family 5 (sodium/glucose							328.0	255.0	280.0					22																	32498113		2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32498113C>T		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1554C>T	22.37:g.32498113C>T						SLC5A1_uc011alz.1_Silent_p.P391P	p.P518P	NM_000343	NP_000334	P13866	SC5A1_HUMAN			13	1786	+			518			Extracellular (Potential).		B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.1554C>T	CCDS13902.1																																																																																				0.488	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		4	54	0	0	0	0.000248	0	4	54				
PRR5	55615	broad.mit.edu	37	22	45110519	45110519	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr22:45110519C>A	ENST00000336985.6	+	2	460	c.183C>A	c.(181-183)gaC>gaA	p.D61E	PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.D61E|PRR5_ENST00000006251.7_Missense_Mutation_p.D52E|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.D61E|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.D61E|PRR5_ENST00000403581.1_Missense_Mutation_p.D84E|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.D52E	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	61	Interaction with RICTOR.				cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		GGCTGCCCGACCAGGAGCTCT	0.647																																							uc003bfd.2		NA																	0				skin(2)	2						c.(181-183)GAC>GAA		Rho GTPase activating protein 8 isoform 2							85.0	80.0	82.0					22																	45110519		2203	4300	6503	SO:0001583	missense	553158							g.chr22:45110519C>A	AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"""protein observed with Rictor-1"""	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000336985.6:c.183C>A	22.37:g.45110519C>A	ENSP00000337464:p.Asp61Glu					PRR5_uc003bew.1_Missense_Mutation_p.D52E|PRR5_uc003bex.1_5'UTR|PRR5_uc010gzt.1_Missense_Mutation_p.D84E|PRR5_uc010gzu.1_Intron|PRR5_uc003bey.1_Missense_Mutation_p.D52E|PRR5_uc003bez.1_5'UTR|PRR5-ARHGAP8_uc003bfc.2_Missense_Mutation_p.D61E|PRR5-ARHGAP8_uc011aqi.1_Missense_Mutation_p.D52E|PRR5_uc003bfa.1_5'UTR|PRR5_uc003bfb.1_Missense_Mutation_p.D61E|PRR5_uc003bfe.1_RNA	p.D61E	NM_181335	NP_851852					2	455	+								B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000336985.6	37	c.183C>A	CCDS14058.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.722996	0.30503	.	.	ENSG00000186654;ENSG00000186654;ENSG00000186654;ENSG00000186654;ENSG00000186654;ENSG00000186654;ENSG00000248405;ENSG00000248405;ENSG00000241484;ENSG00000241484	ENST00000432186;ENST00000006251;ENST00000403581;ENST00000336985;ENST00000403696;ENST00000457960;ENST00000361473;ENST00000352766;ENST00000517296;ENST00000389773	T;T;T;T;T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;1.59;-0.98;2.42;-0.98;-0.98;2.42	4.09	3.07	0.35406	.	0.551628	0.14984	N	0.287096	T	0.63780	0.2540	N	0.19112	0.55	0.21822	N	0.999525	B;B;P;B	0.45348	0.002;0.053;0.856;0.001	B;B;P;B	0.47603	0.011;0.047;0.551;0.007	T	0.55147	-0.8186	10	0.52906	T	0.07	.	8.1346	0.31048	0.0:0.835:0.0:0.165	.	84;61;61;61	B1AHF6;B1AHC4;B1AHC3;P85299	.;.;.;PRR5_HUMAN	E	52;52;84;61;61;52;61;61;61;52	ENSP00000400925:D52E;ENSP00000006251:D52E;ENSP00000384848:D84E;ENSP00000337464:D61E;ENSP00000384746:D61E;ENSP00000410215:D52E;ENSP00000354732:D61E;ENSP00000262731:D61E;ENSP00000429240:D61E;ENSP00000374423:D52E	ENSP00000262731:D61E	D	+	3	2	PRR5;PRR5-ARHGAP8;ARHGAP8	43489183	0.998000	0.40836	1.000000	0.80357	0.545000	0.35147	0.152000	0.16302	2.298000	0.77334	0.655000	0.94253	GAC		0.647	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2	NM_001017528		13	45	1	0	6.72482e-11	0.003163	1.06206e-10	13	45				
CELSR1	9620	broad.mit.edu	37	22	46762935	46762935	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr22:46762935C>A	ENST00000262738.3	-	29	8159	c.8160G>T	c.(8158-8160)aaG>aaT	p.K2720N		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2720					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCAGGTGCAGCTTCCTCCCGC	0.706											OREG0026655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003bhw.1		NA																	0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(8158-8160)AAG>AAT		cadherin EGF LAG seven-pass G-type receptor 1							40.0	33.0	36.0					22																	46762935		2199	4299	6498	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46762935C>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8160G>T	22.37:g.46762935C>A	ENSP00000262738:p.Lys2720Asn		OREG0026655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	941		p.K2720N	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	29	8160	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2720			Cytoplasmic (Potential).		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.8160G>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	c	12.86	2.065851	0.36470	.	.	ENSG00000075275	ENST00000262738	T	0.39787	1.06	4.57	4.57	0.56435	.	0.000000	0.64402	U	0.000003	T	0.44265	0.1285	M	0.73598	2.24	0.80722	D	1	P	0.40602	0.723	B	0.40165	0.321	T	0.51036	-0.8756	10	0.62326	D	0.03	.	10.2793	0.43530	0.0:0.9057:0.0:0.0943	.	2720	Q9NYQ6	CELR1_HUMAN	N	2720	ENSP00000262738:K2720N	ENSP00000262738:K2720N	K	-	3	2	CELSR1	45141599	0.810000	0.29049	0.994000	0.49952	0.054000	0.15201	1.246000	0.32803	2.260000	0.74910	0.567000	0.79289	AAG		0.706	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		9	11	1	0	1.12685e-05	0.004482	1.49594e-05	9	11				
CHL1	10752	broad.mit.edu	37	3	424181	424181	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr3:424181A>T	ENST00000256509.2	+	18	2645	c.2003A>T	c.(2002-2004)aAc>aTc	p.N668I	CHL1_ENST00000397491.2_Missense_Mutation_p.N652I|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTTGAAGGAAACAAAGAAGAG	0.363																																							uc003bou.2		NA																	0				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(1954-1956)AAC>ATC		cell adhesion molecule with homology to L1CAM							87.0	103.0	98.0					3																	424181		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:424181A>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2003A>T	3.37:g.424181A>T	ENSP00000256509:p.Asn668Ile					CHL1_uc003bot.2_Missense_Mutation_p.N668I|CHL1_uc003bow.1_Missense_Mutation_p.N652I|CHL1_uc011asi.1_Missense_Mutation_p.N668I|uc003box.1_Intron	p.N652I	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	17	2226	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	652			Fibronectin type-III 1.|Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.1955A>T	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.156388	0.38119	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.56275	0.47;0.47	4.75	4.75	0.60458	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.159094	0.56097	D	0.000034	T	0.58637	0.2136	L	0.33137	0.985	0.09310	N	1	B;P;D	0.63046	0.355;0.541;0.992	B;B;D	0.67725	0.189;0.258;0.953	T	0.52109	-0.8619	10	0.72032	D	0.01	.	10.6895	0.45862	0.9212:0.0:0.0788:0.0	.	652;652;668	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	I	668;652	ENSP00000256509:N668I;ENSP00000380628:N652I	ENSP00000256509:N668I	N	+	2	0	CHL1	399181	0.643000	0.27269	0.988000	0.46212	0.980000	0.70556	2.543000	0.45752	1.892000	0.54788	0.482000	0.46254	AAC		0.363	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		15	47	0	0	0	0.004007	0	15	47				
GRM7	2917	broad.mit.edu	37	3	6903419	6903419	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr3:6903419C>T	ENST00000357716.4	+	1	618	c.344C>T	c.(343-345)gCg>gTg	p.A115V	GRM7_ENST00000403881.1_Missense_Mutation_p.A115V|GRM7_ENST00000402647.2_Missense_Mutation_p.A115V|GRM7_ENST00000486284.1_Missense_Mutation_p.A115V|GRM7_ENST00000389336.4_Missense_Mutation_p.A115V	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	115					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GACACTTACGCGCTCGAACAG	0.607																																							uc003bqm.2		NA																	0				ovary(4)|lung(3)	7						c.(343-345)GCG>GTG		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						63.0	57.0	59.0					3																	6903419		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:6903419C>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.344C>T	3.37:g.6903419C>T	ENSP00000350348:p.Ala115Val					GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.A115V|GRM7_uc003bql.2_Missense_Mutation_p.A115V	p.A115V	NM_000844	NP_000835	Q14831	GRM7_HUMAN			1	618	+			115			Extracellular (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.344C>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	C	30	5.051417	0.93740	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.27	5.27	0.74061	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000002	D	0.86510	0.5950	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.79108	0.987;0.992;0.983	D	0.90107	0.4189	10	0.87932	D	0	.	17.462	0.87622	0.0:1.0:0.0:0.0	.	115;115;115	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	V	115	ENSP00000350348:A115V;ENSP00000417536:A115V;ENSP00000373987:A115V;ENSP00000385664:A115V;ENSP00000384585:A115V	ENSP00000350348:A115V	A	+	2	0	GRM7	6878419	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.648000	0.83479	2.448000	0.82819	0.563000	0.77884	GCG		0.607	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		4	30	0	0	0	0.000248	0	4	30				
COLQ	8292	broad.mit.edu	37	3	15512054	15512054	+	Silent	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr3:15512054G>T	ENST00000383788.5	-	11	831	c.706C>A	c.(706-708)Cga>Aga	p.R236R	COLQ_ENST00000383786.5_Silent_p.R202R|COLQ_ENST00000435459.2_Silent_p.R226R|COLQ_ENST00000383787.2_Silent_p.R227R|COLQ_ENST00000383781.4_Silent_p.R226R|COLQ_ENST00000383785.2_Silent_p.R236R|COLQ_ENST00000603808.1_Silent_p.R236R	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	236	Collagen-like 1.|Heparan sulfate proteoglycan binding. {ECO:0000255}.				acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TGCTTGCCTCGTTTTCCTGGT	0.552																																							uc003bzx.2		NA																	0					0	GRCh37	CM030023	COLQ	M		c.(706-708)CGA>AGA		acetylcholinesterase collagen-like tail subunit							392.0	275.0	315.0					3																	15512054		2203	4300	6503	SO:0001819	synonymous_variant	8292				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft		g.chr3:15512054G>T	AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"""single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase"", ""collagenic tail of endplate acetylcholinesterase"", ""AChE Q subunit"", ""acetylcholinesterase-associated collagen"""	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.706C>A	3.37:g.15512054G>T						COLQ_uc003bzv.2_Silent_p.R226R|COLQ_uc003bzz.2_Silent_p.R227R|COLQ_uc010heo.2_Silent_p.R202R|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_Silent_p.R95R|COLQ_uc003cad.1_RNA	p.R236R	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN			11	832	-			236			Heparan sulfate proteoglycan binding (Potential).|Collagen-like 1.		B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Silent	SNP	ENST00000383788.5	37	c.706C>A	CCDS33709.1																																																																																				0.552	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343575.1	NM_005677		35	120	1	0	1.36161e-19	0.004289	2.56633e-19	35	120				
NEK10	152110	broad.mit.edu	37	3	27332782	27332782	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr3:27332782C>A	ENST00000429845.2	-	19	1938	c.1576G>T	c.(1576-1578)Gga>Tga	p.G526*	NEK10_ENST00000341435.5_Nonsense_Mutation_p.G526*|NEK10_ENST00000357467.2_5'UTR			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	526	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCTCCACTTCCAAGATGATCC	0.403																																							uc003cdt.1		NA																	0				ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						c.(1576-1578)GGA>TGA		NIMA-related kinase 10 isoform 3							134.0	124.0	127.0					3																	27332782		1568	3582	5150	SO:0001587	stop_gained	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27332782C>A	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1576G>T	3.37:g.27332782C>A	ENSP00000395849:p.Gly526*					NEK10_uc003cds.1_5'UTR	p.G526*	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN			19	1850	-			526			ATP (By similarity).|Protein kinase.		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Nonsense_Mutation	SNP	ENST00000429845.2	37	c.1576G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.576553|10.576553	0.99431|0.99431	.|.	.|.	ENSG00000163491|ENSG00000163491	ENST00000341435;ENST00000396636|ENST00000424275	.|T	.|0.61040	.|0.14	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.119866|.	0.53938|.	D|.	0.000052|.	.|T	.|0.75087	.|0.3802	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.75690	.|-0.3230	.|6	0.87932|0.54805	D|T	0|0.06	.|.	19.7321|19.7321	0.96186|0.96186	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|F	526|58	.|ENSP00000392344:L58F	ENSP00000343847:G526X|ENSP00000392344:L58F	G|L	-|-	1|3	0|2	NEK10|NEK10	27307786|27307786	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.984000|0.984000	0.73092|0.73092	5.262000|5.262000	0.65501|0.65501	2.652000|2.652000	0.90054|0.90054	0.650000|0.650000	0.86243|0.86243	GGA|TTG		0.403	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		17	20	1	0	2.94398e-08	0.007413	4.40635e-08	17	20				
EOMES	8320	broad.mit.edu	37	3	27758588	27758588	+	Silent	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr3:27758588C>A	ENST00000295743.4	-	6	2237	c.2034G>T	c.(2032-2034)ggG>ggT	p.G678G	EOMES_ENST00000461503.1_5'Flank|EOMES_ENST00000537516.1_Silent_p.G402G|EOMES_ENST00000449599.1_Silent_p.G697G			O95936	EOMES_HUMAN	eomesodermin	678	Required for transcription activation. {ECO:0000250}.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AAGCATAATACCCTCCCATGC	0.368																																							uc003cdx.2		NA																	0				ovary(3)|breast(1)	4						c.(2032-2034)GGG>GGT		eomesodermin							120.0	115.0	117.0					3																	27758588		2203	4300	6503	SO:0001819	synonymous_variant	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27758588C>A	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.2034G>T	3.37:g.27758588C>A						EOMES_uc003cdy.3_Silent_p.G697G|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Silent_p.G402G	p.G678G	NM_005442	NP_005433	O95936	EOMES_HUMAN			6	2034	-			678			Required for transcription activation (By similarity).		B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Silent	SNP	ENST00000295743.4	37	c.2034G>T	CCDS2646.1																																																																																				0.368	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		7	54	1	0	0.00198382	0.001984	0.0024229	7	54				
GOLGA4	2803	broad.mit.edu	37	3	37360619	37360619	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr3:37360619G>C	ENST00000361924.2	+	12	1853	c.1479G>C	c.(1477-1479)gaG>gaC	p.E493D	GOLGA4_ENST00000356847.4_Missense_Mutation_p.E515D|GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	493	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCAGAAAAGAGCAGGAACTGA	0.383																																							uc003cgv.2		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(1477-1479)GAG>GAC		golgi autoantigen, golgin subfamily a, 4							84.0	92.0	89.0					3																	37360619		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37360619G>C	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.1479G>C	3.37:g.37360619G>C	ENSP00000354486:p.Glu493Asp					GOLGA4_uc010hgr.1_Intron|GOLGA4_uc003cgw.2_Missense_Mutation_p.E515D|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.E374D	p.E493D	NM_002078	NP_002069	Q13439	GOGA4_HUMAN			12	1783	+			493			Potential.|Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.1479G>C	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.794143	0.50102	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.27557	1.67;1.66;1.68	6.02	3.27	0.37495	.	0.000000	0.36932	N	0.002339	T	0.20659	0.0497	L	0.39147	1.195	0.32314	N	0.563372	B;B;B	0.18863	0.031;0.031;0.004	B;B;B	0.23018	0.043;0.043;0.01	T	0.16988	-1.0384	10	0.25751	T	0.34	.	3.9877	0.09524	0.2719:0.0:0.4474:0.2807	.	493;515;493	Q13439-4;F8W8Q7;Q13439	.;.;GOGA4_HUMAN	D	493;515;364	ENSP00000354486:E493D;ENSP00000349305:E515D;ENSP00000405842:E364D	ENSP00000349305:E515D	E	+	3	2	GOLGA4	37335623	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	0.356000	0.20181	0.432000	0.26286	0.655000	0.94253	GAG		0.383	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		13	29	0	0	0	0.001368	0	13	29				
SCN10A	6336	broad.mit.edu	37	3	38797307	38797307	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr3:38797307C>T	ENST00000449082.2	-	10	1432	c.1433G>A	c.(1432-1434)cGc>cAc	p.R478H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	478					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGGATCAGAGCGGGGTGATTT	0.488																																							uc003ciq.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(1432-1434)CGC>CAC		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						276.0	231.0	246.0					3																	38797307		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38797307C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1433G>A	3.37:g.38797307C>T	ENSP00000390600:p.Arg478His						p.R478H	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	10	1433	-			478					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.1433G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	3.906	-0.021145	0.07634	.	.	ENSG00000185313	ENST00000449082	D	0.95821	-3.82	5.34	-0.209	0.13180	.	.	.	.	.	D	0.88687	0.6504	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.78094	-0.2338	9	0.54805	T	0.06	.	1.8994	0.03264	0.1318:0.1499:0.1374:0.581	.	478	Q9Y5Y9	SCNAA_HUMAN	H	478	ENSP00000390600:R478H	ENSP00000390600:R478H	R	-	2	0	SCN10A	38772311	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.031000	0.12287	-0.056000	0.13221	-1.099000	0.02127	CGC		0.488	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		11	172	0	0	0	0.001368	0	11	172				
CYP8B1	1582	broad.mit.edu	37	3	42917134	42917135	+	Missense_Mutation	DNP	GC	GC	TT	rs149860457		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr3:42917134_42917135GC>TT	ENST00000316161.4	-	1	498_499	c.174_175GC>AA	c.(172-177)aaGCgc>aaAAgc	p.R59S	RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Missense_Mutation_p.R59S|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	59					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GTCCTCATGCGCTTCAGAAATT	0.569																																							uc003cmh.2		NA																	0				ovary(2)	2						c.(172-177)AAGCGC>AAAAGC		cytochrome P450, family 8, subfamily B,																																				SO:0001583	missense	1582				bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	g.chr3:42917134_42917135GC>TT	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.174_175delinsTT	3.37:g.42917134_42917135delinsTT	ENSP00000318867:p.Arg59Ser					CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Missense_Mutation_p.R59S	p.R59S	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	1	499_500	-			59					B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	DNP	ENST00000316161.4	37	c.174_175GC>AA	CCDS2707.1																																																																																				0.569	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		17	27	0	0	0	0.004672	0	17	27				
HTR1F	3355	broad.mit.edu	37	3	88040472	88040472	+	Silent	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr3:88040472C>T	ENST00000319595.4	+	1	627	c.573C>T	c.(571-573)taC>taT	p.Y191Y		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	191					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GAGCTTTCTACATCCCACTGG	0.413																																							uc003dqr.2		NA																	0				ovary(3)	3						c.(571-573)TAC>TAT		5-hydroxytryptamine (serotonin) receptor 1F	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)						77.0	82.0	80.0					3																	88040472		2203	4300	6503	SO:0001819	synonymous_variant	3355				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	g.chr3:88040472C>T	L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.573C>T	3.37:g.88040472C>T							p.Y191Y	NM_000866	NP_000857	P30939	5HT1F_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	2	731	+	all_cancers(8;0.147)	Lung NSC(201;0.0283)	191			Helical; Name=5; (By similarity).			Silent	SNP	ENST00000319595.4	37	c.573C>T	CCDS2920.1																																																																																				0.413	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		13	24	0	0	0	0.001368	0	13	24				
EPHA6	285220	broad.mit.edu	37	3	97167415	97167415	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr3:97167415C>A	ENST00000442602.2	+	0	16				EPHA6_ENST00000514100.1_De_novo_Start_InFrame|EPHA6_ENST00000502694.1_De_novo_Start_InFrame|EPHA6_ENST00000389672.5_Missense_Mutation_p.H579N			Q9UF33	EPHA6_HUMAN	EPH receptor A6							integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCCCCAGGAACATGAGCAGCT	0.423																																							uc010how.1		NA																	0				stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(1735-1737)CAT>AAT		EPH receptor A6 isoform a							112.0	107.0	109.0					3																	97167415		1894	4122	6016			285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97167415C>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000442602.2:c.-168C>A	3.37:g.97167415C>A						EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_5'UTR|EPHA6_uc003drs.3_5'UTR|EPHA6_uc003drr.3_5'UTR|EPHA6_uc003drt.2_5'UTR|EPHA6_uc010hox.1_RNA	p.H579N	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			7	1778	+			484			Fibronectin type-III 2.|Extracellular (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000442602.2	37	c.1735C>A		.	.	.	.	.	.	.	.	.	.	C	17.10	3.303703	0.60305	.	.	ENSG00000080224	ENST00000389672	T	0.51574	0.7	5.46	5.46	0.80206	.	.	.	.	.	T	0.59918	0.2229	L	0.49126	1.545	0.80722	D	1	.	.	.	.	.	.	T	0.57808	-0.7747	7	0.48119	T	0.1	.	19.2991	0.94136	0.0:1.0:0.0:0.0	.	.	.	.	N	579	ENSP00000374323:H579N	ENSP00000374323:H579N	H	+	1	0	EPHA6	98650105	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.554000	0.86153	0.655000	0.94253	CAT		0.423	EPHA6-201	KNOWN	basic	protein_coding	protein_coding		NM_001080448		15	57	1	0	0.00244969	0.00245	0.00297602	15	57				
OR5H6	79295	broad.mit.edu	37	3	97984019	97984019	+	Silent	SNP	A	A	T	rs201216141	byFrequency	TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr3:97984019A>T	ENST00000383696.2	+	1	932	c.891A>T	c.(889-891)atA>atT	p.I297I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACACTGTCATAGTTCCTTTAT	0.378																																							uc003dsi.1		NA																	0				skin(2)|large_intestine(1)	3						c.(889-891)ATA>ATT		olfactory receptor, family 5, subfamily H,							63.0	62.0	62.0					3																	97984019		2203	4295	6498	SO:0001819	synonymous_variant	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97984019A>T	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.891A>T	3.37:g.97984019A>T							p.I297I	NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN			1	891	+			297			Helical; Name=7; (Potential).		Q6IF88	Silent	SNP	ENST00000383696.2	37	c.891A>T	CCDS33800.1																																																																																				0.378	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			21	30	0	0	0	0.004656	0	21	30				
COL6A6	131873	broad.mit.edu	37	3	130290003	130290003	+	Missense_Mutation	SNP	C	C	A	rs373357114		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr3:130290003C>A	ENST00000358511.6	+	6	2774	c.2743C>A	c.(2743-2745)Ctc>Atc	p.L915I	COL6A6_ENST00000453409.2_Missense_Mutation_p.L915I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	915	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCCCCAAGTCCTCATTGTGAT	0.562																																							uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(2743-2745)CTC>ATC		collagen type VI alpha 6 precursor							51.0	52.0	51.0					3																	130290003		1903	4117	6020	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130290003C>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2743C>A	3.37:g.130290003C>A	ENSP00000351310:p.Leu915Ile						p.L915I	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			6	2774	+			915			VWFA 5.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2743C>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842917	0.71488	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.77620	-1.11;-1.11	4.92	4.03	0.46877	von Willebrand factor, type A (3);	0.000000	0.47852	D	0.000206	D	0.82356	0.5019	M	0.64567	1.98	0.36172	D	0.848839	D	0.63046	0.992	D	0.63192	0.912	D	0.84918	0.0852	10	0.51188	T	0.08	.	8.524	0.33293	0.0:0.7612:0.1555:0.0833	.	915	A6NMZ7	CO6A6_HUMAN	I	915	ENSP00000351310:L915I;ENSP00000399236:L915I	ENSP00000351310:L915I	L	+	1	0	COL6A6	131772693	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	2.843000	0.48238	2.460000	0.83146	0.561000	0.74099	CTC		0.562	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		17	15	1	0	0.00400662	0.004007	0.00482904	17	15				
TM4SF18	116441	broad.mit.edu	37	3	149040216	149040216	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr3:149040216T>A	ENST00000296059.2	-	5	683	c.418A>T	c.(418-420)Aca>Tca	p.T140S	RP11-206M11.7_ENST00000489011.1_RNA|TM4SF18_ENST00000470080.1_Missense_Mutation_p.T140S	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	140						integral component of membrane (GO:0016021)				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CTAGAATCTGTAAGGAAACTG	0.398																																							uc003exa.2		NA																	0				ovary(1)	1						c.(418-420)ACA>TCA		transmembrane 4 L six family member 18							83.0	78.0	80.0					3																	149040216		2203	4300	6503	SO:0001583	missense	116441					integral to membrane		g.chr3:149040216T>A	BC014339	CCDS3142.1	3q25.1	2005-08-09			ENSG00000163762	ENSG00000163762			25181	protein-coding gene	gene with protein product						10975581	Standard	NM_001184723		Approved	L6D	uc021xfl.1	Q96CE8	OTTHUMG00000159582	ENST00000296059.2:c.418A>T	3.37:g.149040216T>A	ENSP00000296059:p.Thr140Ser						p.T140S	NM_138786	NP_620141	Q96CE8	T4S18_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		5	555	-			140			Extracellular (Potential).		B2R8K0|D3DNH5	Missense_Mutation	SNP	ENST00000296059.2	37	c.418A>T	CCDS3142.1	.	.	.	.	.	.	.	.	.	.	T	6.159	0.397555	0.11638	.	.	ENSG00000163762	ENST00000296059;ENST00000470080;ENST00000474754	T;T;T	0.28069	1.63;1.63;1.63	5.51	4.35	0.52113	.	0.481428	0.23046	N	0.052558	T	0.14874	0.0359	N	0.05031	-0.125	0.20764	N	0.99985	B	0.12630	0.006	B	0.20384	0.029	T	0.24154	-1.0168	10	0.21540	T	0.41	-23.9617	9.7701	0.40585	0.0:0.0792:0.0:0.9208	.	140	Q96CE8	T4S18_HUMAN	S	140	ENSP00000296059:T140S;ENSP00000419278:T140S;ENSP00000418372:T140S	ENSP00000296059:T140S	T	-	1	0	TM4SF18	150522906	0.974000	0.33945	0.998000	0.56505	0.867000	0.49689	1.531000	0.36018	0.929000	0.37192	-0.263000	0.10527	ACA		0.398	TM4SF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356326.1	NM_138786		7	22	0	0	0	0.006214	0	7	22				
CCDC39	339829	broad.mit.edu	37	3	180334315	180334315	+	Missense_Mutation	SNP	A	A	G	rs567606077		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr3:180334315A>G	ENST00000442201.2	-	18	2694	c.2575T>C	c.(2575-2577)Tac>Cac	p.Y859H	CCDC39_ENST00000273654.4_3'UTR|TTC14_ENST00000382584.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	859					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TGTTGAAAGTATGTTTGAAGG	0.279													A|||	1	0.000199681	0.0	0.0	5008	,	,		17690	0.0		0.0	False		,,,				2504	0.001						uc010hxe.2		NA																	0				ovary(4)	4						c.(2575-2577)TAC>CAC		coiled-coil domain containing 39							49.0	45.0	46.0					3																	180334315		1806	4066	5872	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180334315A>G	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2575T>C	3.37:g.180334315A>G	ENSP00000405708:p.Tyr859His					CCDC39_uc003fkn.2_RNA|TTC14_uc003fkm.2_Intron	p.Y859H	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		18	2690	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		859					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.2575T>C	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.461363	0.43736	.	.	ENSG00000145075	ENST00000489868;ENST00000442201	.	.	.	5.37	4.21	0.49690	.	.	.	.	.	T	0.52757	0.1754	L	0.45581	1.43	0.80722	D	1	B	0.21147	0.052	B	0.20184	0.028	T	0.45131	-0.9282	8	0.25751	T	0.34	.	10.9847	0.47516	0.9275:0.0:0.0725:0.0	.	859	Q9UFE4	CCD39_HUMAN	H	31;859	.	ENSP00000405708:Y859H	Y	-	1	0	CCDC39	181817009	1.000000	0.71417	0.974000	0.42286	0.974000	0.67602	2.078000	0.41567	1.056000	0.40484	0.455000	0.32223	TAC		0.279	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		3	9	0	0	0	0.004672	0	3	9				
SST	6750	broad.mit.edu	37	3	187387016	187387016	+	Missense_Mutation	SNP	G	G	A	rs149673471	byFrequency	TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr3:187387016G>A	ENST00000287641.3	-	2	295	c.188C>T	c.(187-189)aCg>aTg	p.T63M		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	63					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	ATCATTCTCCGTCTGGTTGGG	0.517													G|||	3	0.000599042	0.0023	0.0	5008	,	,		15728	0.0		0.0	False		,,,				2504	0.0						uc003frn.2		NA																	0				pancreas(1)	1						c.(187-189)ACG>ATG		somatostatin preproprotein	Bromocriptine(DB01200)|Cysteamine(DB00847)	G	MET/THR	7,4399	12.9+/-30.5	0,7,2196	238.0	219.0	225.0		188	5.5	1.0	3	dbSNP_134	225	0,8600		0,0,4300	yes	missense	SST	NM_001048.3	81	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	possibly-damaging	63/117	187387016	7,12999	2203	4300	6503	SO:0001583	missense	6750				digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	g.chr3:187387016G>A		CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"""Endogenous ligands"""	11329	protein-coding gene	gene with protein product	"""somatostatin-14"", ""somatostatin-28"", ""prepro-somatostatin"""	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.188C>T	3.37:g.187387016G>A	ENSP00000287641:p.Thr63Met						p.T63M	NM_001048	NP_001039	P61278	SMS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	2	310	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		63					B2R5G3|P01166	Missense_Mutation	SNP	ENST00000287641.3	37	c.188C>T	CCDS3288.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	15.53	2.860530	0.51482	0.001589	0.0	ENSG00000157005	ENST00000287641	T	0.32988	1.43	5.51	5.51	0.81932	.	0.150676	0.64402	D	0.000011	T	0.31734	0.0806	L	0.60455	1.87	0.47009	D	0.999287	P	0.46220	0.874	B	0.35971	0.215	T	0.26950	-1.0088	10	0.62326	D	0.03	-18.0111	18.402	0.90519	0.0:0.0:1.0:0.0	.	63	P61278	SMS_HUMAN	M	63	ENSP00000287641:T63M	ENSP00000287641:T63M	T	-	2	0	SST	188869710	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	6.177000	0.71961	2.587000	0.87381	0.305000	0.20034	ACG		0.517	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	NM_001048		30	200	0	0	0	0.002445	0	30	200				
ACAP2	23527	broad.mit.edu	37	3	195022774	195022774	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr3:195022774C>A	ENST00000326793.6	-	14	1476	c.1246G>T	c.(1246-1248)Gac>Tac	p.D416Y		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	416	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						AGGCCACAGTCACAACAGCTG	0.542																																							uc003fun.3		NA																	0				large_intestine(1)|ovary(1)	2						c.(1246-1248)GAC>TAC		centaurin, beta 2							157.0	164.0	162.0					3																	195022774		2203	4300	6503	SO:0001583	missense	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195022774C>A		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1246G>T	3.37:g.195022774C>A	ENSP00000324287:p.Asp416Tyr						p.D416Y	NM_012287	NP_036419	Q15057	ACAP2_HUMAN			14	1487	-			416			Arf-GAP.|C4-type.		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	c.1246G>T	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	C	32	5.160729	0.94727	.	.	ENSG00000114331	ENST00000326793	T	0.63255	-0.03	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.88284	0.6395	H	0.98682	4.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92059	0.5655	10	0.87932	D	0	.	19.4402	0.94817	0.0:1.0:0.0:0.0	.	416	Q15057	ACAP2_HUMAN	Y	416	ENSP00000324287:D416Y	ENSP00000324287:D416Y	D	-	1	0	ACAP2	196504063	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.838000	0.97847	0.591000	0.81541	GAC		0.542	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		36	91	1	0	2.51541e-25	0.004878	4.96577e-25	36	91				
NRROS	375387	broad.mit.edu	37	3	196387130	196387130	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr3:196387130G>C	ENST00000328557.4	+	3	819	c.616G>C	c.(616-618)Gag>Cag	p.E206Q		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	206					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CGGCCTGGCTGAGCTGAGGCA	0.632																																							uc003fwv.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(616-618)GAG>CAG		leucine rich repeat containing 33 precursor							53.0	50.0	51.0					3																	196387130		2203	4300	6503	SO:0001583	missense	375387					integral to membrane		g.chr3:196387130G>C	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.616G>C	3.37:g.196387130G>C	ENSP00000328625:p.Glu206Gln						p.E206Q	NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	3	720	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		206			Extracellular (Potential).|LRR 7.			Missense_Mutation	SNP	ENST00000328557.4	37	c.616G>C	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	G	0.746	-0.774571	0.02951	.	.	ENSG00000174004	ENST00000328557	T	0.56611	0.45	6.17	2.0	0.26442	.	1.101410	0.06700	N	0.771302	T	0.24699	0.0599	N	0.03115	-0.41	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.26189	-1.0110	10	0.12103	T	0.63	.	3.1592	0.06515	0.268:0.1089:0.4993:0.1238	.	206	Q86YC3	LRC33_HUMAN	Q	206	ENSP00000328625:E206Q	ENSP00000328625:E206Q	E	+	1	0	LRRC33	197871527	0.001000	0.12720	0.041000	0.18516	0.358000	0.29455	0.629000	0.24538	0.487000	0.27698	0.655000	0.94253	GAG		0.632	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		14	26	0	0	0	0.003163	0	14	26				
ZNF721	170960	broad.mit.edu	37	4	436078	436078	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr4:436078T>A	ENST00000338977.5	-	2	2190	c.2142A>T	c.(2140-2142)aaA>aaT	p.K714N	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.K726N			Q8TF20	ZN721_HUMAN	zinc finger protein 721	714					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						GATCTTCACATTTGTAGGGTT	0.393																																							uc003gag.2		NA																	0				ovary(1)	1						c.(2176-2178)AAA>AAT		zinc finger protein 721							42.0	45.0	44.0					4																	436078		2053	4206	6259	SO:0001583	missense	170960					intracellular	nucleic acid binding|zinc ion binding	g.chr4:436078T>A	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2142A>T	4.37:g.436078T>A	ENSP00000340524:p.Lys714Asn					ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.K758N|ZNF721_uc010ibe.2_Missense_Mutation_p.K714N	p.K726N	NM_133474	NP_597731	D9N162	D9N162_HUMAN			3	2869	-			726					Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.2178A>T		.	.	.	.	.	.	.	.	.	.	T	7.675	0.687842	0.14973	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.20200	2.09;2.09	0.71	0.71	0.18157	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17662	0.0424	L	0.58969	1.84	0.09310	N	1	B;B;B	0.17268	0.012;0.012;0.021	B;B;B	0.06405	0.001;0.001;0.002	T	0.29731	-1.0002	9	0.54805	T	0.06	.	2.8111	0.05442	0.4169:0.0:0.0:0.583	.	714;726;726	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	N	714;726	ENSP00000340524:K714N;ENSP00000428878:K726N	ENSP00000340524:K714N	K	-	3	2	ZNF721	426078	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-3.083000	0.00612	0.566000	0.29273	0.163000	0.16589	AAA		0.393	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		8	21	0	0	0	0.004482	0	8	21				
ZFYVE28	57732	broad.mit.edu	37	4	2307147	2307147	+	Missense_Mutation	SNP	G	G	A	rs530190181		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr4:2307147G>A	ENST00000290974.2	-	8	1259	c.920C>T	c.(919-921)gCg>gTg	p.A307V	ZFYVE28_ENST00000515312.1_Missense_Mutation_p.A237V|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.A277V	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	307					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GAGGGCAGGCGCCAGGGCAGC	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		18697	0.0		0.0	False		,,,				2504	0.001						uc003gex.1		NA																	0				skin(2)|ovary(1)	3						c.(919-921)GCG>GTG		zinc finger, FYVE domain containing 28							40.0	42.0	41.0					4																	2307147		2203	4299	6502	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2307147G>A	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.920C>T	4.37:g.2307147G>A	ENSP00000290974:p.Ala307Val					ZFYVE28_uc011bvk.1_Missense_Mutation_p.A237V|ZFYVE28_uc011bvl.1_Missense_Mutation_p.A277V|ZFYVE28_uc003gew.1_Missense_Mutation_p.A193V	p.A307V	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN			8	1239	-			307					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.920C>T	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	G	7.838	0.721266	0.15372	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.60299	0.2;0.22;0.2	5.21	2.56	0.30785	.	0.502354	0.22529	N	0.058863	T	0.45875	0.1364	L	0.60455	1.87	0.19575	N	0.999968	B;P	0.45986	0.389;0.87	B;B	0.36335	0.023;0.222	T	0.36841	-0.9731	10	0.44086	T	0.13	.	7.4421	0.27190	0.145:0.0:0.72:0.135	.	277;307	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	V	307;277;237	ENSP00000290974:A307V;ENSP00000425706:A277V;ENSP00000426299:A237V	ENSP00000290974:A307V	A	-	2	0	ZFYVE28	2276945	0.017000	0.18338	0.066000	0.19879	0.001000	0.01503	1.663000	0.37429	0.231000	0.21079	-0.201000	0.12746	GCG		0.657	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		13	33	0	0	0	0.00245	0	13	33				
SLIT2	9353	broad.mit.edu	37	4	20490581	20490581	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr4:20490581C>G	ENST00000504154.1	+	8	1003	c.751C>G	c.(751-753)Caa>Gaa	p.Q251E	SLIT2_ENST00000273739.5_Missense_Mutation_p.Q251E|SLIT2_ENST00000503837.1_Missense_Mutation_p.Q251E|SLIT2_ENST00000503823.1_Missense_Mutation_p.Q251E	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	251	LRRCT 1.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGCCGAGGTTCAAAAACGAGA	0.507																																							uc003gpr.1		NA																	0				central_nervous_system(4)|skin(4)|ovary(3)	11						c.(751-753)CAA>GAA		slit homolog 2 precursor							159.0	152.0	154.0					4																	20490581		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20490581C>G	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.751C>G	4.37:g.20490581C>G	ENSP00000422591:p.Gln251Glu					SLIT2_uc003gps.1_Missense_Mutation_p.Q251E	p.Q251E	NM_004787	NP_004778	O94813	SLIT2_HUMAN			8	955	+			251			LRRCT 1.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.751C>G	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210272	0.58343	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.79940	-1.3;-1.32;-1.24;-1.29	5.59	5.59	0.84812	Cysteine-rich flanking region, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.87083	0.6089	M	0.82630	2.6	0.80722	D	1	D;P	0.54964	0.969;0.802	P;P	0.50537	0.591;0.643	D	0.87441	0.2395	10	0.45353	T	0.12	.	19.5975	0.95547	0.0:1.0:0.0:0.0	.	251;251	O94813-3;O94813	.;SLIT2_HUMAN	E	251	ENSP00000427548:Q251E;ENSP00000422591:Q251E;ENSP00000273739:Q251E;ENSP00000422261:Q251E	ENSP00000273739:Q251E	Q	+	1	0	SLIT2	20099679	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	7.776000	0.85560	2.634000	0.89283	0.455000	0.32223	CAA		0.507	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			18	92	0	0	0	0.006122	0	18	92				
SLIT2	9353	broad.mit.edu	37	4	20591325	20591325	+	Silent	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr4:20591325C>T	ENST00000504154.1	+	30	3399	c.3147C>T	c.(3145-3147)caC>caT	p.H1049H	SLIT2_ENST00000273739.5_Silent_p.H1062H|SLIT2_ENST00000503837.1_Silent_p.H1045H|SLIT2_ENST00000503823.1_Silent_p.H1041H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1049	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCTGCCAGCACGATTCAAAGT	0.483																																							uc003gpr.1		NA																	0				central_nervous_system(4)|skin(4)|ovary(3)	11						c.(3145-3147)CAC>CAT		slit homolog 2 precursor							119.0	96.0	104.0					4																	20591325		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20591325C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3147C>T	4.37:g.20591325C>T						SLIT2_uc003gps.1_Silent_p.H1041H	p.H1049H	NM_004787	NP_004778	O94813	SLIT2_HUMAN			30	3351	+			1049			EGF-like 4.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.3147C>T	CCDS3426.1																																																																																				0.483	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			7	37	0	0	0	0.001984	0	7	37				
SLC34A2	10568	broad.mit.edu	37	4	25669599	25669599	+	Silent	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr4:25669599G>A	ENST00000382051.3	+	6	671	c.621G>A	c.(619-621)cgG>cgA	p.R207R	SLC34A2_ENST00000504570.1_Silent_p.R206R|SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000503434.1_Silent_p.R206R	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	207					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGGGAGATCGGAGTGAGTTCA	0.498			T	ROS1	NSCLC																																		uc003grr.2		NA		Dom	yes		4	4p15.2	10568		"""solute carrier family 34 (sodium phosphate), member 2"""			E					0				skin(3)|ovary(1)|kidney(1)	5						c.(619-621)CGG>CGA		solute carrier family 34 (sodium phosphate),							115.0	102.0	106.0					4																	25669599		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25669599G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.621G>A	4.37:g.25669599G>A						SLC34A2_uc003grs.2_Silent_p.R206R|SLC34A2_uc010iev.2_Silent_p.R206R	p.R207R	NM_006424	NP_006415	O95436	NPT2B_HUMAN			6	702	+		Breast(46;0.0503)	207			Cytoplasmic (Potential).		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.621G>A	CCDS3435.1																																																																																				0.498	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		34	11	0	0	0	0.005524	0	34	11				
WDR19	57728	broad.mit.edu	37	4	39271619	39271619	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr4:39271619G>A	ENST00000399820.3	+	31	3536	c.3382G>A	c.(3382-3384)Gtt>Att	p.V1128I	WDR19_ENST00000288634.7_Missense_Mutation_p.V968I	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1128					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TGCACACGATGTTCTCTTCAG	0.433																																							uc003gtv.2		NA																	0				large_intestine(1)	1						c.(3382-3384)GTT>ATT		WD repeat domain 19							148.0	136.0	140.0					4																	39271619		1937	4147	6084	SO:0001583	missense	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39271619G>A	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.3382G>A	4.37:g.39271619G>A	ENSP00000382717:p.Val1128Ile					WDR19_uc011byi.1_Missense_Mutation_p.V968I|WDR19_uc003gtw.1_Missense_Mutation_p.V725I	p.V1128I	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN			31	3536	+			1128					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	c.3382G>A	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.267580	0.59540	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	T;T	0.64991	-0.12;-0.13	5.48	4.63	0.57726	.	0.053339	0.85682	D	0.000000	T	0.54046	0.1834	L	0.39566	1.225	0.52099	D	0.99994	B	0.14805	0.011	B	0.18871	0.023	T	0.47484	-0.9114	10	0.23302	T	0.38	-18.2328	16.2596	0.82533	0.0:0.1329:0.8671:0.0	.	1128	Q8NEZ3	WDR19_HUMAN	I	1128;968	ENSP00000382717:V1128I;ENSP00000288634:V968I	ENSP00000288634:V968I	V	+	1	0	WDR19	38948014	1.000000	0.71417	0.974000	0.42286	0.941000	0.58515	5.545000	0.67237	1.279000	0.44446	0.563000	0.77884	GTT		0.433	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			6	36	0	0	0	0.001168	0	6	36				
SLC4A4	8671	broad.mit.edu	37	4	72400105	72400105	+	Splice_Site	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr4:72400105G>T	ENST00000264485.5	+	18	2559	c.2442G>T	c.(2440-2442)aaG>aaT	p.K814N	SLC4A4_ENST00000351898.6_Splice_Site_p.K814N|SLC4A4_ENST00000340595.3_Splice_Site_p.K770N|SLC4A4_ENST00000425175.1_Splice_Site_p.K814N	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	814					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	ATAAACTCAAGGTAAGTGTCC	0.378																																							uc003hfy.2		NA																	0				ovary(3)|kidney(1)|skin(1)	5						c.(2440-2442)AAG>AAT		solute carrier family 4, sodium bicarbonate							89.0	90.0	90.0					4																	72400105		2203	4300	6503	SO:0001630	splice_region_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72400105G>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2442+1G>T	4.37:g.72400105G>T						SLC4A4_uc010iic.2_Missense_Mutation_p.K814N|SLC4A4_uc010iib.2_Missense_Mutation_p.K814N|SLC4A4_uc003hfz.2_Missense_Mutation_p.K814N|SLC4A4_uc003hgc.3_Missense_Mutation_p.K770N|SLC4A4_uc010iid.2_Missense_Mutation_p.K18N	p.K814N	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		18	2559	+			814	KK->NN: Moderate reduction of the sodium- dependent ion transport activity.		Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.2442G>T	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279268	0.59758	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	5.54	2.88	0.33553	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90024	0.6885	M	0.90650	3.135	0.80722	D	1	D;D;D;D	0.71674	0.996;0.997;0.989;0.998	D;D;P;D	0.73708	0.969;0.979;0.885;0.981	D	0.89701	0.3905	10	0.72032	D	0.01	.	11.3753	0.49724	0.1939:0.0:0.8061:0.0	.	814;814;770;814	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	N	814;814;814;770	ENSP00000264485:K814N;ENSP00000393557:K814N;ENSP00000307349:K814N;ENSP00000344272:K770N	ENSP00000264485:K814N	K	+	3	2	SLC4A4	72618969	1.000000	0.71417	0.991000	0.47740	0.479000	0.33129	5.099000	0.64554	0.296000	0.22592	-0.157000	0.13467	AAG		0.378	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	Missense_Mutation	10	25	1	0	0.00829132	0.008291	0.00988912	10	25				
PF4	5196	broad.mit.edu	37	4	74847209	74847209	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr4:74847209G>T	ENST00000296029.3	-	2	313	c.143C>A	c.(142-144)tCc>tAc	p.S48Y		NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	platelet factor 4	48					blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|leukocyte chemotaxis (GO:0030595)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of MHC class II biosynthetic process (GO:0045347)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)	p.S48F(1)		kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	ACGGACCTGGGAGGTGGTCTT	0.602																																							uc003hhi.2		NA																	1	Substitution - Missense(1)		kidney(1)		0						c.(142-144)TCC>TAC		platelet factor 4 (chemokine (C-X-C motif)	Drotrecogin alfa(DB00055)						68.0	62.0	64.0					4																	74847209		2203	4296	6499	SO:0001583	missense	5196				cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding	g.chr4:74847209G>T	M25897	CCDS3562.1	4q12-q21	2012-10-02	2008-08-29		ENSG00000163737	ENSG00000163737			8861	protein-coding gene	gene with protein product	"""chemokine (C-X-C motif) ligand 4"""	173460	"""platelet factor 4"""			3622011	Standard	NM_002619		Approved	SCYB4, CXCL4	uc003hhi.3	P02776	OTTHUMG00000130009	ENST00000296029.3:c.143C>A	4.37:g.74847209G>T	ENSP00000296029:p.Ser48Tyr						p.S48Y	NM_002619	NP_002610	P02776	PLF4_HUMAN	all cancers(17;0.0034)|Lung(101;0.196)		2	188	-	Breast(15;0.00136)		48					Q53X61|Q9UC64|Q9UC65	Missense_Mutation	SNP	ENST00000296029.3	37	c.143C>A	CCDS3562.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410770	0.62399	.	.	ENSG00000163737	ENST00000296029	T	0.06068	3.35	2.63	1.63	0.23807	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.576564	0.18332	N	0.144449	T	0.24470	0.0593	M	0.89904	3.07	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.01795	-1.1272	10	0.87932	D	0	.	5.9293	0.19130	0.0:0.0:0.69:0.31	.	48	P02776	PLF4_HUMAN	Y	48	ENSP00000296029:S48Y	ENSP00000296029:S48Y	S	-	2	0	PF4	75066073	0.001000	0.12720	0.002000	0.10522	0.978000	0.69477	0.727000	0.25999	1.472000	0.48140	0.305000	0.20034	TCC		0.602	PF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252282.1			10	20	1	0	0.00621372	0.006214	0.00744995	10	20				
SOWAHB	345079	broad.mit.edu	37	4	77816994	77816994	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr4:77816994C>A	ENST00000334306.2	-	1	2008	c.2009G>T	c.(2008-2010)gGa>gTa	p.G670V		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	670																	CGGGGTATATCCACAACTGGA	0.532																																							uc003hki.2		NA																	0					0						c.(2008-2010)GGA>GTA		ankyrin repeat domain 56							181.0	171.0	174.0					4																	77816994		2203	4300	6503	SO:0001583	missense	345079							g.chr4:77816994C>A		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.2009G>T	4.37:g.77816994C>A	ENSP00000334879:p.Gly670Val						p.G670V	NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN			1	2009	-			670			ANK 2.		B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.2009G>T	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851337	0.71719	.	.	ENSG00000186212	ENST00000334306	T	0.54866	0.55	5.5	4.65	0.58169	Ankyrin repeat-containing domain (4);	0.000000	0.64402	U	0.000007	T	0.78685	0.4322	M	0.92268	3.29	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.85005	0.0902	10	0.87932	D	0	-21.798	15.7089	0.77609	0.1378:0.8622:0.0:0.0	.	670	A6NEL2	ANR56_HUMAN	V	670	ENSP00000334879:G670V	ENSP00000334879:G670V	G	-	2	0	ANKRD56	78036018	1.000000	0.71417	0.975000	0.42487	0.726000	0.41606	7.098000	0.76974	1.521000	0.48983	0.655000	0.94253	GGA		0.532	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		30	172	1	0	9.65021e-13	0.002096	1.63696e-12	30	172				
SLC10A6	345274	broad.mit.edu	37	4	87749282	87749282	+	Missense_Mutation	SNP	C	C	T	rs201421765		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr4:87749282C>T	ENST00000273905.6	-	4	772	c.625G>A	c.(625-627)Gca>Aca	p.A209T	SLC10A6_ENST00000505535.1_Intron	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	209					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CCAGCAACTGCGACCACCAGA	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		18036	0.001		0.0	False		,,,				2504	0.0						uc003hqd.2		NA																	0					0						c.(625-627)GCA>ACA		sodium-dependent organic anion transporter							77.0	76.0	76.0					4																	87749282		2203	4300	6503	SO:0001583	missense	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87749282C>T	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.625G>A	4.37:g.87749282C>T	ENSP00000273905:p.Ala209Thr						p.A209T	NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	4	773	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	209			Helical; (Potential).		Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	37	c.625G>A	CCDS3614.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.27	1.304055	0.23736	.	.	ENSG00000145283	ENST00000273905	T	0.12255	2.7	5.28	-1.61	0.08399	.	0.811865	0.11139	N	0.595511	T	0.10809	0.0264	L	0.33093	0.98	0.09310	N	1	P	0.49253	0.921	B	0.42343	0.384	T	0.26292	-1.0107	10	0.46703	T	0.11	-12.5671	10.5972	0.45345	0.0:0.481:0.0:0.519	.	209	Q3KNW5	SOAT_HUMAN	T	209	ENSP00000273905:A209T	ENSP00000273905:A209T	A	-	1	0	SLC10A6	87968306	0.001000	0.12720	0.003000	0.11579	0.024000	0.10985	-0.095000	0.11077	-0.231000	0.09825	0.655000	0.94253	GCA		0.453	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		7	46	0	0	0	0.006214	0	7	46				
ANK2	287	broad.mit.edu	37	4	114158246	114158246	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr4:114158246T>A	ENST00000357077.4	+	6	640	c.587T>A	c.(586-588)cTg>cAg	p.L196Q	ANK2_ENST00000264366.6_Missense_Mutation_p.L196Q|ANK2_ENST00000394537.3_Missense_Mutation_p.L196Q|ANK2_ENST00000506722.1_Missense_Mutation_p.L175Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	196					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)		CTGCCAGCTCTGCATATTGCC	0.517																																							uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(586-588)CTG>CAG		ankyrin 2 isoform 1							186.0	174.0	179.0					4																	114158246		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114158246T>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.587T>A	4.37:g.114158246T>A	ENSP00000349588:p.Leu196Gln					ANK2_uc003ibd.3_Missense_Mutation_p.L175Q|ANK2_uc003ibf.3_Missense_Mutation_p.L196Q|ANK2_uc003ibc.2_Missense_Mutation_p.L172Q|ANK2_uc011cgb.1_Missense_Mutation_p.L211Q	p.L196Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	6	687	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	196			ANK 6.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.587T>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.948463	0.92593	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000515034	D;T;T;T;D;D;D;T	0.86956	-1.68;-1.04;-1.04;-1.04;-1.68;-2.19;-2.19;0.66	5.57	5.57	0.84162	Ankyrin repeat-containing domain (3);	0.000000	0.40469	N	0.001100	D	0.92123	0.7503	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;0.998	D	0.92904	0.6342	10	0.87932	D	0	.	16.0172	0.80450	0.0:0.0:0.0:1.0	.	196;196;196;175;175	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	Q	175;175;175;211;196;196;196;175;61	ENSP00000423799:L175Q;ENSP00000421011:L175Q;ENSP00000421067:L175Q;ENSP00000424722:L211Q;ENSP00000378044:L196Q;ENSP00000349588:L196Q;ENSP00000264366:L196Q;ENSP00000421059:L61Q	ENSP00000264366:L196Q	L	+	2	0	ANK2	114377695	1.000000	0.71417	0.979000	0.43373	0.861000	0.49209	7.997000	0.88414	2.239000	0.73571	0.528000	0.53228	CTG		0.517	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		80	81	0	0	0	0.00361	0	80	81				
UGT8	7368	broad.mit.edu	37	4	115585282	115585282	+	Silent	SNP	A	A	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr4:115585282A>G	ENST00000310836.6	+	3	1476	c.954A>G	c.(952-954)aaA>aaG	p.K318K	UGT8_ENST00000394511.3_Silent_p.K318K	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	318					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TGCCTCAAAAAGTGATTTGGA	0.418																																							uc003ibs.2		NA																	0				ovary(1)|skin(1)	2						c.(952-954)AAA>AAG		UDP-galactose-ceramide galactosyltransferase 8							108.0	104.0	105.0					4																	115585282		2203	4300	6503	SO:0001819	synonymous_variant	7368				central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	g.chr4:115585282A>G	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.954A>G	4.37:g.115585282A>G						UGT8_uc003ibt.2_Silent_p.K318K|UGT8_uc011cge.1_RNA	p.K318K	NM_001128174	NP_001121646	Q16880	CGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000632)	3	1476	+		Ovarian(17;0.156)	318					B3KXU7|O00196	Silent	SNP	ENST00000310836.6	37	c.954A>G	CCDS3705.1																																																																																				0.418	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360		7	31	0	0	0	0.00308	0	7	31				
PCDH18	54510	broad.mit.edu	37	4	138442189	138442189	+	Missense_Mutation	SNP	C	C	A	rs199993180		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr4:138442189C>A	ENST00000344876.4	-	4	3788	c.3402G>T	c.(3400-3402)caG>caT	p.Q1134H	PCDH18_ENST00000507846.1_Missense_Mutation_p.Q913H|PCDH18_ENST00000412923.2_Missense_Mutation_p.Q1133H|PCDH18_ENST00000510305.1_Missense_Mutation_p.Q345H|PCDH18_ENST00000511115.1_Missense_Mutation_p.Q314H	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1134	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCTCCTAGCTCTGGCGGACAT	0.418																																							uc003ihe.3		NA																	0				pancreas(3)|skin(2)	5						c.(3400-3402)CAG>CAT		protocadherin 18 precursor							52.0	50.0	51.0					4																	138442189		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138442189C>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.3402G>T	4.37:g.138442189C>A	ENSP00000355082:p.Gln1134His					PCDH18_uc003ihf.3_Missense_Mutation_p.Q1126H|PCDH18_uc011cgz.1_Missense_Mutation_p.Q345H|PCDH18_uc003ihg.3_Missense_Mutation_p.Q913H|PCDH18_uc011cha.1_Missense_Mutation_p.Q314H	p.Q1134H	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			4	3789	-	all_hematologic(180;0.24)		1134			Interaction with DAB1 (By similarity).|Cytoplasmic (Potential).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.3402G>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643740	0.29246	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.56611	0.55;0.55;0.45;1.32;1.31	5.09	5.09	0.68999	.	0.000000	0.41294	D	0.000914	T	0.39708	0.1088	L	0.27053	0.805	0.45046	D	0.998062	B;B;B;B	0.22003	0.063;0.011;0.019;0.011	B;B;B;B	0.17433	0.016;0.008;0.018;0.008	T	0.29058	-1.0024	10	0.51188	T	0.08	.	11.9394	0.52892	0.0:0.9206:0.0:0.0794	.	314;913;1133;1134	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	H	1134;1133;913;345;314	ENSP00000355082:Q1134H;ENSP00000390688:Q1133H;ENSP00000425903:Q913H;ENSP00000424269:Q345H;ENSP00000425647:Q314H	ENSP00000355082:Q1134H	Q	-	3	2	PCDH18	138661639	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.965000	0.49200	2.374000	0.81015	0.591000	0.81541	CAG		0.418	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		16	44	1	0	2.32078e-09	0.003163	3.55491e-09	16	44				
GPM6A	2823	broad.mit.edu	37	4	176594958	176594959	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr4:176594958_176594959CC>AG	ENST00000280187.7	-	4	304_305	c.259_260GG>CT	c.(259-261)GGc>CTc	p.G87L	GPM6A_ENST00000515090.1_Missense_Mutation_p.G80L|GPM6A_ENST00000393658.2_Missense_Mutation_p.G87L|GPM6A_ENST00000506894.1_Missense_Mutation_p.G76L	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	87					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		AGCTGCGATGCCGTAGATCACA	0.401																																							uc003iuf.2		NA																	0					0						c.(259-261)GGC>CTC		glycoprotein M6A isoform 2																																				SO:0001583	missense	2823					cell surface|integral to membrane		g.chr4:176594958_176594959CC>AG		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.259_260delinsAG	4.37:g.176594958_176594959delinsAG	ENSP00000280187:p.Gly87Leu					GPM6A_uc011ckj.1_Missense_Mutation_p.G80L|GPM6A_uc003iug.2_Missense_Mutation_p.G87L|GPM6A_uc003iuh.2_Missense_Mutation_p.G76L	p.G87L	NM_201591	NP_963885	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	3	1063_1064	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	87			Helical; (Potential).		B7Z642|E9PHI5|Q92602	Missense_Mutation	DNP	ENST00000280187.7	37	c.259_260GG>CT	CCDS3824.1																																																																																				0.401	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			6	14	0	0	0	0.004672	0	6	14				
TENM3	55714	broad.mit.edu	37	4	183713425	183713425	+	Splice_Site	SNP	A	A	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr4:183713425A>G	ENST00000511685.1	+	26	5724		c.e26-1		TENM3_ENST00000406950.2_Splice_Site			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3						camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTCTCTTTACAGTCCATGGTT	0.478																																							uc003ivd.1		NA																	0					0						c.e25-2		odz, odd Oz/ten-m homolog 3							90.0	91.0	91.0					4																	183713425		2029	4186	6215	SO:0001630	splice_region_variant	55714				signal transduction	integral to membrane		g.chr4:183713425A>G	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5602-1A>G	4.37:g.183713425A>G							p.S1868_splice	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	25	5639	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)						Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Splice_Site	SNP	ENST00000511685.1	37	c.5602_splice	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.539488	0.45176	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2016	0.73142	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ODZ3	183950419	1.000000	0.71417	0.997000	0.53966	0.555000	0.35460	8.977000	0.93446	2.171000	0.68590	0.482000	0.46254	.		0.478	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		Intron	12	29	0	0	0	0.000978	0	12	29				
CDH12	1010	broad.mit.edu	37	5	21842393	21842393	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr5:21842393C>A	ENST00000382254.1	-	8	1777	c.691G>T	c.(691-693)Gaa>Taa	p.E231*	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Nonsense_Mutation_p.E231*|CDH12_ENST00000522262.1_Nonsense_Mutation_p.E191*	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	231	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TGATATTGTTCTTTGACTTCT	0.383										HNSCC(59;0.17)																													uc010iuc.2		NA																	0				ovary(2)	2						c.(691-693)GAA>TAA		cadherin 12, type 2 preproprotein							246.0	198.0	214.0					5																	21842393		2203	4300	6503	SO:0001587	stop_gained	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21842393C>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.691G>T	5.37:g.21842393C>A	ENSP00000371689:p.Glu231*	HNSCC(59;0.17)				CDH12_uc011cno.1_Nonsense_Mutation_p.E191*|CDH12_uc003jgk.2_Nonsense_Mutation_p.E231*	p.E231*	NM_004061	NP_004052	P55289	CAD12_HUMAN			5	1149	-			231			Extracellular (Potential).|Cadherin 2.		B2RBT1|B7Z2U6|Q86UD2	Nonsense_Mutation	SNP	ENST00000382254.1	37	c.691G>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	43	10.446319	0.99406	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.0468	0.93022	0.0:1.0:0.0:0.0	.	.	.	.	X	231;231;191	.	ENSP00000371689:E231X	E	-	1	0	CDH12	21878150	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.666000	0.83877	2.480000	0.83734	0.655000	0.94253	GAA		0.383	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		27	40	1	0	2.65835e-16	0.007291	4.81234e-16	27	40				
IL7R	3575	broad.mit.edu	37	5	35871289	35871289	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr5:35871289C>A	ENST00000303115.3	+	4	640	c.511C>A	c.(511-513)Cag>Aag	p.Q171K	IL7R_ENST00000343305.4_Missense_Mutation_p.Q171K|IL7R_ENST00000506850.1_Missense_Mutation_p.Q171K	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	171	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGCTTACCGCCAGGAAAAGGA	0.348			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																																uc003jjs.2		NA		Dom	yes		5	5p13	146661		interleukin 7 receptor	yes		L					0				ovary(3)|breast(1)|skin(1)	5						c.(511-513)CAG>AAG		interleukin 7 receptor precursor							74.0	73.0	73.0					5																	35871289		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35871289C>A	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.511C>A	5.37:g.35871289C>A	ENSP00000306157:p.Gln171Lys					IL7R_uc011coo.1_Missense_Mutation_p.Q171K|IL7R_uc011cop.1_RNA	p.Q171K	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		4	600	+	all_lung(31;0.00015)		171			Extracellular (Potential).|Fibronectin type-III.		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.511C>A	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.606172	0.46527	.	.	ENSG00000168685	ENST00000303115;ENST00000343305;ENST00000506850	T;T;T	0.74842	-0.88;-0.88;-0.88	5.41	5.41	0.78517	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.539264	0.20291	N	0.095225	T	0.67785	0.2930	L	0.59436	1.845	0.41639	D	0.989063	B;B	0.33198	0.109;0.401	B;B	0.28465	0.063;0.09	T	0.64694	-0.6347	10	0.15066	T	0.55	-18.401	14.6955	0.69118	0.0:1.0:0.0:0.0	.	171;171	D6RGV2;P16871	.;IL7RA_HUMAN	K	171	ENSP00000306157:Q171K;ENSP00000345819:Q171K;ENSP00000421207:Q171K	ENSP00000306157:Q171K	Q	+	1	0	IL7R	35907046	0.540000	0.26410	1.000000	0.80357	0.896000	0.52359	1.185000	0.32065	2.536000	0.85505	0.655000	0.94253	CAG		0.348	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			10	30	1	0	5.50884e-06	0.001368	7.33444e-06	10	30				
MCC	4163	broad.mit.edu	37	5	112418664	112418664	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr5:112418664C>G	ENST00000302475.4	-	9	1670	c.1107G>C	c.(1105-1107)caG>caC	p.Q369H	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.Q559H|MCC_ENST00000515367.2_Missense_Mutation_p.Q306H	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	369					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TGGAGCAGTCCTGAAGTGAGT	0.448																																							uc003kqj.3		NA																	0				ovary(1)	1						c.(1105-1107)CAG>CAC		mutated in colorectal cancers isoform 2							153.0	144.0	147.0					5																	112418664		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112418664C>G		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1107G>C	5.37:g.112418664C>G	ENSP00000305617:p.Gln369His					MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.Q559H|MCC_uc011cwb.1_Missense_Mutation_p.Q369H|MCC_uc010jcd.1_Missense_Mutation_p.Q331H	p.Q369H	NM_002387	NP_002378	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	9	1637	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	369					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.1107G>C	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445664	0.63178	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.39406	2.26;2.27;1.08	4.92	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	L	0.27053	0.805	0.52501	D	0.999955	D;P;D;D	0.60575	0.98;0.676;0.988;0.976	D;B;D;P	0.74674	0.948;0.216;0.984;0.644	T	0.45160	-0.9280	10	0.66056	D	0.02	-27.2633	6.3953	0.21609	0.0:0.672:0.0:0.328	.	369;331;559;369	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	H	369;306;559	ENSP00000305617:Q369H;ENSP00000421615:Q306H;ENSP00000386227:Q559H	ENSP00000305617:Q369H	Q	-	3	2	MCC	112446563	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.544000	0.45761	1.189000	0.43028	0.467000	0.42956	CAG		0.448	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		19	29	0	0	0	0.008871	0	19	29				
DMXL1	1657	broad.mit.edu	37	5	118440930	118440930	+	Missense_Mutation	SNP	A	A	G	rs565699405		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr5:118440930A>G	ENST00000311085.8	+	4	421	c.341A>G	c.(340-342)cAc>cGc	p.H114R	DMXL1_ENST00000539542.1_Missense_Mutation_p.H114R	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	114										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCAATAGCACACAATATAACC	0.308													A|||	1	0.000199681	0.0	0.0	5008	,	,		18416	0.001		0.0	False		,,,				2504	0.0						uc003ksd.2		NA																	0				ovary(2)	2						c.(340-342)CAC>CGC		Dmx-like 1							77.0	79.0	79.0					5																	118440930		2202	4298	6500	SO:0001583	missense	1657							g.chr5:118440930A>G	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.341A>G	5.37:g.118440930A>G	ENSP00000309690:p.His114Arg					DMXL1_uc010jcl.1_Missense_Mutation_p.H114R|DMXL1_uc003ksc.1_Missense_Mutation_p.H114R	p.H114R	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	4	522	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	114			WD 1.			Missense_Mutation	SNP	ENST00000311085.8	37	c.341A>G	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.842055	0.32513	.	.	ENSG00000172869	ENST00000503802;ENST00000311085;ENST00000539542	T;T;T	0.64438	2.88;-0.1;2.88	5.88	4.7	0.59300	WD40 repeat-like-containing domain (1);	0.046617	0.85682	D	0.000000	T	0.46405	0.1391	N	0.20986	0.625	0.51012	D	0.999906	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.28202	-1.0051	10	0.24483	T	0.36	-4.3571	12.0935	0.53742	0.8709:0.0:0.0:0.1291	.	114;114	F5H269;Q9Y485	.;DMXL1_HUMAN	R	114	ENSP00000427692:H114R;ENSP00000309690:H114R;ENSP00000439479:H114R	ENSP00000309690:H114R	H	+	2	0	DMXL1	118468829	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.874000	0.56101	1.024000	0.39682	0.477000	0.44152	CAC		0.308	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		6	13	0	0	0	0.001984	0	6	13				
SLC12A2	6558	broad.mit.edu	37	5	127488418	127488418	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr5:127488418A>T	ENST00000262461.2	+	15	2473	c.2284A>T	c.(2284-2286)Aca>Tca	p.T762S	SLC12A2_ENST00000343225.4_Missense_Mutation_p.T762S	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	762					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	GGGATCCTCTACACAAGCCCT	0.403																																							uc003kus.2		NA																	0				ovary(3)	3						c.(2284-2286)ACA>TCA		solute carrier family 12	Bumetanide(DB00887)|Potassium Chloride(DB00761)						137.0	128.0	131.0					5																	127488418		2203	4300	6503	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127488418A>T		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2284A>T	5.37:g.127488418A>T	ENSP00000262461:p.Thr762Ser					SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.T762S	p.T762S	NM_001046	NP_001037	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	15	2448	+		all_cancers(142;0.0972)|Prostate(80;0.151)	762			Extracellular (Potential).		Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.2284A>T	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	A	19.50	3.839503	0.71488	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98567	-5.0;-5.0	5.24	5.24	0.73138	Amino acid permease domain (1);	0.110660	0.64402	D	0.000009	D	0.97567	0.9203	L	0.37507	1.11	0.80722	D	1	D;D	0.57257	0.974;0.979	P;P	0.56563	0.7;0.801	D	0.98308	1.0522	10	0.62326	D	0.03	.	15.3114	0.74035	1.0:0.0:0.0:0.0	.	762;762	P55011-3;P55011	.;S12A2_HUMAN	S	762	ENSP00000262461:T762S;ENSP00000340878:T762S	ENSP00000262461:T762S	T	+	1	0	SLC12A2	127516317	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	7.245000	0.78237	2.211000	0.71520	0.455000	0.32223	ACA		0.403	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		13	67	0	0	0	0.00245	0	13	67				
AFF4	27125	broad.mit.edu	37	5	132228047	132228047	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr5:132228047C>A	ENST00000265343.5	-	13	2825	c.2446G>T	c.(2446-2448)Gct>Tct	p.A816S	AFF4_ENST00000378595.3_Missense_Mutation_p.A816S	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	816					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAGGCCCAGCGGGAGAAGGC	0.448																																					Ovarian(126;889 1733 2942 10745 11605)	Ovarian(126;889 1733 2942 10745 11605)	uc003kyd.2		NA																	0				ovary(2)|kidney(2)|skin(1)	5						c.(2446-2448)GCT>TCT		ALL1 fused gene from 5q31							107.0	110.0	109.0					5																	132228047		2203	4300	6503	SO:0001583	missense	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132228047C>A	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2446G>T	5.37:g.132228047C>A	ENSP00000265343:p.Ala816Ser					AFF4_uc011cxk.1_Missense_Mutation_p.A494S|AFF4_uc003kye.1_Missense_Mutation_p.A816S	p.A816S	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		13	2854	-		all_cancers(142;0.145)|Breast(839;0.198)	816					B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	c.2446G>T	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478198	0.63849	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.62364	0.03;0.03	5.68	5.68	0.88126	.	0.246810	0.41938	D	0.000791	T	0.61739	0.2371	N	0.12569	0.235	0.45139	D	0.998151	D;B	0.76494	0.999;0.367	D;B	0.85130	0.997;0.165	T	0.54970	-0.8213	10	0.06757	T	0.87	-11.7626	17.9742	0.89122	0.0:1.0:0.0:0.0	.	816;816	Q9UHB7-2;Q9UHB7	.;AFF4_HUMAN	S	816	ENSP00000265343:A816S;ENSP00000367858:A816S	ENSP00000265343:A816S	A	-	1	0	AFF4	132255946	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.243000	0.58721	2.677000	0.91161	0.563000	0.77884	GCT		0.448	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		26	83	1	0	9.86323e-18	0.003954	1.82889e-17	26	83				
PCDHA12	56137	broad.mit.edu	37	5	140255495	140255495	+	Silent	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr5:140255495G>A	ENST00000398631.2	+	1	438	c.438G>A	c.(436-438)gcG>gcA	p.A146A	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	146	Cadherin 2. {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)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAATCTGCGCCTCTGGACT	0.483																																					Pancreas(113;759 1672 13322 24104 50104)	Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2		NA																	0					0						c.(436-438)GCG>GCA		protocadherin alpha 12 isoform 1 precursor							70.0	81.0	77.0					5																	140255495		2203	4300	6503	SO:0001819	synonymous_variant	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140255495G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.438G>A	5.37:g.140255495G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.A146A	p.A146A	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	565	+			146			Extracellular (Potential).|Cadherin 2.		O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.438G>A	CCDS47285.1																																																																																				0.483	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		24	71	0	0	0	0.00333	0	24	71				
PCDHB16	57717	broad.mit.edu	37	5	140562299	140562299	+	Silent	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr5:140562299G>A	ENST00000361016.2	+	1	1320	c.165G>A	c.(163-165)ggG>ggA	p.G55G		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	55	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGGGTTGGGGTTGACAGAGA	0.532																																							uc003liv.2		NA																	0				ovary(1)|pancreas(1)	2						c.(163-165)GGG>GGA		protocadherin beta 16 precursor							83.0	94.0	91.0					5																	140562299		2203	4300	6503	SO:0001819	synonymous_variant	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140562299G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.165G>A	5.37:g.140562299G>A						PCDHB16_uc010jfw.1_Intron	p.G55G	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1320	+			55			Extracellular (Potential).|Cadherin 1.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.165G>A	CCDS4251.1																																																																																				0.532	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		42	47	0	0	0	0.00874	0	42	47				
PCDHB12	56124	broad.mit.edu	37	5	140590379	140590379	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr5:140590379G>T	ENST00000239450.2	+	1	2089	c.1900G>T	c.(1900-1902)Gac>Tac	p.D634Y	PCDHB12_ENST00000541609.1_Missense_Mutation_p.D297Y	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	634	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCGAGCGCGACGCGGCCAA	0.697																																							uc003liz.2		NA																	0				skin(2)|ovary(1)	3						c.(1900-1902)GAC>TAC		protocadherin beta 12 precursor							8.0	11.0	10.0					5																	140590379		1685	3354	5039	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590379G>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1900G>T	5.37:g.140590379G>T	ENSP00000239450:p.Asp634Tyr					PCDHB12_uc011dak.1_Missense_Mutation_p.D297Y	p.D634Y	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2089	+			634			Extracellular (Potential).|Cadherin 6.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1900G>T	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302641	0.81136	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.51817	0.69;0.69	3.67	3.67	0.42095	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.74794	0.3763	M	0.92604	3.325	0.48087	D	0.999583	D	0.89917	1.0	D	0.79784	0.993	T	0.83245	-0.0056	9	0.87932	D	0	.	15.3973	0.74805	0.0:0.0:1.0:0.0	.	634	Q9Y5F1	PCDBC_HUMAN	Y	297;634;254	ENSP00000440199:D297Y;ENSP00000239450:D634Y	ENSP00000239450:D634Y	D	+	1	0	PCDHB12	140570563	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	6.657000	0.74402	1.774000	0.52232	0.479000	0.44913	GAC		0.697	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		12	81	1	0	3.41278e-10	0.00499	5.37132e-10	12	81				
PCYOX1L	78991	broad.mit.edu	37	5	148747747	148747747	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr5:148747747G>T	ENST00000274569.4	+	6	1077	c.1015G>T	c.(1015-1017)Ggc>Tgc	p.G339C	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.G249C	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	339					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGGTCCACGGCTACCTCAA	0.552											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(62;1136 1477 27277 27495)	Ovarian(62;1136 1477 27277 27495)	uc003lqk.2		NA																	0				skin(1)	1						c.(1015-1017)GGC>TGC		prenylcysteine oxidase 1 like precursor							200.0	189.0	192.0					5																	148747747		2203	4300	6503	SO:0001583	missense	78991				prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	g.chr5:148747747G>T		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.1015G>T	5.37:g.148747747G>T	ENSP00000274569:p.Gly339Cys		OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1719	PCYOX1L_uc003lql.2_Missense_Mutation_p.G322C|PCYOX1L_uc010jgz.2_Missense_Mutation_p.G263C|PCYOX1L_uc003lqm.2_Missense_Mutation_p.G221C|PCYOX1L_uc003lqn.2_Missense_Mutation_p.G249C	p.G339C	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	1077	+			339					Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	37	c.1015G>T	CCDS4296.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728034	0.89390	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.41065	1.01;1.01	5.53	5.53	0.82687	Prenylcysteine lyase (1);	0.000000	0.85682	D	0.000000	T	0.69682	0.3138	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.73658	-0.3913	10	0.72032	D	0.01	-33.6882	19.4696	0.94958	0.0:0.0:1.0:0.0	.	221;249;339	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	C	339;249	ENSP00000274569:G339C;ENSP00000428512:G249C	ENSP00000274569:G339C	G	+	1	0	PCYOX1L	148727940	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	9.835000	0.99442	2.590000	0.87494	0.561000	0.74099	GGC		0.552	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		43	125	1	0	1.22674e-20	0.00874	2.35083e-20	43	125				
FAT2	2196	broad.mit.edu	37	5	150928985	150928985	+	Missense_Mutation	SNP	G	G	T	rs374336586		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr5:150928985G>T	ENST00000261800.5	-	8	4672	c.4660C>A	c.(4660-4662)Cgc>Agc	p.R1554S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1554	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAGTGAAGCGGGGTGGGTGG	0.572																																							uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(4660-4662)CGC>AGC		FAT tumor suppressor 2 precursor							78.0	71.0	73.0					5																	150928985		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150928985G>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4660C>A	5.37:g.150928985G>T	ENSP00000261800:p.Arg1554Ser					GM2A_uc011dcs.1_Intron	p.R1554S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	4673	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1554			Extracellular (Potential).|Cadherin 13.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.4660C>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	2.289	-0.362873	0.05103	.	.	ENSG00000086570	ENST00000261800	T	0.60797	0.16	4.66	1.7	0.24286	Cadherin (2);Cadherin-like (1);	0.983011	0.08325	N	0.963241	T	0.37156	0.0993	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22695	-1.0209	10	0.22109	T	0.4	.	5.8953	0.18935	0.2147:0.0:0.6534:0.1319	.	1554	Q9NYQ8	FAT2_HUMAN	S	1554	ENSP00000261800:R1554S	ENSP00000261800:R1554S	R	-	1	0	FAT2	150909178	0.000000	0.05858	0.010000	0.14722	0.441000	0.31987	0.696000	0.25541	0.509000	0.28195	-1.066000	0.02275	CGC		0.572	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		9	35	1	0	1.58986e-06	0.008291	2.19325e-06	9	35				
FAT2	2196	broad.mit.edu	37	5	150947298	150947298	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr5:150947298G>A	ENST00000261800.5	-	1	1207	c.1195C>T	c.(1195-1197)Cca>Tca	p.P399S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	399	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTGAAGATGGCTTTAGAACA	0.498																																							uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(1195-1197)CCA>TCA		FAT tumor suppressor 2 precursor							74.0	74.0	74.0					5																	150947298		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947298G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1195C>T	5.37:g.150947298G>A	ENSP00000261800:p.Pro399Ser					GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.P399S	p.P399S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1208	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	399			Extracellular (Potential).|Cadherin 3.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.1195C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	3.117	-0.181429	0.06340	.	.	ENSG00000086570	ENST00000261800	T	0.58210	0.35	5.59	4.71	0.59529	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000005	T	0.29850	0.0746	N	0.20530	0.585	0.35191	D	0.773412	B	0.17852	0.024	B	0.12156	0.007	T	0.26883	-1.0090	10	0.05436	T	0.98	.	8.4467	0.32847	0.0719:0.0:0.6701:0.258	.	399	Q9NYQ8	FAT2_HUMAN	S	399	ENSP00000261800:P399S	ENSP00000261800:P399S	P	-	1	0	FAT2	150927491	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	1.598000	0.36740	2.642000	0.89623	0.561000	0.74099	CCA		0.498	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		19	30	0	0	0	0.007413	0	19	30				
TENM2	57451	broad.mit.edu	37	5	167645193	167645193	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr5:167645193G>T	ENST00000518659.1	+	23	4336	c.4297G>T	c.(4297-4299)Gag>Tag	p.E1433*	TENM2_ENST00000545108.1_Nonsense_Mutation_p.E1432*|TENM2_ENST00000520394.1_Nonsense_Mutation_p.E1194*|TENM2_ENST00000519204.1_Nonsense_Mutation_p.E1312*|TENM2_ENST00000403607.2_Nonsense_Mutation_p.E1257*	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1433					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GTATGTTCTAGAGAACAATGT	0.493																																							uc010jjd.2		NA																	0				ovary(6)|central_nervous_system(4)	10						c.(4270-4272)GAG>TAG		odz, odd Oz/ten-m homolog 2							153.0	154.0	154.0					5																	167645193		2092	4244	6336	SO:0001587	stop_gained	57451							g.chr5:167645193G>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4297G>T	5.37:g.167645193G>T	ENSP00000429430:p.Glu1433*					ODZ2_uc003lzr.3_Nonsense_Mutation_p.E1194*|ODZ2_uc003lzt.3_Nonsense_Mutation_p.E797*|ODZ2_uc010jje.2_Nonsense_Mutation_p.E688*	p.E1424*	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	23	4270	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Nonsense_Mutation	SNP	ENST00000518659.1	37	c.4270G>T		.	.	.	.	.	.	.	.	.	.	G	44	10.578375	0.99431	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	.	.	.	5.8	5.8	0.92144	.	0.087356	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0545	0.97645	0.0:0.0:1.0:0.0	.	.	.	.	X	1433;1432;1312;1194;1257	.	ENSP00000384905:E1257X	E	+	1	0	ODZ2	167577771	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.869000	0.99810	2.748000	0.94277	0.655000	0.94253	GAG		0.493	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		21	96	1	0	7.41877e-09	0.001882	1.1177e-08	21	96				
ZNF346	23567	broad.mit.edu	37	5	176471400	176471400	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr5:176471400G>T	ENST00000358149.3	+	4	426	c.383G>T	c.(382-384)aGa>aTa	p.R128I	ZNF346_ENST00000261948.4_Missense_Mutation_p.R153I|ZNF346_ENST00000503039.1_Missense_Mutation_p.R153I|ZNF346_ENST00000503425.1_Missense_Mutation_p.R96I|ZNF346_ENST00000511834.1_Missense_Mutation_p.R128I|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000506693.1_Intron	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	128					positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGAGCAGCAGAAGCAAAGAC	0.522																																							uc003mfi.2		NA																	0					0						c.(382-384)AGA>ATA		zinc finger protein 346							157.0	140.0	146.0					5																	176471400		2203	4300	6503	SO:0001583	missense	23567					cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding	g.chr5:176471400G>T	AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.383G>T	5.37:g.176471400G>T	ENSP00000350869:p.Arg128Ile					ZNF346_uc011dfr.1_Missense_Mutation_p.R96I|ZNF346_uc011dfs.1_Intron|ZNF346_uc003mfj.2_Intron|ZNF346_uc003mfk.1_Missense_Mutation_p.R153I|ZNF346_uc011dft.1_Intron	p.R128I	NM_012279	NP_036411	Q9UL40	ZN346_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	426	+	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	128					B7Z367|Q68CV9|Q6ZMW1	Missense_Mutation	SNP	ENST00000358149.3	37	c.383G>T	CCDS4409.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801253	0.70567	.	.	ENSG00000113761	ENST00000358149;ENST00000503425;ENST00000261948;ENST00000511834;ENST00000503039	T;T;T;T;T	0.48522	0.87;0.81;0.87;0.87;0.87	5.29	4.4	0.53042	.	0.449338	0.25686	N	0.028976	T	0.46833	0.1413	N	0.24115	0.695	0.43187	D	0.995015	D;D;D	0.71674	0.998;0.996;0.997	D;D;P	0.65874	0.939;0.931;0.806	T	0.35724	-0.9777	10	0.37606	T	0.19	.	6.6182	0.22788	0.2587:0.0:0.7413:0.0	.	96;153;128	B7Z367;Q9UL40-2;Q9UL40	.;.;ZN346_HUMAN	I	128;96;153;128;153	ENSP00000350869:R128I;ENSP00000421212:R96I;ENSP00000261948:R153I;ENSP00000425725:R128I;ENSP00000424495:R153I	ENSP00000261948:R153I	R	+	2	0	ZNF346	176404006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.902000	0.48703	2.620000	0.88729	0.637000	0.83480	AGA		0.522	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253415.2	NM_012279		21	40	1	0	2.37509e-13	0.001523	4.07413e-13	21	40				
HDGFL1	154150	broad.mit.edu	37	6	22569783	22569783	+	5'UTR	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr6:22569783G>T	ENST00000230012.3	+	0	106				HDGFL1_ENST00000510882.2_5'Flank	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1											kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					GTGTGGCCCAGGCGGGGTCCG	0.657																																							uc003nds.2		NA																	0					0						c.(-23--19)CAGGC>CATGC		hepatoma derived growth factor-like 1							34.0	37.0	36.0					6																	22569783		2203	4300	6503	SO:0001623	5_prime_UTR_variant	154150							g.chr6:22569783G>T	AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"""PWWP domain containing 1"""	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.-22G>T	6.37:g.22569783G>T								NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN			1	106	+	Ovarian(93;0.163)							Q96MJ6	Translation_Start_Site	SNP	ENST00000230012.3	37	c.-21G>T	CCDS34347.1																																																																																				0.657	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043500.1	NM_138574		13	23	1	0	7.93312e-07	0.00245	1.11453e-06	13	23				
MRPS18B	28973	broad.mit.edu	37	6	30593483	30593483	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr6:30593483G>T	ENST00000259873.4	+	7	843	c.686G>T	c.(685-687)gGc>gTc	p.G229V	ATAT1_ENST00000318999.7_5'Flank|ATAT1_ENST00000376485.4_5'Flank|ATAT1_ENST00000330083.5_5'Flank|MRPS18B_ENST00000472229.1_3'UTR|ATAT1_ENST00000329992.8_5'Flank|ATAT1_ENST00000376478.2_5'Flank|MRPS18B_ENST00000506373.2_3'UTR|ATAT1_ENST00000319027.5_5'Flank|ATAT1_ENST00000376483.4_5'Flank	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	229					translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						GAAGAGAGTGGCCCCCCACCT	0.597																																							uc003nqo.2		NA																	0				ovary(1)	1						c.(685-687)GGC>GTC		mitochondrial ribosomal protein S18B precursor							93.0	100.0	97.0					6																	30593483		1510	2709	4219	SO:0001583	missense	28973				translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr6:30593483G>T	AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"""Mitochondrial ribosomal proteins / small subunits"""	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268	ENST00000259873.4:c.686G>T	6.37:g.30593483G>T	ENSP00000259873:p.Gly229Val					MRPS18B_uc011dml.1_3'UTR|MRPS18B_uc010jsd.1_Missense_Mutation_p.G186V|C6orf134_uc003nqr.3_5'Flank|C6orf134_uc003rdc.2_5'Flank|C6orf134_uc003nqs.3_5'Flank|C6orf134_uc003rdd.2_5'Flank|C6orf134_uc003nqu.2_5'Flank|C6orf134_uc003nqt.2_5'Flank|C6orf134_uc011dmm.1_5'Flank|C6orf134_uc003nqv.2_5'Flank	p.G229V	NM_014046	NP_054765	Q9Y676	RT18B_HUMAN			7	843	+			229					A6NDQ0|Q659G4|Q9BS27	Missense_Mutation	SNP	ENST00000259873.4	37	c.686G>T	CCDS4682.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963394	0.74016	.	.	ENSG00000204568	ENST00000259873;ENST00000376508	T	0.51817	0.69	5.43	4.56	0.56223	.	0.073836	0.50627	D	0.000118	T	0.54127	0.1839	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71870	0.975;0.945	T	0.61088	-0.7133	10	0.87932	D	0	.	11.6368	0.51209	0.0831:0.0:0.9169:0.0	.	186;229	Q5STN0;Q9Y676	.;RT18B_HUMAN	V	229;186	ENSP00000259873:G229V	ENSP00000259873:G229V	G	+	2	0	MRPS18B	30701462	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.274000	0.51631	1.528000	0.49103	-0.150000	0.13652	GGC		0.597	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076584.2			9	121	1	0	7.48243e-07	0.006214	1.05445e-06	9	121				
TNF	7124	broad.mit.edu	37	6	31545256	31545256	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr6:31545256C>A	ENST00000449264.2	+	4	819	c.644C>A	c.(643-645)cCc>cAc	p.P215H		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	215					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)	p.P215L(1)|p.P215>?(1)		large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	ATCAATCGGCCCGACTATCTC	0.602									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																														uc003nui.2		NA																	2	Substitution - Missense(1)|Complex(1)		lung(1)|skin(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(643-645)CCC>CAC		tumor necrosis factor alpha	Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)						63.0	63.0	63.0					6																	31545256		1510	2709	4219	SO:0001583	missense	7124	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding	g.chr6:31545256C>A	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"""Tumor necrosis factor (ligand) superfamily"""	11892	protein-coding gene	gene with protein product	"""TNF superfamily, member 2"""	191160	"""tumor necrosis factor (TNF superfamily, member 2)"""	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.644C>A	6.37:g.31545256C>A	ENSP00000398698:p.Pro215His					TNF_uc003nuj.2_Missense_Mutation_p.P67T	p.P215H	NM_000594	NP_000585	P01375	TNFA_HUMAN			4	813	+		Ovarian(999;0.00556)	215			Extracellular (Potential).		O43647|Q9P1Q2|Q9UIV3	Missense_Mutation	SNP	ENST00000449264.2	37	c.644C>A	CCDS4702.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464212	0.43736	.	.	ENSG00000232810	ENST00000449264	T	0.46819	0.86	5.4	5.4	0.78164	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.204246	0.43260	D	0.000599	T	0.71151	0.3306	M	0.93462	3.42	0.27633	N	0.947953	D	0.89917	1.0	D	0.87578	0.998	T	0.71314	-0.4630	10	0.72032	D	0.01	.	16.6736	0.85273	0.0:1.0:0.0:0.0	.	215	P01375	TNFA_HUMAN	H	215	ENSP00000398698:P215H	ENSP00000398698:P215H	P	+	2	0	TNF	31653235	0.049000	0.20398	0.344000	0.25628	0.212000	0.24457	2.090000	0.41682	2.537000	0.85549	0.561000	0.74099	CCC		0.602	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076390.2			16	28	1	0	1.45105e-14	0.006122	2.54629e-14	16	28				
PKHD1	5314	broad.mit.edu	37	6	51935228	51935228	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr6:51935228C>A	ENST00000371117.3	-	10	958	c.683G>T	c.(682-684)aGc>aTc	p.S228I	PKHD1_ENST00000340994.4_Missense_Mutation_p.S228I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	228	IPT/TIG 2.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TACTGAGAAGCTAACATTCTG	0.388																																							uc003pah.1		NA																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(682-684)AGC>ATC		fibrocystin isoform 1							102.0	96.0	98.0					6																	51935228		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51935228C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.683G>T	6.37:g.51935228C>A	ENSP00000360158:p.Ser228Ile					PKHD1_uc003pai.2_Missense_Mutation_p.S228I	p.S228I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			10	959	-	Lung NSC(77;0.0605)		228			IPT/TIG 2.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.683G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114681	0.77210	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.89681	-2.34;-2.55	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.92616	0.7654	M	0.69823	2.125	0.35832	D	0.825382	D;D	0.89917	1.0;0.959	D;P	0.87578	0.998;0.532	D	0.92871	0.6314	10	0.48119	T	0.1	.	16.0397	0.80654	0.0:1.0:0.0:0.0	.	228;228	P08F94-2;P08F94	.;PKHD1_HUMAN	I	228	ENSP00000360158:S228I;ENSP00000341097:S228I	ENSP00000341097:S228I	S	-	2	0	PKHD1	52043187	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.088000	0.50175	2.458000	0.83093	0.644000	0.83932	AGC		0.388	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		12	15	1	0	4.3838e-07	0.001855	6.25477e-07	12	15				
BMP5	653	broad.mit.edu	37	6	55623883	55623883	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr6:55623883C>A	ENST00000370830.3	-	6	1833	c.1135G>T	c.(1135-1137)Gca>Tca	p.A379S	BMP5_ENST00000446683.2_Intron	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	379					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CAATAAAATGCAGCGTATCCT	0.348																																							uc003pcq.2		NA																	0				ovary(2)	2						c.(1135-1137)GCA>TCA		bone morphogenetic protein 5 preproprotein							154.0	143.0	146.0					6																	55623883		2203	4300	6503	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55623883C>A		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.1135G>T	6.37:g.55623883C>A	ENSP00000359866:p.Ala379Ser					BMP5_uc011dxf.1_Intron	p.A379S	NM_021073	NP_066551	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		6	1847	-	Lung NSC(77;0.0462)		379					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.1135G>T	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	C	35	5.447051	0.96205	.	.	ENSG00000112175	ENST00000370830	D	0.86432	-2.12	5.67	5.67	0.87782	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95385	0.8502	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95646	0.8702	10	0.87932	D	0	.	20.1272	0.97986	0.0:1.0:0.0:0.0	.	379	P22003	BMP5_HUMAN	S	379	ENSP00000359866:A379S	ENSP00000359866:A379S	A	-	1	0	BMP5	55731842	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.818000	0.86416	2.828000	0.97474	0.655000	0.94253	GCA		0.348	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			18	36	1	0	0.00498961	0.00499	0.00599801	18	36				
PRIM2	5558	broad.mit.edu	37	6	57512605	57512605	+	3'UTR	SNP	A	A	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr6:57512605A>G	ENST00000389488.2	+	0	1520				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CCAAGTGTCCAGAAAACCAAG	0.398																																							uc003pdx.2		NA																	0					0						c.(1432-1434)CAG>CGG		DNA primase polypeptide 2							409.0	389.0	395.0					6																	57512605		1959	4151	6110	SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57512605A>G		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1517A>G	6.37:g.57512605A>G							p.Q478R	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	15	1520	+			478					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000389488.2	37	c.1433A>G																																																																																					0.398	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947		38	362	0	0	0	0.00623	0	38	362				
EYS	346007	broad.mit.edu	37	6	66112430	66112430	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr6:66112430C>G	ENST00000370621.3	-	7	1651	c.1125G>C	c.(1123-1125)gaG>gaC	p.E375D	EYS_ENST00000370618.3_Missense_Mutation_p.E375D|EYS_ENST00000503581.1_Missense_Mutation_p.E375D|EYS_ENST00000342421.5_Missense_Mutation_p.E375D|EYS_ENST00000370616.2_Missense_Mutation_p.E375D|EYS_ENST00000393380.2_Missense_Mutation_p.E375D			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	375	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.E375D(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAGGAAATGACTCACATGATG	0.284																																							uc011dxu.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(1)|skin(1)	6						c.(1123-1125)GAG>GAC		eyes shut homolog isoform 1							57.0	57.0	57.0					6																	66112430		2202	4287	6489	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66112430C>G		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1125G>C	6.37:g.66112430C>G	ENSP00000359655:p.Glu375Asp					EYS_uc003peq.2_Missense_Mutation_p.E375D|EYS_uc003per.1_Missense_Mutation_p.E375D	p.E375D	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			7	1663	-			375			EGF-like 5.		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.1125G>C		.	.	.	.	.	.	.	.	.	.	C	3.030	-0.199771	0.06219	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	4.36	-6.27	0.02026	.	.	.	.	.	T	0.35508	0.0934	N	0.17312	0.475	0.09310	N	1	B;B;B	0.17667	0.011;0.023;0.014	B;B;B	0.16289	0.011;0.015;0.012	T	0.27123	-1.0083	9	0.13853	T	0.58	.	1.2992	0.02076	0.2419:0.2859:0.0952:0.377	.	375;375;375	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	D	375	ENSP00000424243:E375D;ENSP00000359655:E375D;ENSP00000359650:E375D;ENSP00000377042:E375D;ENSP00000341818:E375D;ENSP00000359652:E375D	ENSP00000341818:E375D	E	-	3	2	EYS	66169151	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.789000	0.01761	-0.940000	0.03705	-0.216000	0.12614	GAG		0.284	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		11	20	0	0	0	0.000978	0	11	20				
KCNQ5	56479	broad.mit.edu	37	6	73904664	73904664	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr6:73904664A>T	ENST00000370398.1	+	14	2435	c.2326A>T	c.(2326-2328)Agc>Tgc	p.S776C	KCNQ5_ENST00000355635.3_Missense_Mutation_p.S777C|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S776C|KCNQ5_ENST00000342056.2_Missense_Mutation_p.S795C|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S767C|KCNQ5_ENST00000414165.2_Missense_Mutation_p.S666C|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S786C	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	776					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CTTACAGGAAAGCATTTCTGA	0.512																																					GBM(142;1375 1859 14391 23261 44706)	GBM(142;1375 1859 14391 23261 44706)	uc003pgk.2		NA																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(2326-2328)AGC>TGC		potassium voltage-gated channel, KQT-like							109.0	97.0	101.0					6																	73904664		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73904664A>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2326A>T	6.37:g.73904664A>T	ENSP00000359425:p.Ser776Cys					KCNQ5_uc011dyh.1_Missense_Mutation_p.S795C|KCNQ5_uc011dyi.1_Missense_Mutation_p.S786C|KCNQ5_uc010kat.2_Missense_Mutation_p.S767C|KCNQ5_uc011dyj.1_Missense_Mutation_p.S666C|KCNQ5_uc011dyk.1_Missense_Mutation_p.S526C	p.S776C	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	14	2673	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	776					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.2326A>T	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.706481	0.48412	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99507	-5.83;-5.84;-5.84;-5.83;-5.84;-5.87;-6.04	5.56	2.98	0.34508	.	0.419586	0.26951	N	0.021668	D	0.98498	0.9499	L	0.47716	1.5	0.09310	N	1	D;D;D;P;D	0.76494	0.999;0.996;0.989;0.876;0.973	D;P;P;B;B	0.69654	0.965;0.724;0.608;0.42;0.43	D	0.96454	0.9336	10	0.54805	T	0.06	.	8.4379	0.32797	0.7707:0.0:0.2293:0.0	.	666;786;795;767;776	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	C	795;795;776;776;786;777;767;666	ENSP00000345055:S795C;ENSP00000347326:S776C;ENSP00000359425:S776C;ENSP00000385501:S786C;ENSP00000347853:S777C;ENSP00000384453:S767C;ENSP00000409861:S666C	ENSP00000345055:S795C	S	+	1	0	KCNQ5	73961385	0.997000	0.39634	0.541000	0.28102	0.995000	0.86356	2.885000	0.48570	0.319000	0.23209	0.533000	0.62120	AGC		0.512	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		11	45	0	0	0	0.008291	0	11	45				
FBXL4	26235	broad.mit.edu	37	6	99374671	99374673	+	Missense_Mutation	TNP	TAA	TAA	ATG			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	TAA	TAA	-	-	TAA	TAA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr6:99374671_99374673TAA>ATG	ENST00000369244.2	-	4	620_622	c.192_194TTA>CAT	c.(190-195)caTTAt>caCATt	p.Y65I	FBXL4_ENST00000229971.1_Missense_Mutation_p.Y65I	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	65					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		CTCACTTCCATAATGGGAACTGA	0.424																																							uc003ppf.1		NA																	0				skin(2)	2						c.(190-195)CATTAT>CACATT		F-box and leucine-rich repeat protein 4																																				SO:0001583	missense	26235				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		g.chr6:99374671_99374673TAA>ATG	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.192_194TTA>CAT	6.37:g.99374671TAA>ATG	ENSP00000358247:p.Tyr65Ile					FBXL4_uc003ppg.1_Missense_Mutation_p.Y65I|FBXL4_uc003pph.1_5'UTR	p.Y65I	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0413)	3	550_552	-		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	65					B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	TNP	ENST00000369244.2	37	c.192_194TTA>CAT	CCDS5041.1																																																																																				0.424	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			15	71	0	0	0	0.004672	0	15	71				
PTPRK	5796	broad.mit.edu	37	6	128403661	128403661	+	Silent	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr6:128403661C>A	ENST00000368215.3	-	10	1697	c.1698G>T	c.(1696-1698)acG>acT	p.T566T	PTPRK_ENST00000368210.3_Silent_p.T566T|PTPRK_ENST00000368213.5_Silent_p.T566T|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Silent_p.T566T|PTPRK_ENST00000368227.3_Silent_p.T566T|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368226.4_Silent_p.T566T|PTPRK_ENST00000532331.1_Silent_p.T566T			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	566	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AAAACTGGTACGTGGTTCCAG	0.458																																							uc003qbk.2		NA																	0				ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8						c.(1696-1698)ACG>ACT		protein tyrosine phosphatase, receptor type, K							156.0	150.0	152.0					6																	128403661		2203	4300	6503	SO:0001819	synonymous_variant	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128403661C>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1698G>T	6.37:g.128403661C>A						PTPRK_uc003qbj.2_Silent_p.T566T|PTPRK_uc010kfc.2_Silent_p.T566T|PTPRK_uc011ebu.1_Silent_p.T566T|PTPRK_uc003qbl.1_Silent_p.T436T|PTPRK_uc011ebv.1_Silent_p.T566T	p.T566T	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	10	2065	-			566			Extracellular (Potential).|Fibronectin type-III 3.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Silent	SNP	ENST00000368215.3	37	c.1698G>T																																																																																					0.458	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			24	40	1	0	6.32553e-13	0.004656	1.07699e-12	24	40				
SYNE1	23345	broad.mit.edu	37	6	152469466	152469466	+	Silent	SNP	T	T	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr6:152469466T>C	ENST00000367255.5	-	137	25291	c.24690A>G	c.(24688-24690)gaA>gaG	p.E8230E	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Silent_p.E7842E|SYNE1_ENST00000539504.1_Silent_p.E385E|SYNE1_ENST00000356820.4_Silent_p.E2754E|SYNE1_ENST00000448038.1_Silent_p.E8159E|SYNE1_ENST00000265368.4_Silent_p.E8230E|SYNE1_ENST00000354674.4_Silent_p.E385E|SYNE1_ENST00000423061.1_Silent_p.E8159E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8230					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGCAGAGTCTTCCAGCTCCA	0.582										HNSCC(10;0.0054)																													uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(24688-24690)GAA>GAG		spectrin repeat containing, nuclear envelope 1							60.0	61.0	61.0					6																	152469466		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152469466T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24690A>G	6.37:g.152469466T>C		HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Silent_p.E2754E|SYNE1_uc003qos.3_Silent_p.E2754E|SYNE1_uc003qot.3_Silent_p.E8159E|SYNE1_uc003qou.3_Silent_p.E8230E|SYNE1_uc003qop.3_Silent_p.E392E|SYNE1_uc011eez.1_Silent_p.E432E|SYNE1_uc003qoq.3_Silent_p.E432E|SYNE1_uc003qor.3_Silent_p.E1130E	p.E8230E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	137	25292	-		Ovarian(120;0.0955)	8230			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.24690A>G	CCDS5236.2																																																																																				0.582	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		13	20	0	0	0	0.001855	0	13	20				
TULP4	56995	broad.mit.edu	37	6	158902193	158902193	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr6:158902193T>C	ENST00000367097.3	+	8	2715	c.1358T>C	c.(1357-1359)gTg>gCg	p.V453A	TULP4_ENST00000367094.2_Missense_Mutation_p.V453A	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	453					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GACCCGGAGGTGGGCGGCCCG	0.617																																							uc003qrf.2		NA																	0				ovary(1)	1						c.(1357-1359)GTG>GCG		tubby like protein 4 isoform 1							56.0	61.0	59.0					6																	158902193		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158902193T>C		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1358T>C	6.37:g.158902193T>C	ENSP00000356064:p.Val453Ala					TULP4_uc011efo.1_Missense_Mutation_p.V453A|TULP4_uc003qrg.2_Missense_Mutation_p.V453A	p.V453A	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	8	2715	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	453					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.1358T>C	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.237658	0.58886	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.62941	-0.01;-0.01	5.31	5.31	0.75309	Tumour necrosis factor-like (1);	0.000000	0.85682	D	0.000000	T	0.19366	0.0465	N	0.02539	-0.55	0.58432	D	0.999999	B;B;B	0.13145	0.002;0.002;0.007	B;B;B	0.12837	0.001;0.002;0.008	T	0.15780	-1.0425	10	0.14252	T	0.57	-24.8811	15.2682	0.73678	0.0:0.0:0.0:1.0	.	453;453;453	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	A	453	ENSP00000356064:V453A;ENSP00000356061:V453A	ENSP00000356061:V453A	V	+	2	0	TULP4	158822181	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.674000	0.61612	2.016000	0.59253	0.459000	0.35465	GTG		0.617	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		11	56	0	0	0	0.008291	0	11	56				
LPA	4018	broad.mit.edu	37	6	160953593	160953593	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr6:160953593C>A	ENST00000316300.5	-	38	5975	c.5931G>T	c.(5929-5931)gaG>gaT	p.E1977D	LPA_ENST00000447678.1_Missense_Mutation_p.E1977D			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4485	Kringle 18. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGCCAAATGCTCAGCACAAA	0.453																																							uc003qtl.2		NA																	0				ovary(3)|skin(2)|pancreas(1)	6						c.(5929-5931)GAG>GAT		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						79.0	80.0	79.0					6																	160953593		2154	4282	6436	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160953593C>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5931G>T	6.37:g.160953593C>A	ENSP00000321334:p.Glu1977Asp						p.E1977D	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	39	6051	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4485			Peptidase S1.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.5931G>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	7.410	0.634641	0.14322	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.88201	-2.35;-2.35	1.93	-1.3	0.09259	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.67353	0.2884	N	0.11106	0.095	0.20074	N	0.999937	P	0.49185	0.92	P	0.58130	0.833	T	0.65034	-0.6266	9	0.14656	T	0.56	.	1.3159	0.02107	0.1747:0.4523:0.1726:0.2003	.	4485	P08519	APOA_HUMAN	D	1977	ENSP00000321334:E1977D;ENSP00000395608:E1977D	ENSP00000321334:E1977D	E	-	3	2	LPA	160873583	0.000000	0.05858	0.023000	0.16930	0.028000	0.11728	-0.958000	0.03857	-0.365000	0.08076	0.184000	0.17185	GAG		0.453	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		15	32	1	0	1.05317e-09	0.00245	1.64065e-09	15	32				
PARK2	5071	broad.mit.edu	37	6	162683557	162683557	+	Splice_Site	SNP	C	C	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr6:162683557C>G	ENST00000366898.1	-	3	514	c.412G>C	c.(412-414)Gca>Cca	p.A138P	PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366894.1_Intron|PARK2_ENST00000366892.1_Splice_Site_p.A138P|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Splice_Site_p.A138P	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	138					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TTCCAATTACCTGGACTTCCA	0.488																																							uc003qtx.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(412-414)GCA>CCA		parkin isoform 1							66.0	65.0	65.0					6																	162683557		2203	4300	6503	SO:0001630	splice_region_variant	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162683557C>G		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.412+1G>C	6.37:g.162683557C>G						PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_5'UTR|PARK2_uc003qty.3_Missense_Mutation_p.A138P|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Missense_Mutation_p.A138P	p.A138P	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	3	546	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	138					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.412G>C	CCDS5281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.76|11.76	1.735853|1.735853	0.30774|0.30774	.|.	.|.	ENSG00000185345|ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366892;ENST00000366895|ENST00000542682	D;D;D|.	0.92299|.	-2.9;-3.01;-2.96|.	5.19|5.19	3.29|3.29	0.37713|0.37713	.|.	0.343158|.	0.26646|.	N|.	0.023226|.	T|T	0.40694|0.40694	0.1127|0.1127	L|L	0.55834|0.55834	1.745|1.745	0.34991|0.34991	D|D	0.755034|0.755034	D;P;P|.	0.58970|.	0.984;0.918;0.918|.	P;P;P|.	0.56088|.	0.791;0.451;0.556|.	T|T	0.46470|0.46470	-0.9189|-0.9189	10|6	0.34782|0.66056	T|D	0.22|0.02	.|.	6.5464|6.5464	0.22408|0.22408	0.0:0.7217:0.1817:0.0966|0.0:0.7217:0.1817:0.0966	.|.	138;138;138|.	O60260-5;Q5VVX4;O60260|.	.;.;PRKN2_HUMAN|.	P|R	138;138;138;59|137	ENSP00000355865:A138P;ENSP00000355863:A138P;ENSP00000355858:A138P|.	ENSP00000355858:A138P|ENSP00000443828:G137R	A|G	-|-	1|1	0|0	PARK2|PARK2	162603547|162603547	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.021000|0.021000	0.10359|0.10359	1.835000|1.835000	0.39181|0.39181	1.199000|1.199000	0.43173|0.43173	0.561000|0.561000	0.74099|0.74099	GCA|GGT		0.488	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1		Missense_Mutation	10	47	0	0	0	0.008291	0	10	47				
MLLT4	4301	broad.mit.edu	37	6	168276054	168276054	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr6:168276054G>T	ENST00000447894.2	+	5	618	c.618G>T	c.(616-618)atG>atT	p.M206I	MLLT4_ENST00000344191.4_Missense_Mutation_p.M206I|MLLT4_ENST00000400822.3_Missense_Mutation_p.M205I|MLLT4_ENST00000392108.3_Missense_Mutation_p.M206I|MLLT4_ENST00000366806.2_Missense_Mutation_p.M206I|MLLT4_ENST00000392112.1_Missense_Mutation_p.M205I|MLLT4_ENST00000351017.4_Missense_Mutation_p.M206I			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	206					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ACAAAGACATGCCGGAAACCA	0.373			T	MLL	AL																																		uc003qwd.2		NA		Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(613-615)ATG>ATT		myeloid/lymphoid or mixed-lineage leukemia							135.0	147.0	143.0					6																	168276054		2203	4296	6499	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168276054G>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.618G>T	6.37:g.168276054G>T	ENSP00000404595:p.Met206Ile					MLLT4_uc003qwb.1_Missense_Mutation_p.M205I|MLLT4_uc003qwc.1_Missense_Mutation_p.M206I	p.M205I	NM_001040001	NP_001035090	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	5	757	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	206					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.615G>T		.	.	.	.	.	.	.	.	.	.	G	17.66	3.443553	0.63067	.	.	ENSG00000130396	ENST00000400825;ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400824;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04049	3.92;3.81;3.92;3.91;3.72;3.81;3.81	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.02267	0.0070	L	0.34521	1.04	0.80722	D	1	B;B;B	0.34290	0.447;0.012;0.099	B;B;B	0.28991	0.097;0.01;0.045	T	0.53669	-0.8406	10	0.44086	T	0.13	-9.174	17.3329	0.87271	0.0:0.0:1.0:0.0	.	205;206;205	P55196-5;P55196-6;P55196-2	.;.;.	I	206;206;206;206;206;205;206;207;205;206	ENSP00000341118:M206I;ENSP00000252692:M206I;ENSP00000375956:M206I;ENSP00000355771:M206I;ENSP00000375960:M205I;ENSP00000383623:M205I;ENSP00000404595:M206I	ENSP00000345834:M206I	M	+	3	0	MLLT4	168018903	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.407000	0.97325	2.333000	0.79357	0.460000	0.39030	ATG		0.373	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		44	123	1	0	1.47857e-17	0.00361	2.71962e-17	44	123				
HEATR2	54919	broad.mit.edu	37	7	780463	780463	+	Missense_Mutation	SNP	G	G	T	rs201059622		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr7:780463G>T	ENST00000297440.6	+	3	808	c.788G>T	c.(787-789)cGg>cTg	p.R263L	HEATR2_ENST00000438961.1_3'UTR|HEATR2_ENST00000313147.5_Missense_Mutation_p.R263L	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	263						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CAGGTCCGGCGGGCGGTGGCC	0.637																																							uc010krz.1		NA																	0				skin(1)	1						c.(787-789)CGG>CTG		HEAT repeat containing 2							152.0	157.0	155.0					7																	780463		2203	4300	6503	SO:0001583	missense	54919						protein binding	g.chr7:780463G>T	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.788G>T	7.37:g.780463G>T	ENSP00000297440:p.Arg263Leu					HEATR2_uc003siz.2_Missense_Mutation_p.R131L	p.R263L	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	3	808	+		Ovarian(82;0.0112)	263			HEAT 3.		Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	c.788G>T	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	G	4.890	0.165428	0.09339	.	.	ENSG00000164818	ENST00000297440;ENST00000313147;ENST00000537862	T;T	0.18016	2.24;2.24	4.86	1.14	0.20703	Armadillo-like helical (1);Armadillo-type fold (1);	0.672245	0.13319	N	0.396850	T	0.10594	0.0259	N	0.24115	0.695	0.25621	N	0.986409	B;B	0.12013	0.004;0.005	B;B	0.10450	0.003;0.005	T	0.32851	-0.9891	10	0.29301	T	0.29	-9.0817	8.3952	0.32553	0.7575:0.0:0.2425:0.0	.	263;9	Q86Y56;F5H8D4	HEAT2_HUMAN;.	L	263;263;9	ENSP00000297440:R263L;ENSP00000321451:R263L	ENSP00000297440:R263L	R	+	2	0	HEATR2	746989	0.843000	0.29541	0.950000	0.38849	0.007000	0.05969	2.239000	0.43079	0.009000	0.14813	-0.302000	0.09304	CGG		0.637	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		55	163	1	0	6.52717e-41	0.00361	1.32276e-40	55	163				
HOXA10	3206	broad.mit.edu	37	7	27213842	27213842	+	Silent	SNP	A	A	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr7:27213842A>G	ENST00000283921.4	-	1	83	c.84T>C	c.(82-84)tcT>tcC	p.S28S	HOXA-AS4_ENST00000523790.1_RNA|HOXA-AS4_ENST00000519694.1_RNA|HOXA10_ENST00000396344.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron|HOXA10_ENST00000521421.1_5'Flank|HOXA-AS4_ENST00000519935.1_RNA|RP1-170O19.20_ENST00000470747.4_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	28					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						CGACCAAAAAAGAGTTCGCGG	0.622																																							uc011jzm.1		NA																	0					0						c.(82-84)TCT>TCC		homeobox A10 isoform a							53.0	58.0	56.0					7																	27213842		1115	2583	3698	SO:0001819	synonymous_variant	3206				spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27213842A>G		CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"""Homeoboxes / ANTP class : HOXL subclass"""	5100	protein-coding gene	gene with protein product		142957	"""homeo box A10"""	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436	ENST00000283921.4:c.84T>C	7.37:g.27213842A>G						HOXA10_uc003syw.3_Intron	p.S28S	NM_018951	NP_061824	P31260	HXA10_HUMAN			1	114	-			28					O43370|O43605|Q15949|Q504T1	Silent	SNP	ENST00000283921.4	37	c.84T>C	CCDS5410.2																																																																																				0.622	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358724.2			11	30	0	0	0	0.00499	0	11	30				
GPR141	353345	broad.mit.edu	37	7	37780251	37780252	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr7:37780251_37780252CC>AA	ENST00000447769.1	+	4	545_546	c.256_257CC>AA	c.(256-258)CCc>AAc	p.P86N	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.P86N|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTTGGGCTGCCCTTCTGCAAA	0.485																																							uc003tfm.1		NA																	0				ovary(3)	3						c.(256-258)CCC>AAC		G protein-coupled receptor 141																																				SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780251_37780252CC>AA	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	Exception_encountered	7.37:g.37780251_37780252delinsAA	ENSP00000390410:p.Pro86Asn					uc003tfl.2_Intron	p.P86N	NM_181791	NP_861456	Q7Z602	GP141_HUMAN			1	256_257	+			86			Extracellular (Potential).		A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	DNP	ENST00000447769.1	37	c.256_257CC>AA	CCDS5451.1																																																																																				0.485	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		19	37	0	0	0	0.004672	0	19	37				
FAM183B	340286	broad.mit.edu	37	7	38725631	38725631	+	5'UTR	SNP	G	G	T	rs552819797		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr7:38725631G>T	ENST00000409072.3	-	0	909							Q6ZVS7	F183B_HUMAN	family with sequence similarity 183, member B											endometrium(1)|lung(7)	8						CCGTGGGTCCGGGGCTCTCTC	0.622																																							uc011kbd.1		NA																	0					0						c.(664-666)CCC>CCA		Homo sapiens cDNA FLJ42138 fis, clone TESTI2036684.							37.0	39.0	38.0					7																	38725631		1972	4148	6120	SO:0001623	5_prime_UTR_variant	340286							g.chr7:38725631G>T	AK124132, BC045803		7p14.1	2008-08-11			ENSG00000164556	ENSG00000164556			34511	protein-coding gene	gene with protein product							Standard	NR_028347		Approved	LOC340286	uc011kbd.2	Q6ZVS7	OTTHUMG00000153653	ENST00000409072.3:c.-26C>A	7.37:g.38725631G>T							p.P222P	NR_028347						2	962	-								A4D1Y1	Silent	SNP	ENST00000409072.3	37	c.666C>A																																																																																					0.622	FAM183B-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331972.1	NM_001105282		10	35	1	0	1.08611e-07	0.000978	1.59948e-07	10	35				
AEBP1	165	broad.mit.edu	37	7	44146278	44146278	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr7:44146278G>T	ENST00000223357.3	+	2	692	c.387G>T	c.(385-387)aaG>aaT	p.K129N		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	129	Pro-rich.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGGCCACCAAGAAGCCCAAGG	0.602																																							uc003tkb.2		NA																	0					0						c.(385-387)AAG>AAT		adipocyte enhancer binding protein 1 precursor							100.0	108.0	105.0					7																	44146278		2202	4297	6499	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44146278G>T	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.387G>T	7.37:g.44146278G>T	ENSP00000223357:p.Lys129Asn						p.K129N	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN			2	692	+			129			Pro-rich.		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.387G>T	CCDS5476.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.47|11.47	1.649564|1.649564	0.29336|0.29336	.|.	.|.	ENSG00000106624|ENSG00000106624	ENST00000455443|ENST00000223357;ENST00000449162	.|D	.|0.96232	.|-3.95	4.87|4.87	1.56|1.56	0.23342|0.23342	.|.	.|0.116161	.|0.38111	.|N	.|0.001804	.|D	.|0.92880	.|0.7735	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|P	.|0.48162	.|0.906	.|P	.|0.46585	.|0.521	.|D	.|0.90643	.|0.4576	.|10	.|0.87932	.|D	.|0	-44.6423|-44.6423	9.163|9.163	0.37035|0.37035	0.2886:0.0:0.7114:0.0|0.2886:0.0:0.7114:0.0	.|.	.|129	.|Q8IUX7	.|AEBP1_HUMAN	X|N	87|129;45	.|ENSP00000223357:K129N	.|ENSP00000223357:K129N	E|K	+|+	1|3	0|2	AEBP1|AEBP1	44112803|44112803	0.930000|0.930000	0.31532|0.31532	0.998000|0.998000	0.56505|0.56505	0.446000|0.446000	0.32137|0.32137	0.396000|0.396000	0.20867|0.20867	0.479000|0.479000	0.27511|0.27511	0.462000|0.462000	0.41574|0.41574	GAA|AAG		0.602	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		15	23	1	0	1.3612e-06	0.003163	1.89493e-06	15	23				
ZNF713	349075	broad.mit.edu	37	7	55990971	55990971	+	Silent	SNP	A	A	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr7:55990971A>C	ENST00000429591.2	+	2	203	c.165A>C	c.(163-165)ctA>ctC	p.L55L	ZNF713_ENST00000482436.1_3'UTR|MRPS17_ENST00000426595.1_Silent_p.L55L	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	55	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACAGGAATCTAGTTGCACTGG	0.502																																							uc003trc.1		NA																	0		p.L55I(1)		ovary(2)	2						c.(163-165)CTA>CTC		zinc finger protein 713							126.0	113.0	118.0					7																	55990971		2203	4300	6503	SO:0001819	synonymous_variant	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:55990971A>C	AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"""Zinc fingers, C2H2-type"", ""-"""	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.165A>C	7.37:g.55990971A>C						ZNF713_uc003tra.1_Silent_p.L68L|MRPS17_uc003trb.2_Silent_p.L55L	p.L55L	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		2	203	+	Breast(14;0.214)		55			KRAB.			Silent	SNP	ENST00000429591.2	37	c.165A>C	CCDS34639.1																																																																																				0.502	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		15	74	0	0	0	0.00499	0	15	74				
AUTS2	26053	broad.mit.edu	37	7	69583191	69583191	+	Missense_Mutation	SNP	G	G	A	rs575812317	byFrequency	TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr7:69583191G>A	ENST00000342771.4	+	3	917	c.596G>A	c.(595-597)cGg>cAg	p.R199Q	AUTS2_ENST00000403018.2_Missense_Mutation_p.R199Q|AUTS2_ENST00000406775.2_Missense_Mutation_p.R199Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	199										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGCTTCCACCGGAGCAGCTCT	0.428													G|||	2	0.000399361	0.0015	0.0	5008	,	,		13865	0.0		0.0	False		,,,				2504	0.0						uc003tvw.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(595-597)CGG>CAG		autism susceptibility candidate 2 isoform 1							53.0	54.0	54.0					7																	69583191		2203	4300	6503	SO:0001583	missense	26053							g.chr7:69583191G>A	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.596G>A	7.37:g.69583191G>A	ENSP00000344087:p.Arg199Gln					AUTS2_uc003tvv.3_Missense_Mutation_p.R199Q|AUTS2_uc003tvx.3_Missense_Mutation_p.R199Q	p.R199Q	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	3	1339	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	199					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.596G>A	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059445	0.93846	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000403018	T;T	0.32515	1.45;1.46	5.33	5.33	0.75918	.	0.000000	0.50627	D	0.000109	T	0.45397	0.1340	L	0.29908	0.895	0.37449	D	0.914725	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.99;0.99;0.997	T	0.35871	-0.9771	9	.	.	.	-15.1367	19.215	0.93772	0.0:0.0:1.0:0.0	.	199;199;199	Q8WXX7-2;Q8WXX7;Q6PJU5	.;AUTS2_HUMAN;.	Q	199	ENSP00000385263:R199Q;ENSP00000344087:R199Q	.	R	+	2	0	AUTS2	69221127	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.306000	0.89962	2.777000	0.95525	0.655000	0.94253	CGG		0.428	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			3	30	0	0	0	0.000248	0	3	30				
DBF4	10926	broad.mit.edu	37	7	87533696	87533696	+	Silent	SNP	T	T	C	rs377042232		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr7:87533696T>C	ENST00000265728.1	+	11	1518	c.1014T>C	c.(1012-1014)ttT>ttC	p.F338F		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	338					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TTTTTGACTTTGTGGAATATG	0.363																																							uc003ujf.1		NA																	0				lung(2)	2						c.(1012-1014)TTT>TTC		activator of S phase kinase		T		1,4405	2.1+/-5.4	0,1,2202	88.0	90.0	89.0		1014	5.3	1.0	7		89	0,8600		0,0,4300	no	coding-synonymous	DBF4	NM_006716.3		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		338/675	87533696	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87533696T>C	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1014T>C	7.37:g.87533696T>C						DBF4_uc003ujh.1_Silent_p.F78F|DBF4_uc003ujg.1_Silent_p.F114F|DBF4_uc011khf.1_Silent_p.F105F	p.F338F	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN			11	1518	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	338					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Silent	SNP	ENST00000265728.1	37	c.1014T>C	CCDS5611.1																																																																																				0.363	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		7	23	0	0	0	0.001984	0	7	23				
SLC12A9	56996	broad.mit.edu	37	7	100452363	100452363	+	Silent	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr7:100452363G>T	ENST00000354161.3	+	3	428	c.303G>T	c.(301-303)ggG>ggT	p.G101G	SLC12A9_ENST00000428758.1_Silent_p.G101G|RP11-126L15.4_ENST00000412754.1_RNA|SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000540482.1_Silent_p.G101G|SLC12A9_ENST00000275729.3_Intron	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	101					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCGTGCAGGGGGGCGGAGCCT	0.612																																							uc003uwp.2		NA																	0					0						c.(301-303)GGG>GGT		solute carrier family 12 (potassium/chloride							75.0	65.0	68.0					7																	100452363		2203	4300	6503	SO:0001819	synonymous_variant	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100452363G>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.303G>T	7.37:g.100452363G>T						SLC12A9_uc003uwo.1_Intron|SLC12A9_uc003uwq.2_Intron|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'Flank|SLC12A9_uc003uws.2_5'Flank|SLC12A9_uc003uwt.2_5'Flank	p.G101G	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN			3	445	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		101			Cytoplasmic (Potential).		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	ENST00000354161.3	37	c.303G>T	CCDS5707.1																																																																																				0.612	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		24	41	1	0	6.12954e-19	0.004656	1.14585e-18	24	41				
MUC17	140453	broad.mit.edu	37	7	100679543	100679543	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr7:100679543G>A	ENST00000306151.4	+	3	4910	c.4846G>A	c.(4846-4848)Gct>Act	p.A1616T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1616	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.A1616T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATCTACAACCGCTGAAGGTAG	0.502																																							uc003uxp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(4846-4848)GCT>ACT		mucin 17 precursor							200.0	203.0	202.0					7																	100679543		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679543G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4846G>A	7.37:g.100679543G>A	ENSP00000302716:p.Ala1616Thr					MUC17_uc010lho.1_RNA	p.A1616T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	4899	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1616			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|25.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4846G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	3.466	-0.109007	0.06924	.	.	ENSG00000169876	ENST00000306151	T	0.02085	4.46	0.806	0.806	0.18708	.	.	.	.	.	T	0.00998	0.0033	N	0.14661	0.345	0.09310	N	1	B	0.33171	0.4	B	0.17098	0.017	T	0.39143	-0.9628	9	0.02654	T	1	.	5.0545	0.14525	0.0:0.0:1.0:0.0	.	1616	Q685J3	MUC17_HUMAN	T	1616	ENSP00000302716:A1616T	ENSP00000302716:A1616T	A	+	1	0	MUC17	100466263	0.000000	0.05858	0.005000	0.12908	0.020000	0.10135	-4.472000	0.00228	0.772000	0.33382	0.064000	0.15345	GCT		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		14	255	0	0	0	0.00245	0	14	255				
MYL10	93408	broad.mit.edu	37	7	101266322	101266322	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr7:101266322C>T	ENST00000223167.4	-	4	481	c.304G>A	c.(304-306)Ggc>Agc	p.G102S		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	102	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TCGATGAAGCCATCACGGTTC	0.627																																					Esophageal Squamous(24;575 709 17516 40384 51639)	Esophageal Squamous(24;575 709 17516 40384 51639)	uc003uyr.2		NA																	0				ovary(1)|breast(1)	2						c.(304-306)GGC>AGC		myosin, light chain 10, regulatory							121.0	80.0	94.0					7																	101266322		2203	4300	6503	SO:0001583	missense	93408					mitochondrion	calcium ion binding	g.chr7:101266322C>T	BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"""Myosins / Light chain"", ""EF-hand domain containing"""	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.304G>A	7.37:g.101266322C>T	ENSP00000223167:p.Gly102Ser						p.G102S	NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN			4	482	-			102			EF-hand 1.|1 (Potential).			Missense_Mutation	SNP	ENST00000223167.4	37	c.304G>A	CCDS34713.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758233	0.69763	.	.	ENSG00000106436	ENST00000223167	T	0.80909	-1.43	4.88	3.99	0.46301	EF-hand-like domain (1);	0.000000	0.64402	D	0.000002	D	0.92932	0.7751	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94729	0.7908	10	0.87932	D	0	.	13.5334	0.61635	0.1574:0.8426:0.0:0.0	.	102	Q9BUA6	MYL10_HUMAN	S	102	ENSP00000223167:G102S	ENSP00000223167:G102S	G	-	1	0	MYL10	101053042	1.000000	0.71417	0.725000	0.30721	0.338000	0.28826	7.314000	0.78988	1.160000	0.42584	0.655000	0.94253	GGC		0.627	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403		12	18	0	0	0	0.00245	0	12	18				
LAMB1	3912	broad.mit.edu	37	7	107638920	107638920	+	Missense_Mutation	SNP	G	G	T	rs375197101		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr7:107638920G>T	ENST00000222399.6	-	4	461	c.231C>A	c.(229-231)ttC>ttA	p.F77L	LAMB1_ENST00000393560.1_Missense_Mutation_p.F77L|LAMB1_ENST00000393561.1_Missense_Mutation_p.F101L|U3_ENST00000458938.1_RNA	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	77	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AATTGCATATGAAGCATTTTT	0.363																																							uc003vew.2		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8						c.(229-231)TTC>TTA		laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						119.0	110.0	113.0					7																	107638920		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107638920G>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.231C>A	7.37:g.107638920G>T	ENSP00000222399:p.Phe77Leu					LAMB1_uc003vev.2_Missense_Mutation_p.F101L|LAMB1_uc003vex.2_Missense_Mutation_p.F77L|LAMB1_uc010ljn.1_Missense_Mutation_p.F163L	p.F77L	NM_002291	NP_002282	P07942	LAMB1_HUMAN			4	566	-			77			Laminin N-terminal.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.231C>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605800	0.87157	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560;ENST00000439976;ENST00000393559	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	6.08	5.2	0.72013	Laminin, N-terminal (3);	.	.	.	.	D	0.87079	0.6088	M	0.88450	2.955	0.58432	D	0.999996	D;D;D;P	0.76494	0.999;0.984;0.999;0.798	D;P;D;P	0.79108	0.992;0.761;0.986;0.526	D	0.88826	0.3302	9	0.72032	D	0.01	.	11.3864	0.49787	0.1373:0.0:0.8627:0.0	.	163;77;77;101	C9J296;E7EPA6;P07942;G3XAI2	.;.;LAMB1_HUMAN;.	L	101;77;77;163;77	ENSP00000377191:F101L;ENSP00000222399:F77L;ENSP00000377190:F77L;ENSP00000412686:F163L;ENSP00000377189:F77L	ENSP00000222399:F77L	F	-	3	2	LAMB1	107426156	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.178000	0.58284	1.594000	0.50039	0.655000	0.94253	TTC		0.363	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		8	37	1	0	1.58986e-06	0.008291	2.19325e-06	8	37				
CHRM2	1129	broad.mit.edu	37	7	136699633	136699633	+	Silent	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr7:136699633C>A	ENST00000445907.2	+	3	549	c.21C>A	c.(19-21)tcC>tcA	p.S7S	hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Silent_p.S7S|CHRM2_ENST00000397608.3_Silent_p.S7S|CHRM2_ENST00000402486.3_Silent_p.S7S|CHRM2_ENST00000401861.1_Silent_p.S7S|CHRM2_ENST00000453373.1_Silent_p.S7S|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000593789.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	7					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CAACAAACTCCTCTAACAATA	0.368																																							uc003vtf.1		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(19-21)TCC>TCA		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						92.0	91.0	91.0					7																	136699633		2203	4300	6503	SO:0001819	synonymous_variant	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136699633C>A		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.21C>A	7.37:g.136699633C>A						CHRM2_uc003vtg.1_Silent_p.S7S|CHRM2_uc003vtj.1_Silent_p.S7S|CHRM2_uc003vtk.1_Silent_p.S7S|CHRM2_uc003vtl.1_Silent_p.S7S|CHRM2_uc003vtm.1_Silent_p.S7S|CHRM2_uc003vti.1_Silent_p.S7S|CHRM2_uc003vto.1_Silent_p.S7S|CHRM2_uc003vtn.1_Silent_p.S7S|uc003vtp.1_Intron	p.S7S	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	644	+			7			Extracellular (By similarity).		Q4VBK6|Q9P1X9	Silent	SNP	ENST00000445907.2	37	c.21C>A	CCDS5843.1																																																																																				0.368	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			17	28	1	0	3.32936e-07	0.006122	4.76515e-07	17	28				
SLC35G5	83650	broad.mit.edu	37	8	11189615	11189615	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr8:11189615G>T	ENST00000382435.4	+	1	1219	c.1000G>T	c.(1000-1002)Ggg>Tgg	p.G334W		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	334						integral component of membrane (GO:0016021)											TGAGAGGACAGGGAAGGTGGA	0.502																																							uc003wtp.1		NA																	0					0						c.(1000-1002)GGG>TGG		acyl-malonyl condensing enzyme							56.0	59.0	58.0					8																	11189615		2203	4300	6503	SO:0001583	missense	83650					integral to membrane		g.chr8:11189615G>T	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.1000G>T	8.37:g.11189615G>T	ENSP00000371872:p.Gly334Trp						p.G334W	NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)	1	1121	+			334					A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	c.1000G>T	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	g	10.39	1.337578	0.24253	.	.	ENSG00000177710	ENST00000382435	T	0.40225	1.04	.	.	.	.	0.350088	0.20838	N	0.084754	T	0.35422	0.0931	L	0.50333	1.59	0.30452	N	0.775206	D	0.56287	0.975	P	0.44990	0.466	T	0.39722	-0.9600	8	0.66056	D	0.02	-1.4658	.	.	.	.	334	Q96KT7	S35G5_HUMAN	W	334	ENSP00000371872:G334W	ENSP00000371872:G334W	G	+	1	0	SLC35G5	11227025	0.083000	0.21467	0.279000	0.24732	0.279000	0.26890	1.059000	0.30517	0.064000	0.16427	0.064000	0.15345	GGG		0.502	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		27	43	1	0	2.44723e-14	0.004656	4.26172e-14	27	43				
SNTG1	54212	broad.mit.edu	37	8	51363114	51363114	+	Splice_Site	SNP	A	A	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr8:51363114A>T	ENST00000522124.1	+	7	938		c.e7-1		SNTG1_ENST00000276467.5_Splice_Site|SNTG1_ENST00000517473.1_Splice_Site|SNTG1_ENST00000518864.1_Splice_Site	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1						cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TTTCATTCACAGCGGAACTTT	0.274																																							uc010lxy.1		NA																	0				ovary(5)	5						c.e8-2		syntrophin, gamma 1							156.0	147.0	150.0					8																	51363114		2203	4300	6503	SO:0001630	splice_region_variant	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51363114A>T	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.278-1A>T	8.37:g.51363114A>T						SNTG1_uc003xqs.1_Splice_Site_p.A93_splice|SNTG1_uc010lxz.1_Splice_Site_p.A93_splice|SNTG1_uc011ldl.1_Splice_Site	p.A93_splice	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			8	649	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)						Q2M3Q0|Q9NY98	Splice_Site	SNP	ENST00000522124.1	37	c.278_splice	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.072827	0.36566	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2281	0.59927	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNTG1	51525667	1.000000	0.71417	0.904000	0.35570	0.300000	0.27592	6.060000	0.71141	2.003000	0.58678	0.528000	0.53228	.		0.274	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1		Intron	45	39	0	0	0	0.00361	0	45	39				
XKR9	389668	broad.mit.edu	37	8	71646419	71646419	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr8:71646419G>T	ENST00000408926.3	+	5	1416	c.882G>T	c.(880-882)agG>agT	p.R294S	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.R294S	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	294						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			ATATTGTTAGGGTACTGGGCA	0.323																																							uc003xyq.2		NA																	0				ovary(1)|skin(1)	2						c.(880-882)AGG>AGT		XK, Kell blood group complex subunit-related							93.0	91.0	91.0					8																	71646419		2203	4299	6502	SO:0001583	missense	389668					integral to membrane		g.chr8:71646419G>T	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.882G>T	8.37:g.71646419G>T	ENSP00000386141:p.Arg294Ser					XKR9_uc010lze.2_Missense_Mutation_p.R294S|XKR9_uc010lzd.2_Missense_Mutation_p.R162S	p.R294S	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		5	1416	+	Breast(64;0.0716)		294					B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.882G>T	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	G	3.537	-0.094602	0.07053	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.64085	-0.08;-0.08	4.98	-3.23	0.05109	.	0.209022	0.31734	N	0.007147	T	0.48537	0.1505	L	0.48877	1.53	0.09310	N	1	B	0.30763	0.294	B	0.33890	0.172	T	0.41574	-0.9501	10	0.22109	T	0.4	-5.7715	10.558	0.45129	0.6517:0.1088:0.2395:0.0	.	294	Q5GH70	XKR9_HUMAN	S	294	ENSP00000386141:R294S;ENSP00000431088:R294S	ENSP00000386141:R294S	R	+	3	2	XKR9	71808973	0.261000	0.24063	0.004000	0.12327	0.081000	0.17604	-0.277000	0.08502	-1.034000	0.03295	-0.259000	0.10710	AGG		0.323	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		9	43	1	0	0.000442599	0.006214	0.000561525	9	43				
TRPA1	8989	broad.mit.edu	37	8	72984028	72984028	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr8:72984028C>A	ENST00000262209.4	-	2	393	c.186G>T	c.(184-186)atG>atT	p.M62I		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	62					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AGAAGGTGTCCATATCGTCAC	0.348																																							uc003xza.2		NA																	0				ovary(4)|lung(1)|kidney(1)	6						c.(184-186)ATG>ATT		ankyrin-like protein 1	Menthol(DB00825)						149.0	132.0	138.0					8																	72984028		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72984028C>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.186G>T	8.37:g.72984028C>A	ENSP00000262209:p.Met62Ile						p.M62I	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		2	361	-			62			Cytoplasmic (Potential).|ANK 1.		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.186G>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	4.409	0.075582	0.08485	.	.	ENSG00000104321	ENST00000262209	T	0.37584	1.19	5.08	-0.603	0.11630	Ankyrin repeat-containing domain (1);	2.512610	0.01161	N	0.006651	T	0.26195	0.0639	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.06972	-1.0797	10	0.33141	T	0.24	2.7833	2.5247	0.04689	0.1293:0.2356:0.1275:0.5076	.	62	O75762	TRPA1_HUMAN	I	62	ENSP00000262209:M62I	ENSP00000262209:M62I	M	-	3	0	TRPA1	73146582	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.043000	0.12043	-0.488000	0.06726	-0.253000	0.11424	ATG		0.348	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		40	36	1	0	9.8876e-21	0.004878	1.90274e-20	40	36				
ZFHX4	79776	broad.mit.edu	37	8	77764905	77764905	+	Silent	SNP	T	T	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr8:77764905T>C	ENST00000521891.2	+	10	6196	c.5748T>C	c.(5746-5748)ttT>ttC	p.F1916F	ZFHX4_ENST00000455469.2_Silent_p.F1871F|ZFHX4_ENST00000050961.6_Silent_p.F1871F|ZFHX4_ENST00000518282.1_Silent_p.F1890F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1871					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGAAAACTTTGGTTTTGAAC	0.443										HNSCC(33;0.089)																													uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(5611-5613)TTT>TTC		zinc finger homeodomain 4							34.0	31.0	32.0					8																	77764905		1903	4121	6024	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764905T>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5748T>C	8.37:g.77764905T>C		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.F1916F|ZFHX4_uc003yaw.1_Silent_p.F1871F	p.F1871F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	6000	+			1871					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.5613T>C	CCDS47878.2																																																																																				0.443	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		14	41	0	0	0	0.001855	0	14	41				
MMP16	4325	broad.mit.edu	37	8	89198727	89198727	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr8:89198727G>T	ENST00000286614.6	-	3	663	c.382C>A	c.(382-384)Cag>Aag	p.Q128K	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	128					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TGCTTGTGCTGCCATTTCTGT	0.418																																							uc003yeb.3		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(382-384)CAG>AAG		matrix metalloproteinase 16 isoform 1							277.0	235.0	249.0					8																	89198727		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89198727G>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.382C>A	8.37:g.89198727G>T	ENSP00000286614:p.Gln128Lys					MMP16_uc003yec.2_Missense_Mutation_p.Q128K	p.Q128K	NM_005941	NP_005932	P51512	MMP16_HUMAN			3	664	-			128			Extracellular (Potential).		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.382C>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738237	0.69304	.	.	ENSG00000156103	ENST00000286614;ENST00000522726	T;T	0.47177	0.85;2.7	5.72	5.72	0.89469	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.164071	0.56097	D	0.000035	T	0.31918	0.0812	N	0.11818	0.18	0.80722	D	1	B;B	0.14438	0.01;0.001	B;B	0.10450	0.005;0.004	T	0.17501	-1.0367	10	0.09843	T	0.71	.	19.8778	0.96885	0.0:0.0:1.0:0.0	.	128;128	P51512-2;P51512	.;MMP16_HUMAN	K	128;145	ENSP00000286614:Q128K;ENSP00000429147:Q145K	ENSP00000286614:Q128K	Q	-	1	0	MMP16	89267843	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.710000	0.92621	0.585000	0.79938	CAG		0.418	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		39	200	1	0	4.92203e-23	0.00623	9.55207e-23	39	200				
VPS13B	157680	broad.mit.edu	37	8	100866131	100866131	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr8:100866131G>T	ENST00000358544.2	+	56	10700	c.10589G>T	c.(10588-10590)cGg>cTg	p.R3530L	VPS13B_ENST00000357162.2_Missense_Mutation_p.R3505L|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3530					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAACCTGCTCGGTTATACGTG	0.408																																					Colon(161;2205 2542 7338 31318)	Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	0		p.R3530W(1)		ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(10588-10590)CGG>CTG		vacuolar protein sorting 13B isoform 5							115.0	118.0	117.0					8																	100866131		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100866131G>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10589G>T	8.37:g.100866131G>T	ENSP00000351346:p.Arg3530Leu					VPS13B_uc003yiw.2_Missense_Mutation_p.R3505L	p.R3530L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		56	10700	+	Breast(36;3.73e-07)		3530					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.10589G>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146670	0.94603	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.70631	-0.5;-0.5	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.80768	0.4686	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	0.977;1.0	P;D	0.81914	0.691;0.995	T	0.80908	-0.1172	10	0.59425	D	0.04	.	19.7731	0.96379	0.0:0.0:1.0:0.0	.	3505;3530	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	L	3505;3530	ENSP00000349685:R3505L;ENSP00000351346:R3530L	ENSP00000349685:R3505L	R	+	2	0	VPS13B	100935307	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	8.755000	0.91646	2.665000	0.90641	0.650000	0.86243	CGG		0.408	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		32	115	1	0	2.85442e-18	0.002096	5.31432e-18	32	115				
UBR5	51366	broad.mit.edu	37	8	103309166	103309166	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr8:103309166C>A	ENST00000520539.1	-	28	4226	c.3620G>T	c.(3619-3621)tGt>tTt	p.C1207F	UBR5_ENST00000220959.4_Missense_Mutation_p.C1207F|UBR5_ENST00000521922.1_Missense_Mutation_p.C1201F	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1207					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTCCGTACAACAACACAGTGA	0.313																																					Ovarian(131;96 1741 5634 7352 27489)	Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(3619-3621)TGT>TTT		ubiquitin protein ligase E3 component n-recognin							66.0	65.0	66.0					8																	103309166		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103309166C>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.3620G>T	8.37:g.103309166C>A	ENSP00000429084:p.Cys1207Phe					UBR5_uc003yks.1_Missense_Mutation_p.C1207F	p.C1207F	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		28	3653	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1207			UBR-type.		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.3620G>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892248	0.91889	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	D;D;D	0.81996	-1.56;-1.56;-1.56	5.66	5.66	0.87406	Zinc finger, N-recognin, metazoa (1);Zinc finger, N-recognin (2);	0.099912	0.64402	D	0.000001	D	0.91385	0.7282	M	0.76002	2.32	0.80722	D	1	D;D	0.62365	0.991;0.991	D;D	0.79784	0.993;0.993	D	0.91475	0.5200	10	0.87932	D	0	.	20.1225	0.97967	0.0:1.0:0.0:0.0	.	1201;1207	E7EMW7;O95071	.;UBR5_HUMAN	F	1207;1207;1201	ENSP00000429084:C1207F;ENSP00000220959:C1207F;ENSP00000427819:C1201F	ENSP00000220959:C1207F	C	-	2	0	UBR5	103378342	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.587000	0.82613	2.831000	0.97527	0.650000	0.86243	TGT		0.313	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		23	16	1	0	1.7881e-09	0.008361	2.76672e-09	23	16				
CSMD3	114788	broad.mit.edu	37	8	113697849	113697849	+	Silent	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr8:113697849C>A	ENST00000297405.5	-	15	2512	c.2268G>T	c.(2266-2268)ggG>ggT	p.G756G	CSMD3_ENST00000343508.3_Silent_p.G716G|CSMD3_ENST00000352409.3_Silent_p.G756G|CSMD3_ENST00000455883.2_Silent_p.G652G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	756	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTATCCGGCTCCCTGGATCAG	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(2266-2268)GGG>GGT		CUB and Sushi multiple domains 3 isoform 1							100.0	107.0	105.0					8																	113697849		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113697849C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2268G>T	8.37:g.113697849C>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.G28G|CSMD3_uc003ynt.2_Silent_p.G716G|CSMD3_uc011lhx.1_Silent_p.G652G	p.G756G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			15	2427	-			756			Extracellular (Potential).|CUB 4.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.2268G>T	CCDS6315.1																																																																																				0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		73	48	1	0	2.10938e-32	0.00361	4.20042e-32	73	48				
TRPS1	7227	broad.mit.edu	37	8	116631944	116631944	+	Silent	SNP	T	T	C	rs374433977		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr8:116631944T>C	ENST00000220888.5	-	2	501	c.342A>G	c.(340-342)tcA>tcG	p.S114S	TRPS1_ENST00000519674.1_Silent_p.S114S|TRPS1_ENST00000395715.3_Silent_p.S127S|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Silent_p.S118S			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	114					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CAGCTGGAGATGAGAAAGCCA	0.532									Langer-Giedion syndrome																														uc003ynz.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(340-342)TCA>TCG		zinc finger transcription factor TRPS1							63.0	63.0	63.0					8																	116631944		1924	4137	6061	SO:0001819	synonymous_variant	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116631944T>C	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.342A>G	8.37:g.116631944T>C						TRPS1_uc011lhy.1_Silent_p.S118S|TRPS1_uc003yny.2_Silent_p.S127S|TRPS1_uc010mcy.2_Silent_p.S114S	p.S114S	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		2	801	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		114					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Silent	SNP	ENST00000220888.5	37	c.342A>G																																																																																					0.532	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		17	84	0	0	0	0.00499	0	17	84				
SLC30A8	169026	broad.mit.edu	37	8	118165318	118165318	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr8:118165318G>T	ENST00000456015.2	+	3	407	c.407G>T	c.(406-408)tGg>tTg	p.W136L	SLC30A8_ENST00000521243.1_Missense_Mutation_p.W87L|SLC30A8_ENST00000427715.2_Missense_Mutation_p.W87L|SLC30A8_ENST00000519688.1_Missense_Mutation_p.W87L	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	136					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ACATTTGGATGGCACCGAGCA	0.512																																					Ovarian(162;1202 1922 6011 16223 52092)	Ovarian(162;1202 1922 6011 16223 52092)	uc003yoh.2		NA																	0				ovary(2)|skin(2)	4						c.(406-408)TGG>TTG		solute carrier family 30 member 8							102.0	75.0	84.0					8																	118165318		2203	4300	6503	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118165318G>T		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.407G>T	8.37:g.118165318G>T	ENSP00000415011:p.Trp136Leu					SLC30A8_uc010mcz.2_Missense_Mutation_p.W87L|SLC30A8_uc011lia.1_Missense_Mutation_p.W87L|SLC30A8_uc003yog.2_Missense_Mutation_p.W87L	p.W136L	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		3	637	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		136			Cytoplasmic (Potential).		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.407G>T	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	G	36	5.643864	0.96704	.	.	ENSG00000164756	ENST00000521243;ENST00000524274;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16	5.37	5.37	0.77165	.	0.117065	0.64402	D	0.000007	T	0.64538	0.2607	L	0.36672	1.1	0.80722	D	1	P	0.51449	0.945	P	0.55999	0.789	T	0.66712	-0.5854	10	0.87932	D	0	-6.7191	18.2816	0.90099	0.0:0.0:1.0:0.0	.	136	Q8IWU4	ZNT8_HUMAN	L	87;87;87;87;136	ENSP00000428545:W87L;ENSP00000427760:W87L;ENSP00000407505:W87L;ENSP00000431069:W87L;ENSP00000415011:W136L	ENSP00000407505:W87L	W	+	2	0	SLC30A8	118234499	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.631000	0.98424	2.804000	0.96469	0.655000	0.94253	TGG		0.512	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		4	34	1	0	2.56e-06	0.000248	3.47917e-06	4	34				
FER1L6	654463	broad.mit.edu	37	8	125115475	125115475	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr8:125115475G>C	ENST00000522917.1	+	39	5420	c.5214G>C	c.(5212-5214)gaG>gaC	p.E1738D	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E1738D	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1738						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATGCAAGTGAGGAGACCAAGA	0.473																																							uc003yqw.2		NA																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(5212-5214)GAG>GAC		fer-1-like 6							169.0	166.0	167.0					8																	125115475		1921	4127	6048	SO:0001583	missense	654463					integral to membrane		g.chr8:125115475G>C	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5214G>C	8.37:g.125115475G>C	ENSP00000428280:p.Glu1738Asp					uc003yqy.1_Intron	p.E1738D	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		39	5420	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1738			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.5214G>C	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	7.914	0.737079	0.15574	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.81739	-1.53;-1.53	5.58	2.77	0.32553	C2 calcium/lipid-binding domain, CaLB (1);	0.462565	0.20042	U	0.100487	T	0.60314	0.2259	N	0.17248	0.465	0.41232	D	0.986586	B	0.11235	0.004	B	0.10450	0.005	T	0.45571	-0.9252	10	0.14656	T	0.56	-24.86	5.0673	0.14589	0.2931:0.0:0.5647:0.1422	.	1738	Q2WGJ9	FR1L6_HUMAN	D	1738	ENSP00000428280:E1738D;ENSP00000381982:E1738D	ENSP00000381982:E1738D	E	+	3	2	FER1L6	125184656	0.999000	0.42202	0.973000	0.42090	0.597000	0.36814	0.524000	0.22940	0.806000	0.34183	0.655000	0.94253	GAG		0.473	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		133	110	0	0	0	0.00361	0	133	110				
ADCY8	114	broad.mit.edu	37	8	131922105	131922105	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr8:131922105G>C	ENST00000286355.5	-	6	3581	c.1489C>G	c.(1489-1491)Cgg>Ggg	p.R497G	ADCY8_ENST00000377928.3_Missense_Mutation_p.R497G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	497					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTCCTTGACCGCACATACCTG	0.448										HNSCC(32;0.087)																													uc003ytd.3		NA																	0				skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1489-1491)CGG>GGG		adenylate cyclase 8							157.0	121.0	133.0					8																	131922105		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131922105G>C	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1489C>G	8.37:g.131922105G>C	ENSP00000286355:p.Arg497Gly	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.R497G	p.R497G	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		6	1745	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		497			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.1489C>G	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990167	0.74589	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	D;D;D	0.85013	-1.93;-1.93;-1.93	5.8	-0.0962	0.13637	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.92903	0.7742	M	0.89601	3.045	0.37428	D	0.913899	D;D	0.89917	0.996;1.0	D;D	0.91635	0.985;0.999	D	0.94640	0.7829	10	0.72032	D	0.01	.	16.3402	0.83080	0.0:0.0:0.3302:0.6698	.	497;497	E7EVL1;P40145	.;ADCY8_HUMAN	G	497;497;112	ENSP00000286355:R497G;ENSP00000367161:R497G;ENSP00000428010:R112G	ENSP00000286355:R497G	R	-	1	2	ADCY8	131991287	0.978000	0.34361	0.996000	0.52242	0.987000	0.75469	0.963000	0.29293	0.038000	0.15604	-0.310000	0.09108	CGG		0.448	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			65	40	0	0	0	0.00361	0	65	40				
TRAPPC9	83696	broad.mit.edu	37	8	140743352	140743352	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr8:140743352C>G	ENST00000438773.2	-	23	3532	c.3399G>C	c.(3397-3399)tgG>tgC	p.W1133C	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.W1231C|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.W1124C|TRAPPC9_ENST00000522504.1_5'UTR	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	1133					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GCAGGCAGAACCAAGAGGGTG	0.657																																							uc003yvj.2		NA																	0				skin(2)	2						c.(3397-3399)TGG>TGC		trafficking protein particle complex 9 isoform							89.0	76.0	81.0					8																	140743352		2203	4300	6503	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:140743352C>G	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.3399G>C	8.37:g.140743352C>G	ENSP00000405060:p.Trp1133Cys					TRAPPC9_uc003yvh.2_Missense_Mutation_p.W1231C	p.W1133C	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN			23	3533	-			1133					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.3399G>C	CCDS55278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.02|18.02	3.530454|3.530454	0.64860|0.64860	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000520857|ENST00000389328;ENST00000389327;ENST00000438773	.|.	.|.	.|.	4.93|4.93	4.04|4.04	0.47022|0.47022	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.61999|0.61999	0.2392|0.2392	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|D;B	.|0.89917	.|1.0;0.125	.|D;B	.|0.85130	.|0.997;0.037	T|T	0.66200|0.66200	-0.5983|-0.5983	5|9	.|0.66056	.|D	.|0.02	.|.	13.568|13.568	0.61830|0.61830	0.1567:0.8432:0.0:0.0|0.1567:0.8432:0.0:0.0	.|.	.|1133;1231	.|Q96Q05;Q96Q05-2	.|TPPC9_HUMAN;.	L|C	977|1231;1124;1133	.|.	.|ENSP00000373978:W1124C	V|W	-|-	1|3	0|0	TRAPPC9|TRAPPC9	140812534|140812534	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.861000|0.861000	0.49209|0.49209	6.934000|6.934000	0.75880|0.75880	1.035000|1.035000	0.39972|0.39972	0.655000|0.655000	0.94253|0.94253	GTT|TGG		0.657	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		12	48	0	0	0	0.001855	0	12	48				
GSDMD	79792	broad.mit.edu	37	8	144642896	144642896	+	Silent	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr8:144642896G>A	ENST00000526406.1	+	7	1417	c.534G>A	c.(532-534)cgG>cgA	p.R178R	GSDMD_ENST00000262580.4_Silent_p.R178R|GSDMD_ENST00000533063.1_Silent_p.R226R	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	178					cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						CCCACAAGCGGGAGGGCTCGG	0.697																																							uc010mfe.2		NA																	0					0						c.(532-534)CGG>CGA		gasdermin D							24.0	19.0	21.0					8																	144642896		2169	4267	6436	SO:0001819	synonymous_variant	79792							g.chr8:144642896G>A	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.534G>A	8.37:g.144642896G>A						uc003yye.2_5'Flank|GSDMD_uc003yyf.2_Silent_p.R226R|GSDMD_uc003yyi.2_Silent_p.R389R|GSDMD_uc003yyg.2_Silent_p.R178R|GSDMD_uc003yyh.2_Silent_p.R109R	p.R178R	NM_024736	NP_079012	P57764	GSDMD_HUMAN			7	1237	+			178					D3DWJ9|Q96Q98	Silent	SNP	ENST00000526406.1	37	c.534G>A	CCDS34956.1																																																																																				0.697	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		3	13	0	0	0	0.004672	0	3	13				
EPPK1	83481	broad.mit.edu	37	8	144940342	144940342	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr8:144940342G>C	ENST00000525985.1	-	2	7151	c.7080C>G	c.(7078-7080)gaC>gaG	p.D2360E				P58107	EPIPL_HUMAN	epiplakin 1	2360						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTAGGCCACGTCCACGGGCA	0.692																																							uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(15088-15090)GAC>GAG		epiplakin 1							198.0	194.0	195.0					8																	144940342		2174	4250	6424	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940342G>C	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7080C>G	8.37:g.144940342G>C	ENSP00000436337:p.Asp2360Glu						p.D5030E	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	15103	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		5030			Plectin 64.		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.15090C>G		.	.	.	.	.	.	.	.	.	.	G	3.446	-0.113045	0.06881	.	.	ENSG00000227184	ENST00000525985	T	0.71222	-0.55	4.39	-3.01	0.05463	.	.	.	.	.	T	0.40839	0.1133	N	0.03000	-0.44	0.24198	N	0.995525	B	0.22276	0.067	B	0.29176	0.099	T	0.40040	-0.9584	9	0.05833	T	0.94	.	11.3729	0.49711	0.1531:0.6163:0.2306:0.0	.	2360	E9PPU0	.	E	2360	ENSP00000436337:D2360E	ENSP00000436337:D2360E	D	-	3	2	EPPK1	145012330	0.308000	0.24509	0.843000	0.33291	0.907000	0.53573	-0.288000	0.08377	-0.641000	0.05487	-1.372000	0.01188	GAC		0.692	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		11	599	0	0	0	0.006122	0	11	599				
FRMPD1	22844	broad.mit.edu	37	9	37746517	37746517	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr9:37746517C>G	ENST00000539465.1	+	16	5081	c.4488C>G	c.(4486-4488)caC>caG	p.H1496Q	FRMPD1_ENST00000377765.3_Missense_Mutation_p.H1496Q|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1496						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCTTCCAGCACCTGGTCCAGC	0.637																																							uc004aag.1		NA																	0				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(4486-4488)CAC>CAG		FERM and PDZ domain containing 1							34.0	36.0	35.0					9																	37746517		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37746517C>G	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.4488C>G	9.37:g.37746517C>G	ENSP00000444411:p.His1496Gln					FRMPD1_uc004aah.1_Missense_Mutation_p.H1496Q	p.H1496Q	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	4532	+			1496					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.4488C>G	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627403	0.46944	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.06687	3.27;3.27	5.53	5.53	0.82687	.	0.416583	0.29034	N	0.013344	T	0.06325	0.0163	L	0.29908	0.895	0.80722	D	1	P	0.38335	0.627	B	0.31614	0.133	T	0.26258	-1.0108	10	0.52906	T	0.07	-9.8545	10.4021	0.44235	0.0:0.9114:0.0:0.0886	.	1496	Q5SYB0	FRPD1_HUMAN	Q	1496	ENSP00000366995:H1496Q;ENSP00000444411:H1496Q	ENSP00000366995:H1496Q	H	+	3	2	FRMPD1	37736517	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.180000	0.32005	2.602000	0.87976	0.655000	0.94253	CAC		0.637	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		12	32	0	0	0	0.001368	0	12	32				
OR13C9	286362	broad.mit.edu	37	9	107379838	107379838	+	Silent	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr9:107379838G>T	ENST00000259362.1	-	1	647	c.648C>A	c.(646-648)atC>atA	p.I216I		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						ATGAGTAAGAGATAACTATCA	0.453																																							uc011lvr.1		NA																	0					0						c.(646-648)ATC>ATA		olfactory receptor, family 13, subfamily C,							89.0	81.0	83.0					9																	107379838		2202	4300	6502	SO:0001819	synonymous_variant	286362				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107379838G>T		CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"""GPCR / Class A : Olfactory receptors"""	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.648C>A	9.37:g.107379838G>T							p.I216I	NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN			1	648	-			216			Helical; Name=5; (Potential).		Q6IFL2	Silent	SNP	ENST00000259362.1	37	c.648C>A	CCDS35093.1																																																																																				0.453	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1			6	31	1	0	5.9392e-07	0.001168	8.44768e-07	6	31				
IKBKAP	8518	broad.mit.edu	37	9	111659270	111659270	+	Silent	SNP	T	T	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr9:111659270T>C	ENST00000374647.5	-	24	2857	c.2550A>G	c.(2548-2550)gaA>gaG	p.E850E	IKBKAP_ENST00000537196.1_Silent_p.E501E	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	850					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CAATTTCCAGTTCTGGGGTTG	0.443																																							uc004bdm.3		NA																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						c.(2548-2550)GAA>GAG		inhibitor of kappa light polypeptide gene							145.0	137.0	140.0					9																	111659270		2203	4300	6503	SO:0001819	synonymous_variant	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111659270T>C	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.2550A>G	9.37:g.111659270T>C						IKBKAP_uc004bdl.2_Silent_p.E501E|IKBKAP_uc011lwc.1_Silent_p.E736E|IKBKAP_uc010mtq.2_Silent_p.E501E	p.E850E	NM_003640	NP_003631	O95163	ELP1_HUMAN			24	3070	-			850					Q5JSV2|Q9H327|Q9UG87	Silent	SNP	ENST00000374647.5	37	c.2550A>G	CCDS6773.1																																																																																				0.443	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			17	34	0	0	0	0.008871	0	17	34				
ARSH	347527	broad.mit.edu	37	X	2936618	2936618	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chrX:2936618G>A	ENST00000381130.2	+	5	808	c.808G>A	c.(808-810)Gta>Ata	p.V270I		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	270					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTTCCTGCACGTACATACTCC	0.398																																							uc011mhj.1		NA																	0				lung(1)	1						c.(808-810)GTA>ATA		arylsulfatase family, member H							130.0	119.0	122.0					X																	2936618		2203	4300	6503	SO:0001583	missense	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2936618G>A	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.808G>A	X.37:g.2936618G>A	ENSP00000370522:p.Val270Ile						p.V270I	NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN			5	808	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	270						Missense_Mutation	SNP	ENST00000381130.2	37	c.808G>A	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570571	0.28003	.	.	ENSG00000205667	ENST00000381130	D	0.94046	-3.34	3.87	3.87	0.44632	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.203931	0.42682	D	0.000675	D	0.93575	0.7949	M	0.72894	2.215	0.20764	N	0.999856	P	0.47106	0.89	P	0.50405	0.64	D	0.87321	0.2318	10	0.36615	T	0.2	.	11.4912	0.50381	0.0:0.0:0.8199:0.1801	.	270	Q5FYA8	ARSH_HUMAN	I	270	ENSP00000370522:V270I	ENSP00000370522:V270I	V	+	1	0	ARSH	2946618	0.278000	0.24230	0.016000	0.15963	0.007000	0.05969	1.448000	0.35112	1.568000	0.49683	0.594000	0.82650	GTA		0.398	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		29	41	0	0	0	0.001786	0	29	41				
KAL1	3730	broad.mit.edu	37	X	8507735	8507735	+	Silent	SNP	G	G	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chrX:8507735G>A	ENST00000262648.3	-	10	1568	c.1419C>T	c.(1417-1419)acC>acT	p.T473T	KAL1_ENST00000481896.1_5'Flank	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	473	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CCTCTGATCCGGTTGTTCTGT	0.453																																							uc004csf.2		NA																	0				ovary(3)|pancreas(1)	4						c.(1417-1419)ACC>ACT		Kallmann syndrome 1 protein precursor							153.0	110.0	125.0					X																	8507735		2203	4300	6503	SO:0001819	synonymous_variant	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8507735G>A		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1419C>T	X.37:g.8507735G>A							p.T473T	NM_000216	NP_000207	P23352	KALM_HUMAN			10	1569	-			473			Fibronectin type-III 3.		B2RPF8	Silent	SNP	ENST00000262648.3	37	c.1419C>T	CCDS14130.1																																																																																				0.453	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		6	56	0	0	0	0.001168	0	6	56				
PRPS2	5634	broad.mit.edu	37	X	12838875	12838875	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chrX:12838875A>G	ENST00000380668.5	+	6	945	c.817A>G	c.(817-819)Aac>Gac	p.N273D	PRPS2_ENST00000398491.2_Missense_Mutation_p.N276D	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	273					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TGTCGTCACAAACACAATTCC	0.468																																							uc004cvb.2		NA																	0					0						c.(817-819)AAC>GAC		phosphoribosyl pyrophosphate synthetase 2							107.0	86.0	93.0					X																	12838875		2203	4300	6503	SO:0001583	missense	5634				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:12838875A>G	Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.817A>G	X.37:g.12838875A>G	ENSP00000370043:p.Asn273Asp					PRPS2_uc004cva.2_Missense_Mutation_p.N276D|PRPS2_uc010nec.2_Missense_Mutation_p.N151D	p.N273D	NM_002765	NP_002756	P11908	PRPS2_HUMAN			6	941	+			273					Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	ENST00000380668.5	37	c.817A>G	CCDS14150.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.511187	0.64522	.	.	ENSG00000101911	ENST00000380668;ENST00000398491;ENST00000461630;ENST00000460220	T;T;T	0.77877	-1.13;-1.13;-1.13	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.73024	0.3534	L	0.35414	1.06	0.80722	D	1	P;P	0.41784	0.65;0.762	B;P	0.48304	0.369;0.573	T	0.68164	-0.5481	10	0.12766	T	0.61	-31.2466	13.9466	0.64089	1.0:0.0:0.0:0.0	.	273;276	P11908;P11908-2	PRPS2_HUMAN;.	D	273;276;128;105	ENSP00000370043:N273D;ENSP00000381504:N276D;ENSP00000418911:N128D	ENSP00000370043:N273D	N	+	1	0	PRPS2	12748796	1.000000	0.71417	0.706000	0.30403	0.992000	0.81027	8.772000	0.91757	1.738000	0.51689	0.381000	0.24937	AAC		0.468	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765		29	41	0	0	0	0.008361	0	29	41				
ARX	170302	broad.mit.edu	37	X	25031161	25031161	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chrX:25031161G>T	ENST00000379044.4	-	2	1161	c.951C>A	c.(949-951)agC>agA	p.S317R		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	317					axon guidance (GO:0007411)|cell proliferation in forebrain (GO:0021846)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex tangential migration (GO:0021800)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|epithelial cell fate commitment (GO:0072148)|globus pallidus development (GO:0021759)|lipid digestion (GO:0044241)|positive regulation of organ growth (GO:0046622)|regulation of cell proliferation (GO:0042127)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			kidney(1)|large_intestine(2)|lung(1)	4						CCTCCGAGTCGCTGCCCGCAG	0.662																																							uc004dbp.3		NA																	0					0						c.(949-951)AGC>AGA		aristaless related homeobox							26.0	17.0	20.0					X																	25031161		2202	4297	6499	SO:0001583	missense	170302					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:25031161G>T	AY038071	CCDS14215.1	Xp21.3	2011-06-20			ENSG00000004848	ENSG00000004848		"""Homeoboxes / PRD class"""	18060	protein-coding gene	gene with protein product	"""cancer/testis antigen 121"""	300382	"""mental retardation, X-linked 54"", ""mental retardation, X-linked 43"", ""mental retardation, X-linked 36"", ""mental retardation, X-linked 29"", ""mental retardation, X-linked 32"", ""mental retardation, X-linked 33"", ""mental retardation, X-linked 38"", ""mental retardation, X-linked 87"", ""mental retardation, X-linked 76"""	MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87		11889467, 15850492, 17480217	Standard	NM_139058		Approved	ISSX, CT121, EIEE1	uc004dbp.4	Q96QS3	OTTHUMG00000021275	ENST00000379044.4:c.951C>A	X.37:g.25031161G>T	ENSP00000368332:p.Ser317Arg						p.S317R	NM_139058	NP_620689	Q96QS3	ARX_HUMAN			2	1162	-			317						Missense_Mutation	SNP	ENST00000379044.4	37	c.951C>A	CCDS14215.1	.	.	.	.	.	.	.	.	.	.	g	12.35	1.910197	0.33721	.	.	ENSG00000004848	ENST00000379044	D	0.91792	-2.91	3.87	3.87	0.44632	Homeodomain-related (1);	0.100855	0.64402	D	0.000003	D	0.86087	0.5849	N	0.24115	0.695	0.51482	D	0.999923	P	0.34724	0.465	B	0.33042	0.157	D	0.86505	0.1806	10	0.56958	D	0.05	.	14.9811	0.71311	0.0:0.0:1.0:0.0	.	317	Q96QS3	ARX_HUMAN	R	317	ENSP00000368332:S317R	ENSP00000368332:S317R	S	-	3	2	ARX	24941082	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	3.830000	0.55768	1.521000	0.48983	0.151000	0.16131	AGC		0.662	ARX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056109.1			7	11	1	0	0.000157383	0.00308	0.000203047	7	11				
MAGEB10	139422	broad.mit.edu	37	X	27840205	27840205	+	Missense_Mutation	SNP	A	A	T	rs370247885		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chrX:27840205A>T	ENST00000356790.2	+	3	1027	c.782A>T	c.(781-783)cAg>cTg	p.Q261L		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	261	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CTGGAGTACCAGCAAGTGCCC	0.473																																							uc004dbw.2		NA																	0				lung(1)|breast(1)|central_nervous_system(1)	3						c.(781-783)CAG>CTG		melanoma antigen family B, 10							64.0	61.0	62.0					X																	27840205		2202	4300	6502	SO:0001583	missense	139422							g.chrX:27840205A>T		CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.782A>T	X.37:g.27840205A>T	ENSP00000368304:p.Gln261Leu						p.Q261L	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN			3	1009	+			261			MAGE.		Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	ENST00000356790.2	37	c.782A>T	CCDS35221.1	.	.	.	.	.	.	.	.	.	.	A	16.98	3.272346	0.59649	.	.	ENSG00000177689	ENST00000356790	T	0.04917	3.53	2.33	-0.578	0.11724	.	2.407270	0.03560	U	0.226858	T	0.14700	0.0355	L	0.49126	1.545	0.09310	N	1	P	0.51933	0.949	P	0.57960	0.83	T	0.16660	-1.0395	10	0.72032	D	0.01	.	4.7334	0.12975	0.5655:0.0:0.4345:0.0	.	261	Q96LZ2	MAGBA_HUMAN	L	261	ENSP00000368304:Q261L	ENSP00000368304:Q261L	Q	+	2	0	MAGEB10	27750126	0.000000	0.05858	0.001000	0.08648	0.831000	0.47069	-0.494000	0.06451	-0.224000	0.09928	0.345000	0.21793	CAG		0.473	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1	NM_182506		6	47	0	0	0	0.001168	0	6	47				
DMD	1756	broad.mit.edu	37	X	32536160	32536160	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chrX:32536160C>A	ENST00000357033.4	-	18	2463	c.2257G>T	c.(2257-2259)Gaa>Taa	p.E753*	DMD_ENST00000288447.4_Nonsense_Mutation_p.E745*|DMD_ENST00000378677.2_Nonsense_Mutation_p.E749*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	753					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E749K(2)|p.E748K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAGTTGCCTTCCTTCCGAAAG	0.383																																							uc004dda.1		NA																	3	Substitution - Missense(3)		prostate(3)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(2257-2259)GAA>TAA		dystrophin Dp427m isoform							73.0	65.0	67.0					X																	32536160		2202	4300	6502	SO:0001587	stop_gained	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32536160C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2257G>T	X.37:g.32536160C>A	ENSP00000354923:p.Glu753*					DMD_uc004dcz.2_Nonsense_Mutation_p.E630*|DMD_uc004dcy.1_Nonsense_Mutation_p.E749*|DMD_uc004ddb.1_Nonsense_Mutation_p.E745*|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Nonsense_Mutation_p.E745*	p.E753*	NM_004006	NP_003997	P11532	DMD_HUMAN			18	2501	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	753			Spectrin 4.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	c.2257G>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	40	8.214672	0.98709	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	.	.	.	5.07	4.21	0.49690	.	0.251712	0.19274	U	0.118325	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	12.4582	0.55716	0.0:0.9151:0.0:0.0849	.	.	.	.	X	745;749;753;753;630;745	.	ENSP00000288447:E745X	E	-	1	0	DMD	32446081	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	5.505000	0.66981	0.913000	0.36797	0.583000	0.79449	GAA		0.383	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		6	25	1	0	0.00116845	0.001168	0.00144635	6	25				
ARAF	369	broad.mit.edu	37	X	47426120	47426120	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chrX:47426120T>A	ENST00000377045.4	+	7	834	c.640T>A	c.(640-642)Tcc>Acc	p.S214T	ARAF_ENST00000290277.6_Intron	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	214					cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CCGCTCCACGTCCACTCCCAA	0.662																																							uc011mlq.1		NA																	0				large_intestine(3)|lung(2)|ovary(1)|skin(1)	7						c.(640-642)TCC>ACC		v-raf murine sarcoma 3611 viral oncogene	Adenosine triphosphate(DB00171)						71.0	57.0	62.0					X																	47426120		2203	4300	6503	SO:0001583	missense	369				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chrX:47426120T>A	X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.640T>A	X.37:g.47426120T>A	ENSP00000366244:p.Ser214Thr					ARAF_uc011mln.1_Intron|ARAF_uc011mlo.1_Missense_Mutation_p.S80T|ARAF_uc011mlp.1_Missense_Mutation_p.S214T|ARAF_uc004dic.1_5'UTR	p.S214T	NM_001654	NP_001645	P10398	ARAF_HUMAN			7	773	+			214					P07557|Q5H9B2|Q5H9B3	Missense_Mutation	SNP	ENST00000377045.4	37	c.640T>A	CCDS35232.1	.	.	.	.	.	.	.	.	.	.	T	19.45	3.830467	0.71258	.	.	ENSG00000078061	ENST00000377045	T	0.76316	-1.01	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.84202	0.5420	M	0.78456	2.415	0.80722	D	1	P;P	0.51057	0.574;0.941	B;P	0.54431	0.333;0.752	D	0.86306	0.1683	10	0.87932	D	0	.	12.2128	0.54389	0.0:0.0:0.0:1.0	.	214;80	P10398;B4DV85	ARAF_HUMAN;.	T	214	ENSP00000366244:S214T	ENSP00000366244:S214T	S	+	1	0	ARAF	47311064	1.000000	0.71417	0.887000	0.34795	0.944000	0.59088	7.542000	0.82095	1.788000	0.52465	0.441000	0.28932	TCC		0.662	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1			3	20	0	0	0	0.004672	0	3	20				
LAS1L	81887	broad.mit.edu	37	X	64744855	64744855	+	Silent	SNP	T	T	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chrX:64744855T>A	ENST00000374811.3	-	8	1072	c.1032A>T	c.(1030-1032)atA>atT	p.I344I	LAS1L_ENST00000374804.5_Silent_p.I302I|LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Silent_p.I344I	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	344					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CTTCATATTCTATCTGCAAAG	0.547																																							uc004dwa.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(1030-1032)ATA>ATT		LAS1-like							93.0	78.0	83.0					X																	64744855		2203	4300	6503	SO:0001819	synonymous_variant	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64744855T>A	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1032A>T	X.37:g.64744855T>A						LAS1L_uc004dwc.1_Silent_p.I344I|LAS1L_uc004dwd.1_Silent_p.I302I	p.I344I	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN			8	1104	-			344					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Silent	SNP	ENST00000374811.3	37	c.1032A>T	CCDS14381.1																																																																																				0.547	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		6	21	0	0	0	0.001984	0	6	21				
STARD8	9754	broad.mit.edu	37	X	67939098	67939098	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chrX:67939098C>A	ENST00000252336.6	+	6	1879	c.1507C>A	c.(1507-1509)Cat>Aat	p.H503N	STARD8_ENST00000374599.3_Missense_Mutation_p.H583N|STARD8_ENST00000374597.3_Missense_Mutation_p.H503N	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	503					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CCAGAACTCCCATCGTCCCAG	0.587																																							uc004dxa.2		NA																	0				breast(3)|ovary(2)|pancreas(1)	6						c.(1507-1509)CAT>AAT		StAR-related lipid transfer (START) domain							47.0	36.0	40.0					X																	67939098		2203	4300	6503	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67939098C>A	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1507C>A	X.37:g.67939098C>A	ENSP00000252336:p.His503Asn					STARD8_uc004dxb.2_Missense_Mutation_p.H583N|STARD8_uc004dxc.3_Missense_Mutation_p.H503N	p.H503N	NM_014725	NP_055540	Q92502	STAR8_HUMAN			6	1879	+			503					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.1507C>A	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983325	0.35036	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.07327	3.2;3.21;3.2	4.12	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.12390	0.0301	M	0.62723	1.935	0.46631	D	0.999135	B;B	0.29378	0.198;0.243	B;B	0.32805	0.153;0.074	T	0.03587	-1.1022	10	0.56958	D	0.05	.	12.9733	0.58525	0.0:1.0:0.0:0.0	.	583;503	Q92502-2;Q92502	.;STAR8_HUMAN	N	503;583;503	ENSP00000252336:H503N;ENSP00000363727:H583N;ENSP00000363725:H503N	ENSP00000252336:H503N	H	+	1	0	STARD8	67855823	0.085000	0.21516	0.996000	0.52242	0.907000	0.53573	0.440000	0.21592	1.912000	0.55364	0.529000	0.55759	CAT		0.587	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		16	31	1	0	1.56452e-12	0.007413	2.60564e-12	16	31				
RLIM	51132	broad.mit.edu	37	X	73811943	73811943	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chrX:73811943G>T	ENST00000332687.6	-	4	1425	c.1207C>A	c.(1207-1209)Cag>Aag	p.Q403K	RLIM_ENST00000349225.2_Missense_Mutation_p.Q403K	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	403					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AACATGGTCTGAATTGCAACA	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	Esophageal Squamous(169;1899 1923 14997 18818 32118)	uc004ebu.2		NA																	0				ovary(2)	2						c.(1207-1209)CAG>AAG		ring finger protein, LIM domain interacting							100.0	91.0	94.0					X																	73811943		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811943G>T	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1207C>A	X.37:g.73811943G>T	ENSP00000328059:p.Gln403Lys					RLIM_uc004ebw.2_Missense_Mutation_p.Q403K	p.Q403K	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN			5	1497	-			403					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.1207C>A	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602047	0.46423	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.09350	2.99;2.99	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	M	0.73962	2.25	0.80722	D	1	D	0.63880	0.993	D	0.67548	0.952	T	0.05419	-1.0886	10	0.59425	D	0.04	-2.3231	18.5132	0.90925	0.0:0.0:1.0:0.0	.	403	Q9NVW2	RNF12_HUMAN	K	403	ENSP00000328059:Q403K;ENSP00000253571:Q403K	ENSP00000328059:Q403K	Q	-	1	0	RLIM	73728668	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.413000	0.97351	2.314000	0.78098	0.600000	0.82982	CAG		0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		13	74	1	0	2.27111e-07	0.001368	3.28129e-07	13	74				
ATRX	546	broad.mit.edu	37	X	76938620	76938620	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chrX:76938620T>C	ENST00000373344.5	-	9	2342	c.2128A>G	c.(2128-2130)Aat>Gat	p.N710D	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.N672D	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	710					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GGCTTAGGATTATCTATAGCA	0.353			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(2128-2130)AAT>GAT		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						160.0	158.0	159.0					X																	76938620		2203	4295	6498	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938620T>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2128A>G	X.37:g.76938620T>C	ENSP00000362441:p.Asn710Asp					ATRX_uc004ecq.3_Missense_Mutation_p.N672D|ATRX_uc004eco.3_Missense_Mutation_p.N495D|ATRX_uc004ecr.2_Missense_Mutation_p.N642D|ATRX_uc010nlx.1_Missense_Mutation_p.N681D|ATRX_uc010nly.1_Missense_Mutation_p.N655D	p.N710D	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	2360	-			710					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.2128A>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	5.776	0.327630	0.10956	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.91740	-2.89;-2.9	5.74	5.74	0.90152	.	0.165784	0.42821	D	0.000642	D	0.88559	0.6469	L	0.44542	1.39	0.80722	D	1	B;B;B;B	0.33883	0.255;0.43;0.008;0.255	B;B;B;B	0.38296	0.057;0.27;0.011;0.057	D	0.86050	0.1525	10	0.37606	T	0.19	-16.2482	8.5226	0.33285	0.0:0.0955:0.0:0.9045	.	710;642;672;710	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	D	710;672;637	ENSP00000362441:N710D;ENSP00000378967:N672D	ENSP00000362441:N710D	N	-	1	0	ATRX	76825276	0.012000	0.17670	0.996000	0.52242	0.948000	0.59901	0.514000	0.22786	1.923000	0.55706	0.417000	0.27973	AAT		0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		9	242	0	0	0	0.006214	0	9	242				
ZCCHC5	203430	broad.mit.edu	37	X	77913735	77913735	+	Silent	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chrX:77913735G>T	ENST00000321110.1	-	2	478	c.183C>A	c.(181-183)ccC>ccA	p.P61P		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	61	Pro-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GGAGCTTCTGGGGCTCCTTGG	0.567																																							uc004edc.1		NA																	0				ovary(1)	1						c.(181-183)CCC>CCA		zinc finger, CCHC domain containing 5							30.0	28.0	29.0					X																	77913735		2203	4300	6503	SO:0001819	synonymous_variant	203430						nucleic acid binding|zinc ion binding	g.chrX:77913735G>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.183C>A	X.37:g.77913735G>T							p.P61P	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN			2	479	-			61			Pro-rich.		B2RMZ0|Q5JQE9	Silent	SNP	ENST00000321110.1	37	c.183C>A	CCDS14440.1																																																																																				0.567	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		9	27	1	0	3.09899e-07	0.004482	4.44933e-07	9	27				
NRK	203447	broad.mit.edu	37	X	105153581	105153581	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chrX:105153581G>C	ENST00000243300.9	+	13	2251	c.1948G>C	c.(1948-1950)Gca>Cca	p.A650P	NRK_ENST00000428173.2_Missense_Mutation_p.A651P	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	650					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTTGCTTCGGGCACCAAACTC	0.483										HNSCC(51;0.14)																													uc004emd.2		NA																	0				breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(1948-1950)GCA>CCA		Nik related kinase							44.0	40.0	41.0					X																	105153581		1897	4103	6000	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105153581G>C	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1948G>C	X.37:g.105153581G>C	ENSP00000434830:p.Ala650Pro	HNSCC(51;0.14)				NRK_uc010npc.1_Missense_Mutation_p.A318P	p.A650P	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			13	2251	+			650					Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.1948G>C		.	.	.	.	.	.	.	.	.	.	G	13.19	2.163096	0.38217	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.79352	-1.25;-1.26	4.28	4.28	0.50868	.	0.000000	0.48767	D	0.000170	T	0.81508	0.4837	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.82810	-0.0273	10	0.59425	D	0.04	.	13.6189	0.62126	0.0:0.0:1.0:0.0	.	318;650	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	P	650;651	ENSP00000434830:A650P;ENSP00000438378:A651P	ENSP00000434830:A650P	A	+	1	0	NRK	105040237	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	3.817000	0.55668	2.383000	0.81215	0.600000	0.82982	GCA		0.483	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		3	9	0	0	0	0.004672	0	3	9				
MUM1L1	139221	broad.mit.edu	37	X	105450147	105450147	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chrX:105450147C>A	ENST00000357175.2	+	4	1371	c.722C>A	c.(721-723)tCa>tAa	p.S241*	MUM1L1_ENST00000337685.2_Nonsense_Mutation_p.S241*|MUM1L1_ENST00000372552.1_Nonsense_Mutation_p.S241*	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	241						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCACCTTTGTCACCTTTGTCA	0.428																																							uc004emf.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(721-723)TCA>TAA		melanoma associated antigen (mutated) 1-like 1							82.0	72.0	75.0					X																	105450147		1933	4126	6059	SO:0001587	stop_gained	139221							g.chrX:105450147C>A	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.722C>A	X.37:g.105450147C>A	ENSP00000349699:p.Ser241*					MUM1L1_uc004emg.1_Nonsense_Mutation_p.S241*	p.S241*	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN			4	1371	+			241					D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Nonsense_Mutation	SNP	ENST00000357175.2	37	c.722C>A	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	C	36	5.815379	0.96982	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	.	.	.	.	.	.	.	2.310920	0.03601	U	0.233385	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	.	.	.	.	.	.	.	X	241	.	ENSP00000338641:S241X	S	+	2	0	MUM1L1	105336803	0.012000	0.17670	0.009000	0.14445	0.017000	0.09413	0.076000	0.14712	0.080000	0.16959	0.081000	0.15443	TCA		0.428	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		8	21	1	0	5.18039e-06	0.00308	6.91726e-06	8	21				
GUCY2F	2986	broad.mit.edu	37	X	108696812	108696812	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chrX:108696812G>T	ENST00000218006.2	-	4	1600	c.1309C>A	c.(1309-1311)Cct>Act	p.P437T		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	437					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AAGTGAATAGGGGTCCCTCCG	0.488																																							uc004eod.3		NA																	0				lung(4)|breast(3)|central_nervous_system(1)	8						c.(1309-1311)CCT>ACT		guanylate cyclase 2F precursor							146.0	107.0	120.0					X																	108696812		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108696812G>T	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1309C>A	X.37:g.108696812G>T	ENSP00000218006:p.Pro437Thr					GUCY2F_uc011msq.1_RNA	p.P437T	NM_001522	NP_001513	P51841	GUC2F_HUMAN			4	1585	-			437			Extracellular (Potential).		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.1309C>A	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	G	8.780	0.928078	0.18131	.	.	ENSG00000101890	ENST00000218006	T	0.74632	-0.86	3.97	3.07	0.35406	.	0.657184	0.15535	N	0.257259	T	0.62380	0.2423	L	0.40543	1.245	0.35603	D	0.808042	B	0.02656	0.0	B	0.06405	0.002	T	0.59616	-0.7421	10	0.19590	T	0.45	.	9.8157	0.40851	0.0:0.0:0.7936:0.2064	.	437	P51841	GUC2F_HUMAN	T	437	ENSP00000218006:P437T	ENSP00000218006:P437T	P	-	1	0	GUCY2F	108583468	0.859000	0.29813	0.547000	0.28179	0.841000	0.47740	1.681000	0.37618	0.968000	0.38212	0.506000	0.49869	CCT		0.488	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		11	47	1	0	1.49906e-05	0.00245	1.97859e-05	11	47				
NKAP	79576	broad.mit.edu	37	X	119059199	119059199	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chrX:119059199C>A	ENST00000371410.3	-	9	1398	c.1232G>T	c.(1231-1233)gGg>gTg	p.G411V	NKAP_ENST00000477789.1_5'UTR|AC002477.1_ENST00000581061.1_RNA|RP3-327A19.5_ENST00000455986.1_RNA	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	411	Necessary for interaction with HDAC3 and transcriptional repression.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GTCATCCTTCCCTTTGGTCTT	0.368																																							uc004esh.2		NA																	0				ovary(2)	2						c.(1231-1233)GGG>GTG		NFKB activating protein							155.0	144.0	148.0					X																	119059199		2203	4300	6503	SO:0001583	missense	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119059199C>A	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.1232G>T	X.37:g.119059199C>A	ENSP00000360464:p.Gly411Val					NKAP_uc004esg.2_Missense_Mutation_p.G298V	p.G411V	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN			9	1399	-			411			Necessary for interaction with HDAC3 and transcriptional repression.		Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	ENST00000371410.3	37	c.1232G>T	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893761	0.72639	.	.	ENSG00000101882	ENST00000371410	T	0.18174	2.23	5.74	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.27663	0.0680	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.01600	-1.1315	10	0.56958	D	0.05	-10.9609	10.3148	0.43729	0.0:0.7933:0.131:0.0757	.	411	Q8N5F7	NKAP_HUMAN	V	411	ENSP00000360464:G411V	ENSP00000360464:G411V	G	-	2	0	NKAP	118943227	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.720000	0.68470	1.184000	0.42957	0.600000	0.82982	GGG		0.368	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		20	94	1	0	4.35082e-09	0.001523	6.57648e-09	20	94				
ELF4	2000	broad.mit.edu	37	X	129200733	129200733	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chrX:129200733G>T	ENST00000308167.5	-	9	2334	c.1955C>A	c.(1954-1956)cCt>cAt	p.P652H	ELF4_ENST00000335997.7_Missense_Mutation_p.P652H	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAGGGAAGTAGGGTTGAATGG	0.547			T	ERG	AML																																		uc004evd.3		NA		Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				ovary(1)	1						c.(1954-1956)CCT>CAT		E74-like factor 4							96.0	109.0	105.0					X																	129200733		2193	4277	6470	SO:0001583	missense	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129200733G>T	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1955C>A	X.37:g.129200733G>T	ENSP00000311280:p.Pro652His					ELF4_uc004eve.3_Missense_Mutation_p.P652H	p.P652H	NM_001421	NP_001412	Q99607	ELF4_HUMAN			9	2340	-			652						Missense_Mutation	SNP	ENST00000308167.5	37	c.1955C>A	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294898	0.60086	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	T;T	0.26373	1.74;1.74	4.36	4.36	0.52297	.	0.546848	0.16897	N	0.195098	T	0.36908	0.0984	L	0.27053	0.805	0.36155	D	0.847732	D	0.89917	1.0	D	0.85130	0.997	T	0.45644	-0.9247	10	0.87932	D	0	.	11.9069	0.52717	0.0:0.0:1.0:0.0	.	652	Q99607	ELF4_HUMAN	H	652	ENSP00000338608:P652H;ENSP00000311280:P652H	ENSP00000311280:P652H	P	-	2	0	ELF4	129028414	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	4.659000	0.61504	2.096000	0.63516	0.513000	0.50165	CCT		0.547	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		28	171	1	0	5.77227e-19	0.008361	1.08348e-18	28	171				
USP26	83844	broad.mit.edu	37	X	132161952	132161952	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chrX:132161952G>T	ENST00000511190.1	-	6	766	c.297C>A	c.(295-297)gaC>gaA	p.D99E	USP26_ENST00000370832.1_Missense_Mutation_p.D99E|USP26_ENST00000406273.1_Missense_Mutation_p.D99E	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	99					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GATGAACTCTGTCCAAGAATA	0.388																																					NSCLC(104;342 1621 36940 47097 52632)	NSCLC(104;342 1621 36940 47097 52632)	uc010nrm.1		NA																	0				lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8						c.(295-297)GAC>GAA		ubiquitin-specific protease 26							86.0	75.0	79.0					X																	132161952		2203	4299	6502	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132161952G>T	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.297C>A	X.37:g.132161952G>T	ENSP00000423390:p.Asp99Glu					USP26_uc011mvf.1_Missense_Mutation_p.D99E	p.D99E	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN			6	767	-	Acute lymphoblastic leukemia(192;0.000127)		99					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.297C>A	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	G	9.255	1.041628	0.19748	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.57436	0.4;0.4;0.4	4.01	-7.47	0.01365	.	0.657093	0.12565	N	0.457830	T	0.36138	0.0956	L	0.50333	1.59	0.09310	N	1	B	0.32939	0.391	B	0.37650	0.255	T	0.23261	-1.0193	10	0.34782	T	0.22	-4.0416	1.0874	0.01655	0.4129:0.1112:0.2505:0.2255	.	99	Q9BXU7	UBP26_HUMAN	E	99	ENSP00000359869:D99E;ENSP00000423390:D99E;ENSP00000384360:D99E	ENSP00000359869:D99E	D	-	3	2	USP26	131989618	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.888000	0.04148	-2.156000	0.00790	-1.144000	0.01866	GAC		0.388	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		7	30	1	0	0.00198382	0.001984	0.0024229	7	30				
DDX26B	203522	broad.mit.edu	37	X	134680705	134680705	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chrX:134680705G>T	ENST00000370752.4	+	5	842	c.508G>T	c.(508-510)Gcc>Tcc	p.A170S	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	170	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGTTATTTGCCCTGGTGTT	0.468																																							uc004eyw.3		NA																	0					0						c.(508-510)GCC>TCC		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide							150.0	122.0	131.0					X																	134680705		2203	4300	6503	SO:0001583	missense	203522							g.chrX:134680705G>T	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.508G>T	X.37:g.134680705G>T	ENSP00000359788:p.Ala170Ser						p.A170S	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN			5	871	+	Acute lymphoblastic leukemia(192;6.56e-05)		170			VWFA.		Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.508G>T	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834613	0.32421	.	.	ENSG00000165359	ENST00000370752	T	0.14766	2.48	5.27	5.27	0.74061	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.09862	0.0242	N	0.11255	0.115	0.80722	D	1	P	0.36048	0.534	B	0.42916	0.402	T	0.05354	-1.0890	10	0.02654	T	1	-7.868	16.9486	0.86237	0.0:0.0:1.0:0.0	.	170	Q5JSJ4	DX26B_HUMAN	S	170	ENSP00000359788:A170S	ENSP00000359788:A170S	A	+	1	0	DDX26B	134508371	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.449000	0.73473	2.209000	0.71365	0.523000	0.50628	GCC		0.468	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		21	81	1	0	8.34094e-07	0.008871	1.16824e-06	21	81				
FHL1	2273	broad.mit.edu	37	X	135291445	135291445	+	Silent	SNP	T	T	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chrX:135291445T>A	ENST00000345434.3	+	6	813	c.732T>A	c.(730-732)gcT>gcA	p.A244A	FHL1_ENST00000535737.1_Intron|FHL1_ENST00000394155.2_Silent_p.A244A|FHL1_ENST00000394153.2_Intron|FHL1_ENST00000539015.1_Intron|FHL1_ENST00000370690.3_Intron|FHL1_ENST00000370683.1_Intron|FHL1_ENST00000370676.3_Intron|FHL1_ENST00000543669.1_Intron			Q13642	FHL1_HUMAN	four and a half LIM domains 1	244					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					TCTCTAAAGCTAGGAAGCCCC	0.572											OREG0019943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc004ezo.2		NA																	0					0						c.(730-732)GCT>GCA		four and a half LIM domains 1 isoform 1							55.0	50.0	52.0					X																	135291445		1568	3582	5150	SO:0001819	synonymous_variant	2273				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	g.chrX:135291445T>A	U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"""Four-and-a-half LIM domains 1"", ""LIM protein SLIMMER"""	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.732T>A	X.37:g.135291445T>A			OREG0019943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1617	FHL1_uc010nrz.2_Intron|FHL1_uc004ezm.2_Intron|FHL1_uc004ezl.2_Intron|FHL1_uc004ezq.2_Intron|FHL1_uc011mvy.1_Intron|FHL1_uc011mvz.1_Intron|FHL1_uc004ezn.2_Intron|FHL1_uc011mwa.1_Intron|FHL1_uc011mwb.1_Intron|FHL1_uc004ezp.2_Intron|FHL1_uc004ezr.2_Intron	p.A244A	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN			6	832	+	Acute lymphoblastic leukemia(192;0.000127)		244					B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Silent	SNP	ENST00000345434.3	37	c.732T>A	CCDS55507.1																																																																																				0.572	FHL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058461.1	NM_001449		4	38	0	0	0	0.000602	0	4	38				
SPANXN2	494119	broad.mit.edu	37	X	142795344	142795344	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chrX:142795344C>G	ENST00000370498.1	-	2	1087	c.334G>C	c.(334-336)Gac>Cac	p.D112H		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	112										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTCTTCGTCCTCCTGTGAA	0.527																																							uc004fbz.2		NA																	0				ovary(1)	1						c.(334-336)GAC>CAC		SPANX-N2 protein							91.0	86.0	88.0					X																	142795344		2198	4294	6492	SO:0001583	missense	494119							g.chrX:142795344C>G		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.334G>C	X.37:g.142795344C>G	ENSP00000359529:p.Asp112His						p.D112H	NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN			2	1088	-	Acute lymphoblastic leukemia(192;6.56e-05)		112					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.334G>C	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	C	5.185	0.219707	0.09863	.	.	ENSG00000203924	ENST00000370498	T	0.08102	3.13	0.595	-0.492	0.12041	.	.	.	.	.	T	0.08492	0.0211	L	0.56769	1.78	0.09310	N	1	B	0.24576	0.106	B	0.19946	0.027	T	0.31586	-0.9938	8	0.87932	D	0	.	.	.	.	.	112	Q5MJ10	SPXN2_HUMAN	H	112	ENSP00000359529:D112H	ENSP00000359529:D112H	D	-	1	0	SPANXN2	142623010	0.003000	0.15002	0.001000	0.08648	0.036000	0.12997	0.537000	0.23144	-0.316000	0.08690	0.173000	0.16961	GAC		0.527	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		48	385	0	0	0	0.00361	0	48	385				
AFF2	2334	broad.mit.edu	37	X	147733577	147733577	+	Silent	SNP	A	A	G	rs144497911	byFrequency	TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chrX:147733577A>G	ENST00000370460.2	+	2	584	c.105A>G	c.(103-105)caA>caG	p.Q35Q	AFF2_ENST00000370458.1_Silent_p.Q35Q|AFF2_ENST00000342251.3_Silent_p.Q35Q|AFF2_ENST00000370457.5_Silent_p.Q35Q	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	35					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGAATCAAGAAGTCCAGC	0.363																																							uc004fcp.2		NA																	0				ovary(3)|pancreas(2)	5						c.(103-105)CAA>CAG		fragile X mental retardation 2		A	,,,,	1,3834		0,0,1,1632,570	202.0	193.0	196.0		105,105,105,105,105	0.1	1.0	X	dbSNP_134	196	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	AFF2	NM_001169122.1,NM_001169123.1,NM_001169124.1,NM_001169125.1,NM_002025.3	,,,,	0,0,1,4060,2442	GG,GA,G,AA,A		0.0,0.0261,0.0095	,,,,	35/1277,35/1302,35/1277,35/1273,35/1312	147733577	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147733577A>G	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.105A>G	X.37:g.147733577A>G						AFF2_uc004fco.2_Silent_p.Q35Q|AFF2_uc004fcq.2_Silent_p.Q35Q|AFF2_uc004fcr.2_Silent_p.Q35Q|AFF2_uc011mxb.1_Silent_p.Q35Q|AFF2_uc004fcs.2_Silent_p.Q35Q	p.Q35Q	NM_002025	NP_002016	P51816	AFF2_HUMAN			2	584	+	Acute lymphoblastic leukemia(192;6.56e-05)		35					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.105A>G	CCDS14684.1																																																																																				0.363	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		28	87	0	0	0	0.008361	0	28	87				
AFF2	2334	broad.mit.edu	37	X	147743554	147743554	+	Silent	SNP	G	G	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chrX:147743554G>T	ENST00000370460.2	+	3	785	c.306G>T	c.(304-306)gtG>gtT	p.V102V	AFF2_ENST00000370458.1_Silent_p.V98V|AFF2_ENST00000342251.3_Silent_p.V98V|AFF2_ENST00000370457.5_Silent_p.V98V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	102					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGAATTCTGTGCCCCAGAATC	0.398																																							uc004fcp.2		NA																	0				ovary(3)|pancreas(2)	5						c.(304-306)GTG>GTT		fragile X mental retardation 2							143.0	145.0	145.0					X																	147743554		2203	4300	6503	SO:0001819	synonymous_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147743554G>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.306G>T	X.37:g.147743554G>T						AFF2_uc004fco.2_Silent_p.V98V|AFF2_uc004fcq.2_Silent_p.V98V|AFF2_uc004fcr.2_Silent_p.V98V|AFF2_uc011mxb.1_Silent_p.V102V|AFF2_uc004fcs.2_Silent_p.V98V	p.V102V	NM_002025	NP_002016	P51816	AFF2_HUMAN			3	785	+	Acute lymphoblastic leukemia(192;6.56e-05)		102					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.306G>T	CCDS14684.1																																																																																				0.398	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		82	117	1	0	8.00303e-49	0.00361	1.62906e-48	82	117				
GPR50	9248	broad.mit.edu	37	X	150348412	150348412	+	Silent	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chrX:150348412C>A	ENST00000218316.3	+	2	426	c.357C>A	c.(355-357)atC>atA	p.I119I	GPR50-AS1_ENST00000454196.1_RNA|AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	119					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTCAACATCGTGGCAATCG	0.542																																							uc010ntg.1		NA																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(355-357)ATC>ATA		G protein-coupled receptor 50							157.0	151.0	153.0					X																	150348412		2200	4300	6500	SO:0001819	synonymous_variant	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150348412C>A	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.357C>A	X.37:g.150348412C>A						uc004fes.1_5'Flank|GPR50_uc011myc.1_Silent_p.I119I	p.I119I	NM_004224	NP_004215	Q13585	MTR1L_HUMAN			2	492	+	Acute lymphoblastic leukemia(192;6.56e-05)		119			Helical; Name=3; (Potential).		Q0VGG3|Q3ZAR0	Silent	SNP	ENST00000218316.3	37	c.357C>A	CCDS44012.1																																																																																				0.542	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		47	83	1	0	3.4345e-17	0.002852	6.26693e-17	47	83				
FLNA	2316	broad.mit.edu	37	X	153593758	153593758	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chrX:153593758C>A	ENST00000369850.3	-	10	1762	c.1526G>T	c.(1525-1527)gGc>gTc	p.G509V	FLNA_ENST00000360319.4_Missense_Mutation_p.G509V|FLNA_ENST00000344736.4_Missense_Mutation_p.G509V|FLNA_ENST00000422373.1_Missense_Mutation_p.G509V	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	509					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTGCCAGCGCCCTTTGTGTA	0.672																																							uc004fkk.2		NA																	0				breast(6)	6						c.(1525-1527)GGC>GTC		filamin A, alpha isoform 2							58.0	61.0	60.0					X																	153593758		2030	4155	6185	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153593758C>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1526G>T	X.37:g.153593758C>A	ENSP00000358866:p.Gly509Val					FLNA_uc010nuu.1_Missense_Mutation_p.G509V	p.G509V	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			10	1775	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		509			Filamin 3.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.1526G>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575336	0.28092	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	4.44	4.44	0.53790	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000001	D	0.93281	0.7859	M	0.91300	3.195	0.80722	D	1	P;D	0.76494	0.529;0.999	B;D	0.79108	0.283;0.992	D	0.94538	0.7742	10	0.87932	D	0	.	13.1482	0.59474	0.0:0.8296:0.1704:0.0	.	509;509	P21333-2;P21333	.;FLNA_HUMAN	V	509;482;509;509;509	ENSP00000353467:G509V;ENSP00000416926:G509V;ENSP00000358866:G509V;ENSP00000358863:G509V	ENSP00000358863:G509V	G	-	2	0	FLNA	153246952	0.209000	0.23505	0.678000	0.29963	0.966000	0.64601	1.033000	0.30191	1.783000	0.52377	0.540000	0.68198	GGC		0.672	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			19	76	1	0	6.94344e-10	0.006122	1.08536e-09	19	76				
ITGA8	8516	broad.mit.edu	37	10	15713635	15713636	+	Frame_Shift_Ins	INS	-	-	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr10:15713635_15713636insA	ENST00000378076.3	-	8	1166_1167	c.813_814insT	c.(811-816)gttgctfs	p.A272fs		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	272					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCCCCAGCAGCAACTGAGTATC	0.371																																							uc001ioc.1		NA																	0				ovary(3)|lung(3)	6						c.(811-816)GTTGCTfs		integrin, alpha 8 precursor																																				SO:0001589	frameshift_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15713635_15713636insA	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.814dupT	10.37:g.15713637_15713637dupA	ENSP00000367316:p.Ala272fs					ITGA8_uc010qcb.1_Intron	p.V271fs	NM_003638	NP_003629	P53708	ITA8_HUMAN			8	813_814	-			271_272			Extracellular (Potential).|FG-GAP 4.		B0YJ31|Q5VX94	Frame_Shift_Ins	INS	ENST00000378076.3	37	c.813_814insT	CCDS31155.1																																																																																				0.371	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		11	14	NA	NA	NA	NA	NA	11	14	---	---	---	---
BMS1	9790	broad.mit.edu	37	10	43316126	43316126	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr10:43316126delA	ENST00000374518.5	+	17	3003	c.2940delA	c.(2938-2940)gcafs	p.A981fs		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	981					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATTGCGGAGCAGCCTTTTGGG	0.408																																							uc001jaj.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(2938-2940)GCAfs		BMS1-like, ribosome assembly protein							40.0	42.0	42.0					10																	43316126		2145	4273	6418	SO:0001589	frameshift_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43316126delA	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2940delA	10.37:g.43316126delA	ENSP00000363642:p.Ala981fs						p.A980fs	NM_014753	NP_055568	Q14692	BMS1_HUMAN			17	3298	+			980					Q5QPT5|Q86XJ9	Frame_Shift_Del	DEL	ENST00000374518.5	37	c.2940delA	CCDS7199.1																																																																																				0.408	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		11	43	NA	NA	NA	NA	NA	11	43	---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	96084675	96084675	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr10:96084675delC	ENST00000371380.3	+	31	6982	c.6747delC	c.(6745-6747)ggcfs	p.G2249fs	NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000260766.3_Frame_Shift_Del_p.G2249fs|PLCE1_ENST00000464214.1_3'UTR|PLCE1_ENST00000371375.1_Frame_Shift_Del_p.G1941fs|PLCE1_ENST00000371385.3_Frame_Shift_Del_p.G1941fs			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2249					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAAAGAAAGGCATTTCTTTCG	0.428																																							uc001kjk.2		NA																	0				ovary(2)|skin(1)	3						c.(6745-6747)GGCfs		phospholipase C, epsilon 1 isoform 1							88.0	83.0	85.0					10																	96084675		1869	4122	5991	SO:0001589	frameshift_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96084675delC		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.6747delC	10.37:g.96084675delC	ENSP00000360431:p.Gly2249fs					PLCE1_uc010qnx.1_Frame_Shift_Del_p.G2233fs|PLCE1_uc001kjm.2_Frame_Shift_Del_p.G1941fs|PLCE1_uc001kjp.2_Frame_Shift_Del_p.G607fs	p.G2249fs	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			32	7381	+		Colorectal(252;0.0458)	2249					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Frame_Shift_Del	DEL	ENST00000371380.3	37	c.6747delC	CCDS41552.1																																																																																				0.428	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		26	39	NA	NA	NA	NA	NA	26	39	---	---	---	---
TUBGCP2	10844	broad.mit.edu	37	10	135093312	135093312	+	Frame_Shift_Del	DEL	C	C	-	rs558821895		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr10:135093312delC	ENST00000252936.3	-	17	2706	c.2667delG	c.(2665-2667)gggfs	p.G889fs	TUBGCP2_ENST00000368562.1_Frame_Shift_Del_p.G482fs|TUBGCP2_ENST00000543663.1_Frame_Shift_Del_p.G917fs|TUBGCP2_ENST00000417178.2_Frame_Shift_Del_p.G759fs|ADAM8_ENST00000445355.3_5'Flank|TUBGCP2_ENST00000368563.2_Frame_Shift_Del_p.G889fs|ADAM8_ENST00000559180.1_5'Flank|ADAM8_ENST00000485491.2_5'Flank|ADAM8_ENST00000415217.3_5'Flank			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	889					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GAGCCGGGGGCCCCCGCAGGA	0.647																																							uc001lmg.1		NA																	0					0						c.(2665-2667)GGGfs		tubulin, gamma complex associated protein 2							7.0	8.0	8.0					10																	135093312		2182	4262	6444	SO:0001589	frameshift_variant	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135093312delC	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.2667delG	10.37:g.135093312delC	ENSP00000252936:p.Gly889fs					ADAM8_uc010quz.1_5'Flank|ADAM8_uc009ybi.2_5'Flank|ADAM8_uc010qva.1_5'Flank|ADAM8_uc009ybj.1_5'Flank|TUBGCP2_uc001lmf.1_Frame_Shift_Del_p.G482fs|TUBGCP2_uc010qvc.1_Frame_Shift_Del_p.G917fs|TUBGCP2_uc009ybk.1_Frame_Shift_Del_p.G912fs|TUBGCP2_uc010qvd.1_Frame_Shift_Del_p.G759fs|TUBGCP2_uc001lmh.1_RNA	p.G889fs	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	18	3024	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	889					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Frame_Shift_Del	DEL	ENST00000252936.3	37	c.2667delG	CCDS7676.1																																																																																				0.647	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			5	11	NA	NA	NA	NA	NA	5	11	---	---	---	---
ATM	472	broad.mit.edu	37	11	108115600	108115601	+	Frame_Shift_Del	DEL	CG	CG	-	rs56123940		TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:108115600_108115601delCG	ENST00000452508.2	+	8	937_938	c.748_749delCG	c.(748-750)cgafs	p.R250fs	ATM_ENST00000278616.4_Frame_Shift_Del_p.R250fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	250			R -> Q. {ECO:0000269|PubMed:17344846}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.R250*(4)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTTTCGAATTCGAGTGTGTGAA	0.337			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													uc001pkb.1		NA	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		4	Substitution - Nonsense(4)		large_intestine(2)|kidney(2)	haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240	GRCh37	CM030188|CS991299	ATM	M|S		c.(748-750)CGAfs	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1																																				SO:0001589	frameshift_variant	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108115600_108115601delCG	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.748_749delCG	11.37:g.108115600_108115601delCG	ENSP00000388058:p.Arg250fs	TSP Lung(14;0.12)				ATM_uc009yxr.1_Frame_Shift_Del_p.R250fs	p.R250fs	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	7	1133_1134	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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)	250		R -> Q.			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	c.748_749delCG	CCDS31669.1																																																																																				0.337	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		20	63	NA	NA	NA	NA	NA	20	63	---	---	---	---
ATM	472	broad.mit.edu	37	11	108186559	108186559	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr11:108186559delT	ENST00000452508.2	+	42	6205	c.6016delT	c.(6016-6018)ttafs	p.L2006fs	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Frame_Shift_Del_p.L2006fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2006	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GGATCTTCTCTTAGAAATCTA	0.323			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													uc001pkb.1		NA	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(6016-6018)TTAfs	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							71.0	71.0	71.0					11																	108186559		2201	4298	6499	SO:0001589	frameshift_variant	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108186559delT	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6016delT	11.37:g.108186559delT	ENSP00000388058:p.Leu2006fs	TSP Lung(14;0.12)				ATM_uc009yxr.1_Frame_Shift_Del_p.L2006fs|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Frame_Shift_Del_p.L658fs|ATM_uc001pkg.1_Frame_Shift_Del_p.L363fs|ATM_uc009yxt.1_Frame_Shift_Del_p.L120fs	p.L2006fs	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	41	6401	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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)	2006			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	c.6016delT	CCDS31669.1																																																																																				0.323	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		13	33	NA	NA	NA	NA	NA	13	33	---	---	---	---
KRT19	3880	broad.mit.edu	37	17	39680687	39680688	+	Frame_Shift_Ins	INS	-	-	T			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr17:39680687_39680688insT	ENST00000361566.3	-	4	825_826	c.765_766insA	c.(763-768)caatatfs	p.Y256fs	KRT15_ENST00000393976.2_5'Flank|KRT15_ENST00000254043.3_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	256	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				ATGACCTCATATTGGCTTCGCA	0.604																																						Colon(16;42 520 6044 17852 28530)	uc010wfs.1		NA																	0				ovary(2)|lung(2)|breast(1)	5						c.(1252-1257)CAATATfs		junction plakoglobin																																				SO:0001589	frameshift_variant	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39680687_39680688insT		CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.766dupA	17.37:g.39680689_39680689dupT	ENSP00000355124:p.Tyr256fs					KRT15_uc002hxb.1_5'Flank|uc002hxc.1_5'Flank|KRT19_uc002hxd.3_Frame_Shift_Ins_p.Q255fs	p.Q418fs	NM_021991	NP_068831	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	7	1262_1263	-		Breast(137;0.000162)	Error:Variant_position_missing_in_P14923_after_alignment					B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Frame_Shift_Ins	INS	ENST00000361566.3	37	c.1254_1255insA	CCDS11399.1																																																																																				0.604	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276		13	102	NA	NA	NA	NA	NA	13	102	---	---	---	---
LEPREL4	10609	broad.mit.edu	37	17	39964116	39964116	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr17:39964116delG	ENST00000355468.3	-	6	1523	c.1057delC	c.(1057-1059)cggfs	p.R353fs	LEPREL4_ENST00000393928.1_Frame_Shift_Del_p.R353fs			Q92791	SC65_HUMAN	leprecan-like 4	353	Asp/Glu-rich (acidic).				synaptonemal complex assembly (GO:0007130)	condensed nuclear chromosome (GO:0000794)|nucleolus (GO:0005730)|synaptonemal complex (GO:0000795)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CCCACCTCCCGGGGCTGGAAG	0.602																																							uc002hxt.2		NA																	0					0						c.(1057-1059)CGGfs		synaptonemal complex protein SC65							36.0	36.0	36.0					17																	39964116		2203	4300	6503	SO:0001589	frameshift_variant	10609				synaptonemal complex assembly	nucleolus|synaptonemal complex	binding	g.chr17:39964116delG	BC001047	CCDS11408.1	17q12	2013-05-03	2002-08-29		ENSG00000141696	ENSG00000141696			16946	protein-coding gene	gene with protein product			"""nucleolar autoantigen (55kD)"", ""rat synaptonemal complex protein"""			8862517	Standard	NM_006455		Approved	SC65, NO55	uc002hxt.3	Q92791	OTTHUMG00000133501	ENST00000355468.3:c.1057delC	17.37:g.39964116delG	ENSP00000347649:p.Arg353fs					SC65_uc002hxu.2_Frame_Shift_Del_p.R444fs	p.R353fs	NM_006455	NP_006446	Q92791	SC65_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.149)	5	1341	-		Breast(137;0.000162)	353			Asp/Glu-rich (acidic).		Q53GI6|Q9H4F6	Frame_Shift_Del	DEL	ENST00000355468.3	37	c.1057delC	CCDS11408.1																																																																																				0.602	LEPREL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257439.2			18	31	NA	NA	NA	NA	NA	18	31	---	---	---	---
STK11	6794	broad.mit.edu	37	19	1221254	1221254	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr19:1221254delC	ENST00000326873.7	+	6	1950	c.777delC	c.(775-777)aacfs	p.N259fs		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	259	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(2)|p.Y246fs*3(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGGGACAACATCTACAAGT	0.582		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													uc002lrl.1		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	D|Mis|N|F|S	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		jejunal harmartoma|ovarian|testicular|pancreatic	NSCLC|pancreatic		23	Whole gene deletion(20)|Unknown(2)|Deletion - Frameshift(1)	p.0?(19)|p.?(2)|p.Y246fs*3(1)	cervix(14)|lung(5)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266						c.(775-777)AACfs		serine/threonine protein kinase 11							62.0	66.0	65.0					19																	1221254		1991	4137	6128	SO:0001589	frameshift_variant	6794	Peutz-Jeghers_syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1221254delC	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.777delC	19.37:g.1221254delC	ENSP00000324856:p.Asn259fs	TSP Lung(3;<1E-08)					p.N259fs	NM_000455	NP_000446	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1892	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	259			Protein kinase.		B2RBX7|E7EW76	Frame_Shift_Del	DEL	ENST00000326873.7	37	c.777delC	CCDS45896.1																																																																																				0.582	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		22	8	NA	NA	NA	NA	NA	22	8	---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22658718	22658718	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr21:22658718delC	ENST00000400546.1	+	4	716	c.467delC	c.(466-468)accfs	p.T157fs	NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000535285.1_Frame_Shift_Del_p.T182fs	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	157	Ig-like C2-type 2.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GAGGAAGTCACCACTATTTCC	0.383																																							uc002yld.1		NA																	0				ovary(4)	4						c.(466-468)ACCfs		neural cell adhesion molecule 2 precursor							130.0	121.0	124.0					21																	22658718		1995	4166	6161	SO:0001589	frameshift_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22658718delC		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.467delC	21.37:g.22658718delC	ENSP00000383392:p.Thr157fs					NCAM2_uc011acb.1_Intron|NCAM2_uc011acc.1_Frame_Shift_Del_p.T181fs	p.T156fs	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	4	716	+		Lung NSC(9;0.195)	156			Ig-like C2-type 2.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Frame_Shift_Del	DEL	ENST00000400546.1	37	c.467delC	CCDS42910.1																																																																																				0.383	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		8	47	NA	NA	NA	NA	NA	8	47	---	---	---	---
SBF1	6305	broad.mit.edu	37	22	50894982	50894982	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr22:50894982delG	ENST00000390679.3	-	29	4131	c.3947delC	c.(3946-3948)ccgfs	p.P1316fs	SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000348911.6_Frame_Shift_Del_p.P1317fs|SBF1_ENST00000380817.3_Frame_Shift_Del_p.P1342fs			O95248	MTMR5_HUMAN	SET binding factor 1	1316	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGAAGCCCGGGTCGGGAGG	0.711																																							uc003blh.2		NA																	0					0						c.(4024-4026)CCGfs		SET binding factor 1																																				SO:0001589	frameshift_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50894982delG	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3947delC	22.37:g.50894982delG	ENSP00000375097:p.Pro1316fs					SBF1_uc003ble.2_5'Flank|SBF1_uc003blf.2_5'Flank|SBF1_uc011arx.1_Frame_Shift_Del_p.P980fs	p.P1342fs	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	30	4220	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1316			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Frame_Shift_Del	DEL	ENST00000390679.3	37	c.4025delC																																																																																					0.711	SBF1-201	KNOWN	basic	protein_coding	protein_coding				2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
ALDH1L1	10840	broad.mit.edu	37	3	125836866	125836866	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr3:125836866delC	ENST00000393434.2	-	17	2313	c.1964delG	c.(1963-1965)ggcfs	p.G655fs	ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Frame_Shift_Del_p.G554fs|ALDH1L1_ENST00000273450.3_Frame_Shift_Del_p.G665fs|ALDH1L1_ENST00000472186.1_Frame_Shift_Del_p.G655fs	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	655	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GATGTGCTTGCCCACCTCTGT	0.632																																							uc003eim.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(1963-1965)GGCfs		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						72.0	65.0	67.0					3																	125836866		2203	4300	6503	SO:0001589	frameshift_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125836866delC	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1964delG	3.37:g.125836866delC	ENSP00000377083:p.Gly655fs					ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Frame_Shift_Del_p.G554fs|ALDH1L1_uc003ein.1_5'Flank	p.G655fs	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	17	2154	-			655			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Frame_Shift_Del	DEL	ENST00000393434.2	37	c.1964delG	CCDS3034.1																																																																																				0.632	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		18	30	NA	NA	NA	NA	NA	18	30	---	---	---	---
PCDH7	5099	broad.mit.edu	37	4	30921902	30921903	+	Frame_Shift_Ins	INS	-	-	A			TCGA-78-7159-01A-11D-2036-08	TCGA-78-7159-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9319083d-b3d1-48e5-b97f-71b162f9dc7c	c0161396-4ff4-460a-bb15-d3d3520b9194	g.chr4:30921902_30921903insA	ENST00000543491.1	+	2	3302_3303	c.3302_3303insA	c.(3301-3306)ccaagafs	p.R1102fs	PCDH7_ENST00000509925.1_3'UTR			O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TCATCAGGGCCAAGACTGGGTG	0.554																																							uc011bxx.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(3301-3303)CCAfs		protocadherin 7 isoform a precursor																																				SO:0001589	frameshift_variant	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30921902_30921903insA	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000543491.1:c.3304dupA	4.37:g.30921904_30921904dupA	ENSP00000441802:p.Arg1102fs					PCDH7_uc011bxw.1_Frame_Shift_Ins_p.P1054fs	p.P1101fs	NM_002589	NP_002580	O60245	PCDH7_HUMAN			2	4310_4311	+			Error:Variant_position_missing_in_O60245_after_alignment					O60246|O60247|Q4W5C4	Frame_Shift_Ins	INS	ENST00000543491.1	37	c.3302_3303insA	CCDS54753.1																																																																																				0.554	PCDH7-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032457, NM_002589		11	43	NA	NA	NA	NA	NA	11	43	---	---	---	---
