#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
PER3	8863	broad.mit.edu	37	1	7880644	7880644	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:7880644G>A	ENST00000361923.2	+	15	2052	c.1877G>A	c.(1876-1878)gGc>gAc	p.G626D	PER3_ENST00000377532.3_Missense_Mutation_p.G634D|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	626	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGGGTCGGGCATAAGCCAA	0.512																																						uc001aop.3																			0				breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1900-1902)gGc>gAc		Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.							90.0	73.0	79.0					1																	7880644		2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7880644G>A	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.1877G>A	1.37:g.7880644G>A	ENSP00000355031:p.Gly626Asp					PER3_uc009vmg.1_Missense_Mutation_p.G634D|PER3_uc009vmh.1_Missense_Mutation_p.G627D|PER3_uc001aoo.3_Missense_Mutation_p.G626D|PER3_uc010nzw.2_Missense_Mutation_p.G315D	p.G634D	NM_016831	NP_058515	P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	14	2125	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	626			CSNK1E binding domain (By similarity).		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.1901G>A	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536811	0.27475	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.09630	2.96;2.97	4.2	-0.834	0.10779	.	0.389304	0.25701	N	0.028867	T	0.04952	0.0133	N	0.17474	0.49	0.09310	N	1	B;B;B;B	0.26775	0.159;0.04;0.067;0.159	B;B;B;B	0.22880	0.039;0.031;0.042;0.039	T	0.28650	-1.0037	10	0.62326	D	0.03	.	3.7713	0.08643	0.0984:0.4669:0.2106:0.2241	.	626;634;634;626	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	D	634;626	ENSP00000366755:G634D;ENSP00000355031:G626D	ENSP00000355031:G626D	G	+	2	0	PER3	7803231	0.868000	0.29978	0.003000	0.11579	0.106000	0.19336	1.113000	0.31184	0.006000	0.14734	0.555000	0.69702	GGC		0.512	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831	
HNRNPCL1	343069	broad.mit.edu	37	1	12907821	12907821	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:12907821A>T	ENST00000317869.6	-	2	547	c.322T>A	c.(322-324)Tct>Act	p.S108T		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	108						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						AAGTCAAAAGAGGAGCCGTAC	0.493																																						uc010obf.2																			0											c.(322-324)Tct>Act		Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.							106.0	102.0	103.0					1																	12907821		2203	4300	6503	SO:0001583	missense	649330						nucleic acid binding|nucleotide binding	g.chr1:12907821A>T	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.322T>A	1.37:g.12907821A>T	ENSP00000365370:p.Ser108Thr					LOC649330_uc009vno.2_Missense_Mutation_p.S108T	p.S108T	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN			1	548	-			108					B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.322T>A	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	13.73	2.323281	0.41096	.	.	ENSG00000179172	ENST00000317869	T	0.10763	2.84	1.09	1.09	0.20402	.	0.306916	0.25091	U	0.033219	T	0.09158	0.0226	L	0.61387	1.9	0.39101	D	0.961293	B	0.28998	0.23	B	0.26864	0.074	T	0.14282	-1.0478	10	0.23302	T	0.38	.	4.4071	0.11414	1.0:0.0:0.0:0.0	.	108	O60812	HNRCL_HUMAN	T	108	ENSP00000365370:S108T	ENSP00000365370:S108T	S	-	1	0	HNRNPCL1	12830408	1.000000	0.71417	0.963000	0.40424	0.057000	0.15508	0.927000	0.28818	0.759000	0.33084	0.341000	0.21757	TCT		0.493	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631	
HPCAL4	51440	broad.mit.edu	37	1	40150150	40150150	+	Silent	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:40150150G>A	ENST00000372844.3	-	2	517	c.126C>T	c.(124-126)atC>atT	p.I42I		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	42	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCAGGTTGAGGATGCCGCTGG	0.627																																						uc001cdr.3																			0				breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8						c.(124-126)atC>atT		Homo sapiens hippocalcin like 4 (HPCAL4), mRNA.							64.0	53.0	57.0					1																	40150150		2203	4300	6503	SO:0001819	synonymous_variant	51440				central nervous system development	intracellular	calcium ion binding	g.chr1:40150150G>A	AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"""EF-hand domain containing"""	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.126C>T	1.37:g.40150150G>A						HPCAL4_uc010oix.2_Silent_p.I42I	p.I42I	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		1	246	-	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	42			EF-hand 1.		B2R5U2|D3DPU1|Q5TG97|Q8N611	Silent	SNP	ENST00000372844.3	37	c.126C>T	CCDS441.1																																																																																				0.627	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025640.1	NM_016257	
ELTD1	64123	broad.mit.edu	37	1	79383365	79383365	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:79383365T>C	ENST00000370742.3	-	12	1766	c.1703A>G	c.(1702-1704)aAc>aGc	p.N568S		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	568					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AATAAAGTTGTTTTCGGTGCT	0.279																																						uc001diq.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(1702-1704)aAc>aGc		Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.							59.0	56.0	57.0					1																	79383365		1804	4066	5870	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79383365T>C	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1703A>G	1.37:g.79383365T>C	ENSP00000359778:p.Asn568Ser						p.N568S	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	11	1859	-			568					B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.1703A>G	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.163770	0.78226	.	.	ENSG00000162618	ENST00000370742;ENST00000401034	T;T	0.41065	1.01;1.01	5.74	5.74	0.90152	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.40247	0.1109	L	0.42581	1.335	0.80722	D	1	P	0.42908	0.793	P	0.53988	0.739	T	0.14615	-1.0466	9	.	.	.	.	16.0347	0.80617	0.0:0.0:0.0:1.0	.	568	Q9HBW9	ELTD1_HUMAN	S	568;26	ENSP00000359778:N568S;ENSP00000383813:N26S	.	N	-	2	0	ELTD1	79155953	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.698000	0.84413	2.194000	0.70268	0.459000	0.35465	AAC		0.279	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159	
PIK3C2B	5287	broad.mit.edu	37	1	204438072	204438072	+	Frame_Shift_Del	DEL	G	G	-	rs115574296		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:204438072delG	ENST00000367187.3	-	3	1415	c.859delC	c.(859-861)cgcfs	p.R287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Del_p.R287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCATAGGTGCGGGGGGGCACC	0.622																																						uc001haw.3																			1	Deletion - Frameshift(1)	p.R287fs*92(2)	lung(1)	breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(859-861)cgcfs		Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.							57.0	65.0	62.0					1																	204438072		2203	4300	6503	SO:0001589	frameshift_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204438072delG	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.859delC	1.37:g.204438072delG	ENSP00000356155:p.Arg287fs					PIK3C2B_uc010pqv.2_Frame_Shift_Del_p.R287fs|PIK3C2B_uc001hax.1_Frame_Shift_Del_p.R287fs|PIK3C2B_uc009xbd.1_Non-coding_Transcript	p.R287fs	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		2	1338	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		287			Interaction with GRB2.		O95666|Q5SW99	Frame_Shift_Del	DEL	ENST00000367187.3	37	c.859delC	CCDS1446.1																																																																																				0.622	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646	
SLC26A9	115019	broad.mit.edu	37	1	205890886	205890886	+	Silent	SNP	G	G	A	rs375116397		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:205890886G>A	ENST00000367135.3	-	17	1976	c.1863C>T	c.(1861-1863)agC>agT	p.S621S	SLC26A9_ENST00000367134.2_Silent_p.S621S|SLC26A9_ENST00000340781.4_Silent_p.S621S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	621	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TATAGGACACGCTGGTGCCGT	0.642																																						uc001hdp.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(1861-1863)agC>agT		Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.		G	,	1,4403		0,1,2201	112.0	88.0	96.0		1863,1863	-1.0	0.1	1		96	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	SLC26A9	NM_052934.3,NM_134325.2	,	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	,	621/792,621/888	205890886	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205890886G>A	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1863C>T	1.37:g.205890886G>A						SLC26A9_uc001hdo.3_Silent_p.S289S|SLC26A9_uc001hdq.3_Silent_p.S621S	p.S621S	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		16	1977	-	Breast(84;0.201)		621			STAS.		A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	ENST00000367135.3	37	c.1863C>T	CCDS30990.1																																																																																				0.642	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934	
WDR64	128025	broad.mit.edu	37	1	241959665	241959665	+	Missense_Mutation	SNP	G	G	A	rs185903348		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:241959665G>A	ENST00000366552.2	+	26	3362	c.3155G>A	c.(3154-3156)cGt>cAt	p.R1052H	WDR64_ENST00000437684.2_Missense_Mutation_p.R885H	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1052										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CATGTTCAACGTGAAAAAGTA	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		16167	0.0		0.001	False		,,,				2504	0.0					uc001hzg.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3154-3156)cGt>cAt		Homo sapiens WD repeat domain 64 (WDR64), mRNA.							82.0	79.0	80.0					1																	241959665		2203	4300	6503	SO:0001583	missense	128025							g.chr1:241959665G>A	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.3155G>A	1.37:g.241959665G>A	ENSP00000355510:p.Arg1052His					WDR64_uc021plh.1_Missense_Mutation_p.R679H|WDR64_uc021pli.1_Missense_Mutation_p.R605H	p.R1052H	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		25	3362	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	1052					B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.3155G>A		1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	0.006|0.006	-2.099010|-2.099010	0.00360|0.00360	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635|ENST00000425826	T;T;T|.	0.38240|.	1.37;1.15;1.15|.	4.1|4.1	0.168|0.168	0.15012|0.15012	.|.	0.511841|.	0.17962|.	N|.	0.156140|.	T|T	0.07728|0.07728	0.0194|0.0194	N|N	0.01267|0.01267	-0.92|-0.92	0.20764|0.20764	N|N	0.999859|0.999859	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.31530|0.31530	-0.9940|-0.9940	10|5	0.06099|.	T|.	0.92|.	-0.5393|-0.5393	1.1911|1.1911	0.01865|0.01865	0.5203:0.1903:0.1059:0.1835|0.5203:0.1903:0.1059:0.1835	.|.	1052;605|.	B1ANS9;D1MPS4|.	WDR64_HUMAN;.|.	H|M	1052;885;656|531	ENSP00000355510:R1052H;ENSP00000402446:R885H;ENSP00000406656:R656H|.	ENSP00000355510:R1052H|.	R|V	+|+	2|1	0|0	WDR64|WDR64	240026288|240026288	0.998000|0.998000	0.40836|0.40836	0.928000|0.928000	0.36995|0.36995	0.041000|0.041000	0.13682|0.13682	2.370000|2.370000	0.44240|0.44240	-0.069000|-0.069000	0.12931|0.12931	-0.339000|-0.339000	0.08088|0.08088	CGT|GTG		0.378	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625	
OR51B6	390058	broad.mit.edu	37	11	5373571	5373571	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:5373571C>A	ENST00000380219.1	+	1	834	c.834C>A	c.(832-834)caC>caA	p.H278Q	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	278					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTACATCCACTTCCTTTTCC	0.398																																						uc010qzb.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(832-834)caC>caA		Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.							179.0	166.0	170.0					11																	5373571		2201	4297	6498	SO:0001583	missense	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5373571C>A		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.834C>A	11.37:g.5373571C>A	ENSP00000369568:p.His278Gln					HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	p.H278Q	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	834	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	278						Missense_Mutation	SNP	ENST00000380219.1	37	c.834C>A	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356660	0.41801	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.00084	8.75	5.13	1.89	0.25635	GPCR, rhodopsin-like superfamily (1);	0.277746	0.25789	N	0.028284	T	0.00271	0.0008	M	0.74467	2.265	0.20821	N	0.999846	B	0.33318	0.408	P	0.46299	0.511	T	0.12967	-1.0527	10	0.87932	D	0	.	7.5299	0.27677	0.0:0.6097:0.0:0.3903	.	278	Q9H340	O51B6_HUMAN	Q	277;278	ENSP00000369568:H278Q	ENSP00000369568:H278Q	H	+	3	2	OR51B6	5330147	0.000000	0.05858	0.111000	0.21465	0.786000	0.44442	0.043000	0.13971	0.200000	0.20447	0.650000	0.86243	CAC		0.398	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750	
ADM	133	broad.mit.edu	37	11	10327296	10327296	+	Silent	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:10327296C>T	ENST00000528655.1	+	1	666	c.49C>T	c.(49-51)Cta>Tta	p.L17L	ADM_ENST00000528544.1_Silent_p.L17L|ADM_ENST00000525063.1_Silent_p.L17L|ADM_ENST00000530439.1_5'UTR|ADM_ENST00000526492.1_Silent_p.L17L|RP11-351I24.1_ENST00000526906.1_RNA|ADM_ENST00000278175.5_Silent_p.L17L|ADM_ENST00000534464.1_5'UTR|ADM_ENST00000524948.1_Silent_p.L17L			P35318	ADML_HUMAN	adrenomedullin	17					aging (GO:0007568)|androgen metabolic process (GO:0008209)|blood circulation (GO:0008015)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cAMP biosynthetic process (GO:0006171)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|developmental growth (GO:0048589)|female pregnancy (GO:0007565)|G-protein coupled receptor internalization (GO:0002031)|heart development (GO:0007507)|hormone secretion (GO:0046879)|negative regulation of cell proliferation (GO:0008285)|negative regulation of vascular permeability (GO:0043116)|negative regulation of vasoconstriction (GO:0045906)|neural tube closure (GO:0001843)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of vasculogenesis (GO:2001214)|positive regulation of vasodilation (GO:0045909)|progesterone biosynthetic process (GO:0006701)|receptor internalization (GO:0031623)|regulation of the force of heart contraction (GO:0002026)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|spongiotrophoblast layer development (GO:0060712)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GCTCGCCTTCCTAGGCGCTGA	0.612																																						uc001mil.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(49-51)Cta>Tta		Homo sapiens adrenomedullin (ADM), mRNA.							88.0	81.0	83.0					11																	10327296		2201	4294	6495	SO:0001819	synonymous_variant	133				blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity	g.chr11:10327296C>T	D14874	CCDS7801.1	11p15.4	2013-02-25			ENSG00000148926	ENSG00000148926		"""Endogenous ligands"""	259	protein-coding gene	gene with protein product		103275				7688224	Standard	NM_001124		Approved	AM	uc001mil.1	P35318	OTTHUMG00000165907	ENST00000528655.1:c.49C>T	11.37:g.10327296C>T							p.L17L	NM_001124	NP_001115	P35318	ADML_HUMAN		all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)	1	205	+			17					B2R793|D3DQV3|Q6FGW2	Silent	SNP	ENST00000528655.1	37	c.49C>T	CCDS7801.1																																																																																				0.612	ADM-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387008.1	NM_001124	
CHST1	8534	broad.mit.edu	37	11	45671304	45671304	+	Silent	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:45671304C>T	ENST00000308064.2	-	4	1840	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	390					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCTCCTCCTCCGAGGCGGCGA	0.692																																						uc021qgn.1																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42						c.(1168-1170)tcG>tcA		Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.							43.0	47.0	45.0					11																	45671304		2202	4297	6499	SO:0001819	synonymous_variant	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671304C>T	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.1170G>A	11.37:g.45671304C>T						CHST1_uc001mys.2_Silent_p.S390S	p.S390S	NM_003654	NP_003645	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	0	1170	-			390					D3DQP2	Silent	SNP	ENST00000308064.2	37	c.1170G>A	CCDS7913.1																																																																																				0.692	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654	
OR4P4	81300	broad.mit.edu	37	11	55406609	55406609	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:55406609C>T	ENST00000314612.2	+	1	776	c.776C>T	c.(775-777)cCg>cTg	p.P259L		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TACATTAGACCGGTCACAACA	0.418																																						uc010rij.2																			0		p.R258I(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(775-777)cCg>cTg		Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.							205.0	155.0	173.0					11																	55406609		2182	4035	6217	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406609C>T	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.776C>T	11.37:g.55406609C>T	ENSP00000324831:p.Pro259Leu						p.P259L	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			0	776	+			259						Missense_Mutation	SNP	ENST00000314612.2	37	c.776C>T	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313311	0.40996	.	.	ENSG00000181927	ENST00000314612	T	0.00279	8.33	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	N	0.001046	T	0.00608	0.0020	M	0.91038	3.17	0.44194	D	0.997011	P	0.42161	0.772	P	0.47102	0.537	T	0.64989	-0.6277	10	0.87932	D	0	-8.4927	16.9274	0.86180	0.0:1.0:0.0:0.0	.	259	Q8NGL7	OR4P4_HUMAN	L	259	ENSP00000324831:P259L	ENSP00000324831:P259L	P	+	2	0	OR4P4	55163185	0.018000	0.18449	0.899000	0.35326	0.136000	0.21042	1.440000	0.35024	2.575000	0.86900	0.637000	0.83480	CCG		0.418	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124	
OR5D13	390142	broad.mit.edu	37	11	55541762	55541762	+	Silent	SNP	G	G	A	rs150209335	byFrequency	TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:55541762G>A	ENST00000361760.1	+	1	849	c.849G>A	c.(847-849)gcG>gcA	p.A283A		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A283A(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ACACAGTGGCGATTCCAATGC	0.363													G|||	2	0.000399361	0.0015	0.0	5008	,	,		719	0.0		0.0	False		,,,				2504	0.0					uc010ril.2																			1	Substitution - coding silent(1)	p.A283A(2)	large_intestine(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(847-849)gcG>gcA		Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.		G		5,4395	11.4+/-27.6	0,5,2195	79.0	66.0	71.0		849	1.6	0.1	11	dbSNP_134	71	2,8590	2.2+/-6.3	0,2,4294	no	coding-synonymous	OR5D13	NM_001001967.1		0,7,6489	AA,AG,GG		0.0233,0.1136,0.0539		283/315	55541762	7,12985	2200	4296	6496	SO:0001819	synonymous_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541762G>A	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.849G>A	11.37:g.55541762G>A							p.A283A	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			0	849	+		all_epithelial(135;0.196)	283					Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	c.849G>A	CCDS31507.1																																																																																				0.363	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967	
OR6Q1	219952	broad.mit.edu	37	11	57798597	57798597	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:57798597G>A	ENST00000302622.3	+	1	196	c.173G>A	c.(172-174)cGg>cAg	p.R58Q	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CACCGACTACGGAGACCCATG	0.483																																						uc010rjz.2																			0				biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(172-174)cGg>cAg		Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.							215.0	204.0	208.0					11																	57798597		2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57798597G>A	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.173G>A	11.37:g.57798597G>A	ENSP00000307734:p.Arg58Gln					OR9Q1_uc001nmj.3_Intron	p.R58Q	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN			0	173	+		Breast(21;0.0707)|all_epithelial(135;0.142)	58					B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.173G>A	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	G	5.404	0.259703	0.10239	.	.	ENSG00000172381	ENST00000302622	T	0.03004	4.08	4.8	-5.69	0.02428	GPCR, rhodopsin-like superfamily (1);	1.674520	0.03852	N	0.272426	T	0.01695	0.0054	N	0.00811	-1.165	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48581	-0.9023	10	0.59425	D	0.04	.	14.4019	0.67053	0.728:0.0:0.272:0.0	.	58	Q8NGQ2	OR6Q1_HUMAN	Q	58	ENSP00000307734:R58Q	ENSP00000307734:R58Q	R	+	2	0	OR6Q1	57555173	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	0.086000	0.14935	-1.095000	0.03050	-1.662000	0.00750	CGG		0.483	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186	
OOSP2	219990	broad.mit.edu	37	11	59807922	59807922	+	5'UTR	SNP	C	C	T	rs375512065		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:59807922C>T	ENST00000278855.2	+	0	175				PLAC1L_ENST00000532905.1_5'Flank	NM_173801.3	NP_776162.2	Q86WS3	OOSP2_HUMAN								extracellular region (GO:0005576)				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						TCTGCTCAGACGAAGGTCTCC	0.473																																						uc001nol.3																			0				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15								Homo sapiens placenta-specific 1-like (PLAC1L), mRNA.		C		0,4402		0,0,2201	184.0	159.0	167.0			0.2	0.0	11		167	4,8586	3.7+/-12.6	0,4,4291	no	utr-5	PLAC1L	NM_173801.3		0,4,6492	TT,TC,CC		0.0466,0.0,0.0308			59807922	4,12988	2201	4295	6496	SO:0001623	5_prime_UTR_variant	219990					extracellular region		g.chr11:59807922C>T																												ENST00000278855.2:c.-11C>T	11.37:g.59807922C>T								NM_173801	NP_776162	Q86WS3	PLACL_HUMAN			0		+								E9PJA4|Q8N9U6	Translation_Start_Site	SNP	ENST00000278855.2	37		CCDS7979.1																																																																																				0.473	PLAC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394411.1		
SLC22A11	55867	broad.mit.edu	37	11	64329558	64329558	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:64329558G>A	ENST00000301891.4	+	3	954	c.580G>A	c.(580-582)Gtc>Atc	p.V194I	SLC22A11_ENST00000377585.3_Missense_Mutation_p.V194I|SLC22A11_ENST00000377581.3_Missense_Mutation_p.V194I|SLC22A11_ENST00000490834.1_3'UTR	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	194					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	CCCAACATTCGTCATCTACTG	0.622											OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001oai.3																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(580-582)Gtc>Atc		Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	Probenecid(DB01032)						61.0	55.0	57.0					11																	64329558		2201	4297	6498	SO:0001583	missense	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64329558G>A	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.580G>A	11.37:g.64329558G>A	ENSP00000301891:p.Val194Ile		OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1075	SLC22A11_uc001oah.1_Missense_Mutation_p.R159H|SLC22A11_uc009ypq.3_Missense_Mutation_p.V194I|SLC22A11_uc001oak.1_Missense_Mutation_p.V23I	p.V194I	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN			2	954	+			194					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	c.580G>A	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	.	2.723	-0.266237	0.05754	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.73681	-0.77;-0.77;-0.77	3.29	-6.58	0.01836	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.296140	0.05399	N	0.540338	T	0.40956	0.1138	N	0.05487	-0.04	0.09310	N	1	B;P;B	0.42161	0.356;0.772;0.409	B;B;B	0.34418	0.073;0.182;0.12	T	0.47812	-0.9088	10	0.21014	T	0.42	.	0.8835	0.01239	0.2276:0.1735:0.3448:0.254	.	194;194;194	Q9NSA0-2;A6NCG2;Q9NSA0	.;.;S22AB_HUMAN	I	194	ENSP00000301891:V194I;ENSP00000366809:V194I;ENSP00000366804:V194I	ENSP00000301891:V194I	V	+	1	0	SLC22A11	64086134	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.252000	0.00137	-1.811000	0.01229	-2.766000	0.00121	GTC		0.622	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484	
RAB38	23682	broad.mit.edu	37	11	87847172	87847172	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:87847172C>A	ENST00000243662.6	-	3	702	c.620G>T	c.(619-621)gGc>gTc	p.G207V	RP11-164N3.3_ENST00000528458.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	207					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTTGGCACAGCCAGAGCAGCT	0.473																																						uc001pcj.2																			0				large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(619-621)gGc>gTc		Homo sapiens RAB38, member RAS oncogene family (RAB38), mRNA.							128.0	120.0	123.0					11																	87847172		2201	4299	6500	SO:0001583	missense	23682				protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	g.chr11:87847172C>A	AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"""RAB, member RAS oncogene"""	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.620G>T	11.37:g.87847172C>A	ENSP00000243662:p.Gly207Val						p.G207V	NM_022337	NP_071732	P57729	RAB38_HUMAN			2	703	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	207					Q53XK7	Missense_Mutation	SNP	ENST00000243662.6	37	c.620G>T	CCDS8281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.127|8.127	0.782173|0.782173	0.16189|0.16189	.|.	.|.	ENSG00000123892|ENSG00000123892	ENST00000243662|ENST00000526372	T|.	0.70045|.	-0.45|.	5.47|5.47	4.54|4.54	0.55810|0.55810	.|.	0.562928|.	0.21009|.	N|.	0.081713|.	T|T	0.32285|0.32285	0.0824|0.0824	N|N	0.08118|0.08118	0|0	0.53005|0.53005	D|D	0.999961|0.999961	B|.	0.15930|.	0.015|.	B|.	0.15484|.	0.013|.	T|T	0.09684|0.09684	-1.0663|-1.0663	9|5	.|.	.|.	.|.	-9.4445|-9.4445	7.2527|7.2527	0.26158|0.26158	0.0:0.7375:0.1731:0.0894|0.0:0.7375:0.1731:0.0894	.|.	207|.	P57729|.	RAB38_HUMAN|.	V|C	207|205	ENSP00000243662:G207V|.	.|.	G|W	-|-	2|3	0|0	RAB38|RAB38	87486820|87486820	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.182000|0.182000	0.23217|0.23217	3.803000|3.803000	0.55560|0.55560	2.724000|2.724000	0.93272|0.93272	0.650000|0.650000	0.86243|0.86243	GGC|TGG		0.473	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2		
CCND2	894	broad.mit.edu	37	12	4409083	4409083	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr12:4409083C>T	ENST00000261254.3	+	5	1047	c.778C>T	c.(778-780)Cag>Tag	p.Q260*		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	260					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)			TAGCCTGCAGCAGTACCGTCA	0.542			T	IGL@	"""NHL,CLL"""																																	uc001qmo.3				Dom	yes		12	12p13	894	T	cyclin D2			L	IGL@		"""NHL,CLL"""		0				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						c.(778-780)Cag>Tag		Homo sapiens cyclin D2 (CCND2), mRNA.							106.0	89.0	95.0					12																	4409083		2203	4300	6503	SO:0001587	stop_gained	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.chr12:4409083C>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.778C>T	12.37:g.4409083C>T	ENSP00000261254:p.Gln260*						p.Q260*	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)		4	1083	+			260					A8K531|Q13955|Q5U035	Nonsense_Mutation	SNP	ENST00000261254.3	37	c.778C>T	CCDS8524.1	.	.	.	.	.	.	.	.	.	.	C	38	7.034117	0.98017	.	.	ENSG00000118971	ENST00000261254	.	.	.	4.94	4.94	0.65067	.	0.115998	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	17.1948	0.86890	0.0:1.0:0.0:0.0	.	.	.	.	X	260	.	ENSP00000261254:Q260X	Q	+	1	0	CCND2	4279344	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	1.994000	0.40757	2.298000	0.77334	0.563000	0.77884	CAG		0.542	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759	
DDX12P	440081	broad.mit.edu	37	12	9571427	9571427	+	IGR	SNP	G	G	A	rs150028727		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr12:9571427G>A								RP13-735L24.1 (21214 upstream) : SNORA75 (26226 downstream)																							ACGCGGGCTCGGATCCAGGCC	0.617													.|||	47	0.00938498	0.0348	0.0014	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					uc001qvy.1																			0													Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.		A		35,1345		3,29,658	44.0	55.0	52.0			0.2	0.9	12	dbSNP_134	52	0,3182		0,0,1591	no	intergenic				3,29,2249	AA,AG,GG		0.0,2.5362,0.7672			9571427	35,4527	690	1591	2281	SO:0001628	intergenic_variant	440081							g.chr12:9571427G>A																													12.37:g.9571427G>A						DDX12P_uc001qvx.4_Non-coding_Transcript								2		-									Nonsense_Mutation	SNP		37																																																																																					0	0.617								
PRPF40B	25766	broad.mit.edu	37	12	50030609	50030609	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr12:50030609C>T	ENST00000380281.1	+	15	1535	c.1471C>T	c.(1471-1473)Cgc>Tgc	p.R491C	PRPF40B_ENST00000261897.1_Missense_Mutation_p.R485C|FMNL3_ENST00000550668.1_5'Flank|PRPF40B_ENST00000548825.2_Missense_Mutation_p.R513C			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	491	FF 4.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						ACGCCAACAACGCAAGAATCG	0.577											OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rur.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(1471-1473)Cgc>Tgc		Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.							104.0	102.0	102.0					12																	50030609		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50030609C>T	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1471C>T	12.37:g.50030609C>T	ENSP00000369634:p.Arg491Cys		OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	966	PRPF40B_uc001rup.1_Missense_Mutation_p.R513C|PRPF40B_uc001ruq.1_Missense_Mutation_p.R485C|PRPF40B_uc001rus.1_Missense_Mutation_p.R434C	p.R491C	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN			14	1534	+			491					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.1471C>T		.	.	.	.	.	.	.	.	.	.	C	33	5.219827	0.95139	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.59083	0.29;0.3	4.86	4.86	0.63082	FF domain (2);	0.000000	0.64402	D	0.000004	T	0.78000	0.4215	M	0.83384	2.64	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	0.79690	-0.1698	9	.	.	.	-10.3045	17.2809	0.87128	0.0:1.0:0.0:0.0	.	491;485;491	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	C	485;491	ENSP00000261897:R485C;ENSP00000369634:R491C	.	R	+	1	0	PRPF40B	48316876	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.447000	0.80620	2.704000	0.92352	0.655000	0.94253	CGC		0.577	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272	
LEMD3	23592	broad.mit.edu	37	12	65564282	65564282	+	Silent	SNP	C	C	A	rs376059733		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr12:65564282C>A	ENST00000308330.2	+	1	932	c.906C>A	c.(904-906)gcC>gcA	p.A302A	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	302					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		CTAAATCGGCCGGCGGCAGGC	0.622																																						uc001ssl.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36						c.(904-906)gcC>gcA		Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.							24.0	28.0	27.0					12																	65564282		2201	4297	6498	SO:0001819	synonymous_variant	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65564282C>A	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.906C>A	12.37:g.65564282C>A						LEMD3_uc009zqo.2_Silent_p.A302A	p.A302A	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	0	932	+			302					Q9NT47|Q9NYA5	Silent	SNP	ENST00000308330.2	37	c.906C>A	CCDS8972.1																																																																																				0.622	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2		
GLT1D1	144423	broad.mit.edu	37	12	129360521	129360521	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr12:129360521G>A	ENST00000442111.2	+	2	219	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	GLT1D1_ENST00000537468.1_Missense_Mutation_p.R33Q|GLT1D1_ENST00000281703.6_Missense_Mutation_p.R44Q|GLT1D1_ENST00000542193.1_5'UTR			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	44					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TTTGAAAGCCGATCTGAGATT	0.488																																						uc010tbh.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(97-99)cGa>cAa		Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.							164.0	165.0	164.0					12																	129360521		2203	4300	6503	SO:0001583	missense	144423				biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	g.chr12:129360521G>A		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.131G>A	12.37:g.129360521G>A	ENSP00000394692:p.Arg44Gln					GLT1D1_uc001uhx.1_Missense_Mutation_p.R44Q|GLT1D1_uc001uhy.1_Non-coding_Transcript	p.R33Q	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	1	107	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		44					Q86XG8	Missense_Mutation	SNP	ENST00000442111.2	37	c.98G>A		.	.	.	.	.	.	.	.	.	.	C	14.86	2.662438	0.47572	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468	T;T;T	0.79454	-1.27;1.01;1.01	5.54	4.64	0.57946	.	0.426948	0.25817	N	0.028105	T	0.55097	0.1899	N	0.08118	0	0.25293	N	0.989345	B;B	0.32653	0.379;0.001	B;B	0.28709	0.093;0.0	T	0.41270	-0.9518	10	0.17832	T	0.49	-2.0878	10.9997	0.47598	0.1464:0.7132:0.1404:0.0	.	33;44	F5H088;Q96MS3-2	.;.	Q	44;44;33	ENSP00000394692:R44Q;ENSP00000281703:R44Q;ENSP00000438158:R33Q	ENSP00000281703:R44Q	R	+	2	0	GLT1D1	127926474	0.036000	0.19791	0.041000	0.18516	0.186000	0.23388	1.054000	0.30455	0.680000	0.31366	-0.120000	0.15030	CGA		0.488	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669	
F7	2155	broad.mit.edu	37	13	113771870	113771870	+	Silent	SNP	C	C	T	rs376480781		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr13:113771870C>T	ENST00000375581.3	+	8	800	c.765C>T	c.(763-765)ttC>ttT	p.F255F	F7_ENST00000541084.1_Silent_p.F186F|F7_ENST00000346342.3_Silent_p.F233F	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	255	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CCCACTGTTTCGACAAAATCA	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16808	0.0		0.0	False		,,,				2504	0.0					uc001vsv.3																			0				large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(763-765)ttC>ttT		Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	C	,	0,4406		0,0,2203	169.0	158.0	162.0		765,699	-0.4	0.7	13		162	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	F7	NM_000131.3,NM_019616.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	255/467,233/445	113771870	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113771870C>T		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.765C>T	13.37:g.113771870C>T						F7_uc001vsw.3_Silent_p.F233F|F7_uc010tjt.2_Silent_p.F186F	p.F255F	NM_000131	NP_000122	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		7	816	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	255			Peptidase S1.		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Silent	SNP	ENST00000375581.3	37	c.765C>T	CCDS9528.1																																																																																				0.622	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131	
STYX	6815	broad.mit.edu	37	14	53217446	53217446	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr14:53217446C>T	ENST00000354586.4	+	4	483	c.190C>T	c.(190-192)Cga>Tga	p.R64*	STYX_ENST00000442123.2_Nonsense_Mutation_p.R64*|STYX_ENST00000556861.1_Intron	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	64					MAPK export from nucleus (GO:0045204)|protein dephosphorylation (GO:0006470)|regulation of ERK1 and ERK2 cascade (GO:0070372)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					AATATGCATACGACAAAATAT	0.289																																						uc010tqy.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(190-192)Cga>Tga		Homo sapiens serine/threonine/tyrosine interacting protein (STYX), transcript variant 2, mRNA.							80.0	83.0	82.0					14																	53217446		2202	4290	6492	SO:0001587	stop_gained	6815				protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity	g.chr14:53217446C>T		CCDS9711.1	14q22.1	2011-06-09	2001-11-29		ENSG00000198252	ENSG00000198252		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	11447	protein-coding gene	gene with protein product		615814	"""serine/threonine/tyrosine-interacting protein"""			7592916	Standard	NM_145251		Approved		uc010tqy.2	Q8WUJ0	OTTHUMG00000140306	ENST00000354586.4:c.190C>T	14.37:g.53217446C>T	ENSP00000346599:p.Arg64*					STYX_uc001xaa.3_Nonsense_Mutation_p.R64*	p.R64*	NM_001130701	NP_660294	Q8WUJ0	STYX_HUMAN			4	252	+	Breast(41;0.176)		64					B9EJG0|Q99850	Nonsense_Mutation	SNP	ENST00000354586.4	37	c.190C>T	CCDS9711.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740019	0.89573	.	.	ENSG00000198252	ENST00000442123;ENST00000354586	.	.	.	5.48	2.14	0.27477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	9.5247	0.39158	0.3807:0.523:0.0:0.0964	.	.	.	.	X	64	.	ENSP00000346599:R64X	R	+	1	2	STYX	52287196	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.329000	0.43876	0.150000	0.19136	-0.253000	0.11424	CGA		0.289	STYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276902.1	NM_145251	
UNC79	57578	broad.mit.edu	37	14	94109960	94109960	+	Silent	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr14:94109960C>T	ENST00000393151.2	+	35	6078	c.6078C>T	c.(6076-6078)gcC>gcT	p.A2026A	UNC79_ENST00000555664.1_Silent_p.A1987A|UNC79_ENST00000553484.1_Silent_p.A2048A|UNC79_ENST00000256339.4_Silent_p.A1849A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2026					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTGGGCTAGCCATCGTGGTCC	0.498																																						uc001ybv.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(5611-5613)gcC>gcT		Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.							161.0	135.0	144.0					14																	94109960		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94109960C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6078C>T	14.37:g.94109960C>T						UNC79_uc001ybs.1_Silent_p.A1849A	p.A1871A	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN			32	5696	+			2026					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.5613C>T																																																																																					0.498	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
AHNAK2	113146	broad.mit.edu	37	14	105418809	105418809	+	Silent	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr14:105418809G>A	ENST00000333244.5	-	7	3098	c.2979C>T	c.(2977-2979)gcC>gcT	p.A993A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	993						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCTGTCTTTGGCAGTCACGT	0.602																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2977-2979)gcC>gcT		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							260.0	282.0	275.0					14																	105418809		2005	4168	6173	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105418809G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2979C>T	14.37:g.105418809G>A						AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.A893A	p.A993A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	3099	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	993					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.2979C>T	CCDS45177.1																																																																																				0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
GOLGA8DP	100132979	broad.mit.edu	37	15	22709152	22709152	+	RNA	SNP	G	G	T	rs368651947		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr15:22709152G>T	ENST00000314246.8	-	0	1244				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											GGCCTGGAGCGCTCCTGCCAC	0.607																																						uc010axw.2																			0											c.(346-348)gCg>gAg		Homo sapiens golgin A8 family, member D, pseudogene (GOLGA8DP), non-coding RNA.																																						100132979							g.chr15:22709152G>T			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709152G>T						abParts_uc001yuj.2_Intron|GOLGA8DP_uc010axx.2_Missense_Mutation_p.A116E|DQ588687_uc010tzw.1_5'Flank|DQ582939_uc021sfj.1_5'Flank	p.A116E							10	1245	-									Missense_Mutation	SNP	ENST00000314246.8	37	c.347C>A		.	.	.	.	.	.	.	.	.	.	G	0.253	-1.005164	0.02112	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.887	-0.534	0.11883	.	.	.	.	.	T	0.14917	0.0360	.	.	.	0.22629	N	0.99892	B	0.06786	0.001	B	0.08055	0.003	T	0.39461	-0.9613	6	0.02654	T	1	.	4.9893	0.14205	0.0:0.0:0.3107:0.6893	.	116	F8WBT8	.	E	116;116;334	.	ENSP00000327024:A116E	A	-	2	0	AC116165.1	20260516	0.948000	0.32251	0.006000	0.13384	0.011000	0.07611	0.915000	0.28638	-0.149000	0.11215	-1.606000	0.00808	GCG		0.607	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407	
SYNM	23336	broad.mit.edu	37	15	99671205	99671205	+	Silent	SNP	C	C	T	rs376601188		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr15:99671205C>T	ENST00000560674.1	+	4	2251	c.1782C>T	c.(1780-1782)gaC>gaT	p.D594D	SYNM_ENST00000328642.7_Silent_p.D879D|SYNM_ENST00000336292.6_Silent_p.D879D|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	880	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CACAGAAGGACGGTGCAGTGG	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		17126	0.0		0.0	False		,,,				2504	0.001				Pancreas(125;1071 1762 21750 40003 40381)	uc002bup.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(2635-2637)gaC>gaT		Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.		C	,	1,4171		0,1,2085	56.0	61.0	59.0		2639,2639	-9.1	0.0	15		59	1,8403		0,1,4201	no	coding-synonymous,coding-synonymous	SYNM	NM_015286.5,NM_145728.2	,	0,2,6286	TT,TC,CC		0.0119,0.024,0.0159	,	880/1254,880/1566	99671205	2,12574	2086	4202	6288	SO:0001819	synonymous_variant	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99671205C>T	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.1782C>T	15.37:g.99671205C>T						SYNM_uc002buo.3_Silent_p.D879D|SYNM_uc002buq.3_Intron	p.D879D	NM_145728	NP_663780	O15061	SYNEM_HUMAN			4	2757	+			880			Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Silent	SNP	ENST00000560674.1	37	c.2637C>T																																																																																					0.582	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728	
GRIN2A	2903	broad.mit.edu	37	16	9857448	9857448	+	Missense_Mutation	SNP	C	C	T	rs149745535		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr16:9857448C>T	ENST00000396573.2	-	14	4262	c.3953G>A	c.(3952-3954)cGg>cAg	p.R1318Q	GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1318Q|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1318Q	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1318			R -> W (found in a cutaneous malignant melanoma sample; somatic mutation). {ECO:0000269|PubMed:21499247}.		directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTCCAGAAGCCGTTCCCTGTC	0.527																																						uc010uym.2																			0		p.R1318W(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3952-3954)cGg>cAg		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	C	GLN/ARG,GLN/ARG,	1,4393	2.1+/-5.4	0,1,2196	97.0	100.0	99.0		3953,3953,	3.5	0.9	16	dbSNP_134	99	0,8600		0,0,4300	no	missense,missense,intron	GRIN2A	NM_000833.3,NM_001134407.1,NM_001134408.1	43,43,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging,probably-damaging,	1318/1465,1318/1465,	9857448	1,12993	2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857448C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3953G>A	16.37:g.9857448C>T	ENSP00000379818:p.Arg1318Gln					GRIN2A_uc002czo.4_Missense_Mutation_p.R1318Q|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	p.R1318Q	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN			13	4263	-			1318					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3953G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.455418	0.63401	2.28E-4	0.0	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.23348	1.91;1.91;1.91	5.47	3.53	0.40419	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.096756	0.64402	N	0.000005	T	0.27731	0.0682	M	0.77103	2.36	0.80722	D	1	B	0.19331	0.035	B	0.15870	0.014	T	0.05338	-1.0891	9	.	.	.	.	8.8015	0.34912	0.0:0.746:0.0:0.254	.	1318	Q12879	NMDE1_HUMAN	Q	1318	ENSP00000379818:R1318Q;ENSP00000332549:R1318Q;ENSP00000379820:R1318Q	.	R	-	2	0	GRIN2A	9764949	1.000000	0.71417	0.915000	0.36163	0.996000	0.88848	2.952000	0.49097	0.808000	0.34231	0.650000	0.86243	CGG		0.527	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
DNAH3	55567	broad.mit.edu	37	16	21156695	21156695	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr16:21156695C>G	ENST00000261383.3	-	3	254	c.255G>C	c.(253-255)ttG>ttC	p.L85F	DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Missense_Mutation_p.L85F	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	85	Stem. {ECO:0000250}.				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)		TGCGTTGCATCAAGGGCGGGT	0.527																																						uc010vbe.2																			0				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						c.(253-255)ttG>ttC		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.							152.0	119.0	130.0					16																	21156695		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.chr16:21156695C>G	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.255G>C	16.37:g.21156695C>G	ENSP00000261383:p.Leu85Phe					DNAH3_uc002die.2_Missense_Mutation_p.L56F	p.L85F	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	2	255	-			85			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.255G>C	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380000	0.61845	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.31510	1.49;1.54	5.81	2.79	0.32731	.	0.000000	0.48767	D	0.000172	T	0.39436	0.1078	L	0.36672	1.1	0.37732	D	0.925316	D;D	0.76494	0.995;0.999	P;D	0.74674	0.796;0.984	T	0.36529	-0.9744	10	0.72032	D	0.01	.	7.2423	0.26104	0.0:0.7013:0.1423:0.1563	.	85;56	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	F	85;85;56	ENSP00000261383:L85F;ENSP00000394245:L85F	ENSP00000261383:L85F	L	-	3	2	DNAH3	21064196	0.977000	0.34250	0.981000	0.43875	0.642000	0.38348	0.098000	0.15189	0.790000	0.33803	0.655000	0.94253	TTG		0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
TNRC6A	27327	broad.mit.edu	37	16	24807240	24807240	+	Frame_Shift_Del	DEL	A	A	-			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr16:24807240delA	ENST00000395799.3	+	9	3670	c.3541delA	c.(3541-3543)aaafs	p.K1182fs	TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1182	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTGAGTGGCAAAAAAAGGAG	0.398																																						uc002dmm.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3541-3543)aaafs		Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.							243.0	224.0	231.0					16																	24807240		2197	4300	6497	SO:0001589	frameshift_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24807240delA	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3541delA	16.37:g.24807240delA	ENSP00000379144:p.Lys1182fs					TNRC6A_uc010bxs.3_Frame_Shift_Del_p.K928fs|TNRC6A_uc010vcc.1_Frame_Shift_Del_p.K928fs|TNRC6A_uc002dmn.3_Frame_Shift_Del_p.K928fs|TNRC6A_uc002dmo.3_Frame_Shift_Del_p.K869fs	p.K1181fs	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	8	3655	+			1181			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Frame_Shift_Del	DEL	ENST00000395799.3	37	c.3541delA	CCDS10624.2																																																																																				0.398	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847	
SEZ6L2	26470	broad.mit.edu	37	16	29884862	29884862	+	Missense_Mutation	SNP	C	C	T	rs375292147		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr16:29884862C>T	ENST00000308713.5	-	13	2820	c.2293G>A	c.(2293-2295)Gcc>Acc	p.A765T	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.A721T|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.A651T|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.A695T	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	765	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GACTCACAGGCGCATTTGGGG	0.672																																						uc010vec.2																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2293-2295)Gcc>Acc		Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4394		0,0,2197	60.0	55.0	57.0		2083,1951,2083,2293	4.7	1.0	16		57	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SEZ6L2	NM_001114099.2,NM_001114100.2,NM_012410.3,NM_201575.3	58,58,58,58	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	695/841,651/810,695/854,765/911	29884862	1,12993	2197	4300	6497	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29884862C>T	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2293G>A	16.37:g.29884862C>T	ENSP00000312550:p.Ala765Thr					BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.A695T|SEZ6L2_uc002dur.4_Missense_Mutation_p.A695T|SEZ6L2_uc002duq.4_Missense_Mutation_p.A765T|SEZ6L2_uc010ved.2_Missense_Mutation_p.A721T|SEZ6L2_uc002dus.4_Missense_Mutation_p.A651T	p.A765T	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN			12	2538	-			765			Sushi 4.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.2293G>A	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171881	0.57584	0.0	1.16E-4	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.33216	1.63;1.42;1.58;1.6	4.67	4.67	0.58626	Complement control module (1);Sushi/SCR/CCP (1);	0.182761	0.26680	N	0.023060	T	0.13072	0.0317	N	0.03050	-0.425	0.48185	D	0.999605	P;P;B;B;B;P	0.38677	0.617;0.567;0.429;0.411;0.338;0.642	B;B;B;B;B;B	0.28465	0.065;0.026;0.058;0.063;0.017;0.09	T	0.16453	-1.0402	10	0.42905	T	0.14	.	16.3465	0.83134	0.0:1.0:0.0:0.0	.	721;765;651;695;765;695	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	T	695;765;651;721	ENSP00000310206:A695T;ENSP00000312550:A765T;ENSP00000319215:A651T;ENSP00000439412:A721T	ENSP00000312550:A765T	A	-	1	0	SEZ6L2	29792363	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	3.106000	0.50322	2.138000	0.66242	0.655000	0.94253	GCC		0.672	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410	
CMTM2	146225	broad.mit.edu	37	16	66613682	66613682	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr16:66613682C>T	ENST00000268595.2	+	1	323	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S	RP11-403P17.2_ENST00000568430.1_RNA|CMTM2_ENST00000379486.2_Missense_Mutation_p.P58S	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	58					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		GGCGGTGCAGCCCAAGCACGA	0.557																																						uc002ept.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17						c.(172-174)Ccc>Tcc		Homo sapiens CKLF-like MARVEL transmembrane domain containing 2 (CMTM2), transcript variant 1, mRNA.							63.0	61.0	61.0					16																	66613682		2201	4300	6501	SO:0001583	missense	146225				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66613682C>T	BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"""chemokine-like factor super family 2"", ""chemokine-like factor superfamily 2"""	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.172C>T	16.37:g.66613682C>T	ENSP00000268595:p.Pro58Ser					CMTM2_uc010cdu.3_Missense_Mutation_p.P58S	p.P58S	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)	0	332	+		Ovarian(137;0.0563)	58					Q5I2A4|Q8N7E5	Missense_Mutation	SNP	ENST00000268595.2	37	c.172C>T	CCDS10814.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604386	0.46423	.	.	ENSG00000140932	ENST00000379486;ENST00000268595	T;T	0.56776	0.44;1.03	3.34	3.34	0.38264	.	0.374312	0.23476	N	0.047780	T	0.62829	0.2460	L	0.50333	1.59	0.31194	N	0.700552	D;D	0.89917	1.0;0.999	D;D	0.72338	0.977;0.943	T	0.64106	-0.6485	10	0.54805	T	0.06	-2.5459	10.4856	0.44719	0.0:1.0:0.0:0.0	.	58;58	Q5I2A4;Q8TAZ6	.;CKLF2_HUMAN	S	58	ENSP00000368800:P58S;ENSP00000268595:P58S	ENSP00000268595:P58S	P	+	1	0	CMTM2	65171183	0.980000	0.34600	0.998000	0.56505	0.214000	0.24535	0.910000	0.28571	2.160000	0.67779	0.561000	0.74099	CCC		0.557	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268808.1		
DNAI2	64446	broad.mit.edu	37	17	72308276	72308276	+	Silent	SNP	G	G	A	rs201925425		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr17:72308276G>A	ENST00000311014.6	+	12	1696	c.1629G>A	c.(1627-1629)gcG>gcA	p.A543A	DNAI2_ENST00000307504.5_Intron|DNAI2_ENST00000579490.1_Silent_p.A600A|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000582036.1_Silent_p.A531A|DNAI2_ENST00000446837.2_Silent_p.A543A			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	543					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ACCTGGAGGCGCTGGTCAGCA	0.617									Kartagener syndrome				G|||	1	0.000199681	0.0008	0.0	5008	,	,		16378	0.0		0.0	False		,,,				2504	0.0					uc002jkf.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1627-1629)gcG>gcA		Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.							79.0	60.0	67.0					17																	72308276		2203	4300	6503	SO:0001819	synonymous_variant	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72308276G>A	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1629G>A	17.37:g.72308276G>A						DNAI2_uc002jkg.3_Silent_p.A531A|DNAI2_uc010dfp.3_Intron|BX648926_uc002jkh.1_5'Flank|DNAI2_uc002jki.3_Non-coding_Transcript	p.A543A	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN			11	1739	+			543					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	ENST00000311014.6	37	c.1629G>A	CCDS11697.1																																																																																				0.617	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036	
QRICH2	84074	broad.mit.edu	37	17	74276772	74276772	+	Frame_Shift_Del	DEL	T	T	-			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr17:74276772delT	ENST00000262765.5	-	10	4105	c.3926delA	c.(3925-3927)aagfs	p.K1309fs		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1309										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCTGTTGGCCTTTTCCTTTTC	0.587																																						uc002jrd.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(3925-3927)aagfs		Homo sapiens glutamine rich 2 (QRICH2), mRNA.							167.0	153.0	158.0					17																	74276772		2203	4300	6503	SO:0001589	frameshift_variant	84074						protein binding	g.chr17:74276772delT	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3926delA	17.37:g.74276772delT	ENSP00000262765:p.Lys1309fs					QRICH2_uc010dgw.1_Frame_Shift_Del_p.K153fs	p.K1309fs	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			9	4106	-			1309					A2RRE1|Q96LM3	Frame_Shift_Del	DEL	ENST00000262765.5	37	c.3926delA	CCDS32741.1																																																																																				0.587	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134	
SERPINB13	5275	broad.mit.edu	37	18	61255920	61255920	+	Missense_Mutation	SNP	G	G	A	rs139825462		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr18:61255920G>A	ENST00000344731.5	+	2	121	c.19G>A	c.(19-21)Gtc>Atc	p.V7I	SERPINB13_ENST00000269489.5_Missense_Mutation_p.V7I	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	7					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V7I(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ACTTGGCGCCGTCAGCACTCG	0.418																																						uc010xep.2																			3	Substitution - Missense(3)	p.V7I(6)	prostate(2)|kidney(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(19-21)Gtc>Atc		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.		G	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	94.0	90.0	91.0		19	2.1	0.0	18	dbSNP_134	91	0,8600		0,0,4300	no	missense	SERPINB13	NM_012397.3	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	7/392	61255920	3,13003	2203	4300	6503	SO:0001583	missense	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61255920G>A	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.19G>A	18.37:g.61255920G>A	ENSP00000341584:p.Val7Ile					SERPINB13_uc002ljc.3_Missense_Mutation_p.V7I|SERPINB13_uc002ljd.3_5'UTR|SERPINB13_uc010xeq.2_5'UTR|SERPINB13_uc010xer.2_5'UTR	p.V7I	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN			1	187	+			7					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	c.19G>A	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380737	0.24944	6.81E-4	0.0	ENSG00000197641	ENST00000431153;ENST00000269489;ENST00000539341;ENST00000344731	T;T;D	0.82081	-0.79;2.82;-1.57	4.89	2.12	0.27331	Serpin domain (1);	0.365172	0.23587	N	0.046598	T	0.69178	0.3082	N	0.20881	0.62	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.003	T	0.59547	-0.7434	10	0.59425	D	0.04	.	6.7555	0.23512	0.0764:0.1282:0.6636:0.1318	.	7;7	B7ZKV6;Q9UIV8	.;SPB13_HUMAN	I	37;7;7;7	ENSP00000388300:V37I;ENSP00000269489:V7I;ENSP00000341584:V7I	ENSP00000269489:V7I	V	+	1	0	SERPINB13	59406900	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.742000	0.26216	0.261000	0.21753	-1.149000	0.01842	GTC		0.418	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397	
CLEC4M	10332	broad.mit.edu	37	19	7833731	7833731	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:7833731C>T	ENST00000327325.5	+	7	1175	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	CLEC4M_ENST00000394122.2_Missense_Mutation_p.R341W|CLEC4M_ENST00000597522.1_Missense_Mutation_p.A223V|CLEC4M_ENST00000595496.1_Missense_Mutation_p.R217W|CLEC4M_ENST00000248228.4_Missense_Mutation_p.R331W|CLEC4M_ENST00000357361.2_Missense_Mutation_p.A315V|CLEC4M_ENST00000596707.1_Missense_Mutation_p.R286W|CLEC4M_ENST00000596363.1_Missense_Mutation_p.A287V|CLEC4M_ENST00000334806.5_Missense_Mutation_p.R302W|CLEC4M_ENST00000359059.5_Missense_Mutation_p.R286W	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	353	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CAGCTTCCAGCGGTACTGGAA	0.498																																						uc010dvt.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						c.(1057-1059)Cgg>Tgg		Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.							136.0	125.0	129.0					19																	7833731		2203	4300	6503	SO:0001583	missense	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7833731C>T	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.1057C>T	19.37:g.7833731C>T	ENSP00000316228:p.Arg353Trp					CLEC4M_uc002mih.3_Missense_Mutation_p.R330W|CLEC4M_uc010xjw.2_Missense_Mutation_p.R286W|CLEC4M_uc010dvs.3_Missense_Mutation_p.R329W|CLEC4M_uc010xjx.2_Missense_Mutation_p.R302W|CLEC4M_uc002mhz.3_Missense_Mutation_p.A223V|CLEC4M_uc002mic.3_Missense_Mutation_p.A287V|CLEC4M_uc002mia.3_Missense_Mutation_p.R217W	p.R353W	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN			6	1175	+			353			C-type lectin.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	ENST00000327325.5	37	c.1057C>T	CCDS12187.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.95|11.95	1.791353|1.791353	0.31685|0.31685	.|.	.|.	ENSG00000104938|ENSG00000104938	ENST00000357361|ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059	T|T;T;T;T;T	0.03124|0.18174	4.04|2.23;2.23;2.23;2.23;2.23	1.95|1.95	0.891|0.891	0.19224|0.19224	.|C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.|.	.|.	.|.	.|.	T|T	0.30510|0.30510	0.0767|0.0767	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|D;D;D;D;P;D	0.26845|0.76494	0.161;0.07|0.992;0.987;0.999;0.986;0.778;0.997	B;B|P;P;D;P;B;P	0.19946|0.64877	0.027;0.016|0.818;0.713;0.93;0.848;0.015;0.863	T|T	0.09143|0.09143	-1.0688|-1.0688	8|8	0.87932|0.87932	D|D	0|0	.|.	4.887|4.887	0.13708|0.13708	0.6421:0.3579:0.0:0.0|0.6421:0.3579:0.0:0.0	.|.	287;223|302;286;353;341;330;217	Q9H2X3-9;Q9H2X3-4|B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-7	.;.|.;.;CLC4M_HUMAN;.;.;.	V|W	315|353;341;331;302;286	ENSP00000349924:A315V|ENSP00000316228:R353W;ENSP00000377680:R341W;ENSP00000248228:R331W;ENSP00000335228:R302W;ENSP00000351954:R286W	ENSP00000349924:A315V|ENSP00000248228:R331W	A|R	+|+	2|1	0|2	CLEC4M|CLEC4M	7739731|7739731	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.002000|0.002000	0.02628|0.02628	-0.286000|-0.286000	0.08399|0.08399	0.225000|0.225000	0.20959|0.20959	0.306000|0.306000	0.20318|0.20318	GCG|CGG		0.498	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257	
SLC1A6	6511	broad.mit.edu	37	19	15067440	15067440	+	Silent	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:15067440C>T	ENST00000221742.3	-	6	1024	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	SLC1A6_ENST00000600144.1_Intron|SLC1A6_ENST00000430939.2_Silent_p.L275L	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	339					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						TGTACATGCCCAGCTGACCCC	0.587																																						uc002naa.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1015-1017)ctG>ctA		Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	L-Glutamic Acid(DB00142)						154.0	131.0	139.0					19																	15067440		2203	4300	6503	SO:0001819	synonymous_variant	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15067440C>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1017G>A	19.37:g.15067440C>T						SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Silent_p.L275L	p.L339L	NM_005071	NP_005062	P48664	EAA4_HUMAN			5	1024	-			339					Q8N753	Silent	SNP	ENST00000221742.3	37	c.1017G>A	CCDS12321.1																																																																																				0.587	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071	
KCNN1	3780	broad.mit.edu	37	19	18084899	18084899	+	Missense_Mutation	SNP	G	G	A	rs187534285		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:18084899G>A	ENST00000222249.9	+	3	521	c.202G>A	c.(202-204)Gat>Aat	p.D68N	RNA5SP468_ENST00000516782.1_RNA	NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	68					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	GGACCAGGACGATGACGAGGA	0.701													G|||	1	0.000199681	0.0	0.0	5008	,	,		12788	0.001		0.0	False		,,,				2504	0.0					uc002nht.3																			0				endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						c.(202-204)Gat>Aat		Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.							31.0	43.0	39.0					19																	18084899		1976	4138	6114	SO:0001583	missense	3780				synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr19:18084899G>A	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.202G>A	19.37:g.18084899G>A	ENSP00000476519:p.Asp68Asn					KCNN1_uc010xqa.1_Missense_Mutation_p.D68N	p.D68N	NM_002248	NP_002239	Q92952	KCNN1_HUMAN			2	512	+			68					Q5KR10|Q6DJU4	Missense_Mutation	SNP	ENST00000222249.9	37	c.202G>A		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	7.576	0.667656	0.14710	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	4.66	3.62	0.41486	.	0.464299	0.20743	U	0.086492	T	0.20740	0.0499	N	0.08118	0	0.09310	N	1	B	0.19445	0.036	B	0.11329	0.006	T	0.15983	-1.0418	9	0.14656	T	0.56	-2.3489	10.862	0.46831	0.0936:0.0:0.9064:0.0	.	68	Q92952	KCNN1_HUMAN	N	85;68	.	ENSP00000222249:D85N	D	+	1	0	KCNN1	17945899	0.006000	0.16342	0.059000	0.19551	0.574000	0.36063	0.543000	0.23237	1.183000	0.42943	0.561000	0.74099	GAT		0.701	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248	
PSG6	5675	broad.mit.edu	37	19	43414919	43414919	+	Silent	SNP	C	C	T	rs1065506		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:43414919C>T	ENST00000292125.2	-	3	563	c.519G>A	c.(517-519)ccG>ccA	p.P173P	PSG6_ENST00000187910.2_Silent_p.P173P|PSG6_ENST00000402603.4_Silent_p.P173P	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	173	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				AGCTTGCATCCGGAGTCTCAG	0.532													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18613	0.0		0.0	False		,,,				2504	0.0					uc002ovj.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(517-519)ccG>ccA		Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.		C	,	1,4401		0,1,2200	210.0	207.0	208.0		519,519	-2.8	0.0	19	dbSNP_86	208	2,8596		0,2,4297	no	coding-synonymous,coding-synonymous	PSG6	NM_001031850.2,NM_002782.3	,	0,3,6497	TT,TC,CC		0.0233,0.0227,0.0231	,	173/425,173/436	43414919	3,12997	2201	4299	6500	SO:0001819	synonymous_variant	5675				defense response|female pregnancy	extracellular region		g.chr19:43414919C>T		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.519G>A	19.37:g.43414919C>T						PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Silent_p.P173P	p.P173P	NM_002782	NP_002773	Q00888	PSG4_HUMAN			2	618	-		Prostate(69;0.00682)	174			Ig-like C2-type 1.		O75244|Q15224|Q15235|Q549K1	Silent	SNP	ENST00000292125.2	37	c.519G>A	CCDS12613.1																																																																																				0.532	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782	
SIGLEC5	8778	broad.mit.edu	37	19	52115643	52115643	+	Silent	SNP	G	G	A	rs141897891	byFrequency	TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:52115643G>A	ENST00000534261.2	-	10	1896	c.1497C>T	c.(1495-1497)ccC>ccT	p.P499P	SIGLEC5_ENST00000429354.3_Silent_p.P499P|SIGLEC5_ENST00000599649.1_Silent_p.P499P|SIGLEC5_ENST00000570106.2_Silent_p.P499P|SIGLEC5_ENST00000222107.4_Silent_p.P499P			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	499			P -> A (in dbSNP:rs3829655). {ECO:0000269|PubMed:15489334}.		cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTTGATCTCCGGGGCTGTCTG	0.507													A|||	4	0.000798722	0.003	0.0	5008	,	,		19083	0.0		0.0	False		,,,				2504	0.0					uc002pxe.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1495-1497)ccC>ccT		Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.		A		5,4401	822.8+/-416.5	0,5,2198	73.0	77.0	76.0		1497	-6.3	0.0	19	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous	SIGLEC5	NM_003830.2		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		499/552	52115643	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52115643G>A	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1497C>T	19.37:g.52115643G>A							p.P499P	NM_003830	NP_003821	O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	8	1636	-		all_neural(266;0.0726)	499		P -> A (in dbSNP:rs3829655).				Silent	SNP	ENST00000534261.2	37	c.1497C>T	CCDS33088.1																																																																																				0.507	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830	
NLRP5	126206	broad.mit.edu	37	19	56515208	56515208	+	Silent	SNP	C	C	T	rs543185262		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:56515208C>T	ENST00000390649.3	+	2	189	c.189C>T	c.(187-189)taC>taT	p.Y63Y		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	63	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTTCCAGCTACGGGCTGCAAT	0.423																																						uc002qmj.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(187-189)taC>taT		Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.							113.0	106.0	108.0					19																	56515208		1865	4109	5974	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56515208C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.189C>T	19.37:g.56515208C>T						NLRP5_uc002qmi.3_Silent_p.Y63Y	p.Y63Y	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	1	189	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	63			DAPIN.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.189C>T	CCDS12938.1																																																																																				0.423	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
KLF11	8462	broad.mit.edu	37	2	10186413	10186413	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:10186413G>T	ENST00000305883.1	+	2	341	c.179G>T	c.(178-180)aGa>aTa	p.R60I	KLF11_ENST00000535335.1_Missense_Mutation_p.R43I|KLF11_ENST00000540845.1_Missense_Mutation_p.R43I	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	60					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TGGGGTCAAAGATCCCAGAAA	0.537																																					Melanoma(56;431 1507 23687 50789)	uc002raf.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(178-180)aGa>aTa		Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA.							104.0	98.0	100.0					2																	10186413		2203	4300	6503	SO:0001583	missense	8462				apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr2:10186413G>T	AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11811	protein-coding gene	gene with protein product		603301	"""TGFB inducible early growth response 2"""	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.179G>T	2.37:g.10186413G>T	ENSP00000307023:p.Arg60Ile					KLF11_uc021vdq.1_Missense_Mutation_p.R43I|KLF11_uc010yjc.2_Missense_Mutation_p.R43I	p.R60I	NM_003597	NP_001171189	O14901	KLF11_HUMAN		Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)	1	341	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		60					B4DZE7|Q9EPF4	Missense_Mutation	SNP	ENST00000305883.1	37	c.179G>T	CCDS1668.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815148	0.90790	.	.	ENSG00000172059	ENST00000401510;ENST00000305883;ENST00000448523;ENST00000540845;ENST00000440320;ENST00000535335	T;T;T;T;T;T	0.66099	-0.15;2.42;-0.19;2.41;-0.15;2.41	5.4	5.4	0.78164	.	0.165409	0.53938	D	0.000041	T	0.80138	0.4568	M	0.77103	2.36	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	T	0.82504	-0.0424	10	0.87932	D	0	.	19.1652	0.93553	0.0:0.0:1.0:0.0	.	60	O14901	KLF11_HUMAN	I	43;60;43;43;43;43	ENSP00000386058:R43I;ENSP00000307023:R60I;ENSP00000387866:R43I;ENSP00000444690:R43I;ENSP00000388263:R43I;ENSP00000442722:R43I	ENSP00000307023:R60I	R	+	2	0	KLF11	10103864	1.000000	0.71417	0.610000	0.28997	0.843000	0.47879	3.515000	0.53429	2.520000	0.84964	0.462000	0.41574	AGA		0.537	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000239202.3	NM_003597	
LAPTM4A	9741	broad.mit.edu	37	2	20240757	20240757	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:20240757T>A	ENST00000175091.4	-	2	634	c.127A>T	c.(127-129)Atg>Ttg	p.M43L		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	43					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAATTGCCATCAATAGGTTT	0.378																																					Ovarian(90;1240 1386 7711 14384 46863)	uc002rdm.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						c.(127-129)Atg>Ttg		Homo sapiens lysosomal protein transmembrane 4 alpha (LAPTM4A), mRNA.							125.0	114.0	118.0					2																	20240757		2203	4300	6503	SO:0001583	missense	9741				transport	endomembrane system|Golgi apparatus|integral to membrane		g.chr2:20240757T>A	D14696	CCDS1696.1	2p24.1	2008-08-11	2008-08-11		ENSG00000068697	ENSG00000068697			6924	protein-coding gene	gene with protein product			"""lysosomal-associated protein transmembrane 4 alpha"""	MBNT		8621662, 7788527	Standard	NM_014713		Approved	HUMORF13, KIAA0108, Mtrp, LAPTM4	uc002rdm.3	Q15012	OTTHUMG00000090750	ENST00000175091.4:c.127A>T	2.37:g.20240757T>A	ENSP00000175091:p.Met43Leu					LAPTM4A_uc010yjx.2_Missense_Mutation_p.M43L	p.M43L	NM_014713	NP_055528	Q15012	LAP4A_HUMAN			1	635	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		43					Q6UW22	Missense_Mutation	SNP	ENST00000175091.4	37	c.127A>T	CCDS1696.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.097485	0.56075	.	.	ENSG00000068697	ENST00000175091	T	0.33216	1.42	5.99	4.86	0.63082	.	0.077351	0.85682	D	0.000000	T	0.22244	0.0536	L	0.46157	1.445	0.58432	D	0.999996	B;B	0.17268	0.017;0.021	B;B	0.18871	0.006;0.023	T	0.05801	-1.0863	10	0.07990	T	0.79	-19.2469	8.0574	0.30612	0.0:0.1176:0.0:0.8824	.	43;43	B4E2U6;Q15012	.;LAP4A_HUMAN	L	43	ENSP00000175091:M43L	ENSP00000175091:M43L	M	-	1	0	LAPTM4A	20104238	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.814000	0.62627	2.291000	0.77112	0.533000	0.62120	ATG		0.378	LAPTM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207494.1	NM_014713	
PROM2	150696	broad.mit.edu	37	2	95947041	95947041	+	Silent	SNP	C	C	T	rs537874801	byFrequency	TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:95947041C>T	ENST00000317620.9	+	12	1612	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	PROM2_ENST00000317668.4_Silent_p.F493F|PROM2_ENST00000403131.2_Silent_p.F493F|PROM2_ENST00000542147.1_Silent_p.F493F	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	493					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TCCTGGTGTTCGCCACCTTCC	0.642													C|||	2	0.000399361	0.0	0.0	5008	,	,		15758	0.0		0.0	False		,,,				2504	0.002					uc002suk.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1477-1479)ttC>ttT		Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.							90.0	84.0	86.0					2																	95947041		2203	4300	6503	SO:0001819	synonymous_variant	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95947041C>T	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1479C>T	2.37:g.95947041C>T						PROM2_uc002suh.2_Silent_p.F493F|PROM2_uc002sui.3_Silent_p.F493F|PROM2_uc002suj.3_Silent_p.F147F|PROM2_uc002sul.3_Silent_p.F19F|PROM2_uc002sum.3_Non-coding_Transcript	p.F493F	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN			11	1612	+			493					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent	SNP	ENST00000317620.9	37	c.1479C>T	CCDS2012.1																																																																																				0.642	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707	
DPP10	57628	broad.mit.edu	37	2	116534868	116534868	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:116534868C>A	ENST00000410059.1	+	14	1786	c.1306C>A	c.(1306-1308)Caa>Aaa	p.Q436K	DPP10_ENST00000310323.8_Missense_Mutation_p.Q429K|DPP10_ENST00000393147.2_Missense_Mutation_p.Q440K|DPP10_ENST00000409163.1_Missense_Mutation_p.Q386K	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	436						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGAAACTACTCAAAAAATGTG	0.378																																						uc002tle.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(1318-1320)Caa>Aaa		Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.							104.0	99.0	101.0					2																	116534868		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116534868C>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1306C>A	2.37:g.116534868C>A	ENSP00000386565:p.Gln436Lys					DPP10_uc002tla.2_Missense_Mutation_p.Q436K|DPP10_uc002tlb.2_Missense_Mutation_p.Q386K|DPP10_uc002tlc.2_Missense_Mutation_p.Q432K|DPP10_uc002tlf.2_Missense_Mutation_p.Q429K	p.Q440K	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN			13	1339	+			436					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1318C>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969876	0.34754	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	4.97	3.07	0.35406	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.312050	0.35466	N	0.003198	T	0.27967	0.0689	L	0.39245	1.2	0.34465	D	0.70222	B;P;B;B	0.44090	0.059;0.826;0.157;0.073	B;P;B;B	0.47603	0.039;0.551;0.065;0.065	T	0.42258	-0.9462	10	0.62326	D	0.03	-34.1834	11.769	0.51947	0.3193:0.6807:0.0:0.0	.	429;440;432;436	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	K	436;386;440;429;386	ENSP00000386565:Q436K;ENSP00000387038:Q386K;ENSP00000376855:Q440K;ENSP00000309066:Q429K	ENSP00000309066:Q429K	Q	+	1	0	DPP10	116251338	1.000000	0.71417	0.994000	0.49952	0.966000	0.64601	2.229000	0.42990	0.716000	0.32124	0.655000	0.94253	CAA		0.378	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	
SCN2A	6326	broad.mit.edu	37	2	166179852	166179852	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:166179852C>T	ENST00000375437.2	+	12	2148	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	SCN2A_ENST00000357398.3_Missense_Mutation_p.R620W|SCN2A_ENST00000375427.2_Missense_Mutation_p.R620W|SCN2A_ENST00000283256.6_Missense_Mutation_p.R620W	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	620					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACATGGAGAACGGCGCCACAG	0.562																																						uc002udc.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(1858-1860)Cgg>Tgg		Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	Lamotrigine(DB00555)						62.0	53.0	56.0					2																	166179852		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166179852C>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1858C>T	2.37:g.166179852C>T	ENSP00000364586:p.Arg620Trp					SCN2A_uc002udd.3_Missense_Mutation_p.R620W|SCN2A_uc002ude.3_Missense_Mutation_p.R620W	p.R620W	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN			11	2148	+			620					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.1858C>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.666023	0.67700	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15	5.64	2.58	0.30949	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000020	D	0.97133	0.9063	M	0.91717	3.235	0.48762	D	0.999707	D;D	0.89917	1.0;1.0	D;D	0.91635	0.939;0.999	D	0.97749	1.0213	10	0.72032	D	0.01	.	15.445	0.75223	0.5146:0.4854:0.0:0.0	.	620;620	Q99250-2;Q99250	.;SCN2A_HUMAN	W	620	ENSP00000364586:R620W;ENSP00000349973:R620W;ENSP00000283256:R620W;ENSP00000364576:R620W	ENSP00000283256:R620W	R	+	1	2	SCN2A	165888098	0.995000	0.38212	0.995000	0.50966	0.914000	0.54420	0.708000	0.25719	0.679000	0.31345	-0.202000	0.12741	CGG		0.562	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
SPEG	10290	broad.mit.edu	37	2	220329174	220329174	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:220329174G>A	ENST00000312358.7	+	9	2857	c.2725G>A	c.(2725-2727)Gtg>Atg	p.V909M	SPEG_ENST00000396689.2_Missense_Mutation_p.V60M|SPEG_ENST00000396698.1_Missense_Mutation_p.V805M|SPEG_ENST00000396695.2_Missense_Mutation_p.V117M|SPEG_ENST00000396688.1_Missense_Mutation_p.V60M|SPEG_ENST00000396686.1_Missense_Mutation_p.V60M|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	909	Ig-like 3.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCGCCAGCCCGTGCGCCCAGA	0.662																																						uc010fwg.3																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(2725-2727)Gtg>Atg		Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.							54.0	62.0	59.0					2																	220329174		2060	4192	6252	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220329174G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2725G>A	2.37:g.220329174G>A	ENSP00000311684:p.Val909Met					SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_Missense_Mutation_p.V117M|SPEG_uc002vln.1_Missense_Mutation_p.V117M|SPEG_uc002vlp.1_Missense_Mutation_p.V117M|SPEG_uc002vlq.3_Missense_Mutation_p.V60M	p.V909M	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	8	2725	+		Renal(207;0.0183)	909			Ig-like 3.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.2725G>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456099	0.84209	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000396698;ENST00000396695;ENST00000396688;ENST00000396686;ENST00000396689	T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.1	5.1	0.69264	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36134	N	0.002780	T	0.78078	0.4227	L	0.50993	1.605	0.47441	D	0.999425	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.988;0.999	T	0.80289	-0.1445	10	0.87932	D	0	.	16.3019	0.82825	0.0:0.0:1.0:0.0	.	909;117;805	Q15772;Q15772-3;B9ZVR7	SPEG_HUMAN;.;.	M	909;909;805;117;60;60;60	ENSP00000311684:V909M;ENSP00000379926:V805M;ENSP00000379923:V117M;ENSP00000379919:V60M;ENSP00000379917:V60M;ENSP00000379920:V60M	ENSP00000265327:V909M	V	+	1	0	SPEG	220037418	1.000000	0.71417	0.976000	0.42696	0.915000	0.54546	5.374000	0.66167	2.381000	0.81170	0.561000	0.74099	GTG		0.662	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876	
SPHKAP	80309	broad.mit.edu	37	2	228856023	228856023	+	Nonsense_Mutation	SNP	T	T	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:228856023T>A	ENST00000392056.3	-	10	4787	c.4741A>T	c.(4741-4743)Aag>Tag	p.K1581*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.K1552*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1581						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)		TTAAGAATCTTCTTTTCTTCT	0.403																																						uc002vpq.2																			0				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						c.(4741-4743)Aag>Tag		Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.							163.0	159.0	160.0					2																	228856023		2203	4300	6503	SO:0001587	stop_gained	80309					cytoplasm	protein binding	g.chr2:228856023T>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.4741A>T	2.37:g.228856023T>A	ENSP00000375909:p.Lys1581*					SPHKAP_uc002vpp.2_Nonsense_Mutation_p.K1552*|SPHKAP_uc010zlx.1_Intron	p.K1581*	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)	9	4788	-		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)	1581					Q68DA3|Q68DR8|Q9C0I5	Nonsense_Mutation	SNP	ENST00000392056.3	37	c.4741A>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	44	10.899752	0.99485	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	.	.	.	6.04	6.04	0.98038	.	0.415525	0.26474	N	0.024163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	13.002	0.58681	0.0:0.9262:0.0:0.0737	.	.	.	.	X	1581;1552	.	ENSP00000339886:K1552X	K	-	1	0	SPHKAP	228564267	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.948000	0.29096	1.586000	0.49944	-0.213000	0.12676	AAG		0.403	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
SALL4	57167	broad.mit.edu	37	20	50407509	50407509	+	Missense_Mutation	SNP	C	C	T	rs200920825		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr20:50407509C>T	ENST00000217086.4	-	2	1624	c.1513G>A	c.(1513-1515)Ggt>Agt	p.G505S	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	505					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G505S(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCAGGTCACCGGGCAAGGAG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		18937	0.0		0.001	False		,,,				2504	0.0					uc002xwh.4																			1	Substitution - Missense(1)	p.G505S(2)	lung(1)	endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1513-1515)Ggt>Agt		Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.							95.0	103.0	101.0					20																	50407509		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407509C>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1513G>A	20.37:g.50407509C>T	ENSP00000217086:p.Gly505Ser					SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	p.G505S	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			1	1614	-			505					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.1513G>A	CCDS13438.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.011	-1.715745	0.00706	.	.	ENSG00000101115	ENST00000217086	T	0.08102	3.13	5.4	-8.8	0.00817	.	3.049620	0.00988	N	0.003485	T	0.03390	0.0098	N	0.05441	-0.05	0.09310	N	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.37454	-0.9705	10	0.05959	T	0.93	0.1204	9.3015	0.37849	0.0:0.3667:0.397:0.2363	.	505	Q9UJQ4	SALL4_HUMAN	S	505	ENSP00000217086:G505S	ENSP00000217086:G505S	G	-	1	0	SALL4	49840916	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	-0.902000	0.04088	-2.068000	0.00884	-1.300000	0.01332	GGT		0.567	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3		
ZGPAT	84619	broad.mit.edu	37	20	62365995	62365995	+	Splice_Site	SNP	A	A	C			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr20:62365995A>C	ENST00000328969.5	+	5	998		c.e5-1		ZGPAT_ENST00000369967.3_Intron|ZGPAT_ENST00000478385.1_Intron|ZGPAT_ENST00000357119.4_Intron|LIME1_ENST00000309546.3_5'Flank|ZGPAT_ENST00000355969.6_Intron|ZGPAT_ENST00000448100.2_Intron|RP4-583P15.15_ENST00000490623.2_Intron	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain						negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CATCTCTTGCAGTGGTGGGGT	0.622																																						uc002ygk.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14						c.e5-2		Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.							149.0	142.0	145.0					20																	62365995		2203	4300	6503	SO:0001630	splice_region_variant	84619				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62365995A>C	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.872-1A>C	20.37:g.62365995A>C						ZGPAT_uc002ygi.2_Intron|ZGPAT_uc010gkk.2_Intron|ZGPAT_uc010gkl.2_Intron|ZGPAT_uc002ygm.3_Intron|ZGPAT_uc002ygj.2_Intron|ZGPAT_uc002ygn.4_Intron|ZGPAT_uc011abi.2_5'Flank|ZGPAT_uc002ygp.4_5'Flank	p.V291_splice	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN			5	1061	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		291					E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Splice_Site	SNP	ENST00000328969.5	37	c.872_splice	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	A	6.612	0.481355	0.12581	.	.	ENSG00000197114	ENST00000328969	.	.	.	2.77	-2.33	0.06724	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1835	0.00126	0.3158:0.275:0.167:0.2421	.	.	.	.	.	-1	.	.	.	+	.	.	ZGPAT	61836439	0.000000	0.05858	0.000000	0.03702	0.294000	0.27393	-1.356000	0.02609	-0.199000	0.10317	0.460000	0.39030	.		0.622	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484	Intron
NRIP1	8204	broad.mit.edu	37	21	16339283	16339283	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr21:16339283G>T	ENST00000400202.1	-	3	1943	c.1231C>A	c.(1231-1233)Cct>Act	p.P411T	NRIP1_ENST00000400199.1_Missense_Mutation_p.P411T|AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Missense_Mutation_p.P411T			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	411	Interaction with ZNF366.|Repression domain 2.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ATAGTTGTAGGTGTACTACTT	0.373																																						uc021whl.1																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(1231-1233)Cct>Act		Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.							187.0	177.0	181.0					21																	16339283		2203	4300	6503	SO:0001583	missense	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16339283G>T	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1231C>A	21.37:g.16339283G>T	ENSP00000383063:p.Pro411Thr					NRIP1_uc002yjx.2_Missense_Mutation_p.P411T	p.P411T	NM_003489	NP_003480	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	0	1231	-			411			Repression domain 2.		Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	c.1231C>A	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363680	0.41902	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.30981	1.51;1.51;1.51	5.69	5.69	0.88448	.	0.198917	0.44285	D	0.000464	T	0.43366	0.1244	L	0.53249	1.67	0.48696	D	0.999691	P	0.49783	0.928	P	0.49226	0.603	T	0.28427	-1.0044	10	0.72032	D	0.01	-20.0803	20.2726	0.98481	0.0:0.0:1.0:0.0	.	411	P48552	NRIP1_HUMAN	T	411	ENSP00000383060:P411T;ENSP00000383063:P411T;ENSP00000327213:P411T	ENSP00000327213:P411T	P	-	1	0	NRIP1	15261154	1.000000	0.71417	0.755000	0.31263	0.651000	0.38670	6.526000	0.73799	2.875000	0.98604	0.644000	0.83932	CCT		0.373	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489	
TUBA8	51807	broad.mit.edu	37	22	18609536	18609536	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr22:18609536G>A	ENST00000330423.3	+	4	864	c.791G>A	c.(790-792)cGc>cAc	p.R264H	TUBA8_ENST00000316027.6_Missense_Mutation_p.R198H	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	264					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CCCTACCCCCGCATCCACTTC	0.567																																						uc002znw.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						c.(862-864)cGc>cAc		Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA.							104.0	87.0	93.0					22																	18609536		2203	4300	6503	SO:0001583	missense	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18609536G>A	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.791G>A	22.37:g.18609536G>A	ENSP00000333326:p.Arg264His					TUBA8_uc002znv.2_Missense_Mutation_p.R264H|TUBA8_uc021wkt.1_Missense_Mutation_p.R198H	p.R288H	NM_001193414	NP_001180343	Q9NY65	TBA8_HUMAN			2	1160	+			264					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	37	c.863G>A	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	.	18.44	3.623495	0.66901	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.84589	-1.87;-1.87;-1.87	5.67	4.66	0.58398	Tubulin/FtsZ, 2-layer sandwich domain (2);Tubulin/FtsZ, GTPase domain (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92899	0.7741	M	0.88310	2.945	0.58432	D	0.999999	P;P;D	0.89917	0.459;0.683;1.0	B;B;D	0.74674	0.184;0.271;0.984	D	0.94023	0.7294	10	0.72032	D	0.01	.	13.8951	0.63766	0.0732:0.0:0.9268:0.0	.	198;288;264	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	H	198;264;288	ENSP00000318575:R198H;ENSP00000333326:R264H;ENSP00000412646:R288H	ENSP00000318575:R198H	R	+	2	0	TUBA8	16989536	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	1.537000	0.49254	0.655000	0.94253	CGC		0.567	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943	
SCUBE1	80274	broad.mit.edu	37	22	43600126	43600126	+	Silent	SNP	G	G	A	rs140846155	byFrequency	TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr22:43600126G>A	ENST00000360835.4	-	22	2970	c.2844C>T	c.(2842-2844)gaC>gaT	p.D948D		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	948					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCGCCAGCACGTCGAAGAGGG	0.572													G|||	11	0.00219649	0.0008	0.0	5008	,	,		15763	0.0		0.003	False		,,,				2504	0.0072					uc003bdt.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2842-2844)gaC>gaT		Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.		G		2,4404	6.2+/-15.9	0,2,2201	147.0	132.0	137.0		2844	-3.2	0.9	22	dbSNP_134	137	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	SCUBE1	NM_173050.3		0,8,6495	AA,AG,GG		0.0698,0.0454,0.0615		948/989	43600126	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43600126G>A		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2844C>T	22.37:g.43600126G>A							p.D948D	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN			21	2971	-		all_neural(38;0.0414)|Ovarian(80;0.07)	948					Q5R336	Silent	SNP	ENST00000360835.4	37	c.2844C>T	CCDS14048.1																																																																																				0.572	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050	
IL5RA	3568	broad.mit.edu	37	3	3139660	3139660	+	Silent	SNP	A	A	C			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr3:3139660A>C	ENST00000446632.2	-	7	1177	c.603T>G	c.(601-603)acT>acG	p.T201T	IL5RA_ENST00000430514.2_Silent_p.T201T|IL5RA_ENST00000418488.2_Silent_p.T201T|IL5RA_ENST00000456302.1_Silent_p.T201T|IL5RA_ENST00000256452.3_Silent_p.T201T|IL5RA_ENST00000438560.1_Silent_p.T201T|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000383846.1_Silent_p.T201T|IL5RA_ENST00000311981.8_Silent_p.T201T	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	201					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		TGAGGATAAAAGTCCTGGGAA	0.493																																					GBM(169;430 2801 24955 28528)	uc011ask.2																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24						c.(601-603)acT>acG		Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.							149.0	127.0	135.0					3																	3139660		2203	4300	6503	SO:0001819	synonymous_variant	3568				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	g.chr3:3139660A>C	M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.603T>G	3.37:g.3139660A>C						IL5RA_uc010hbq.3_Silent_p.T201T|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Silent_p.T201T|IL5RA_uc011asl.2_Silent_p.T201T|IL5RA_uc011asm.1_Silent_p.T201T|IL5RA_uc010hbt.2_Silent_p.T201T|IL5RA_uc011asn.1_Silent_p.T201T|IL5RA_uc010hbu.2_Silent_p.T201T	p.T201T	NM_000564	NP_783853	Q01344	IL5RA_HUMAN		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	7	1247	-			201					B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Silent	SNP	ENST00000446632.2	37	c.603T>G	CCDS2559.1																																																																																				0.493	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2		
FAM19A1	407738	broad.mit.edu	37	3	68466552	68466552	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr3:68466552C>T	ENST00000478136.1	+	3	731	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	FAM19A1_ENST00000496687.1_Missense_Mutation_p.R81W|FAM19A1_ENST00000491017.1_3'UTR	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	81						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		AACAAGAAACCGGCCTTCTTG	0.418																																						uc003dnd.3																			0		p.R81Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7						c.(241-243)Cgg>Tgg		Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.							146.0	147.0	147.0					3																	68466552		1903	4118	6021	SO:0001583	missense	407738					endoplasmic reticulum|extracellular region		g.chr3:68466552C>T	AY325114	CCDS54606.1	3p14.1	2005-01-20			ENSG00000183662	ENSG00000183662			21587	protein-coding gene	gene with protein product						15028294	Standard	NM_213609		Approved	TAFA-1	uc003dnd.3	Q7Z5A9	OTTHUMG00000158745	ENST00000478136.1:c.241C>T	3.37:g.68466552C>T	ENSP00000418575:p.Arg81Trp					FAM19A1_uc003dne.3_Missense_Mutation_p.R81W|FAM19A1_uc003dng.3_Missense_Mutation_p.R81W	p.R81W	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)	2	457	+		Lung NSC(201;0.0117)	81					A8K0V3|Q8TCL8	Missense_Mutation	SNP	ENST00000478136.1	37	c.241C>T	CCDS54606.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.576237	0.45902	.	.	ENSG00000183662	ENST00000478136;ENST00000496687	.	.	.	5.55	-1.67	0.08238	.	0.112355	0.64402	D	0.000019	T	0.58878	0.2153	L	0.47190	1.495	0.29526	N	0.853169	D	0.76494	0.999	D	0.65684	0.937	T	0.66909	-0.5804	9	0.87932	D	0	.	19.0729	0.93147	0.8227:0.1773:0.0:0.0	.	81	Q7Z5A9	F19A1_HUMAN	W	81	.	ENSP00000418575:R81W	R	+	1	2	FAM19A1	68549242	1.000000	0.71417	0.914000	0.36105	0.164000	0.22412	1.842000	0.39250	-0.192000	0.10432	-0.282000	0.10007	CGG		0.418	FAM19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352004.1	NM_213609	
HPS3	84343	broad.mit.edu	37	3	148868422	148868422	+	Silent	SNP	G	G	A	rs377368442		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr3:148868422G>A	ENST00000296051.2	+	6	1340	c.1200G>A	c.(1198-1200)gcG>gcA	p.A400A	HPS3_ENST00000460120.1_Silent_p.A235A	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	400					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GGTGCAGTGCGGCGGCAGCTC	0.532									Hermansky-Pudlak syndrome																													uc003ewu.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(1198-1200)gcG>gcA		Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.							127.0	112.0	117.0					3																	148868422		2203	4300	6503	SO:0001819	synonymous_variant	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148868422G>A	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1200G>A	3.37:g.148868422G>A						HPS3_uc011bnq.1_Silent_p.A235A|HPS3_uc021xfk.1_Silent_p.A293A	p.A400A	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		5	1340	+			400					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	ENST00000296051.2	37	c.1200G>A	CCDS3140.1																																																																																				0.532	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383	
CP	1356	broad.mit.edu	37	3	148925268	148925268	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr3:148925268G>T	ENST00000264613.6	-	5	1180	c.918C>A	c.(916-918)aaC>aaA	p.N306K		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	306	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GGTAGTTCTTGTTAGTCAGTG	0.458																																						uc003ewy.4																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(916-918)aaC>aaA		Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	Drotrecogin alfa(DB00055)						142.0	125.0	131.0					3																	148925268		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148925268G>T	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.918C>A	3.37:g.148925268G>T	ENSP00000264613:p.Asn306Lys					CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.N87K|CP_uc003ewz.3_Missense_Mutation_p.N306K|CP_uc010hvf.1_Missense_Mutation_p.N32K	p.N306K	NM_000096	NP_000087	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		4	1171	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	306			F5/8 type A 1.|Plastocyanin-like 2.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.918C>A	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	G	0.789	-0.759466	0.03019	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.82255	-1.59;-1.59	5.82	0.613	0.17597	Cupredoxin (2);Multicopper oxidase, type 1 (1);	0.444505	0.27986	N	0.017050	T	0.73321	0.3572	N	0.19112	0.55	0.21220	N	0.999754	P;P;P;P	0.36837	0.571;0.571;0.571;0.549	B;P;B;B	0.45660	0.368;0.489;0.368;0.368	T	0.63422	-0.6641	10	0.27082	T	0.32	-12.3054	8.683	0.34221	0.2152:0.0:0.6538:0.131	.	306;306;306;306	A5PL27;A8K5A4;P00450;Q1L857	.;.;CERU_HUMAN;.	K	306;89	ENSP00000264613:N306K;ENSP00000420545:N89K	ENSP00000264613:N306K	N	-	3	2	CP	150407958	0.854000	0.29725	0.389000	0.26208	0.309000	0.27889	-0.012000	0.12699	0.288000	0.22398	0.555000	0.69702	AAC		0.458	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096	
SAMD7	344658	broad.mit.edu	37	3	169654200	169654200	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr3:169654200G>C	ENST00000428432.2	+	8	1504	c.1115G>C	c.(1114-1116)gGa>gCa	p.G372A	RP11-379K17.4_ENST00000487580.1_RNA|SAMD7_ENST00000335556.3_Missense_Mutation_p.G372A	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	372	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GGCACTATGGGATTAAAGCTA	0.343																																						uc003fgd.3																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1114-1116)gGa>gCa		Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.							85.0	86.0	85.0					3																	169654200		2203	4300	6503	SO:0001583	missense	344658							g.chr3:169654200G>C	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.1115G>C	3.37:g.169654200G>C	ENSP00000391299:p.Gly372Ala					SAMD7_uc003fge.3_Missense_Mutation_p.G372A|SAMD7_uc011bpo.2_Missense_Mutation_p.G273A	p.G372A	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		7	1382	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		372			SAM.			Missense_Mutation	SNP	ENST00000428432.2	37	c.1115G>C	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119019	0.77323	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.63417	-0.04;-0.04	5.34	5.34	0.76211	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.84492	0.5484	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87986	0.2746	10	0.66056	D	0.02	-21.7717	18.6326	0.91366	0.0:0.0:1.0:0.0	.	372	Q7Z3H4	SAMD7_HUMAN	A	372	ENSP00000391299:G372A;ENSP00000334668:G372A	ENSP00000334668:G372A	G	+	2	0	SAMD7	171136894	1.000000	0.71417	0.998000	0.56505	0.536000	0.34869	9.001000	0.93568	2.512000	0.84698	0.491000	0.48974	GGA		0.343	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610	
PCDHB12	56124	broad.mit.edu	37	5	140589502	140589502	+	Silent	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr5:140589502C>T	ENST00000239450.2	+	1	1212	c.1023C>T	c.(1021-1023)aaC>aaT	p.N341N	PCDHB12_ENST00000541609.1_Silent_p.N4N	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	341	Cadherin 3. {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)			TGGATGTAAACGACAACGCTC	0.413																																						uc003liz.3																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1021-1023)aaC>aaT		Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.							85.0	84.0	85.0					5																	140589502		2202	4300	6502	SO:0001819	synonymous_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589502C>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.1023C>T	5.37:g.140589502C>T						PCDHB12_uc011dak.2_Silent_p.N4N	p.N341N	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1212	+			341			Cadherin 3.		B4DDU1	Silent	SNP	ENST00000239450.2	37	c.1023C>T	CCDS4254.1																																																																																				0.413	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932	
GFPT2	9945	broad.mit.edu	37	5	179731784	179731784	+	Silent	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr5:179731784G>A	ENST00000253778.8	-	17	1999	c.1830C>T	c.(1828-1830)gtC>gtT	p.V610V		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	610	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GGCGGGCCGTGACTTGCTGCA	0.592																																						uc003mlw.1																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1828-1830)gtC>gtT		Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	L-Glutamine(DB00130)						133.0	149.0	144.0					5																	179731784		2064	4206	6270	SO:0001819	synonymous_variant	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179731784G>A	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1830C>T	5.37:g.179731784G>A							p.V610V	NM_005110	NP_005101	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	1928	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	610			SIS 2.		Q53XM2|Q9BWS4	Silent	SNP	ENST00000253778.8	37	c.1830C>T	CCDS43411.1																																																																																				0.592	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110	
GFPT2	9945	broad.mit.edu	37	5	179731922	179731922	+	Silent	SNP	G	G	C			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr5:179731922G>C	ENST00000253778.8	-	17	1861	c.1692C>G	c.(1690-1692)acC>acG	p.T564T		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	564	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	AGTGCATGTAGGTTATCTCTT	0.537																																						uc003mlw.1																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1690-1692)acC>acG		Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	L-Glutamine(DB00130)						112.0	117.0	115.0					5																	179731922		2027	4192	6219	SO:0001819	synonymous_variant	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179731922G>C	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1692C>G	5.37:g.179731922G>C							p.T564T	NM_005110	NP_005101	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	1790	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	564			SIS 2.		Q53XM2|Q9BWS4	Silent	SNP	ENST00000253778.8	37	c.1692C>G	CCDS43411.1																																																																																				0.537	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110	
VARS2	57176	broad.mit.edu	37	6	30883807	30883807	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr6:30883807G>T	ENST00000321897.5	+	5	1188	c.556G>T	c.(556-558)Gca>Tca	p.A186S	VARS2_ENST00000542001.1_Missense_Mutation_p.A46S|VARS2_ENST00000541562.1_Missense_Mutation_p.A216S|VARS2_ENST00000416670.2_Missense_Mutation_p.A186S			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	186					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TTCAGATCATGCAGGAATTGC	0.478																																						uc011dmz.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(646-648)Gca>Tca		Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.							264.0	240.0	248.0					6																	30883807		2203	4300	6503	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30883807G>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.556G>T	6.37:g.30883807G>T	ENSP00000316092:p.Ala186Ser					VARS2_uc003nsc.2_Missense_Mutation_p.A186S|VARS2_uc003nsd.3_Missense_Mutation_p.A186S|VARS2_uc011dmx.2_Missense_Mutation_p.A186S|VARS2_uc011dmy.2_Missense_Mutation_p.A46S|VARS2_uc011dna.2_Missense_Mutation_p.A186S|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_5'Flank	p.A216S	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN			5	727	+			186					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.646G>T	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979768	0.74360	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000428017;ENST00000413959;ENST00000541562	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	4.5	4.5	0.54988	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.51787	0.1695	M	0.90977	3.165	0.51482	D	0.999929	D;D;D	0.89917	0.995;0.994;1.0	D;D;D	0.79108	0.984;0.935;0.992	T	0.64002	-0.6509	10	0.87932	D	0	-11.292	14.7692	0.69662	0.0:0.0:1.0:0.0	.	186;216;186	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	S	186;186;46;186;186;216	ENSP00000316092:A186S;ENSP00000394802:A186S;ENSP00000438200:A46S;ENSP00000403749:A186S;ENSP00000441000:A216S	ENSP00000316092:A186S	A	+	1	0	VARS2	30991786	1.000000	0.71417	0.993000	0.49108	0.599000	0.36880	6.497000	0.73674	2.343000	0.79666	0.655000	0.94253	GCA		0.478	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442	
CLCN1	1180	broad.mit.edu	37	7	143047569	143047569	+	Splice_Site	SNP	G	G	C			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr7:143047569G>C	ENST00000343257.2	+	21	2595	c.2508G>C	c.(2506-2508)aaG>aaC	p.K836N		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	836	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCCTGCACAAGGTGAGTCTTT	0.567																																						uc003wcr.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.e21+1		Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.							151.0	117.0	129.0					7																	143047569		2203	4300	6503	SO:0001630	splice_region_variant	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143047569G>C	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2508+1G>C	7.37:g.143047569G>C						CLCN1_uc011ktc.1_Splice_Site_p.K448_splice	p.K836_splice	NM_000083	NP_000074	P35523	CLCN1_HUMAN			21	2595	+	Melanoma(164;0.205)		836			CBS 2.		A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.2508_splice	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.743681	0.49151	.	.	ENSG00000188037	ENST00000343257	D	0.88664	-2.41	4.52	2.54	0.30619	Cystathionine beta-synthase, core (1);	0.173952	0.49916	D	0.000132	D	0.91030	0.7178	M	0.92970	3.365	0.48395	D	0.999644	B;P	0.48640	0.433;0.913	B;B	0.43575	0.394;0.424	D	0.91980	0.5594	10	0.87932	D	0	.	11.2954	0.49276	0.1761:0.0:0.8239:0.0	.	35;836	Q75L28;P35523	.;CLCN1_HUMAN	N	836	ENSP00000339867:K836N	ENSP00000339867:K836N	K	+	3	2	CLCN1	142757691	1.000000	0.71417	0.994000	0.49952	0.848000	0.48234	5.774000	0.68906	1.141000	0.42275	0.462000	0.41574	AAG		0.567	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083	Missense_Mutation
WHSC1L1	54904	broad.mit.edu	37	8	38148069	38148069	+	Silent	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr8:38148069G>A	ENST00000317025.8	-	17	3559	c.3042C>T	c.(3040-3042)ggC>ggT	p.G1014G	WHSC1L1_ENST00000433384.2_Silent_p.G965G|WHSC1L1_ENST00000527502.1_Silent_p.G1014G	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1014	PWWP 2. {ECO:0000255|PROSITE- ProRule:PRU00162}.				histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GGAACACTCTGCCCTGGTGTA	0.463			T	NUP98	AML																																	uc003xli.3				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(3040-3042)ggC>ggT		Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.							181.0	171.0	174.0					8																	38148069		1898	4114	6012	SO:0001819	synonymous_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38148069G>A	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.3042C>T	8.37:g.38148069G>A						WHSC1L1_uc011lbm.2_Silent_p.G1014G|WHSC1L1_uc010lwe.3_Silent_p.G965G	p.G1014G	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		16	3560	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	1014			PWWP 2.		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Silent	SNP	ENST00000317025.8	37	c.3042C>T	CCDS43729.1																																																																																				0.463	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034	
JPH1	56704	broad.mit.edu	37	8	75171695	75171695	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr8:75171695C>T	ENST00000342232.4	-	3	1223	c.1183G>A	c.(1183-1185)Gcg>Acg	p.A395T		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	395	Ala-rich.				calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.A395T(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GCGGCCAGCGCGGCCTGGTCG	0.597																																						uc003yae.3																			1	Substitution - Missense(1)	p.A395T(2)	ovary(1)	endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1183-1185)Gcg>Acg		Homo sapiens junctophilin 1 (JPH1), mRNA.							31.0	33.0	32.0					8																	75171695		2202	4299	6501	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75171695C>T	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1183G>A	8.37:g.75171695C>T	ENSP00000344488:p.Ala395Thr					JPH1_uc003yaf.3_Missense_Mutation_p.A395T|JPH1_uc003yag.1_Missense_Mutation_p.A259T	p.A395T	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	1223	-	Breast(64;0.00576)		395			Ala-rich.		B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.1183G>A	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489664	0.64074	.	.	ENSG00000104369	ENST00000342232	T	0.77877	-1.13	5.1	5.1	0.69264	.	0.055496	0.64402	D	0.000001	T	0.76870	0.4048	M	0.84219	2.685	0.43080	D	0.994732	P	0.52842	0.956	B	0.39299	0.296	T	0.81908	-0.0717	10	0.72032	D	0.01	.	11.2516	0.49028	0.0:0.9151:0.0:0.0849	.	395	Q9HDC5	JPH1_HUMAN	T	395	ENSP00000344488:A395T	ENSP00000344488:A395T	A	-	1	0	JPH1	75334249	1.000000	0.71417	0.753000	0.31225	0.446000	0.32137	3.617000	0.54181	2.809000	0.96659	0.655000	0.94253	GCG		0.597	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1		
RALYL	138046	broad.mit.edu	37	8	85774546	85774546	+	Silent	SNP	C	C	T	rs375364868		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr8:85774546C>T	ENST00000521268.1	+	6	1534	c.429C>T	c.(427-429)caC>caT	p.H143H	RALYL_ENST00000522455.1_Silent_p.H143H|RALYL_ENST00000523850.1_Silent_p.H70H|RALYL_ENST00000517638.1_Silent_p.H156H|RALYL_ENST00000521376.1_Silent_p.H54H|RALYL_ENST00000521695.1_Silent_p.H143H|RALYL_ENST00000518566.1_Silent_p.H132H	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	143							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TTGATTACCACGGGCGTGTGC	0.483																																						uc003yct.4																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(466-468)caC>caT		Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.		C	,,,	0,3752		0,0,1876	45.0	46.0	46.0		468,429,429,429	-7.4	0.3	8		46	1,8227		0,1,4113	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RALYL	NM_001100391.1,NM_001100392.1,NM_001100393.1,NM_173848.5	,,,	0,1,5989	TT,TC,CC		0.0122,0.0,0.0083	,,,	156/305,143/292,143/292,143/292	85774546	1,11979	1876	4114	5990	SO:0001819	synonymous_variant	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85774546C>T		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.429C>T	8.37:g.85774546C>T						RALYL_uc003ycq.4_Silent_p.H143H|RALYL_uc003ycr.4_Silent_p.H143H|RALYL_uc003ycs.4_Silent_p.H143H|RALYL_uc010lzy.3_Silent_p.H132H|RALYL_uc003ycu.4_Silent_p.H70H	p.H156H	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN			5	602	+			143					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Silent	SNP	ENST00000521268.1	37	c.468C>T	CCDS55253.1																																																																																				0.483	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1		
CORO2A	7464	broad.mit.edu	37	9	100897128	100897128	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr9:100897128G>A	ENST00000343933.5	-	4	685	c.428C>T	c.(427-429)aCg>aTg	p.T143M	CORO2A_ENST00000375077.4_Missense_Mutation_p.T143M	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	143					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GTTGGCGGCCGTGGGGTGCCA	0.587																																						uc004aym.3																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26						c.(427-429)aCg>aTg		Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.							57.0	52.0	54.0					9																	100897128		2203	4300	6503	SO:0001583	missense	7464				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	g.chr9:100897128G>A	U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.428C>T	9.37:g.100897128G>A	ENSP00000343746:p.Thr143Met					CORO2A_uc004ayl.3_Missense_Mutation_p.T143M	p.T143M	NM_052820	NP_438171	Q92828	COR2A_HUMAN			3	544	-		Acute lymphoblastic leukemia(62;0.0559)	143					Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	ENST00000343933.5	37	c.428C>T	CCDS6735.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042082	0.93685	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.60672	0.17;0.17	5.52	5.52	0.82312	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	0.77046	0.4073	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78455	-0.2197	10	0.87932	D	0	-18.148	18.3764	0.90437	0.0:0.0:1.0:0.0	.	143	Q92828	COR2A_HUMAN	M	143	ENSP00000343746:T143M;ENSP00000364218:T143M	ENSP00000343746:T143M	T	-	2	0	CORO2A	99936949	1.000000	0.71417	0.974000	0.42286	0.959000	0.62525	9.535000	0.98064	2.878000	0.98634	0.650000	0.86243	ACG		0.587	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389	
RAB9A	9367	broad.mit.edu	37	X	13727279	13727279	+	Silent	SNP	C	C	G	rs146572677	byFrequency	TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chrX:13727279C>G	ENST00000464506.1	+	3	693	c.414C>G	c.(412-414)gcC>gcG	p.A138A	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	138					GTP catabolic process (GO:0006184)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CAGAAGAAGCCCAAGCTTGGT	0.458																																						uc022bte.1																			0		p.A138V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(412-414)gcC>gcG		Homo sapiens RAB9A, member RAS oncogene family (RAB9A), transcript variant 1, mRNA.		C	,	0,3835		0,0,0,1632,571	103.0	103.0	103.0		414,414	-0.6	1.0	X	dbSNP_134	103	13,6715		0,9,4,2419,1868	no	coding-synonymous,coding-synonymous	RAB9A	NM_001195328.1,NM_004251.4	,	0,9,4,4051,2439	GG,GC,G,CC,C		0.1932,0.0,0.1231	,	138/202,138/202	13727279	13,10550	2203	4300	6503	SO:0001819	synonymous_variant	9367				protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chrX:13727279C>G	U44103	CCDS14156.1	Xp22.2	2010-04-19	2007-01-15	2007-01-15	ENSG00000123595	ENSG00000123595		"""RAB, member RAS oncogene"""	9792	protein-coding gene	gene with protein product		300284	"""RAB9, member RAS oncogene family"""	RAB9		9126495	Standard	NM_004251		Approved		uc010neh.3	P51151	OTTHUMG00000021156	ENST00000464506.1:c.414C>G	X.37:g.13727279C>G						RAB9A_uc004cvm.3_Silent_p.A138A|RAB9A_uc010neh.3_Silent_p.A138A	p.A138A	NM_004251	NP_004242	P51151	RAB9A_HUMAN			0	414	+			138					A8K390|Q6ICN1	Silent	SNP	ENST00000464506.1	37	c.414C>G	CCDS14156.1																																																																																				0.458	RAB9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055802.1	NM_004251	
