#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HTR3C	170572	broad.mit.edu	37	3	183777748	183777748	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr3:183777748A>T	ENST00000318351.1	+	8	1092	c.1058A>T	c.(1057-1059)cAc>cTc	p.H353L		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	353					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CTGCTGCTCCACTGCACCAGC	0.642																																						uc003fmk.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(1057-1059)cAc>cTc		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.							67.0	62.0	64.0					3																	183777748		2203	4295	6498	SO:0001583	missense	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183777748A>T	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.1058A>T	3.37:g.183777748A>T	ENSP00000322617:p.His353Leu						p.H353L	NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	1092	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		353					A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	c.1058A>T	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	A	9.081	0.999307	0.19121	.	.	ENSG00000178084	ENST00000318351	D	0.85556	-2.0	3.68	-1.93	0.07594	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.318280	0.01627	N	0.023341	D	0.84960	0.5588	M	0.66939	2.045	0.09310	N	1	B	0.23316	0.083	B	0.39339	0.297	T	0.64719	-0.6341	10	0.51188	T	0.08	.	0.5472	0.00656	0.4367:0.1769:0.2146:0.1718	.	353	Q8WXA8	5HT3C_HUMAN	L	353	ENSP00000322617:H353L	ENSP00000322617:H353L	H	+	2	0	HTR3C	185260442	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.662000	0.05305	-0.221000	0.09973	-1.400000	0.01143	CAC		0.642	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		23	50	0	0	0	1	0	23	50				
TEP1	7011	broad.mit.edu	37	14	20869182	20869182	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr14:20869182G>T	ENST00000262715.5	-	9	1550	c.1510C>A	c.(1510-1512)Cta>Ata	p.L504I	TEP1_ENST00000556935.1_Missense_Mutation_p.L396I	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	504	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTCCCCCGTAGGCTCAGCTCC	0.547																																						uc001vxe.3																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(1510-1512)Cta>Ata		Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.							142.0	117.0	125.0					14																	20869182		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20869182G>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1510C>A	14.37:g.20869182G>T	ENSP00000262715:p.Leu504Ile					TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.L396I	p.L504I	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	8	1550	-	all_cancers(95;0.00123)	all_lung(585;0.235)	504			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.1510C>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425462	0.62733	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.14893	2.47;2.47	5.71	1.56	0.23342	TROVE (2);	0.270585	0.30658	N	0.009141	T	0.30947	0.0781	M	0.73962	2.25	0.43430	D	0.995591	P;D	0.57571	0.879;0.98	P;P	0.59703	0.662;0.862	T	0.01786	-1.1274	10	0.56958	D	0.05	-6.154	6.0473	0.19768	0.3145:0.1397:0.5458:0.0	.	396;504	G3V5X7;Q99973	.;TEP1_HUMAN	I	504;504;396	ENSP00000262715:L504I;ENSP00000452574:L396I	ENSP00000262715:L504I	L	-	1	2	TEP1	19939022	0.886000	0.30341	0.245000	0.24217	0.681000	0.39784	1.160000	0.31761	-0.003000	0.14444	0.555000	0.69702	CTA		0.547	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		51	107	0	0	0	1	0	51	107				
SMIM21	284274	broad.mit.edu	37	18	73130763	73130763	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr18:73130763T>C	ENST00000579022.1	-	2	377	c.238A>G	c.(238-240)Agg>Ggg	p.R80G	RP11-321M21.3_ENST00000579386.1_Intron|SMIM21_ENST00000584508.1_Missense_Mutation_p.R80G|RP11-321M21.3_ENST00000578340.1_Intron|SMIM21_ENST00000382638.3_Intron	NM_001037331.2	NP_001032408.1	Q3B7S5	SMI21_HUMAN	small integral membrane protein 21	80						integral component of membrane (GO:0016021)		p.R80G(1)									ctgttggcccttttccagtct	0.368																																						uc002lma.1																			1	Substitution - Missense(1)	p.R80G(2)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(238-240)Agg>Ggg		Homo sapiens chromosome 18 open reading frame 62 (C18orf62), mRNA.							136.0	131.0	133.0					18																	73130763		2203	4300	6503	SO:0001583	missense	284274					integral to membrane		g.chr18:73130763T>C		CCDS32845.1	18q23	2013-03-11	2013-03-11	2013-03-11	ENSG00000206026	ENSG00000206026			27598	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 62"""	C18orf62			Standard	NM_001037331		Approved		uc002lma.1	Q3B7S5	OTTHUMG00000179126	ENST00000579022.1:c.238A>G	18.37:g.73130763T>C	ENSP00000462106:p.Arg80Gly					C18orf62_uc010dqw.1_Intron|C18orf62_uc002lmb.1_Non-coding_Transcript	p.R80G	NM_001037331	NP_001032408	Q3B7S5	CR062_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.21e-06)	1	309	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)	80						Missense_Mutation	SNP	ENST00000579022.1	37	c.238A>G	CCDS32845.1	.	.	.	.	.	.	.	.	.	.	T	4.260	0.047263	0.08243	.	.	ENSG00000206026	ENST00000382638	.	.	.	2.47	-1.31	0.09230	.	.	.	.	.	T	0.16938	0.0407	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25710	-1.0124	8	0.87932	D	0	.	5.9114	0.19031	0.0:0.5421:0.0:0.4579	.	80	Q3B7S5	CR062_HUMAN	G	80	.	ENSP00000372083:R80G	R	-	1	2	C18orf62	71259751	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	0.070000	0.14573	0.345000	0.23873	0.477000	0.44152	AGG		0.368	SMIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444917.1	NM_001037331		3	199	0	0	0	1	0	3	199				
SSFA2	6744	broad.mit.edu	37	2	182783539	182783539	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr2:182783539A>G	ENST00000431877.2	+	13	3102	c.2923A>G	c.(2923-2925)Atg>Gtg	p.M975V	SSFA2_ENST00000409001.1_Missense_Mutation_p.M975V|SSFA2_ENST00000409136.1_Missense_Mutation_p.M484V|SSFA2_ENST00000320370.7_Missense_Mutation_p.M975V|SSFA2_ENST00000428267.2_Missense_Mutation_p.M822V	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	975						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TAGAACACAAATGATGGATTT	0.373																																						uc002uoi.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(2923-2925)Atg>Gtg		Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.							70.0	71.0	71.0					2																	182783539		2203	4300	6503	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182783539A>G	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2923A>G	2.37:g.182783539A>G	ENSP00000388731:p.Met975Val					SSFA2_uc002uoh.3_Missense_Mutation_p.M975V|SSFA2_uc002uoj.3_Missense_Mutation_p.M975V|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.M822V|SSFA2_uc002uol.3_Missense_Mutation_p.M822V|SSFA2_uc002uom.3_Missense_Mutation_p.M443V	p.M975V	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		12	3245	+			975					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.2923A>G	CCDS46467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.8|21.8	4.208844|4.208844	0.79240|0.79240	.|.	.|.	ENSG00000138434|ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136|ENST00000457421	T;T;T;T;T|.	0.34072|.	1.38;1.38;1.38;1.38;1.38|.	6.11|6.11	6.11|6.11	0.99139|0.99139	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75968|0.75968	0.3922|0.3922	M|M	0.74881|0.74881	2.28|2.28	0.54753|0.54753	D|D	0.999985|0.999985	D;D;D;D;D|.	0.71674|.	0.998;0.99;0.998;0.998;0.998|.	D;D;D;D;D|.	0.76071|.	0.987;0.979;0.987;0.987;0.987|.	T|T	0.75844|0.75844	-0.3174|-0.3174	10|5	0.56958|.	D|.	0.05|.	-19.6247|-19.6247	16.7021|16.7021	0.85357|0.85357	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	822;484;975;975;975|.	E7END2;E7EUL7;E9PHV5;P28290;P28290-3|.	.;.;.;SSFA2_HUMAN;.|.	V|S	975;975;975;822;484|13	ENSP00000388731:M975V;ENSP00000314669:M975V;ENSP00000387319:M975V;ENSP00000409867:M822V;ENSP00000386916:M484V|.	ENSP00000314669:M975V|.	M|N	+|+	1|2	0|0	SSFA2|SSFA2	182491784|182491784	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.810000|7.810000	0.86072|0.86072	2.343000|2.343000	0.79666|0.79666	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.373	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		3	99	0	0	0	1	0	3	99				
VN1R1	57191	broad.mit.edu	37	19	57967675	57967675	+	Silent	SNP	G	G	A			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr19:57967675G>A	ENST00000321039.3	-	1	179	c.180C>T	c.(178-180)atC>atT	p.I60I	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	60					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		AATTTCCCAGGATCCCAACTC	0.413																																						uc002qos.2																			0		p.G59E(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(178-180)atC>atT		Homo sapiens vomeronasal 1 receptor 1 (VN1R1), mRNA.							51.0	52.0	52.0					19																	57967675		2203	4300	6503	SO:0001819	synonymous_variant	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57967675G>A	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.180C>T	19.37:g.57967675G>A							p.I60I	NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	0	433	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	60					B3KSV5|Q7Z5H8|Q7Z5H9	Silent	SNP	ENST00000321039.3	37	c.180C>T	CCDS12951.1																																																																																				0.413	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		14	88	0	0	0	1	0	14	88				
DDX3Y	8653	broad.mit.edu	37	Y	15024673	15024673	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chrY:15024673A>G	ENST00000336079.3	+	5	422	c.316A>G	c.(316-318)Att>Gtt	p.I106V	DDX3Y_ENST00000360160.4_Missense_Mutation_p.I106V	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	106						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						CTATGATGGTATTGGCAATCG	0.433																																						uc004fsu.1																			0				kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(316-318)Att>Gtt		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked (DDX3Y), transcript variant 1, mRNA.							132.0	130.0	130.0					Y																	15024673		629	2001	2630	SO:0001583	missense	8653					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding	g.chrY:15024673A>G	AF000984	CCDS14782.1	Yq11	2013-07-16	2013-07-16	2003-06-20	ENSG00000067048	ENSG00000067048		"""DEAD-boxes"""	2699	protein-coding gene	gene with protein product		400010	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"""	DBY		9381176	Standard	NM_004660		Approved		uc004fsv.2	O15523	OTTHUMG00000036324	ENST00000336079.3:c.316A>G	Y.37:g.15024673A>G	ENSP00000336725:p.Ile106Val					DDX3Y_uc010nwv.1_Missense_Mutation_p.I106V|DDX3Y_uc011naq.1_Missense_Mutation_p.I106V|DDX3Y_uc004fsv.2_Missense_Mutation_p.I106V|DDX3Y_uc010nww.1_Intron|DDX3Y_uc011nar.1_Missense_Mutation_p.I103V	p.I106V	NM_001122665	NP_004651	O15523	DDX3Y_HUMAN			5	625	+			106					B4DK29|B4DXX7|Q8IYV7	Missense_Mutation	SNP	ENST00000336079.3	37	c.316A>G	CCDS14782.1																																																																																				0.433	DDX3Y-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088407.1	NM_004660		4	65	0	0	0	1	0	4	65				
INO80	54617	broad.mit.edu	37	15	41364115	41364115	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr15:41364115T>C	ENST00000361937.3	-	12	1961	c.1537A>G	c.(1537-1539)Att>Gtt	p.I513V	INO80_ENST00000401393.3_Missense_Mutation_p.I513V			Q9ULG1	INO80_HUMAN	INO80 complex subunit	513	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCATTAAAAATTGTGGGCTGT	0.448																																						uc001zni.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1537-1539)Att>Gtt		Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.							101.0	107.0	105.0					15																	41364115		2203	4300	6503	SO:0001583	missense	54617				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding	g.chr15:41364115T>C	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.1537A>G	15.37:g.41364115T>C	ENSP00000355205:p.Ile513Val					INO80_uc010ucu.2_Non-coding_Transcript	p.I513V	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			11	1750	-			513			Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.1537A>G	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.653972	0.67472	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.93247	-3.19;-3.19	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.90841	0.7123	M	0.61703	1.905	0.54753	D	0.999987	P	0.41947	0.766	B	0.34346	0.18	D	0.92032	0.5634	10	0.72032	D	0.01	.	14.8253	0.70107	0.0:0.0:0.0:1.0	.	513	Q9ULG1	INO80_HUMAN	V	513	ENSP00000355205:I513V;ENSP00000384686:I513V	ENSP00000355205:I513V	I	-	1	0	INO80	39151407	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.111000	0.50360	2.096000	0.63516	0.529000	0.55759	ATT		0.448	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		3	218	0	0	0	1	0	3	218				
BSG	682	broad.mit.edu	37	19	579410	579410	+	Intron	SNP	C	C	T	rs568226979		TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr19:579410C>T	ENST00000333511.3	+	3	485				BSG_ENST00000574970.1_Intron|BSG_ENST00000545507.2_Intron|BSG_ENST00000353555.4_Intron|BSG_ENST00000346916.4_Intron	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)						blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTCCTTCCCGGGGAGGAGC	0.677													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15741	0.0		0.0	False		,,,				2504	0.0					uc002lpc.3																			0				central_nervous_system(1)|endometrium(3)|lung(1)	5						c.(466-468)cCg>cTg		Homo sapiens basigin (Ok blood group) (BSG), transcript variant 2, mRNA.																																				SO:0001627	intron_variant	682				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding	g.chr19:579410C>T	L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.416-90C>T	19.37:g.579410C>T						BSG_uc002loy.3_Intron|BSG_uc021ulx.1_Intron|BSG_uc002loz.3_Intron|BSG_uc002lpa.3_Intron	p.P156L	NM_198589	NP_940991	P35613	BASI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	0	561	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	0			Ig-like C2-type.		A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	ENST00000333511.3	37	c.467C>T	CCDS12033.1																																																																																				0.677	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	NM_001728		4	38	0	0	0	1	0	4	38				
CDH8	1006	broad.mit.edu	37	16	61687826	61687826	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr16:61687826G>C	ENST00000577390.1	-	12	3040	c.2086C>G	c.(2086-2088)Ccc>Gcc	p.P696A	CDH8_ENST00000299345.6_Missense_Mutation_p.P696A|CDH8_ENST00000577730.1_Missense_Mutation_p.P696A	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	696					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCCTTACGGGGTAAAAATCCA	0.408																																						uc002eog.2																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(2086-2088)Ccc>Gcc		Homo sapiens cadherin 8, type 2 (CDH8), mRNA.							106.0	104.0	105.0					16																	61687826		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687826G>C	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.2086C>G	16.37:g.61687826G>C	ENSP00000462701:p.Pro696Ala						p.P696A	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	11	3041	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	696					B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.2086C>G	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	7.723	0.697656	0.15106	.	.	ENSG00000150394	ENST00000299345	T	0.75704	-0.96	5.7	5.7	0.88788	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.73853	0.3640	L	0.53249	1.67	0.80722	D	1	B	0.23249	0.082	B	0.33568	0.166	T	0.67313	-0.5702	10	0.16420	T	0.52	.	18.8311	0.92139	0.0:0.0:1.0:0.0	.	696	P55286	CADH8_HUMAN	A	696	ENSP00000299345:P696A	ENSP00000299345:P696A	P	-	1	0	CDH8	60245327	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.587000	0.82613	2.679000	0.91253	0.655000	0.94253	CCC		0.408	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		39	188	0	0	0	1	0	39	188				
SUGCT	79783	broad.mit.edu	37	7	40899976	40899976	+	Silent	SNP	G	G	A			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr7:40899976G>A	ENST00000335693.4	+	14	1259	c.1236G>A	c.(1234-1236)ggG>ggA	p.G412G	C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000309930.5_Silent_p.G438G|C7orf10_ENST00000401647.2_Silent_p.G364G	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		412					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CGCTGCTCGGGCAGCACACAA	0.572																																						uc022acd.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(1312-1314)ggG>ggA		Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.							99.0	110.0	106.0					7																	40899976		2107	4229	6336	SO:0001819	synonymous_variant	79783						transferase activity	g.chr7:40899976G>A																												ENST00000335693.4:c.1236G>A	7.37:g.40899976G>A						C7orf10_uc003thn.2_Silent_p.G412G|C7orf10_uc003tho.2_Silent_p.G364G|C7orf10_uc003thp.2_Non-coding_Transcript	p.G438G	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN			14	1338	+			412					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Silent	SNP	ENST00000335693.4	37	c.1314G>A	CCDS55105.1																																																																																				0.572	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			11	285	0	0	0	1	0	11	285				
HUS1	3364	broad.mit.edu	37	7	48016402	48016402	+	Silent	SNP	G	G	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr7:48016402G>T	ENST00000258774.5	-	4	413	c.390C>A	c.(388-390)acC>acA	p.T130T	HUS1_ENST00000432325.1_Silent_p.T109T	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	130					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				GGATGTCATGGGTCACAATGC	0.408								Direct reversal of damage;Other conserved DNA damage response genes																													Ovarian(103;466 1517 21788 34610 43890)	uc003tod.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13						c.(388-390)acC>acA	Direct reversal of damage;Other conserved DNA damage response genes	Homo sapiens HUS1 checkpoint homolog (S. pombe) (HUS1), transcript variant 1, mRNA.							181.0	167.0	172.0					7																	48016402		2203	4300	6503	SO:0001819	synonymous_variant	3364				DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding	g.chr7:48016402G>T	Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"""hus1+-like protein"""	603760	"""HUS1 (S. pombe) checkpoint homolog"""			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.390C>A	7.37:g.48016402G>T							p.T130T	NM_004507	NP_004498	O60921	HUS1_HUMAN			3	496	-		Breast(660;0.00139)	130					B4DFI9	Silent	SNP	ENST00000258774.5	37	c.390C>A	CCDS34635.1																																																																																				0.408	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1	NM_004507		7	247	0	0	0	1	0	7	247				
A2ML1	144568	broad.mit.edu	37	12	9013729	9013729	+	Splice_Site	SNP	A	A	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr12:9013729A>G	ENST00000299698.7	+	28	3519		c.e28-1		A2ML1_ENST00000539547.1_Splice_Site	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTCACTTTTTAGGACCCAATG	0.433																																						uc001quz.4																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.e28-2		Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.							116.0	118.0	117.0					12																	9013729		1941	4139	6080	SO:0001630	splice_region_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9013729A>G	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3340-1A>G	12.37:g.9013729A>G						A2ML1_uc001qva.1_Splice_Site_p.D694_splice|A2ML1_uc010sgm.2_Splice_Site_p.D614_splice	p.D1114_splice	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN			28	3438	+			958						Splice_Site	SNP	ENST00000299698.7	37	c.3340_splice	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	A	14.64	2.595175	0.46318	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	.	.	.	3.45	2.28	0.28536	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.43	0.38604	0.8204:0.1796:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	A2ML1	8904996	1.000000	0.71417	0.677000	0.29947	0.819000	0.46315	7.399000	0.79935	0.680000	0.31366	0.460000	0.39030	.		0.433	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670	Intron	3	193	0	0	0	1	0	3	193				
ZFAND3	60685	broad.mit.edu	37	6	38029485	38029485	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr6:38029485A>G	ENST00000287218.4	+	3	676	c.229A>G	c.(229-231)Act>Gct	p.T77A	ZFAND3_ENST00000373391.2_Missense_Mutation_p.T77A	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	77							DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						AACCACGCCAACTCTTAGTCC	0.493																																						uc003onx.3																			0				endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						c.(229-231)Act>Gct		Homo sapiens zinc finger, AN1-type domain 3 (ZFAND3), mRNA.							97.0	84.0	88.0					6																	38029485		2203	4300	6503	SO:0001583	missense	60685						DNA binding|zinc ion binding	g.chr6:38029485A>G	AK023284	CCDS4836.1	6p21.2	2013-09-19	2005-12-15	2005-12-15	ENSG00000156639	ENSG00000156639		"""Zinc fingers, AN1-type domain containing"""	18019	protein-coding gene	gene with protein product		607455	"""testis expressed sequence 27"""	TEX27			Standard	NM_021943		Approved	FLJ13222	uc003onx.3	Q9H8U3	OTTHUMG00000014629	ENST00000287218.4:c.229A>G	6.37:g.38029485A>G	ENSP00000287218:p.Thr77Ala						p.T77A	NM_021943	NP_068762	Q9H8U3	ZFAN3_HUMAN			2	644	+			77					Q5SZZ0|Q5SZZ1	Missense_Mutation	SNP	ENST00000287218.4	37	c.229A>G	CCDS4836.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.24|12.24	1.877352|1.877352	0.33162|0.33162	.|.	.|.	ENSG00000156639|ENSG00000156639	ENST00000373389|ENST00000287218;ENST00000373391;ENST00000474522	.|T	.|0.41758	.|0.99	5.43|5.43	4.27|4.27	0.50696|0.50696	.|.	.|0.370552	.|0.30252	.|N	.|0.010043	T|T	0.07548|0.07548	0.0190|0.0190	N|N	0.08118|0.08118	0|0	0.38547|0.38547	D|D	0.949361|0.949361	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.18524|0.18524	-1.0334|-1.0334	5|10	.|0.09084	.|T	.|0.74	-0.7091|-0.7091	9.3104|9.3104	0.37900|0.37900	0.8419:0.0:0.1581:0.0|0.8419:0.0:0.1581:0.0	.|.	.|77	.|Q9H8U3	.|ZFAN3_HUMAN	S|A	53|77;77;108	.|ENSP00000420240:T108A	.|ENSP00000287218:T77A	N|T	+|+	2|1	0|0	ZFAND3|ZFAND3	38137463|38137463	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.317000|2.317000	0.43770|0.43770	1.000000|1.000000	0.39049|0.39049	0.383000|0.383000	0.25322|0.25322	AAC|ACT		0.493	ZFAND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040424.3	NM_021943		15	49	0	0	0	1	0	15	49				
FRYL	285527	broad.mit.edu	37	4	48591854	48591854	+	Silent	SNP	A	A	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr4:48591854A>G	ENST00000503238.1	-	15	1547	c.1548T>C	c.(1546-1548)gaT>gaC	p.D516D	FRYL_ENST00000537810.1_Silent_p.D516D|FRYL_ENST00000358350.4_Silent_p.D516D|FRYL_ENST00000507711.1_Silent_p.D516D|FRYL_ENST00000506685.1_Silent_p.D222D|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	516					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGAGGATGCTATCTAATGCTT	0.353																																						uc003gyh.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(1546-1548)gaT>gaC		Homo sapiens FRY-like (FRYL), mRNA.							186.0	171.0	176.0					4																	48591854		1861	4102	5963	SO:0001819	synonymous_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48591854A>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1548T>C	4.37:g.48591854A>G						FRYL_uc003gyk.3_Silent_p.D516D	p.D516D	NM_015030	NP_055845	O94915	FRYL_HUMAN			17	2153	-			516					O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	c.1548T>C	CCDS43227.1																																																																																				0.353	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			4	249	0	0	0	1	0	4	249				
FRMPD2	143162	broad.mit.edu	37	10	49409405	49409405	+	Missense_Mutation	SNP	C	C	T	rs540210045		TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr10:49409405C>T	ENST00000374201.3	-	15	2122	c.1820G>A	c.(1819-1821)aGc>aAc	p.S607N	FRMPD2_ENST00000305531.3_Missense_Mutation_p.S582N|FRMPD2_ENST00000407470.4_Missense_Mutation_p.S575N	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	607	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AGTGACACTGCTTGTGATGGT	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		18843	0.001		0.0	False		,,,				2504	0.0					uc001jgi.3																			0				NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.(1819-1821)aGc>aAc		Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.							202.0	166.0	178.0					10																	49409405		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49409405C>T	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1820G>A	10.37:g.49409405C>T	ENSP00000363317:p.Ser607Asn					FRMPD2_uc001jgh.3_Missense_Mutation_p.S575N|FRMPD2_uc001jgj.3_Missense_Mutation_p.S576N	p.S607N	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	14	2151	-			607			FERM.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.1820G>A	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905214	0.52333	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	D;D;D	0.82081	-1.57;-1.57;-1.57	5.16	5.16	0.70880	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	.	.	.	.	D	0.86928	0.6051	L	0.41236	1.265	0.39178	D	0.96272	D;P;D	0.89917	1.0;0.771;1.0	D;B;D	0.85130	0.997;0.348;0.997	D	0.83824	0.0248	9	0.18710	T	0.47	.	18.0012	0.89198	0.0:1.0:0.0:0.0	.	582;607;575	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	N	607;582;575	ENSP00000363317:S607N;ENSP00000307079:S582N;ENSP00000384339:S575N	ENSP00000307079:S582N	S	-	2	0	FRMPD2	49079411	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.146000	0.64845	2.585000	0.87301	0.655000	0.94253	AGC		0.453	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		52	170	0	0	0	1	0	52	170				
AXIN1	8312	broad.mit.edu	37	16	364573	364573	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr16:364573G>A	ENST00000262320.3	-	3	1360	c.989C>T	c.(988-990)gCa>gTa	p.A330V	AXIN1_ENST00000354866.3_Missense_Mutation_p.A330V|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	330	Interaction with TP53. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CAGGGTGTCTGCATCGCTGGA	0.627																																						uc002cgp.2																			0				biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(988-990)gCa>gTa		Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.							82.0	60.0	68.0					16																	364573		2203	4300	6503	SO:0001583	missense	8312				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:364573G>A	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.989C>T	16.37:g.364573G>A	ENSP00000262320:p.Ala330Val					LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Missense_Mutation_p.A330V	p.A330V	NM_003502	NP_003493	O15169	AXIN1_HUMAN			2	1378	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	330			Interaction with TP53 (By similarity).		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.989C>T	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944483	0.73672	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	D;D	0.82619	-1.63;-1.63	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.91556	0.7333	M	0.81497	2.545	0.80722	D	1	D;P	0.89917	1.0;0.927	D;P	0.85130	0.997;0.653	D	0.91528	0.5240	10	0.48119	T	0.1	4.4309	18.8372	0.92167	0.0:0.0:1.0:0.0	.	330;330	O15169-2;O15169	.;AXIN1_HUMAN	V	330	ENSP00000262320:A330V;ENSP00000346935:A330V	ENSP00000262320:A330V	A	-	2	0	AXIN1	304574	1.000000	0.71417	0.900000	0.35374	0.898000	0.52572	9.647000	0.98478	2.449000	0.82847	0.436000	0.28706	GCA		0.627	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			14	56	0	0	0	1	0	14	56				
ZP4	57829	broad.mit.edu	37	1	238045749	238045749	+	Silent	SNP	C	C	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr1:238045749C>T	ENST00000366570.4	-	12	1754	c.1596G>A	c.(1594-1596)aaG>aaA	p.K532K	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	532					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CTGGGCAACTCTTCTGTTTCT	0.443																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.3																			0				breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(1594-1596)aaG>aaA		Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.							144.0	146.0	146.0					1																	238045749		2203	4300	6503	SO:0001819	synonymous_variant	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238045749C>T	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1596G>A	1.37:g.238045749C>T						LOC100130331_uc010pyc.2_Intron	p.K532K	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		11	1883	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	532					B2RAE1	Silent	SNP	ENST00000366570.4	37	c.1596G>A	CCDS1615.1																																																																																				0.443	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			5	209	0	0	0	1	0	5	209				
PTPRK	5796	broad.mit.edu	37	6	128540102	128540102	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr6:128540102G>A	ENST00000368215.3	-	6	832	c.833C>T	c.(832-834)tCc>tTc	p.S278F	PTPRK_ENST00000532331.1_Missense_Mutation_p.S278F|PTPRK_ENST00000368227.3_Missense_Mutation_p.S278F|PTPRK_ENST00000368226.4_Missense_Mutation_p.S278F|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.S278F|PTPRK_ENST00000368207.3_Missense_Mutation_p.S278F|PTPRK_ENST00000368213.5_Missense_Mutation_p.S278F			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	278	Ig-like C2-type.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GGACACACCGGAACCTCGTTC	0.398																																						uc011ebu.2																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(832-834)tCc>tTc		Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 1, mRNA.							160.0	142.0	148.0					6																	128540102		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128540102G>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.833C>T	6.37:g.128540102G>A	ENSP00000357198:p.Ser278Phe					PTPRK_uc010kfc.3_Missense_Mutation_p.S278F|PTPRK_uc003qbj.3_Missense_Mutation_p.S278F|PTPRK_uc003qbk.3_Missense_Mutation_p.S278F|PTPRK_uc003qbl.1_Missense_Mutation_p.S148F|PTPRK_uc011ebv.1_Missense_Mutation_p.S278F	p.S278F	NM_001135648	NP_001129120	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	5	1200	-			278			Ig-like C2-type.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.833C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.9|24.9	4.584439|4.584439	0.86748|0.86748	.|.	.|.	ENSG00000152894|ENSG00000152894	ENST00000490332|ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	.|T;T;T;T;T;T;T	.|0.16073	.|2.37;2.37;2.37;2.37;2.37;2.37;2.37	4.78|4.78	4.78|4.78	0.61160|0.61160	.|Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.20901|0.20901	0.0503|0.0503	L|L	0.48642|0.48642	1.525|1.525	0.50313|0.50313	D|D	0.999868|0.999868	.|P;D;D;D;P;P	.|0.69078	.|0.878;0.997;0.997;0.997;0.57;0.514	.|P;D;D;D;P;B	.|0.68943	.|0.73;0.961;0.935;0.921;0.567;0.431	T|T	0.03423|0.03423	-1.1038|-1.1038	5|10	.|0.12103	.|T	.|0.63	.|.	17.8323|17.8323	0.88686|0.88686	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|278;278;278;135;278;278	.|B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.|.;.;.;.;PTPRK_HUMAN;.	S|F	95|278;278;278;278;278;278;278;135	.|ENSP00000357209:S278F;ENSP00000357210:S278F;ENSP00000432973:S278F;ENSP00000357196:S278F;ENSP00000357193:S278F;ENSP00000357198:S278F;ENSP00000357190:S278F	.|ENSP00000357190:S278F	P|S	-|-	1|2	0|0	PTPRK|PTPRK	128581795|128581795	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.975000|0.975000	0.68041|0.68041	9.457000|9.457000	0.97630|0.97630	2.189000|2.189000	0.69895|0.69895	0.455000|0.455000	0.32223|0.32223	CCG|TCC		0.398	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			41	158	0	0	0	1	0	41	158				
EIF4G1	1981	broad.mit.edu	37	3	184040719	184040719	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr3:184040719A>G	ENST00000346169.2	+	13	2177	c.1906A>G	c.(1906-1908)Atc>Gtc	p.I636V	SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000392537.2_Missense_Mutation_p.I549V|EIF4G1_ENST00000319274.6_Missense_Mutation_p.I636V|EIF4G1_ENST00000342981.4_Missense_Mutation_p.I636V|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Missense_Mutation_p.I596V|EIF4G1_ENST00000424196.1_Missense_Mutation_p.I643V|EIF4G1_ENST00000441154.1_Missense_Mutation_p.I472V|EIF4G1_ENST00000435046.2_Missense_Mutation_p.I440V|EIF4G1_ENST00000427845.1_Missense_Mutation_p.I549V|EIF4G1_ENST00000414031.1_Missense_Mutation_p.I596V|EIF4G1_ENST00000350481.5_Missense_Mutation_p.I472V|EIF4G1_ENST00000352767.3_Missense_Mutation_p.I643V|EIF4G1_ENST00000434061.2_Missense_Mutation_p.I440V|EIF4G1_ENST00000382330.3_Missense_Mutation_p.I643V	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	636	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATTGCCACATATCAGTGACGT	0.507																																						uc010hxx.3																			0		p.K643N(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1927-1929)Atc>Gtc		Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 6, mRNA.							197.0	186.0	190.0					3																	184040719		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184040719A>G	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1906A>G	3.37:g.184040719A>G	ENSP00000316879:p.Ile636Val					EIF4G1_uc003fno.2_Missense_Mutation_p.I577V|EIF4G1_uc010hxw.2_Missense_Mutation_p.I472V|EIF4G1_uc003fnt.3_Missense_Mutation_p.I347V|EIF4G1_uc010hxy.3_Missense_Mutation_p.I643V|EIF4G1_uc003fnp.3_Missense_Mutation_p.I636V|EIF4G1_uc003fnq.3_Missense_Mutation_p.I549V|EIF4G1_uc003fnr.3_Missense_Mutation_p.I472V|EIF4G1_uc003fns.3_Missense_Mutation_p.I596V|EIF4G1_uc003fnv.4_Missense_Mutation_p.I636V|EIF4G1_uc003fnw.3_Missense_Mutation_p.I643V|EIF4G1_uc003fnx.3_Missense_Mutation_p.I440V|SNORD66_uc003fnz.3_5'Flank	p.I643V	NM_001194946	NP_937885	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		13	2198	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		636			MIF4G.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.1927A>G	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	A	19.92	3.916999	0.73098	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	M	0.65975	2.015	0.58432	D	0.999999	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	D;D;D;D	0.81914	0.992;0.995;0.995;0.995	T	0.59700	-0.7405	10	0.13853	T	0.58	-12.5475	15.5933	0.76558	1.0:0.0:0.0:0.0	.	643;636;636;643	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	V	636;596;549;636;643;643;577;472;643;549;636;636;643;596;472;472;440;440	ENSP00000316879:I636V;ENSP00000391935:I596V;ENSP00000376320:I549V;ENSP00000391412:I636V;ENSP00000413159:I643V;ENSP00000371767:I643V;ENSP00000403269:I577V;ENSP00000317600:I472V;ENSP00000338020:I643V;ENSP00000407682:I549V;ENSP00000343450:I636V;ENSP00000323737:I636V;ENSP00000416255:I643V;ENSP00000395974:I596V;ENSP00000398145:I472V;ENSP00000399858:I472V;ENSP00000411826:I440V;ENSP00000404754:I440V	ENSP00000323737:I636V	I	+	1	0	EIF4G1	185523413	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	8.761000	0.91691	2.270000	0.75569	0.460000	0.39030	ATC		0.507	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		6	285	0	0	0	1	0	6	285				
MTHFD1	4522	broad.mit.edu	37	14	64882196	64882196	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr14:64882196G>C	ENST00000545908.1	+	5	758	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	MTHFD1_ENST00000216605.8_Missense_Mutation_p.E121Q			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	121	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	TATTGCACCCGAGAAGGATGT	0.383																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	uc010aqf.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30						c.(529-531)Gag>Cag		Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						228.0	211.0	217.0					14																	64882196		2203	4300	6503	SO:0001583	missense	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	g.chr14:64882196G>C	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.529G>C	14.37:g.64882196G>C	ENSP00000438588:p.Glu177Gln					MTHFD1_uc010aqe.2_Missense_Mutation_p.E157Q|MTHFD1_uc001xhb.3_Missense_Mutation_p.E121Q	p.E177Q	NM_005956	NP_005947	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	4	748	+			121			Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37	c.529G>C		.	.	.	.	.	.	.	.	.	.	G	13.94	2.387894	0.42308	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.25085	2.6;2.63;2.61;1.82	4.96	4.96	0.65561	Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	M	0.79123	2.44	0.80722	D	1	B;B;B	0.30455	0.215;0.28;0.032	B;B;B	0.31946	0.085;0.138;0.036	T	0.35895	-0.9770	10	0.59425	D	0.04	-23.9048	18.5926	0.91218	0.0:0.0:1.0:0.0	.	177;121;121	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	Q	177;121;177;101	ENSP00000438588:E177Q;ENSP00000450560:E121Q;ENSP00000216605:E177Q;ENSP00000451309:E101Q	ENSP00000216605:E121Q	E	+	1	0	MTHFD1	63951949	1.000000	0.71417	0.925000	0.36789	0.181000	0.23173	9.348000	0.97062	2.462000	0.83206	0.455000	0.32223	GAG		0.383	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			3	280	0	0	0	1	0	3	280				
UMODL1	89766	broad.mit.edu	37	21	43547305	43547305	+	Silent	SNP	G	G	A			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr21:43547305G>A	ENST00000408910.2	+	19	3483	c.3483G>A	c.(3481-3483)ccG>ccA	p.P1161P	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Silent_p.P1217P|UMODL1_ENST00000400424.2_Silent_p.P1089P|UMODL1_ENST00000408989.2_Silent_p.P1289P	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1161	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGGCAACCCCGTCTAGCAACG	0.562																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zag.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(3865-3867)ccG>ccA		Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.							65.0	67.0	66.0					21																	43547305		1963	4145	6108	SO:0001819	synonymous_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43547305G>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3483G>A	21.37:g.43547305G>A						UMODL1_uc002zad.1_Silent_p.P1089P|UMODL1_uc002zae.1_Silent_p.P1217P|UMODL1_uc002zaf.1_Silent_p.P1161P|UMODL1_uc002zal.1_Silent_p.P111P|UMODL1_uc010gpa.1_5'Flank	p.P1289P	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN			17	3867	+			1161					C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	c.3867G>A	CCDS42936.1																																																																																				0.562	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			5	126	0	0	0	1	0	5	126				
SCN1A	6323	broad.mit.edu	37	2	166894497	166894497	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr2:166894497A>G	ENST00000303395.4	-	15	2734	c.2735T>C	c.(2734-2736)tTt>tCt	p.F912S	SCN1A_ENST00000375405.3_Missense_Mutation_p.F901S|SCN1A_ENST00000409050.1_Missense_Mutation_p.F884S|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.F912S|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	912					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTTTTACCAAAGAGCTGCAT	0.478																																						uc002udo.4																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(2734-2736)tTt>tCt		Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						155.0	141.0	146.0					2																	166894497		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166894497A>G	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2735T>C	2.37:g.166894497A>G	ENSP00000303540:p.Phe912Ser					SCN1A_uc010fpk.3_Missense_Mutation_p.F884S|SCN1A_uc021vsb.1_Missense_Mutation_p.F901S	p.F912S	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN			16	2962	-			912					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.2735T>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.618173	0.87359	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.99143	-5.48;-5.48;-5.48;-5.48	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99667	0.9876	H	0.99675	4.695	0.80722	D	1	B;D;D	0.89917	0.194;0.999;1.0	B;D;D	0.87578	0.132;0.997;0.998	D	0.97078	0.9782	10	0.87932	D	0	.	15.1254	0.72478	1.0:0.0:0.0:0.0	.	901;884;912	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	S	912;912;901;884	ENSP00000407030:F912S;ENSP00000303540:F912S;ENSP00000364554:F901S;ENSP00000386312:F884S	ENSP00000303540:F912S	F	-	2	0	SCN1A	166602743	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.226000	0.95229	2.042000	0.60477	0.482000	0.46254	TTT		0.478	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		35	117	0	0	0	1	0	35	117				
THYN1	29087	broad.mit.edu	37	11	134122752	134122752	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr11:134122752C>G	ENST00000341541.3	-	1	486	c.25G>C	c.(25-27)Gct>Cct	p.A9P	THYN1_ENST00000525677.1_5'UTR|THYN1_ENST00000352327.5_Missense_Mutation_p.A9P|ACAD8_ENST00000281182.4_5'Flank|ACAD8_ENST00000374752.4_5'Flank|ACAD8_ENST00000537423.1_5'Flank|ACAD8_ENST00000543332.1_5'Flank|THYN1_ENST00000392594.3_Missense_Mutation_p.A9P|THYN1_ENST00000392595.2_Missense_Mutation_p.A9P	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1	9						nucleus (GO:0005634)				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		GAAGTCCCAGCCAGCCTCTTC	0.512																																						uc001qhf.3																			0				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7						c.(25-27)Gct>Cct		Homo sapiens thymocyte nuclear protein 1 (THYN1), transcript variant 5, mRNA.							65.0	68.0	67.0					11																	134122752		2201	4297	6498	SO:0001583	missense	29087					nucleus		g.chr11:134122752C>G	BC006978	CCDS8496.1, CCDS8497.1	11q25	2006-02-09			ENSG00000151500	ENSG00000151500			29560	protein-coding gene	gene with protein product		613739				14601557, 12384300	Standard	NM_014174		Approved	THY28	uc001qhg.3	Q9P016	OTTHUMG00000167176	ENST00000341541.3:c.25G>C	11.37:g.134122752C>G	ENSP00000341657:p.Ala9Pro					THYN1_uc001qhg.3_Missense_Mutation_p.A9P|THYN1_uc001qhh.3_Missense_Mutation_p.A9P|THYN1_uc001qhi.3_Missense_Mutation_p.A9P|THYN1_uc001qhj.3_Missense_Mutation_p.A9P|THYN1_uc009zdb.3_Missense_Mutation_p.A9P|ACAD8_uc009zdc.3_5'Flank|ACAD8_uc010sco.1_5'Flank|ACAD8_uc010scp.1_5'Flank|ACAD8_uc010scq.2_5'Flank|ACAD8_uc001qhk.3_5'Flank|ACAD8_uc001qhl.3_5'Flank	p.A9P	NM_001037305	NP_954995	Q9P016	THYN1_HUMAN		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)	1	127	-	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	9					Q567Q2|Q9H3L4|Q9HC20	Missense_Mutation	SNP	ENST00000341541.3	37	c.25G>C	CCDS8496.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791521	0.31685	.	.	ENSG00000151500	ENST00000392595;ENST00000341541;ENST00000392594;ENST00000352327;ENST00000534274	.	.	.	4.87	-4.11	0.03928	.	1.452300	0.04306	N	0.348115	T	0.15652	0.0377	N	0.12182	0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.10200	-1.0640	9	0.23891	T	0.37	-27.3705	0.2404	0.00191	0.2522:0.2481:0.2477:0.2519	.	9;9;9	E9PPQ6;Q9P016-2;Q9P016	.;.;THYN1_HUMAN	P	9	.	ENSP00000341657:A9P	A	-	1	0	THYN1	133627962	0.000000	0.05858	0.001000	0.08648	0.671000	0.39405	-1.152000	0.03172	-0.572000	0.06006	-0.152000	0.13540	GCT		0.512	THYN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393599.1	NM_014174		3	148	0	0	0	1	0	3	148				
DNAH5	1767	broad.mit.edu	37	5	13751210	13751210	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr5:13751210T>C	ENST00000265104.4	-	65	11292	c.11188A>G	c.(11188-11190)Agg>Ggg	p.R3730G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3730	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAATGACCCTCCCCAGTAAC	0.443									Kartagener syndrome																													uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(11188-11190)Agg>Ggg		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							137.0	128.0	131.0					5																	13751210		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13751210T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11188A>G	5.37:g.13751210T>C	ENSP00000265104:p.Arg3730Gly					DNAH5_uc003jfc.2_5'UTR	p.R3730G	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			64	11230	-	Lung NSC(4;0.00476)		3730			AAA 5 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.11188A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.489428	0.84962	.	.	ENSG00000039139	ENST00000265104	T	0.21361	2.01	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	M	0.89785	3.06	0.80722	D	1	P	0.39352	0.669	P	0.48089	0.566	T	0.53315	-0.8456	10	0.59425	D	0.04	.	15.8087	0.78538	0.0:0.0:0.0:1.0	.	3730	Q8TE73	DYH5_HUMAN	G	3730	ENSP00000265104:R3730G	ENSP00000265104:R3730G	R	-	1	2	DNAH5	13804210	0.996000	0.38824	1.000000	0.80357	0.926000	0.56050	2.452000	0.44961	2.191000	0.70037	0.528000	0.53228	AGG		0.443	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		32	70	0	0	0	1	0	32	70				
CAMSAP2	23271	broad.mit.edu	37	1	200825160	200825160	+	Missense_Mutation	SNP	T	T	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr1:200825160T>G	ENST00000236925.4	+	16	4001	c.3952T>G	c.(3952-3954)Tta>Gta	p.L1318V	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.L1291V|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.L1307V			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1318					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										AGAAGGCTTCTTATCTCCAAG	0.388																																						uc001gvl.3																			0											c.(3952-3954)Tta>Gta		Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.							138.0	158.0	151.0					1																	200825160		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200825160T>G	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3952T>G	1.37:g.200825160T>G	ENSP00000236925:p.Leu1318Val					CAMSAP2_uc001gvk.3_Missense_Mutation_p.L1307V|CAMSAP2_uc001gvm.3_Missense_Mutation_p.L1291V	p.L1318V	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			15	4222	+			1318					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.3952T>G		.	.	.	.	.	.	.	.	.	.	T	13.27	2.186082	0.38609	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.14766	2.5;2.48;2.49	5.36	0.414	0.16406	.	0.066702	0.64402	D	0.000015	T	0.11793	0.0287	L	0.54323	1.7	0.52501	D	0.999954	B;B;B	0.22541	0.014;0.042;0.071	B;B;B	0.28139	0.037;0.04;0.086	T	0.12344	-1.0551	10	0.29301	T	0.29	-14.1698	5.4833	0.16735	0.1257:0.3504:0.0:0.5239	.	1291;1318;1307	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	V	1307;1291;1318	ENSP00000351684:L1307V;ENSP00000416800:L1291V;ENSP00000236925:L1318V	ENSP00000236925:L1318V	L	+	1	2	CAMSAP1L1	199091783	0.915000	0.31059	0.833000	0.33012	0.964000	0.63967	0.099000	0.15210	-0.109000	0.12044	0.533000	0.62120	TTA		0.388	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		6	288	0	0	0	1	0	6	288				
VN1R1	57191	broad.mit.edu	37	19	57967712	57967712	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr19:57967712G>A	ENST00000321039.3	-	1	142	c.143C>T	c.(142-144)tCa>tTa	p.S48L	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	48					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GCTAATCCCTGATTTTACTTT	0.358																																						uc002qos.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(142-144)tCa>tTa		Homo sapiens vomeronasal 1 receptor 1 (VN1R1), mRNA.							55.0	56.0	56.0					19																	57967712		2203	4300	6503	SO:0001583	missense	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57967712G>A	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.143C>T	19.37:g.57967712G>A	ENSP00000322339:p.Ser48Leu						p.S48L	NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	0	396	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	48					B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	c.143C>T	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	G	3.279	-0.147503	0.06627	.	.	ENSG00000178201	ENST00000321039	T	0.28069	1.63	4.18	-0.788	0.10939	.	.	.	.	.	T	0.07413	0.0187	N	0.00637	-1.305	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28681	-1.0036	9	0.30078	T	0.28	.	2.1666	0.03839	0.4412:0.3232:0.0929:0.1426	.	48	Q9GZP7	VN1R1_HUMAN	L	48	ENSP00000322339:S48L	ENSP00000322339:S48L	S	-	2	0	VN1R1	62659524	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.057000	0.11768	-0.324000	0.08589	-1.353000	0.01230	TCA		0.358	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		17	91	0	0	0	1	0	17	91				
SORL1	6653	broad.mit.edu	37	11	121424735	121424735	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr11:121424735G>A	ENST00000260197.7	+	17	2485	c.2356G>A	c.(2356-2358)Ggg>Agg	p.G786R		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	786					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCCTCTCACCGGGCTACGGGC	0.562																																						uc001pxx.3																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(2356-2358)Ggg>Agg		Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.							152.0	143.0	146.0					11																	121424735		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121424735G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2356G>A	11.37:g.121424735G>A	ENSP00000260197:p.Gly786Arg						p.G786R	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	16	2485	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	786					B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.2356G>A	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165764	0.78339	.	.	ENSG00000137642	ENST00000260197	D	0.92149	-2.98	4.96	4.96	0.65561	Six-bladed beta-propeller, TolB-like (1);	0.282723	0.38381	N	0.001711	D	0.95478	0.8531	M	0.90145	3.09	0.80722	D	1	D	0.65815	0.995	P	0.51895	0.683	D	0.96353	0.9260	10	0.72032	D	0.01	.	18.396	0.90499	0.0:0.0:1.0:0.0	.	786	Q92673	SORL_HUMAN	R	786	ENSP00000260197:G786R	ENSP00000260197:G786R	G	+	1	0	SORL1	120929945	1.000000	0.71417	0.559000	0.28332	0.375000	0.29983	9.299000	0.96137	2.564000	0.86499	0.561000	0.74099	GGG		0.562	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		4	234	0	0	0	1	0	4	234				
CNGB3	54714	broad.mit.edu	37	8	87683262	87683262	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr8:87683262G>C	ENST00000320005.5	-	4	450	c.403C>G	c.(403-405)Ctg>Gtg	p.L135V		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	135					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTTTTCACCAGGTTGTGTAGC	0.473																																						uc003ydx.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.(403-405)Ctg>Gtg		Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.							243.0	250.0	248.0					8																	87683262		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87683262G>C	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.403C>G	8.37:g.87683262G>C	ENSP00000316605:p.Leu135Val					CNGB3_uc010maj.3_5'UTR	p.L135V	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			3	451	-			135					C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.403C>G	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.202908	0.58234	.	.	ENSG00000170289	ENST00000320005	T	0.61510	0.1	5.68	0.286	0.15710	.	0.182929	0.35179	N	0.003395	T	0.59155	0.2173	M	0.67397	2.05	0.20489	N	0.999892	D	0.67145	0.996	P	0.56563	0.801	T	0.52442	-0.8575	10	0.62326	D	0.03	.	1.9517	0.03368	0.2006:0.0989:0.4153:0.2851	.	135	Q9NQW8	CNGB3_HUMAN	V	135	ENSP00000316605:L135V	ENSP00000316605:L135V	L	-	1	2	CNGB3	87752378	0.022000	0.18835	0.080000	0.20451	0.980000	0.70556	-0.041000	0.12084	0.001000	0.14605	0.591000	0.81541	CTG		0.473	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		12	499	0	0	0	1	0	12	499				
FGD3	89846	broad.mit.edu	37	9	95797678	95797678	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr9:95797678C>T	ENST00000375482.3	+	18	2481	c.1985C>T	c.(1984-1986)cCt>cTt	p.P662L	FGD3_ENST00000416701.2_Missense_Mutation_p.P661L|FGD3_ENST00000538555.1_Missense_Mutation_p.P265L|FGD3_ENST00000337352.6_Missense_Mutation_p.P662L	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	662	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GTGCCGGACCCTGAGGAGAGG	0.672																																						uc004asw.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(1984-1986)cCt>cTt		Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 1, mRNA.							27.0	35.0	33.0					9																	95797678		2135	4242	6377	SO:0001583	missense	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	g.chr9:95797678C>T	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1985C>T	9.37:g.95797678C>T	ENSP00000364631:p.Pro662Leu					FGD3_uc004asx.2_Missense_Mutation_p.P661L|FGD3_uc004asz.2_Missense_Mutation_p.P662L|FGD3_uc011luc.1_Missense_Mutation_p.P265L	p.P662L	NM_001083536	NP_149077	Q5JSP0	FGD3_HUMAN			17	2613	+			662			PH 2.		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	ENST00000375482.3	37	c.1985C>T	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	c	10.54	1.379758	0.24944	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;T	0.73152	-0.66;-0.66;-0.66;-0.72	4.51	2.42	0.29668	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.37623	N	0.002002	T	0.73009	0.3532	M	0.70275	2.135	0.09310	N	0.999999	D;B	0.53745	0.962;0.053	P;B	0.54965	0.765;0.046	T	0.61232	-0.7104	10	0.27785	T	0.31	.	5.6654	0.17693	0.0:0.6812:0.1932:0.1256	.	661;662	F8W7P2;Q5JSP0	.;FGD3_HUMAN	L	662;661;662;265	ENSP00000364631:P662L;ENSP00000413833:P661L;ENSP00000336914:P662L;ENSP00000442560:P265L	ENSP00000336914:P662L	P	+	2	0	FGD3	94837499	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	0.419000	0.21247	0.464000	0.27142	0.556000	0.70494	CCT		0.672	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		6	13	0	0	0	1	0	6	13				
C10orf76	79591	broad.mit.edu	37	10	103735059	103735059	+	Splice_Site	SNP	T	T	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr10:103735059T>C	ENST00000370033.4	-	20	1526		c.e20-2			NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76							integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		ATGCAGCGTCTGTAACAGGGA	0.493																																						uc009xwy.1																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24						c.e20-1		Homo sapiens chromosome 10 open reading frame 76 (C10orf76), mRNA.							76.0	78.0	78.0					10																	103735059		1915	4121	6036	SO:0001630	splice_region_variant	79591					integral to membrane		g.chr10:103735059T>C	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.1407-2A>G	10.37:g.103735059T>C						C10orf76_uc009xwx.1_Splice_Site	p.I469_splice	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	20	1509	-		Colorectal(252;0.123)	469					Q2TB87|Q9H8Z9	Splice_Site	SNP	ENST00000370033.4	37	c.1407_splice	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.604159	0.87157	.	.	ENSG00000120029	ENST00000370033;ENST00000431271	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1214	0.65189	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	C10orf76	103725049	1.000000	0.71417	0.981000	0.43875	0.972000	0.66771	7.276000	0.78559	1.994000	0.58287	0.402000	0.26972	.		0.493	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541	Intron	19	49	0	0	0	1	0	19	49				
PPAPDC1A	196051	broad.mit.edu	37	10	122273473	122273473	+	Silent	SNP	C	C	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr10:122273473C>T	ENST00000398250.1	+	3	568	c.216C>T	c.(214-216)atC>atT	p.I72I	PPAPDC1A_ENST00000369073.3_Silent_p.I62I|PPAPDC1A_ENST00000541332.1_Silent_p.I72I|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000439221.1_Silent_p.I72I	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	72					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TGAAAATTATCCGGCGAACAG	0.413																																						uc001lev.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20						c.(214-216)atC>atT		Homo sapiens phosphatidic acid phosphatase type 2 domain containing 1A (PPAPDC1A), mRNA.							188.0	169.0	175.0					10																	122273473		1834	4088	5922	SO:0001819	synonymous_variant	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122273473C>T	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.216C>T	10.37:g.122273473C>T						PPAPDC1A_uc010qtd.2_Silent_p.I72I|PPAPDC1A_uc009xzl.1_Silent_p.I72I|PPAPDC1A_uc001lew.1_Intron|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_5'UTR	p.I72I	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	2	568	+		Lung NSC(174;0.1)|all_lung(145;0.132)	72					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Silent	SNP	ENST00000398250.1	37	c.216C>T	CCDS41573.1																																																																																				0.413	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		4	184	0	0	0	1	0	4	184				
OR5B2	390190	broad.mit.edu	37	11	58190019	58190019	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr11:58190019C>T	ENST00000302581.2	-	1	767	c.716G>A	c.(715-717)tGt>tAt	p.C239Y		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTGAGAGGCACAGGTGGACAA	0.438																																						uc010rkg.2																			0				NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(715-717)tGt>tAt		Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.							123.0	114.0	117.0					11																	58190019		2201	4295	6496	SO:0001583	missense	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58190019C>T	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.716G>A	11.37:g.58190019C>T	ENSP00000303076:p.Cys239Tyr						p.C239Y	NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN			0	768	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	239					B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	c.716G>A	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858260	0.51376	.	.	ENSG00000172365	ENST00000302581	T	0.00369	7.74	3.73	3.73	0.42828	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38663	U	0.001601	T	0.01940	0.0061	H	0.98295	4.195	0.52099	D	0.999945	D	0.89917	1.0	D	0.75484	0.986	T	0.10428	-1.0630	10	0.87932	D	0	-10.7883	14.5682	0.68194	0.0:1.0:0.0:0.0	.	239	Q96R09	OR5B2_HUMAN	Y	239	ENSP00000303076:C239Y	ENSP00000303076:C239Y	C	-	2	0	OR5B2	57946595	1.000000	0.71417	0.993000	0.49108	0.303000	0.27691	5.754000	0.68743	2.098000	0.63641	0.585000	0.79938	TGT		0.438	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		27	57	0	0	0	1	0	27	57				
MUC16	94025	broad.mit.edu	37	19	9064376	9064376	+	Silent	SNP	C	C	T	rs150330701	byFrequency	TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr19:9064376C>T	ENST00000397910.4	-	3	23273	c.23070G>A	c.(23068-23070)ccG>ccA	p.P7690P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7692	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAAAGACAGCGGGGAGGATG	0.562													N|||	11	0.00219649	0.0076	0.0014	5008	,	,		17804	0.0		0.0	False		,,,				2504	0.0					uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(23068-23070)ccG>ccA		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.		C		16,4030		0,16,2007	79.0	89.0	86.0		23070	-4.4	0.0	19	dbSNP_134	86	0,8342		0,0,4171	no	coding-synonymous	MUC16	NM_024690.2		0,16,6178	TT,TC,CC		0.0,0.3955,0.1292		7690/14508	9064376	16,12372	2023	4171	6194	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064376C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23070G>A	19.37:g.9064376C>T							p.P7690P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	23274	-			7692			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.23070G>A	CCDS54212.1																																																																																				0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	55	0	0	0	1	0	7	55				
CCDC38	120935	broad.mit.edu	37	12	96310945	96310945	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr12:96310945A>C	ENST00000344280.3	-	4	823	c.266T>G	c.(265-267)tTt>tGt	p.F89C	CCDC38_ENST00000549752.1_5'Flank	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	89										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACCTGGCCCAAACTTTTCAAA	0.373																																						uc001tek.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(265-267)tTt>tGt		Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA.							87.0	84.0	85.0					12																	96310945		2203	4300	6503	SO:0001583	missense	120935							g.chr12:96310945A>C	AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.266T>G	12.37:g.96310945A>C	ENSP00000345470:p.Phe89Cys						p.F89C	NM_182496	NP_872302	Q502W7	CCD38_HUMAN			3	500	-			89					Q8N835	Missense_Mutation	SNP	ENST00000344280.3	37	c.266T>G	CCDS9056.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.270605	0.40194	.	.	ENSG00000165972	ENST00000344280;ENST00000546947	T	0.32988	1.43	5.54	1.79	0.24919	.	0.840158	0.10504	N	0.666927	T	0.22820	0.0551	L	0.27053	0.805	0.09310	N	1	D	0.59357	0.985	P	0.46796	0.527	T	0.09840	-1.0656	10	0.38643	T	0.18	0.0074	4.3683	0.11235	0.6132:0.0:0.0824:0.3045	.	89	Q502W7	CCD38_HUMAN	C	89;49	ENSP00000345470:F89C	ENSP00000345470:F89C	F	-	2	0	CCDC38	94835076	0.005000	0.15991	0.001000	0.08648	0.001000	0.01503	1.153000	0.31676	0.141000	0.18875	-0.344000	0.07964	TTT		0.373	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408634.1	NM_182496		6	94	0	0	0	1	0	6	94				
SPATA31D5P	347127	broad.mit.edu	37	9	84530744	84530744	+	RNA	SNP	T	T	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr9:84530744T>C	ENST00000527857.1	+	0	766					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		CCCTCTCCCCTTTTCCCACCG	0.542																																						uc011lst.2																			0											c.(664-666)cTt>cCt		Homo sapiens family with sequence similarity 75, member D5, pseudogene (FAM75D5), non-coding RNA.																																						347127							g.chr9:84530744T>C			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84530744T>C							p.L222P							3	766	+									Missense_Mutation	SNP	ENST00000527857.1	37	c.665T>C																																																																																					0.542	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		3	200	0	0	0	1	0	3	200				
MYRF	745	broad.mit.edu	37	11	61551039	61551039	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr11:61551039C>T	ENST00000278836.5	+	23	3182	c.3086C>T	c.(3085-3087)aCc>aTc	p.T1029I	MYRF_ENST00000389602.4_Missense_Mutation_p.T415I|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.T989I	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	1029					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ATGTCCATCACCTCCCAGTAC	0.617																																						uc001nsc.1																			0				NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						c.(3085-3087)aCc>aTc		Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.							157.0	140.0	146.0					11																	61551039		2202	4299	6501	SO:0001583	missense	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61551039C>T		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.3086C>T	11.37:g.61551039C>T	ENSP00000278836:p.Thr1029Ile					C11orf9_uc001nse.1_Missense_Mutation_p.T989I|C11orf9_uc010rll.1_Missense_Mutation_p.T415I|C11orf9_uc021qkh.1_5'Flank	p.T1029I	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN			22	3182	+			1029					O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.3086C>T	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942936	0.73672	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000389602	T;T;T	0.49139	0.79;0.79;0.79	4.36	4.36	0.52297	.	0.327071	0.31897	N	0.006896	T	0.57770	0.2076	L	0.47716	1.5	0.80722	D	1	D;P;D	0.69078	0.997;0.744;0.973	D;B;P	0.65010	0.931;0.341;0.756	T	0.56998	-0.7886	10	0.45353	T	0.12	-26.4873	12.9201	0.58226	0.2026:0.7974:0.0:0.0	.	415;989;1029	B4DHB2;Q9Y2G1-2;Q9Y2G1	.;.;MRF_HUMAN	I	1029;989;415	ENSP00000278836:T1029I;ENSP00000265460:T989I;ENSP00000374253:T415I	ENSP00000265460:T989I	T	+	2	0	C11orf9	61307615	0.947000	0.32204	0.991000	0.47740	0.996000	0.88848	2.018000	0.40991	2.350000	0.79820	0.655000	0.94253	ACC		0.617	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		5	308	0	0	0	1	0	5	308				
HSPH1	10808	broad.mit.edu	37	13	31728716	31728716	+	Intron	SNP	T	T	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr13:31728716T>C	ENST00000320027.5	-	4	774				HSPH1_ENST00000380406.5_Intron|HSPH1_ENST00000380405.4_Intron|HSPH1_ENST00000445273.2_Intron|HSPH1_ENST00000429785.2_Intron	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1						chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTAAAAGTAATACAAAGAACG	0.353																																						uc010aay.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(487-489)gtA>gtG		Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA.																																				SO:0001627	intron_variant	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31728716T>C	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.429+53A>G	13.37:g.31728716T>C						HSPH1_uc001utj.3_Intron|HSPH1_uc001utk.3_Intron|HSPH1_uc010aaw.3_Intron|HSPH1_uc001utl.3_Intron|HSPH1_uc010tds.2_Intron|HSPH1_uc010tdt.1_Intron|HSPH1_uc010aax.1_Intron	p.V163V			Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	3	760	-		Lung SC(185;0.0257)	0					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Silent	SNP	ENST00000320027.5	37	c.489A>G	CCDS9340.1																																																																																				0.353	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			14	46	0	0	0	1	0	14	46				
OR2AT4	341152	broad.mit.edu	37	11	74800585	74800585	+	Silent	SNP	G	G	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr11:74800585G>T	ENST00000305159.3	-	1	214	c.174C>A	c.(172-174)ccC>ccA	p.P58P		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						TGTGGAGGCTGGGCTCTGCCA	0.502																																						uc010rro.2																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						c.(172-174)ccC>ccA		Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.							146.0	124.0	132.0					11																	74800585		2200	4293	6493	SO:0001819	synonymous_variant	341152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:74800585G>T	BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"""GPCR / Class A : Olfactory receptors"""	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.174C>A	11.37:g.74800585G>T							p.P58P	NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN			0	174	-			58					B9EGZ8	Silent	SNP	ENST00000305159.3	37	c.174C>A	CCDS31639.1																																																																																				0.502	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		5	87	0	0	0	1	0	5	87				
MRPS5	64969	broad.mit.edu	37	2	95773945	95773945	+	Silent	SNP	G	G	A			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr2:95773945G>A	ENST00000272418.2	-	5	820	c.612C>T	c.(610-612)ggC>ggT	p.G204G		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	204					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GGTCAGGGGGGCCAAGACTGA	0.488																																						uc002sub.3																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(610-612)ggC>ggT		Homo sapiens mitochondrial ribosomal protein S5 (MRPS5), nuclear gene encoding mitochondrial protein, mRNA.							147.0	123.0	131.0					2																	95773945		2203	4300	6503	SO:0001819	synonymous_variant	64969				translation	mitochondrion|ribosome	RNA binding|protein binding|structural constituent of ribosome	g.chr2:95773945G>A	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.612C>T	2.37:g.95773945G>A						MRPS5_uc002suc.3_Non-coding_Transcript|MRPS5_uc010yud.1_Silent_p.G204G	p.G204G	NM_031902	NP_114108	P82675	RT05_HUMAN			4	830	-			204					Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Silent	SNP	ENST00000272418.2	37	c.612C>T	CCDS2010.1																																																																																				0.488	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		4	130	0	0	0	1	0	4	130				
NEK10	152110	broad.mit.edu	37	3	27332763	27332763	+	Missense_Mutation	SNP	C	C	G	rs547879901		TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr3:27332763C>G	ENST00000429845.2	-	19	1957	c.1595G>C	c.(1594-1596)tGt>tCt	p.C532S	NEK10_ENST00000357467.2_5'UTR|NEK10_ENST00000341435.5_Missense_Mutation_p.C532S			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	532	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTTGTAAACACAGCCAAAAGC	0.383																																						uc003cdt.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1594-1596)tGt>tCt		Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.							128.0	118.0	121.0					3																	27332763		1568	3582	5150	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27332763C>G	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1595G>C	3.37:g.27332763C>G	ENSP00000395849:p.Cys532Ser					NEK10_uc003cds.1_5'UTR	p.C532S	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN			18	1869	-			532			Protein kinase.		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.1595G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.14|11.14	1.551507|1.551507	0.27739|0.27739	.|.	.|.	ENSG00000163491|ENSG00000163491	ENST00000341435;ENST00000396636|ENST00000424275	T|.	0.63096|.	-0.02|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.101452|.	0.64402|.	N|.	0.000009|.	T|T	0.32852|0.32852	0.0843|0.0843	N|N	0.01576|0.01576	-0.805|-0.805	0.80722|0.80722	D|D	1|1	B|.	0.11235|.	0.004|.	B|.	0.16289|.	0.015|.	T|T	0.35375|0.35375	-0.9791|-0.9791	10|5	0.02654|.	T|.	1|.	.|.	19.7321|19.7321	0.96186|0.96186	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	532|.	Q6ZWH5|.	NEK10_HUMAN|.	S|L	532|65	ENSP00000343847:C532S|.	ENSP00000343847:C532S|.	C|V	-|-	2|1	0|0	NEK10|NEK10	27307767|27307767	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.264000|4.264000	0.58859|0.58859	2.652000|2.652000	0.90054|0.90054	0.650000|0.650000	0.86243|0.86243	TGT|GTG		0.383	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		8	45	0	0	0	1	0	8	45				
VN1R1	57191	broad.mit.edu	37	19	57967438	57967438	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr19:57967438G>C	ENST00000321039.3	-	1	416	c.417C>G	c.(415-417)atC>atG	p.I139M	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	139			I -> T (in allele VN1R1*2). {ECO:0000269|PubMed:12826614}.		response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		TGAGAAGGCAGATGGTGCTGA	0.428																																						uc002qos.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(415-417)atC>atG		Homo sapiens vomeronasal 1 receptor 1 (VN1R1), mRNA.							99.0	91.0	94.0					19																	57967438		2203	4300	6503	SO:0001583	missense	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57967438G>C	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.417C>G	19.37:g.57967438G>C	ENSP00000322339:p.Ile139Met						p.I139M	NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	0	670	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	139		I -> T (in allele VN1R1*2).			B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	c.417C>G	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485130	0.44147	.	.	ENSG00000178201	ENST00000321039	T	0.38401	1.14	4.18	2.03	0.26663	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.36524	0.0970	L	0.42245	1.32	0.21290	N	0.999732	P	0.39326	0.668	P	0.45639	0.488	T	0.23404	-1.0189	9	0.87932	D	0	.	8.2359	0.31625	0.1982:0.0:0.8018:0.0	.	139	Q9GZP7	VN1R1_HUMAN	M	139	ENSP00000322339:I139M	ENSP00000322339:I139M	I	-	3	3	VN1R1	62659250	0.996000	0.38824	0.029000	0.17559	0.009000	0.06853	2.720000	0.47252	0.545000	0.28902	0.638000	0.83543	ATC		0.428	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		24	131	0	0	0	1	0	24	131				
