#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
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Silent_p.L384L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		5	144	0	0	0	0.001168	0	5	144				
CCDC181	57821	broad.mit.edu	37	1	169390813	169390813	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:169390813C>T	ENST00000367806.3	-	3	1008	c.856G>A	c.(856-858)Gag>Aag	p.E286K	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000545005.1_Missense_Mutation_p.E286K|CCDC181_ENST00000367805.3_Missense_Mutation_p.E286K	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	286						nucleus (GO:0005634)											GCCAGCGGCTCTCCTGTTGAT	0.473																																						ENST00000545005.1																			0											c.(856-858)Gag>Aag		coiled-coil domain containing 181							152.0	143.0	146.0					1																	169390813		2203	4300	6503	SO:0001583	missense	57821							g.chr1:169390813C>T	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.856G>A	1.37:g.169390813C>T	ENSP00000356780:p.Glu286Lys					CCDC181_ENST00000367805.3_Missense_Mutation_p.E286K|CCDC181_ENST00000367806.3_Missense_Mutation_p.E286K|CCDC181_ENST00000491570.1_5'UTR	p.E286K							4	1363	-								O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37	c.856G>A		.	.	.	.	.	.	.	.	.	.	C	13.39	2.222299	0.39300	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.24538	1.86;1.86;1.86;1.85	5.02	4.11	0.48088	.	0.264165	0.37437	N	0.002096	T	0.38081	0.1027	M	0.72118	2.19	0.31629	N	0.649308	P;D;D	0.89917	0.93;1.0;1.0	P;D;D	0.85130	0.71;0.997;0.997	T	0.42015	-0.9476	9	0.54805	T	0.06	-9.0945	13.3503	0.60597	0.0:0.9223:0.0:0.0777	.	286;286;286	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	K	286	ENSP00000356779:E286K;ENSP00000356780:E286K;ENSP00000442297:E286K;ENSP00000411000:E286K	ENSP00000356779:E286K	E	-	1	0	C1orf114	167657437	0.605000	0.26941	0.852000	0.33557	0.249000	0.25844	2.373000	0.44266	1.124000	0.41980	-0.384000	0.06662	GAG		0.473	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		53	142	0	0	0	0.003610	0	53	142				
ZIM3	114026	broad.mit.edu	37	19	57646307	57646307	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:57646307C>T	ENST00000269834.1	-	5	1783	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAATTCTTTTCTGGTGCCTAA	0.428																																						ENST00000269834.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52						c.(1396-1398)caG>caA		zinc finger, imprinted 3							113.0	112.0	113.0					19																	57646307		2203	4300	6503	SO:0001819	synonymous_variant	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646307C>T	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1398G>A	19.37:g.57646307C>T							p.Q466Q	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1783	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	466					Q14CA6	Silent	SNP	ENST00000269834.1	37	c.1398G>A	CCDS33125.1																																																																																				0.428	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			49	70	0	0	0	0.003610	0	49	70				
FREM2	341640	broad.mit.edu	37	13	39446956	39446956	+	Silent	SNP	G	G	T	rs147947821		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr13:39446956G>T	ENST00000280481.7	+	17	8277	c.8061G>T	c.(8059-8061)ggG>ggT	p.G2687G		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2687					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCCCCGTGGGGGTAGGAGGCT	0.488																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(8059-8061)ggG>ggT		FRAS1 related extracellular matrix protein 2							129.0	125.0	127.0					13																	39446956		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39446956G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8061G>T	13.37:g.39446956G>T							p.G2687G	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	17	8277	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2687					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.8061G>T	CCDS31960.1																																																																																				0.488	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		40	64	1	0	9.8876e-21	0.004878	1.50463e-20	40	64				
PCLO	27445	broad.mit.edu	37	7	82582174	82582174	+	Missense_Mutation	SNP	G	G	T	rs551639501		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:82582174G>T	ENST00000333891.9	-	5	8432	c.8095C>A	c.(8095-8097)Cct>Act	p.P2699T	PCLO_ENST00000423517.2_Missense_Mutation_p.P2699T|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTCTGGAGGAATTGTTATG	0.403																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(8095-8097)Cct>Act		piccolo presynaptic cytomatrix protein							65.0	63.0	64.0					7																	82582174		1874	4100	5974	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82582174G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8095C>A	7.37:g.82582174G>T	ENSP00000334319:p.Pro2699Thr					PCLO_ENST00000333891.8_Missense_Mutation_p.P2699T	p.P2699T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	8432	-			2630						Missense_Mutation	SNP	ENST00000333891.9	37	c.8095C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.626088	0.28978	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17854	2.29;2.25	5.36	5.36	0.76844	.	.	.	.	.	T	0.38188	0.1031	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.975	T	0.09292	-1.0681	9	0.87932	D	0	.	18.6866	0.91567	0.0:0.0:1.0:0.0	.	2699;2699	Q9Y6V0-5;Q9Y6V0-6	.;.	T	2630;2699;2699	ENSP00000334319:P2699T;ENSP00000388393:P2699T	ENSP00000334319:P2699T	P	-	1	0	PCLO	82420110	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.744000	0.74854	2.515000	0.84797	0.591000	0.81541	CCT		0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		18	47	1	0	3.32936e-07	0.006122	4.19164e-07	18	47				
MAST4	375449	broad.mit.edu	37	5	66429471	66429471	+	Silent	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:66429471A>G	ENST00000403625.2	+	17	2518	c.2223A>G	c.(2221-2223)aaA>aaG	p.K741K	MAST4_ENST00000405643.1_Silent_p.K562K|MAST4_ENST00000403666.1_Silent_p.K552K|MAST4_ENST00000404260.3_Silent_p.K744K|MAST4_ENST00000261569.7_Silent_p.K547K	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	744	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCCTGGATAAACAGGTAAGCT	0.408																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(2230-2232)aaA>aaG		microtubule associated serine/threonine kinase family member 4							130.0	125.0	126.0					5																	66429471		1904	4103	6007	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66429471A>G	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.2223A>G	5.37:g.66429471A>G						MAST4_ENST00000405643.1_Silent_p.K562K|MAST4_ENST00000261569.7_Silent_p.K547K|MAST4_ENST00000403666.1_Silent_p.K552K|MAST4_ENST00000403625.2_Silent_p.K741K	p.K744K			O15021	MAST4_HUMAN		Lung(70;0.011)	17	2540	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	744			Protein kinase.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.2232A>G	CCDS54861.1																																																																																				0.408	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			21	37	0	0	0	0.001523	0	21	37				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	6	66	0	0	0	0.001984	0	6	66				
MBTPS2	51360	broad.mit.edu	37	X	21869684	21869684	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:21869684A>T	ENST00000379484.5	+	4	595	c.496A>T	c.(496-498)Att>Ttt	p.I166F	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Missense_Mutation_p.I166F	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	166					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GGCAGTTCTCATTAGTGGTGT	0.373																																						ENST00000365779.2																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						c.(496-498)Att>Ttt		membrane-bound transcription factor peptidase, site 2							224.0	202.0	209.0					X																	21869684		2203	4300	6503	SO:0001583	missense	51360				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	g.chrX:21869684A>T	AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.496A>T	X.37:g.21869684A>T	ENSP00000368798:p.Ile166Phe					MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Missense_Mutation_p.I166F	p.I166F			O43462	MBTP2_HUMAN			4	577	+			166					Q9UM70|Q9UMD3	Missense_Mutation	SNP	ENST00000379484.5	37	c.496A>T	CCDS14201.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548062	0.65311	.	.	ENSG00000012174	ENST00000379484;ENST00000365779	D;D	0.93811	-3.29;-3.29	5.17	4.01	0.46588	Peptidase M50 (1);	0.219065	0.47455	D	0.000223	D	0.94262	0.8157	L	0.58583	1.82	0.52099	D	0.999943	D;D;P	0.61080	0.967;0.989;0.86	P;P;P	0.60012	0.867;0.814;0.516	D	0.92823	0.6274	10	0.48119	T	0.1	-16.2951	10.2271	0.43231	0.9214:0.0:0.0786:0.0	.	166;166;166	A8KA68;O43462;B9ZVQ3	.;MBTP2_HUMAN;.	F	166	ENSP00000368798:I166F;ENSP00000368796:I166F	ENSP00000368796:I166F	I	+	1	0	MBTPS2	21779605	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.425000	0.52771	0.781000	0.33589	-0.466000	0.05196	ATT		0.373	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			5	78	0	0	0	0.001168	0	5	78				
PCDH15	65217	broad.mit.edu	37	10	56106133	56106133	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:56106133C>A	ENST00000320301.6	-	6	980	c.586G>T	c.(586-588)Gat>Tat	p.D196Y	PCDH15_ENST00000373955.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000373957.3_Missense_Mutation_p.D174Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000373965.2_Missense_Mutation_p.D196Y|PCDH15_ENST00000414778.1_Missense_Mutation_p.D201Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.D196Y|PCDH15_ENST00000395446.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395442.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395432.2_Missense_Mutation_p.D196Y|PCDH15_ENST00000409834.1_Intron|AC013737.1_ENST00000583830.1_RNA|PCDH15_ENST00000395433.1_Missense_Mutation_p.D174Y|PCDH15_ENST00000395440.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395438.1_Missense_Mutation_p.D196Y	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	196	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.D196Y(2)|p.D201Y(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCGGATCATCTGGATTATAC	0.308										HNSCC(58;0.16)																												ENST00000373965.2																			4	Substitution - Missense(4)	p.D196Y(2)|p.D201Y(2)	lung(4)	NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(586-588)Gat>Tat		protocadherin-related 15							119.0	114.0	116.0					10																	56106133		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56106133C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.586G>T	10.37:g.56106133C>A	ENSP00000322604:p.Asp196Tyr	HNSCC(58;0.16)				PCDH15_ENST00000373957.3_Missense_Mutation_p.D174Y|PCDH15_ENST00000395433.1_Missense_Mutation_p.D174Y|PCDH15_ENST00000395432.2_Missense_Mutation_p.D196Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395442.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395440.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.D196Y|PCDH15_ENST00000320301.6_Missense_Mutation_p.D196Y|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.D201Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000373955.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395438.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395446.1_Missense_Mutation_p.D196Y	p.D196Y	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			6	980	-		Melanoma(3;0.117)|Lung SC(717;0.238)	196			Cadherin 2.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.586G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760515	0.69763	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;2.39;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.35	5.35	0.76521	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58963	0.2159	L	0.54323	1.7	0.24435	N	0.994558	D;P;D;D;P;P;D;P;D;D;P;P;P;P;D	0.58970	0.971;0.951;0.971;0.971;0.941;0.901;0.971;0.552;0.984;0.984;0.88;0.552;0.488;0.949;0.971	P;P;P;P;P;B;P;B;P;P;P;B;B;P;P	0.62649	0.905;0.722;0.863;0.808;0.722;0.396;0.905;0.363;0.793;0.793;0.485;0.363;0.353;0.722;0.863	T	0.53892	-0.8374	9	0.72032	D	0.01	.	8.2797	0.31894	0.0:0.8314:0.0:0.1686	.	174;196;196;201;196;196;196;196;196;196;196;201;196;174;196	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	Y	196;201;196;196;196;196;196;196;196;196;174;174;196;196;201;196;196	ENSP00000363076:D196Y;ENSP00000410304:D201Y;ENSP00000378826:D196Y;ENSP00000378832:D196Y;ENSP00000378833:D196Y;ENSP00000378829:D196Y;ENSP00000378827:D196Y;ENSP00000378820:D196Y;ENSP00000354950:D196Y;ENSP00000378821:D174Y;ENSP00000363068:D174Y;ENSP00000322604:D196Y;ENSP00000378818:D196Y;ENSP00000412628:D196Y;ENSP00000363066:D196Y	ENSP00000322604:D196Y	D	-	1	0	PCDH15	55776139	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	1.772000	0.38552	2.514000	0.84764	0.650000	0.86243	GAT		0.308	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		26	59	1	0	1.66031e-10	0.003954	2.20116e-10	26	59				
ZNF521	25925	broad.mit.edu	37	18	22804737	22804737	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr18:22804737C>A	ENST00000361524.3	-	4	3293	c.3145G>T	c.(3145-3147)Ggg>Tgg	p.G1049W	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.G1049W|ZNF521_ENST00000584787.1_Missense_Mutation_p.G829W	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1049					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ACTGCAGACCCATTCCCTGTC	0.522			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(3145-3147)Ggg>Tgg		zinc finger protein 521							77.0	60.0	66.0					18																	22804737		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804737C>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3145G>T	18.37:g.22804737C>A	ENSP00000354794:p.Gly1049Trp					ZNF521_ENST00000584787.1_Missense_Mutation_p.G829W|ZNF521_ENST00000538137.2_Missense_Mutation_p.G1049W	p.G1049W	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	3293	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1049					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.3145G>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	7.547	0.661839	0.14645	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09163	3.01;3.02	5.98	5.98	0.97165	.	0.321098	0.34628	N	0.003806	T	0.12561	0.0305	N	0.24115	0.695	0.32258	N	0.570531	P	0.42456	0.78	P	0.47206	0.541	T	0.02244	-1.1189	10	0.87932	D	0	-17.9379	12.8817	0.58020	0.0:0.926:0.0:0.074	.	1049	Q96K83	ZN521_HUMAN	W	1049;1083;1049	ENSP00000354794:G1049W;ENSP00000382352:G1049W	ENSP00000354794:G1049W	G	-	1	0	ZNF521	21058735	0.995000	0.38212	0.898000	0.35279	0.993000	0.82548	2.597000	0.46214	2.835000	0.97688	0.650000	0.86243	GGG		0.522	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		19	20	1	0	8.00594e-06	0.007413	9.83186e-06	19	20				
SAFB2	9667	broad.mit.edu	37	19	5598876	5598876	+	Silent	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:5598876C>G	ENST00000252542.4	-	13	1974	c.1710G>C	c.(1708-1710)cgG>cgC	p.R570R	SAFB2_ENST00000591310.1_5'Flank	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	570					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TCACGACCGTCCGCTCCATTC	0.507																																					Ovarian(127;888 1728 23957 44128 52668)	ENST00000252542.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1708-1710)cgG>cgC		scaffold attachment factor B2							202.0	156.0	171.0					19																	5598876		2203	4300	6503	SO:0001819	synonymous_variant	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5598876C>G	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.1710G>C	19.37:g.5598876C>G							p.R570R	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	13	1974	-			570					B4DKG3|Q8TB13	Silent	SNP	ENST00000252542.4	37	c.1710G>C	CCDS32879.1																																																																																				0.507	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		26	48	0	0	0	0.008361	0	26	48				
ABT1	29777	broad.mit.edu	37	6	26597372	26597372	+	Silent	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:26597372G>T	ENST00000274849.1	+	1	193	c.162G>T	c.(160-162)ccG>ccT	p.P54P		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	54	RRM.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron differentiation (GO:0021522)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						GCCATATCCCGCCGCGCTTCC	0.612																																						ENST00000274849.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(160-162)ccG>ccT		activator of basal transcription 1							47.0	57.0	54.0					6																	26597372		2203	4300	6503	SO:0001819	synonymous_variant	29777				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity	g.chr6:26597372G>T	AB027258	CCDS4616.1	6p21.31	2008-07-07			ENSG00000146109	ENSG00000146109			17369	protein-coding gene	gene with protein product						10648625	Standard	NM_013375		Approved		uc003nii.3	Q9ULW3	OTTHUMG00000016319	ENST00000274849.1:c.162G>T	6.37:g.26597372G>T							p.P54P	NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN			1	193	+			54			RRM.			Silent	SNP	ENST00000274849.1	37	c.162G>T	CCDS4616.1																																																																																				0.612	ABT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043698.1			16	28	1	0	2.32078e-09	0.003163	3.03088e-09	16	28				
DUSP6	1848	broad.mit.edu	37	12	89745444	89745444	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:89745444C>T	ENST00000279488.7	-	1	1604	c.373G>A	c.(373-375)Gag>Aag	p.E125K	DUSP6_ENST00000308385.6_Missense_Mutation_p.E125K|DUSP6_ENST00000547140.1_5'Flank|DUSP6_ENST00000547291.1_5'Flank	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	125	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CGGCAGCCCTCGTCCTTGAGC	0.687																																					Colon(132;3456 5224)	ENST00000279488.7																			0				large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						c.(373-375)Gag>Aag		dual specificity phosphatase 6							8.0	9.0	8.0					12																	89745444		2144	4202	6346	SO:0001583	missense	1848				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:89745444C>T	BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.373G>A	12.37:g.89745444C>T	ENSP00000279488:p.Glu125Lys					DUSP6_ENST00000308385.6_Missense_Mutation_p.E125K	p.E125K	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN			1	1604	-			125			Rhodanese.		O75109|Q53Y75|Q9BSH6	Missense_Mutation	SNP	ENST00000279488.7	37	c.373G>A	CCDS9033.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711981	0.89112	.	.	ENSG00000139318	ENST00000279488;ENST00000308385	T;T	0.25250	1.81;1.81	5.27	5.27	0.74061	Rhodanese-like (5);	0.049197	0.85682	D	0.000000	T	0.44350	0.1289	M	0.69358	2.11	0.80722	D	1	P;B	0.52170	0.951;0.284	P;B	0.55871	0.786;0.267	T	0.10543	-1.0625	10	0.32370	T	0.25	.	18.0661	0.89391	0.0:1.0:0.0:0.0	.	125;125	Q16828-2;Q16828	.;DUS6_HUMAN	K	125	ENSP00000279488:E125K;ENSP00000307835:E125K	ENSP00000279488:E125K	E	-	1	0	DUSP6	88269575	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.573000	0.82421	2.748000	0.94277	0.655000	0.94253	GAG		0.687	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2	NM_001946, NM_022652		6	2	0	0	0	0.001168	0	6	2				
RABEP2	79874	broad.mit.edu	37	16	28917494	28917494	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:28917494G>A	ENST00000358201.4	-	9	1857	c.1269C>T	c.(1267-1269)tgC>tgT	p.C423C	RABEP2_ENST00000357573.6_Silent_p.C391C|RABEP2_ENST00000544477.1_Silent_p.C352C	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	423					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CTTGCCGCGTGCAGCACAGCA	0.716																																					Pancreas(66;639 1284 10093 31061 49099)	ENST00000358201.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						c.(1267-1269)tgC>tgT		rabaptin, RAB GTPase binding effector protein 2							6.0	8.0	7.0					16																	28917494		1887	3986	5873	SO:0001819	synonymous_variant	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28917494G>A	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.1269C>T	16.37:g.28917494G>A						RABEP2_ENST00000544477.1_Silent_p.C352C|RABEP2_ENST00000357573.6_Silent_p.C391C	p.C423C	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN			9	1857	-			423						Silent	SNP	ENST00000358201.4	37	c.1269C>T	CCDS42140.1																																																																																				0.716	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		7	10	0	0	0	0.004482	0	7	10				
SEZ6L2	26470	broad.mit.edu	37	16	29888756	29888756	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:29888756A>T	ENST00000308713.5	-	11	2272	c.1745T>A	c.(1744-1746)cTg>cAg	p.L582Q	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.L538Q|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.L468Q|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.L512Q	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	582	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCGTCGAACAGCGTCAGCAT	0.692																																						ENST00000308713.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1744-1746)cTg>cAg		seizure related 6 homolog (mouse)-like 2							22.0	24.0	24.0					16																	29888756		2196	4298	6494	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29888756A>T	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1745T>A	16.37:g.29888756A>T	ENSP00000312550:p.Leu582Gln					SEZ6L2_ENST00000350527.3_Missense_Mutation_p.L512Q|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.L468Q|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.L538Q	p.L582Q	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN			11	2272	-			582			CUB 3.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.1745T>A	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	A	34	5.323825	0.95708	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.57	5.57	0.84162	CUB (5);	0.000000	0.40554	N	0.001074	T	0.58075	0.2097	M	0.71036	2.16	0.48452	D	0.999654	D;D;D;D;D;D	0.71674	0.997;0.997;0.996;0.995;0.996;0.998	D;D;D;P;D;D	0.67103	0.935;0.949;0.93;0.885;0.93;0.937	T	0.61277	-0.7095	10	0.59425	D	0.04	.	14.7065	0.69194	1.0:0.0:0.0:0.0	.	538;582;468;512;582;512	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	Q	512;582;468;538	ENSP00000310206:L512Q;ENSP00000312550:L582Q;ENSP00000319215:L468Q;ENSP00000439412:L538Q	ENSP00000312550:L582Q	L	-	2	0	SEZ6L2	29796257	0.582000	0.26749	0.946000	0.38457	0.850000	0.48378	5.657000	0.67996	2.116000	0.64780	0.533000	0.62120	CTG		0.692	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		10	26	0	0	0	0.000978	0	10	26				
METTL3	56339	broad.mit.edu	37	14	21969087	21969087	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr14:21969087C>T	ENST00000298717.4	-	5	1235	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	362					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GCACTGGAATCACCTCCGACA	0.507																																						ENST00000298717.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1084-1086)Gat>Aat		methyltransferase like 3							62.0	54.0	57.0					14																	21969087		2203	4300	6503	SO:0001583	missense	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21969087C>T	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.1084G>A	14.37:g.21969087C>T	ENSP00000298717:p.Asp362Asn						p.D362N	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	5	1235	-	all_cancers(95;0.000628)		362					O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	c.1084G>A	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689272	0.48097	.	.	ENSG00000165819	ENST00000298717	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.39708	0.1088	N	0.12746	0.255	0.80722	D	1	B	0.31837	0.342	B	0.25884	0.064	T	0.23976	-1.0173	9	0.25751	T	0.34	-15.3078	18.332	0.90272	0.0:1.0:0.0:0.0	.	362	Q86U44	MTA70_HUMAN	N	362	.	ENSP00000298717:D362N	D	-	1	0	METTL3	21038927	1.000000	0.71417	1.000000	0.80357	0.269000	0.26545	6.796000	0.75145	2.861000	0.98227	0.655000	0.94253	GAT		0.507	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		12	8	0	0	0	0.001855	0	12	8				
CYP21A1P	1590	broad.mit.edu	37	6	31975532	31975532	+	5'Flank	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:31975532C>T	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							GGACCGTGCACGGCTGCCCTT	0.657																																						ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	1590						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975532C>T																													6.37:g.31975532C>T	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1455	+									RNA	SNP	ENST00000594256.1	37																																																																																						0.657	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				19	19	0	0	0	0.007413	0	19	19				
MMP13	4322	broad.mit.edu	37	11	102818711	102818711	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:102818711C>G	ENST00000260302.3	-	8	1148	c.1120G>C	c.(1120-1122)Ggt>Cgt	p.G374R	MMP13_ENST00000340273.4_Missense_Mutation_p.G374R	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	374	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	TTTGGAAGACCCAGTTCAGAT	0.403																																						ENST00000260302.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(1120-1122)Ggt>Cgt		matrix metallopeptidase 13 (collagenase 3)							105.0	91.0	96.0					11																	102818711		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102818711C>G	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.1120G>C	11.37:g.102818711C>G	ENSP00000260302:p.Gly374Arg					MMP13_ENST00000340273.4_Missense_Mutation_p.G374R	p.G374R	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	8	1148	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	374			Hemopexin-like 2.		A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.1120G>C	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564837	0.86439	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.04317	3.65;3.65	5.82	5.82	0.92795	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	M	0.89904	3.07	0.80722	D	1	D	0.53312	0.959	P	0.60789	0.879	T	0.03875	-1.0996	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	374	P45452	MMP13_HUMAN	R	374	ENSP00000260302:G374R;ENSP00000339672:G374R	ENSP00000260302:G374R	G	-	1	0	MMP13	102323921	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.764000	0.85297	2.752000	0.94435	0.655000	0.94253	GGT		0.403	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		21	13	0	0	0	0.008871	0	21	13				
DOCK9	23348	broad.mit.edu	37	13	99452600	99452600	+	Missense_Mutation	SNP	G	G	A	rs368761374		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr13:99452600G>A	ENST00000376460.1	-	53	5980	c.5900C>T	c.(5899-5901)tCg>tTg	p.S1967L	DOCK9_ENST00000339416.2_Missense_Mutation_p.S1954L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1968	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CACCTCGGCCGAGGAGCACAG	0.612																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(5899-5901)tCg>tTg		dedicator of cytokinesis 9		G	LEU/SER,LEU/SER	0,4300		0,0,2150	43.0	46.0	45.0		5903,5900	4.5	1.0	13		45	1,8525		0,1,4262	no	missense,missense	DOCK9	NM_015296.2,NM_001130048.1	145,145	0,1,6412	AA,AG,GG		0.0117,0.0,0.0078	benign,benign	1968/2070,1967/2069	99452600	1,12825	2150	4263	6413	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99452600G>A	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.5900C>T	13.37:g.99452600G>A	ENSP00000365643:p.Ser1967Leu					DOCK9_ENST00000339416.2_Missense_Mutation_p.S1954L	p.S1967L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			53	5980	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1968			DHR-2.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.5900C>T	CCDS45062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.70|17.70	3.455214|3.455214	0.63401|0.63401	0.0|0.0	1.17E-4|1.17E-4	ENSG00000088387|ENSG00000088387	ENST00000419908|ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000376453	.|T;T	.|0.18657	.|2.2;2.2	5.32|5.32	4.46|4.46	0.54185|0.54185	.|.	.|0.261299	.|0.39909	.|N	.|0.001225	T|T	0.23492|0.23492	0.0568|0.0568	M|M	0.69185|0.69185	2.1|2.1	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B	.|0.17038	.|0.001;0.003;0.014;0.02;0.018;0.001	.|B;B;B;B;B;B	.|0.17098	.|0.003;0.007;0.01;0.017;0.006;0.004	T|T	0.04386|0.04386	-1.0955|-1.0955	5|10	.|0.54805	.|T	.|0.06	.|.	9.5925|9.5925	0.39554|0.39554	0.0741:0.1434:0.7826:0.0|0.0741:0.1434:0.7826:0.0	.|.	.|673;586;1967;1968;623;585	.|B7Z6H5;B7Z2J2;Q9BZ29-5;Q9BZ29;B7Z6G9;F5H1Q4	.|.;.;.;DOCK9_HUMAN;.;.	W|L	371|1967;1968;1960;1945;1967;875;1954;585	.|ENSP00000365643:S1967L;ENSP00000341086:S1954L	.|ENSP00000341086:S1954L	R|S	-|-	1|2	2|0	DOCK9|DOCK9	98250601|98250601	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.992000|0.992000	0.81027|0.81027	5.974000|5.974000	0.70465|0.70465	1.332000|1.332000	0.45431|0.45431	0.561000|0.561000	0.74099|0.74099	CGG|TCG		0.612	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		11	21	0	0	0	0.000978	0	11	21				
TP53	7157	broad.mit.edu	37	17	7577557	7577557	+	Missense_Mutation	SNP	A	A	T	rs397516437		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:7577557A>T	ENST00000269305.4	-	7	913	c.724T>A	c.(724-726)Tgc>Agc	p.C242S	TP53_ENST00000445888.2_Missense_Mutation_p.C242S|TP53_ENST00000359597.4_Missense_Mutation_p.C242S|TP53_ENST00000413465.2_Missense_Mutation_p.C242S|TP53_ENST00000455263.2_Missense_Mutation_p.C242S|TP53_ENST00000420246.2_Missense_Mutation_p.C242S|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	242	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:16959974}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C242R(12)|p.C242S(10)|p.0?(8)|p.?(5)|p.N239_C242delNSSC(3)|p.C242G(2)|p.S241del(2)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.C242fs*5(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCGCCCATGCAGGAACTGTTA	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		55	Substitution - Missense(24)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex - deletion inframe(1)	p.C242R(12)|p.C242S(10)|p.0?(8)|p.?(5)|p.N239_C242delNSSC(3)|p.C242G(2)|p.S241del(2)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.C242fs*5(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)	breast(8)|large_intestine(7)|biliary_tract(5)|upper_aerodigestive_tract(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|liver(3)|ovary(3)|pancreas(3)|prostate(3)|stomach(2)|oesophagus(2)|lung(2)|urinary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(724-726)Tgc>Agc	Other conserved DNA damage response genes	tumor protein p53							138.0	106.0	117.0					17																	7577557		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577557A>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.724T>A	17.37:g.7577557A>T	ENSP00000269305:p.Cys242Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.C242S|TP53_ENST00000359597.4_Missense_Mutation_p.C242S|TP53_ENST00000455263.2_Missense_Mutation_p.C242S|TP53_ENST00000269305.4_Missense_Mutation_p.C242S|TP53_ENST00000413465.2_Missense_Mutation_p.C242S	p.C242S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	856	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	242		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.724T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.639501	0.87760	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99914	-7.98;-7.98;-7.98;-7.98;-7.98;-7.98;-7.98;-7.98	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99924	0.9965	M	0.92784	3.345	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.999	D	0.95737	0.8780	10	0.87932	D	0	-27.558	12.3101	0.54924	1.0:0.0:0.0:0.0	.	242;242;149;242;242;242	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	242;242;242;242;242;242;231;149;110;149	ENSP00000410739:C242S;ENSP00000352610:C242S;ENSP00000269305:C242S;ENSP00000398846:C242S;ENSP00000391127:C242S;ENSP00000391478:C242S;ENSP00000425104:C110S;ENSP00000423862:C149S	ENSP00000269305:C242S	C	-	1	0	TP53	7518282	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	TGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		67	22	0	0	0	0.003610	0	67	22				
DENND4C	55667	broad.mit.edu	37	9	19316463	19316463	+	Silent	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:19316463G>T	ENST00000380432.2	+	7	861	c.828G>T	c.(826-828)ccG>ccT	p.P276P	DENND4C_ENST00000602925.1_Silent_p.P512P|DENND4C_ENST00000434457.2_Silent_p.P512P			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	276					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CCAAAAAGCCGTGCAAAAATC	0.328																																						ENST00000380432.2																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(826-828)ccG>ccT		DENN/MADD domain containing 4C							75.0	77.0	76.0					9																	19316463		2203	4300	6503	SO:0001819	synonymous_variant	55667					integral to membrane		g.chr9:19316463G>T	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.828G>T	9.37:g.19316463G>T						DENND4C_ENST00000307015.9_5'UTR|DENND4C_ENST00000434457.2_Silent_p.P512P|DENND4C_ENST00000602925.1_Silent_p.P512P	p.P276P	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN			7	861	+			276					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Silent	SNP	ENST00000380432.2	37	c.828G>T																																																																																					0.328	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		11	2	1	0	7.03913e-09	0.001368	9.15871e-09	11	2				
PCDH11X	27328	broad.mit.edu	37	X	91090459	91090459	+	5'UTR	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:91090459G>T	ENST00000373094.1	+	0	801				PCDH11X_ENST00000373097.1_5'UTR|PCDH11X_ENST00000395337.2_Splice_Site|PCDH11X_ENST00000373088.1_5'Flank|PCDH11X_ENST00000504220.2_5'Flank|PCDH11X_ENST00000406881.1_5'Flank|PCDH11X_ENST00000298274.8_5'Flank|PCDH11X_ENST00000361655.2_5'Flank|PCDH11X_ENST00000361724.1_5'UTR	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked						homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTTTTGGTCAGTGTTGTGCGG	0.403																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000395337.2																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.e4-1		protocadherin 11 X-linked							86.0	80.0	82.0					X																	91090459		2203	4300	6503	SO:0001623	5_prime_UTR_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090459G>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.-45G>T	X.37:g.91090459G>T						PCDH11X_ENST00000361724.1_5'UTR|PCDH11X_ENST00000373094.1_5'UTR|PCDH11X_ENST00000373097.1_5'UTR		NM_032967.2	NP_116749.1	Q9BZA7	PC11X_HUMAN			4	589	+								A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Splice_Site	SNP	ENST00000373094.1	37		CCDS14461.1																																																																																				0.403	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		38	11	1	0	1.96642e-18	0.006999	2.92871e-18	38	11				
COL6A2	1292	broad.mit.edu	37	21	47552400	47552400	+	Missense_Mutation	SNP	C	C	A	rs376362856		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr21:47552400C>A	ENST00000300527.4	+	28	3098	c.2994C>A	c.(2992-2994)caC>caA	p.H998Q		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	998	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCGTGTTCCACGAGAAGGACT	0.677																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2992-2994)caC>caA		collagen, type VI, alpha 2							53.0	45.0	48.0					21																	47552400		2201	4299	6500	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47552400C>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2994C>A	21.37:g.47552400C>A	ENSP00000300527:p.His998Gln						p.H998Q	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	28	3098	+	Breast(49;0.245)		998			Nonhelical region.|VWFA 3.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2994C>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	6.434	0.448212	0.12223	.	.	ENSG00000142173	ENST00000300527	D	0.82984	-1.67	4.4	-8.81	0.00813	von Willebrand factor, type A (3);	0.286130	0.36703	N	0.002447	T	0.47229	0.1434	N	0.02011	-0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21143	-1.0254	10	0.48119	T	0.1	-9.1877	2.1975	0.03915	0.2099:0.1031:0.3942:0.2928	.	998	P12110	CO6A2_HUMAN	Q	998	ENSP00000300527:H998Q	ENSP00000300527:H998Q	H	+	3	2	COL6A2	46376828	0.163000	0.22920	0.799000	0.32177	0.176000	0.22953	-0.488000	0.06497	-1.867000	0.01144	-0.707000	0.03653	CAC		0.677	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			7	18	1	0	8.12818e-05	0.001984	9.878e-05	7	18				
OR6K2	81448	broad.mit.edu	37	1	158669597	158669597	+	Missense_Mutation	SNP	C	C	G	rs141159720	byFrequency	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:158669597C>G	ENST00000359610.2	-	1	889	c.846G>C	c.(844-846)ttG>ttC	p.L282F		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGAAGGGAGACAAAACTGCAA	0.403																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(844-846)ttG>ttC		olfactory receptor, family 6, subfamily K, member 2							99.0	95.0	96.0					1																	158669597		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669597C>G	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.846G>C	1.37:g.158669597C>G	ENSP00000352626:p.Leu282Phe						p.L282F	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	889	-	all_hematologic(112;0.0378)		282					B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.846G>C	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734427	0.30774	.	.	ENSG00000196171	ENST00000359610	T	0.00202	8.56	4.94	0.778	0.18543	GPCR, rhodopsin-like superfamily (1);	0.526437	0.14024	N	0.346593	T	0.00073	0.0002	L	0.60455	1.87	0.09310	N	1	B	0.29671	0.254	B	0.41202	0.35	T	0.29941	-0.9995	10	0.66056	D	0.02	-7.6189	3.3173	0.07038	0.1399:0.5727:0.1359:0.1515	.	282	Q8NGY2	OR6K2_HUMAN	F	282	ENSP00000352626:L282F	ENSP00000352626:L282F	L	-	3	2	OR6K2	156936221	0.000000	0.05858	0.087000	0.20705	0.912000	0.54170	-1.640000	0.02009	-0.019000	0.14055	0.655000	0.94253	TTG		0.403	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		10	29	0	0	0	0.006214	0	10	29				
DUS3L	56931	broad.mit.edu	37	19	5786796	5786796	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:5786796C>T	ENST00000309061.7	-	9	1546	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	DUS3L_ENST00000320699.8_Missense_Mutation_p.E242K|CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000590681.1_5'Flank|PRR22_ENST00000419421.2_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	484							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TGCACGCACTCCTCGATGTAC	0.667																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(1450-1452)Gag>Aag		dihydrouridine synthase 3-like (S. cerevisiae)							36.0	42.0	40.0					19																	5786796		2198	4297	6495	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5786796C>T		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1450G>A	19.37:g.5786796C>T	ENSP00000311977:p.Glu484Lys					DUS3L_ENST00000320699.8_Missense_Mutation_p.E242K	p.E484K	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			9	1546	-			484					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.1450G>A	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.176133	0.38413	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.30981	1.51;1.51	5.01	3.95	0.45737	Aldolase-type TIM barrel (1);	0.398964	0.27720	N	0.018123	T	0.22244	0.0536	N	0.21545	0.675	0.32095	N	0.591319	B;B	0.11235	0.002;0.004	B;B	0.22152	0.008;0.038	T	0.14671	-1.0464	10	0.30854	T	0.27	-24.0801	13.3013	0.60326	0.0:0.1632:0.8368:0.0	.	242;484	Q96G46-3;Q96G46	.;DUS3L_HUMAN	K	484;242	ENSP00000311977:E484K;ENSP00000315558:E242K	ENSP00000311977:E484K	E	-	1	0	DUS3L	5737796	0.954000	0.32549	1.000000	0.80357	0.840000	0.47671	1.780000	0.38634	1.101000	0.41535	-0.290000	0.09829	GAG		0.667	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		19	33	0	0	0	0.002299	0	19	33				
HAO1	54363	broad.mit.edu	37	20	7895010	7895010	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr20:7895010C>T	ENST00000378789.3	-	3	397	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	116	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCCACTTCTTCAATTGAGGAG	0.532																																						ENST00000378789.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(346-348)Gaa>Aaa		hydroxyacid oxidase (glycolate oxidase) 1							81.0	59.0	67.0					20																	7895010		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7895010C>T	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.346G>A	20.37:g.7895010C>T	ENSP00000368066:p.Glu116Lys						p.E116K	NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN			3	397	-			116			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.346G>A	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	36	5.701865	0.96812	.	.	ENSG00000101323	ENST00000378789	T	0.39406	1.08	5.99	5.99	0.97316	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.69886	0.3161	M	0.86740	2.835	0.80722	D	1	P;P	0.51147	0.942;0.942	P;P	0.61201	0.885;0.885	T	0.72858	-0.4165	10	0.72032	D	0.01	-9.5159	20.4777	0.99188	0.0:1.0:0.0:0.0	.	116;116	A8K058;Q9UJM8	.;HAOX1_HUMAN	K	116	ENSP00000368066:E116K	ENSP00000368066:E116K	E	-	1	0	HAO1	7843010	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.456000	0.80751	2.840000	0.97914	0.655000	0.94253	GAA		0.532	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			14	36	0	0	0	0.001855	0	14	36				
P2RY2	5029	broad.mit.edu	37	11	72946311	72946311	+	Missense_Mutation	SNP	C	C	G	rs145119561		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:72946311C>G	ENST00000311131.2	+	3	1574	c.1107C>G	c.(1105-1107)agC>agG	p.S369R	P2RY2_ENST00000393597.2_Missense_Mutation_p.S369R|P2RY2_ENST00000393596.2_Missense_Mutation_p.S369R	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	369					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CGGCTGGTAGCGAGAACACTA	0.552																																						ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(1105-1107)agC>agG		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						87.0	90.0	89.0					11																	72946311		2123	4152	6275	SO:0001583	missense	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72946311C>G	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.1107C>G	11.37:g.72946311C>G	ENSP00000310305:p.Ser369Arg					P2RY2_ENST00000393596.2_Missense_Mutation_p.S369R|P2RY2_ENST00000393597.2_Missense_Mutation_p.S369R	p.S369R	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	1574	+			369					B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	c.1107C>G	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	c	0.061	-1.224445	0.01530	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.73897	-0.79;-0.79;-0.79	3.87	-7.74	0.01241	.	0.534301	0.15699	N	0.249032	T	0.46560	0.1399	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.19516	-1.0303	10	0.66056	D	0.02	.	9.3621	0.38201	0.0:0.2345:0.1051:0.6604	.	369	P41231	P2RY2_HUMAN	R	369	ENSP00000377222:S369R;ENSP00000310305:S369R;ENSP00000377221:S369R	ENSP00000310305:S369R	S	+	3	2	P2RY2	72623959	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.447000	0.01010	-2.118000	0.00828	-4.018000	0.00013	AGC		0.552	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		47	35	0	0	0	0.003610	0	47	35				
MORC1	27136	broad.mit.edu	37	3	108778707	108778707	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:108778707T>G	ENST00000483760.1	-	12	1020	c.977A>C	c.(976-978)cAg>cCg	p.Q326P	MORC1_ENST00000232603.5_Missense_Mutation_p.Q326P					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CAAAGCTCTCTGTAATACATC	0.358																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(976-978)cAg>cCg		MORC family CW-type zinc finger 1							136.0	120.0	125.0					3																	108778707		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108778707T>G	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.977A>C	3.37:g.108778707T>G	ENSP00000417282:p.Gln326Pro					MORC1_ENST00000483760.1_Missense_Mutation_p.Q326P	p.Q326P	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			12	1059	-			326						Missense_Mutation	SNP	ENST00000483760.1	37	c.977A>C		.	.	.	.	.	.	.	.	.	.	T	13.59	2.281695	0.40394	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06218	3.33;3.34	5.02	-0.263	0.12954	.	0.730120	0.11841	N	0.524317	T	0.10937	0.0267	M	0.63428	1.95	0.28472	N	0.915364	D;D	0.67145	0.996;0.965	P;P	0.53649	0.731;0.579	T	0.20075	-1.0286	10	0.30854	T	0.27	0.2174	4.4622	0.11671	0.0:0.1764:0.3261:0.4975	.	326;326	E7ERX1;Q86VD1	.;MORC1_HUMAN	P	326	ENSP00000232603:Q326P;ENSP00000417282:Q326P	ENSP00000232603:Q326P	Q	-	2	0	MORC1	110261397	1.000000	0.71417	0.565000	0.28409	0.946000	0.59487	0.630000	0.24553	-0.173000	0.10761	0.528000	0.53228	CAG		0.358	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			7	51	0	0	0	0.003080	0	7	51				
NSMF	26012	broad.mit.edu	37	9	140346851	140346851	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:140346851C>G	ENST00000371475.3	-	12	1433	c.1202G>C	c.(1201-1203)gGa>gCa	p.G401A	NSMF_ENST00000541195.1_Missense_Mutation_p.G198A|NSMF_ENST00000371473.3_Missense_Mutation_p.G371A|NSMF_ENST00000484316.1_5'UTR|NSMF_ENST00000392812.4_Missense_Mutation_p.G378A|NSMF_ENST00000265663.7_Missense_Mutation_p.G399A|NSMF_ENST00000371482.1_Missense_Mutation_p.G65A|NSMF_ENST00000371474.3_Missense_Mutation_p.G376A|NSMF_ENST00000339554.3_Missense_Mutation_p.G198A|NSMF_ENST00000371472.2_Missense_Mutation_p.G399A|NSMF_ENST00000437259.1_Missense_Mutation_p.G378A	NM_001130969.1	NP_001124441.1	Q6X4W1	NSMF_HUMAN	NMDA receptor synaptonuclear signaling and neuronal migration factor	401					cellular response to amino acid stimulus (GO:0071230)|cellular response to electrical stimulus (GO:0071257)|cellular response to gonadotropin stimulus (GO:0071371)|positive regulation of neuron migration (GO:2001224)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuronal synaptic plasticity (GO:0048168)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuron projection (GO:0043005)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium-dependent protein binding (GO:0048306)										GATCTTGGCTCCCTTGTGGTA	0.617																																						ENST00000371475.3																			0											c.(1201-1203)gGa>gCa		NMDA receptor synaptonuclear signaling and neuronal migration factor							187.0	168.0	174.0					9																	140346851		2200	4298	6498	SO:0001583	missense	26012							g.chr9:140346851C>G		CCDS7044.1, CCDS48067.1, CCDS48068.1, CCDS48069.1, CCDS55357.1	9q34.3	2013-01-14	2013-01-14	2013-01-14	ENSG00000165802	ENSG00000165802			29843	protein-coding gene	gene with protein product		608137	"""nasal embryonic LHRH factor"""	NELF		11230166, 10898796	Standard	NM_015537		Approved		uc004cna.3	Q6X4W1	OTTHUMG00000020989	ENST00000371475.3:c.1202G>C	9.37:g.140346851C>G	ENSP00000360530:p.Gly401Ala					NSMF_ENST00000437259.1_Missense_Mutation_p.G378A|NSMF_ENST00000265663.7_Missense_Mutation_p.G399A|NSMF_ENST00000371472.2_Missense_Mutation_p.G399A|NSMF_ENST00000392812.4_Missense_Mutation_p.G378A|NSMF_ENST00000339554.3_Missense_Mutation_p.G198A|NSMF_ENST00000371473.3_Missense_Mutation_p.G371A|NSMF_ENST00000371482.1_Missense_Mutation_p.G65A|NSMF_ENST00000541195.1_Missense_Mutation_p.G198A|NSMF_ENST00000371474.3_Missense_Mutation_p.G376A|NSMF_ENST00000484316.1_5'UTR	p.G401A	NM_001130969.1	NP_001124441.1					12	1433	-								Q2TB96|Q6X4V7|Q6X4V8|Q6X4V9|Q8N2M2|Q96SY1|Q9NPM4|Q9NPP3|Q9NPS3	Missense_Mutation	SNP	ENST00000371475.3	37	c.1202G>C	CCDS48069.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770886	0.90108	.	.	ENSG00000165802	ENST00000339554;ENST00000371475;ENST00000265663;ENST00000437259;ENST00000392812;ENST00000371474;ENST00000371473;ENST00000371482;ENST00000371472;ENST00000541195	T;T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.997;0.999;0.999;0.997;0.998;0.996;0.996	T	0.64110	-0.6484	10	0.87932	D	0	-9.3929	15.0992	0.72258	0.0:1.0:0.0:0.0	.	378;198;152;376;371;401;399	Q6X4W1-3;F5GZW0;Q9NTU2;Q2TB96;Q6X4W1-4;Q6X4W1;Q6X4W1-2	.;.;.;.;.;NELF_HUMAN;.	A	198;401;399;378;378;376;371;65;399;198	ENSP00000342966:G198A;ENSP00000360530:G401A;ENSP00000265663:G399A;ENSP00000412007:G378A;ENSP00000376559:G378A;ENSP00000360529:G376A;ENSP00000360528:G371A;ENSP00000360537:G65A;ENSP00000360527:G399A;ENSP00000444177:G198A	ENSP00000265663:G399A	G	-	2	0	NELF	139466672	1.000000	0.71417	0.999000	0.59377	0.841000	0.47740	5.615000	0.67702	2.434000	0.82447	0.455000	0.32223	GGA		0.617	NSMF-204	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015537		59	121	0	0	0	0.003610	0	59	121				
PPFIA2	8499	broad.mit.edu	37	12	81738464	81738464	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:81738464A>T	ENST00000549396.1	-	19	2401	c.2241T>A	c.(2239-2241)gaT>gaA	p.D747E	PPFIA2_ENST00000407050.4_Missense_Mutation_p.D673E|PPFIA2_ENST00000550359.2_Missense_Mutation_p.D594E|PPFIA2_ENST00000541570.2_Missense_Mutation_p.D314E|PPFIA2_ENST00000549325.1_Missense_Mutation_p.D729E|PPFIA2_ENST00000548586.1_Missense_Mutation_p.D747E|PPFIA2_ENST00000550584.2_Missense_Mutation_p.D747E|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Missense_Mutation_p.D729E|PPFIA2_ENST00000443686.3_Missense_Mutation_p.D648E|PPFIA2_ENST00000552948.1_Missense_Mutation_p.D747E|PPFIA2_ENST00000541017.1_5'UTR	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	747					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GTTTCCTCAGATCACTTGGCT	0.279																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(2239-2241)gaT>gaA		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							73.0	65.0	68.0					12																	81738464		1816	4072	5888	SO:0001583	missense	8499							g.chr12:81738464A>T	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2241T>A	12.37:g.81738464A>T	ENSP00000450337:p.Asp747Glu					PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000541570.2_Missense_Mutation_p.D314E|PPFIA2_ENST00000549396.1_Missense_Mutation_p.D747E|PPFIA2_ENST00000549325.1_Missense_Mutation_p.D729E|PPFIA2_ENST00000548586.1_Missense_Mutation_p.D747E|PPFIA2_ENST00000552948.1_Missense_Mutation_p.D747E|PPFIA2_ENST00000333447.7_Missense_Mutation_p.D729E|PPFIA2_ENST00000550359.2_Missense_Mutation_p.D594E|PPFIA2_ENST00000443686.3_Missense_Mutation_p.D648E|PPFIA2_ENST00000407050.4_Missense_Mutation_p.D673E	p.D747E	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			18	2536	-			673					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.2241T>A	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.596779	0.66332	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T	0.22134	2.29;2.3;1.98;1.97;2.3;2.29;1.97;2.3	5.76	3.43	0.39272	.	0.000000	0.85682	D	0.000000	T	0.33030	0.0849	L	0.48642	1.525	0.80722	D	1	D	0.58970	0.984	D	0.65443	0.935	T	0.01290	-1.1394	10	0.32370	T	0.25	-24.8667	9.6085	0.39648	0.7971:0.0:0.2029:0.0	.	747	O75334	LIPA2_HUMAN	E	747;729;314;673;758;729;747;648;747	ENSP00000450337:D747E;ENSP00000450298:D729E;ENSP00000438337:D314E;ENSP00000385093:D673E;ENSP00000327416:D729E;ENSP00000449338:D747E;ENSP00000388373:D648E;ENSP00000447868:D747E	ENSP00000327416:D729E	D	-	3	2	PPFIA2	80262595	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.978000	0.29488	0.466000	0.27193	0.533000	0.62120	GAT		0.279	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			3	0	0	0	0	0.004672	0	3	0				
PCDH10	57575	broad.mit.edu	37	4	134072226	134072226	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr4:134072226G>C	ENST00000264360.5	+	1	1757	c.931G>C	c.(931-933)Gag>Cag	p.E311Q	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	311	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGCAGACTGGAGGTAAGCGG	0.632																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(931-933)Gag>Cag		protocadherin 10							58.0	55.0	56.0					4																	134072226		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072226G>C	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.931G>C	4.37:g.134072226G>C	ENSP00000264360:p.Glu311Gln						p.E311Q	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1757	+			311			Cadherin 3.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.931G>C	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197813	0.58126	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.52295	0.67	4.34	4.34	0.51931	Cadherin (4);Cadherin-like (1);	0.000000	0.45867	D	0.000333	T	0.44623	0.1302	N	0.02539	-0.55	0.53688	D	0.999977	D;B	0.76494	0.999;0.078	D;B	0.83275	0.996;0.18	T	0.62863	-0.6764	10	0.51188	T	0.08	.	16.6535	0.85223	0.0:0.0:1.0:0.0	.	311;311	Q9P2E7;Q96SF0	PCD10_HUMAN;.	Q	311	ENSP00000264360:E311Q	ENSP00000264360:E311Q	E	+	1	0	PCDH10	134291676	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	4.581000	0.60949	2.230000	0.72887	0.407000	0.27541	GAG		0.632	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		37	23	0	0	0	0.003271	0	37	23				
ZHX2	22882	broad.mit.edu	37	8	123965602	123965602	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:123965602T>C	ENST00000314393.4	+	3	2687	c.1852T>C	c.(1852-1854)Tcc>Ccc	p.S618P		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	618					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGACCAGCTCTCCGGTGCCCA	0.532																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(1852-1854)Tcc>Ccc		zinc fingers and homeoboxes 2							67.0	64.0	65.0					8																	123965602		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123965602T>C	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1852T>C	8.37:g.123965602T>C	ENSP00000314709:p.Ser618Pro						p.S618P	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2687	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		618						Missense_Mutation	SNP	ENST00000314393.4	37	c.1852T>C	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	T	9.202	1.028657	0.19512	.	.	ENSG00000178764	ENST00000314393	T	0.19938	2.11	5.41	-1.06	0.10002	.	0.877358	0.10279	N	0.693773	T	0.11239	0.0274	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28933	-1.0028	10	0.72032	D	0.01	-9.4686	6.5105	0.22218	0.3592:0.0:0.2347:0.4061	.	618	Q9Y6X8	ZHX2_HUMAN	P	618	ENSP00000314709:S618P	ENSP00000314709:S618P	S	+	1	0	ZHX2	124034783	0.007000	0.16637	0.583000	0.28640	0.952000	0.60782	0.061000	0.14366	-0.322000	0.08615	0.459000	0.35465	TCC		0.532	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		25	52	0	0	0	0.003954	0	25	52				
OR2T3	343173	broad.mit.edu	37	1	248637239	248637239	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:248637239C>G	ENST00000359594.2	+	1	613	c.588C>G	c.(586-588)gaC>gaG	p.D196E		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTGCTCTGACGTCTCCCTCT	0.522																																						ENST00000359594.2																			0				breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(586-588)gaC>gaG		olfactory receptor, family 2, subfamily T, member 3							161.0	131.0	142.0					1																	248637239		2145	4251	6396	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637239C>G		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.588C>G	1.37:g.248637239C>G	ENSP00000352604:p.Asp196Glu						p.D196E	NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	613	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		196					B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.588C>G	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	c	14.91	2.675728	0.47781	.	.	ENSG00000196539	ENST00000359594	T	0.00227	8.5	2.37	-3.17	0.05202	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00384	0.0012	M	0.85099	2.735	0.09310	N	0.999999	P	0.49447	0.924	P	0.53185	0.72	T	0.15694	-1.0428	9	0.66056	D	0.02	.	8.5949	0.33710	0.0:0.4374:0.0:0.5626	.	196	Q8NH03	OR2T3_HUMAN	E	196	ENSP00000352604:D196E	ENSP00000352604:D196E	D	+	3	2	OR2T3	246703862	0.000000	0.05858	0.001000	0.08648	0.232000	0.25224	-1.050000	0.03510	-0.802000	0.04421	-1.202000	0.01658	GAC		0.522	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		107	273	0	0	0	0.003610	0	107	273				
DAB2	1601	broad.mit.edu	37	5	39376143	39376143	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:39376143C>G	ENST00000320816.6	-	13	2670	c.2203G>C	c.(2203-2205)Gag>Cag	p.E735Q	DAB2_ENST00000509337.1_Missense_Mutation_p.E714Q|DAB2_ENST00000339788.6_Missense_Mutation_p.E517Q|DAB2_ENST00000545653.1_Missense_Mutation_p.E714Q	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	735	Required for interaction with MYO6. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AAAGGGTTCTCAAATGCATTG	0.418																																						ENST00000545653.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47						c.(2140-2142)Gag>Cag		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)							106.0	107.0	107.0					5																	39376143		2203	4300	6503	SO:0001583	missense	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39376143C>G	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.2203G>C	5.37:g.39376143C>G	ENSP00000313391:p.Glu735Gln					DAB2_ENST00000339788.6_Missense_Mutation_p.E517Q|DAB2_ENST00000509337.1_Missense_Mutation_p.E714Q|DAB2_ENST00000320816.6_Missense_Mutation_p.E735Q	p.E714Q	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Epithelial(62;0.137)		12	2670	-	all_lung(31;0.000197)		735			Required for interaction with MYO6 (By similarity).		A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.2140G>C	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580270	0.86645	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.38401	1.15;1.15;1.14;1.14	5.76	5.76	0.90799	.	0.100157	0.64402	D	0.000002	T	0.59362	0.2188	L	0.60455	1.87	0.38683	D	0.952588	D;D	0.89917	0.999;1.0	D;D	0.74023	0.943;0.982	T	0.61729	-0.7003	10	0.72032	D	0.01	-16.9775	19.967	0.97274	0.0:1.0:0.0:0.0	.	735;714	P98082;P98082-3	DAB2_HUMAN;.	Q	735;517;714;714	ENSP00000313391:E735Q;ENSP00000345508:E517Q;ENSP00000439919:E714Q;ENSP00000426245:E714Q	ENSP00000313391:E735Q	E	-	1	0	DAB2	39411900	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.044000	0.64214	2.714000	0.92807	0.655000	0.94253	GAG		0.418	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		19	36	0	0	0	0.008871	0	19	36				
DDI2	84301	broad.mit.edu	37	1	15956910	15956910	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:15956910C>T	ENST00000480945.1	+	3	530	c.359C>T	c.(358-360)tCa>tTa	p.S120L		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	120							aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CAGTCCCACTCATCTCCTGGA	0.542																																						ENST00000480945.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17						c.(358-360)tCa>tTa		DNA-damage inducible 1 homolog 2 (S. cerevisiae)							94.0	87.0	89.0					1																	15956910		2203	4300	6503	SO:0001583	missense	84301				proteolysis		aspartic-type endopeptidase activity	g.chr1:15956910C>T		CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"""				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.359C>T	1.37:g.15956910C>T	ENSP00000417748:p.Ser120Leu						p.S120L	NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	3	530	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	120					A8KAE1|Q7RTZ0|Q9BRT1	Missense_Mutation	SNP	ENST00000480945.1	37	c.359C>T	CCDS30607.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556993	0.45590	.	.	ENSG00000197312	ENST00000480945	T	0.24538	1.85	5.67	3.76	0.43208	.	0.527388	0.18587	U	0.136856	T	0.14614	0.0353	N	0.11313	0.125	0.24772	N	0.992864	B	0.02656	0.0	B	0.01281	0.0	T	0.16276	-1.0408	10	0.37606	T	0.19	-28.6399	12.7461	0.57281	0.0:0.861:0.0:0.139	.	120	Q5TDH0	DDI2_HUMAN	L	120	ENSP00000417748:S120L	ENSP00000449475:S5L	S	+	2	0	DDI2	15829497	0.086000	0.21541	0.994000	0.49952	0.998000	0.95712	2.847000	0.48270	1.379000	0.46325	0.650000	0.86243	TCA		0.542	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1	NM_032341		33	15	0	0	0	0.002096	0	33	15				
CD226	10666	broad.mit.edu	37	18	67614187	67614187	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr18:67614187G>A	ENST00000280200.4	-	3	433	c.165C>T	c.(163-165)acC>acT	p.T55T	CD226_ENST00000582621.1_Silent_p.T55T|CD226_ENST00000577287.1_Intron|CD226_ENST00000581982.1_Intron	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	55	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				AATCCTGCTGGGTCCCGATCT	0.463																																					NSCLC(184;838 2130 8673 21498 50749)	ENST00000280200.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24						c.(163-165)acC>acT		CD226 molecule							110.0	91.0	98.0					18																	67614187		2203	4300	6503	SO:0001819	synonymous_variant	10666				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	g.chr18:67614187G>A	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.165C>T	18.37:g.67614187G>A						CD226_ENST00000577287.1_Intron|CD226_ENST00000582621.1_Silent_p.T55T|CD226_ENST00000581982.1_Intron	p.T55T	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN			3	433	-		Esophageal squamous(42;0.129)	55			Ig-like C2-type 1.		B2R818	Silent	SNP	ENST00000280200.4	37	c.165C>T	CCDS11997.1																																																																																				0.463	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566		21	15	0	0	0	0.001882	0	21	15				
TRRAP	8295	broad.mit.edu	37	7	98581764	98581764	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:98581764A>G	ENST00000359863.4	+	60	9292	c.9083A>G	c.(9082-9084)aAt>aGt	p.N3028S	TRRAP_ENST00000446306.3_Missense_Mutation_p.N2999S|TRRAP_ENST00000355540.3_Missense_Mutation_p.N2999S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3028	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCAGTTCAAATAACGCTATG	0.448																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(9082-9084)aAt>aGt		transformation/transcription domain-associated protein							131.0	121.0	125.0					7																	98581764		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98581764A>G	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9083A>G	7.37:g.98581764A>G	ENSP00000352925:p.Asn3028Ser					TRRAP_ENST00000355540.3_Missense_Mutation_p.N2999S|TRRAP_ENST00000446306.3_Missense_Mutation_p.N2999S	p.N3028S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		60	9292	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3028			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.9083A>G	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.920|9.920	1.211956|1.211956	0.22289|0.22289	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.62232	.|4.14;0.04	5.26|5.26	5.26|5.26	0.73747|0.73747	.|PIK-related kinase (1);PIK-related kinase, FAT (1);	.|0.050083	.|0.85682	.|D	.|0.000000	T|T	0.42177|0.42177	0.1191|0.1191	N|N	0.16130|0.16130	0.375|0.375	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.27416	.|0.147;0.097;0.178	.|B;B;B	.|0.28709	.|0.082;0.052;0.093	T|T	0.39375|0.39375	-0.9617|-0.9617	5|10	.|0.02654	.|T	.|1	.|.	15.1768|15.1768	0.72920|0.72920	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|2999;2738;3028	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	V|S	2739|3028;2999;2998	.|ENSP00000352925:N3028S;ENSP00000347733:N2999S	.|ENSP00000347733:N2999S	I|N	+|+	1|2	0|0	TRRAP|TRRAP	98419700|98419700	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.992000|0.992000	0.81027|0.81027	7.469000|7.469000	0.80959|0.80959	2.008000|2.008000	0.58898|0.58898	0.533000|0.533000	0.62120|0.62120	ATA|AAT		0.448	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		43	62	0	0	0	0.006999	0	43	62				
SLC2A2	6514	broad.mit.edu	37	3	170716928	170716928	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:170716928G>T	ENST00000314251.3	-	9	1175	c.1096C>A	c.(1096-1098)Cgt>Agt	p.R366S	SLC2A2_ENST00000382808.4_Missense_Mutation_p.R247S	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	366					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	AAGAGAGAACGTCGCCCTGCC	0.398																																						ENST00000314251.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1096-1098)Cgt>Agt		solute carrier family 2 (facilitated glucose transporter), member 2							156.0	138.0	144.0					3																	170716928		2203	4300	6503	SO:0001583	missense	6514				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	g.chr3:170716928G>T	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.1096C>A	3.37:g.170716928G>T	ENSP00000323568:p.Arg366Ser					SLC2A2_ENST00000382808.4_Missense_Mutation_p.R247S	p.R366S	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		9	1175	-	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		366					A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	37	c.1096C>A	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875034	0.51695	.	.	ENSG00000163581	ENST00000314251;ENST00000382808	D;D	0.84660	-1.88;-1.88	4.96	4.96	0.65561	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95220	0.8450	H	0.98333	4.205	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.96295	0.9217	10	0.87932	D	0	.	13.712	0.62674	0.0:0.0:0.8461:0.1539	.	366	P11168	GTR2_HUMAN	S	366;247	ENSP00000323568:R366S;ENSP00000372258:R247S	ENSP00000323568:R366S	R	-	1	0	SLC2A2	172199622	0.993000	0.37304	0.997000	0.53966	0.289000	0.27227	2.285000	0.43487	2.739000	0.93911	0.655000	0.94253	CGT		0.398	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		39	107	1	0	2.54651e-27	0.006999	4.01476e-27	39	107				
MET	4233	broad.mit.edu	37	7	116339752	116339752	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:116339752A>G	ENST00000318493.6	+	2	801	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	MET_ENST00000397752.3_Missense_Mutation_p.Y205C|MET_ENST00000436117.2_Missense_Mutation_p.Y205C			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AATTCTTCTTATTTCCCAGAT	0.418			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(613-615)tAt>tGt		met proto-oncogene							140.0	137.0	138.0					7																	116339752		1894	4112	6006	SO:0001583	missense	4233	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116339752A>G	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.614A>G	7.37:g.116339752A>G	ENSP00000317272:p.Tyr205Cys					MET_ENST00000436117.2_Missense_Mutation_p.Y205C|MET_ENST00000318493.6_Missense_Mutation_p.Y205C	p.Y205C	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		2	814	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	205			Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.614A>G	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	A	10.19	1.283018	0.23392	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.04502	3.61;3.61;3.61	6.17	3.64	0.41730	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.521170	0.20749	N	0.086383	T	0.16514	0.0397	M	0.84219	2.685	0.23238	N	0.998064	D;P;D;P;P;P;P;P;P;P;P;P;P	0.56968	0.978;0.909;0.974;0.909;0.909;0.909;0.909;0.909;0.836;0.508;0.797;0.899;0.899	P;P;P;P;P;P;P;P;P;P;P;P;P	0.59948	0.645;0.684;0.866;0.84;0.84;0.684;0.84;0.684;0.506;0.556;0.684;0.8;0.8	T	0.04041	-1.0982	10	0.52906	T	0.07	.	7.2487	0.26138	0.4814:0.3758:0.0:0.1428	.	205;205;205;205;205;205;205;205;205;205;205;205;205	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	C	205	ENSP00000380860:Y205C;ENSP00000317272:Y205C;ENSP00000410980:Y205C	ENSP00000317272:Y205C	Y	+	2	0	MET	116126988	0.004000	0.15560	0.486000	0.27416	0.650000	0.38633	0.745000	0.26259	1.119000	0.41883	0.533000	0.62120	TAT		0.418	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			67	89	0	0	0	0.003610	0	67	89				
KIAA1244	57221	broad.mit.edu	37	6	138601217	138601217	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:138601217G>A	ENST00000251691.4	+	14	2543	c.2377G>A	c.(2377-2379)Gtg>Atg	p.V793M		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTACCATCAGGTGCTCGACAG	0.552																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(2377-2379)Gtg>Atg		KIAA1244							120.0	103.0	109.0					6																	138601217		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138601217G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2377G>A	6.37:g.138601217G>A	ENSP00000251691:p.Val793Met						p.V793M	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	14	2543	+	Breast(32;0.135)		793			SEC7.			Missense_Mutation	SNP	ENST00000251691.4	37	c.2377G>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	31	5.064239	0.93898	.	.	ENSG00000112379	ENST00000251691	T	0.51574	0.7	5.86	5.86	0.93980	SEC7-like (1);	0.112704	0.64402	D	0.000013	T	0.63920	0.2552	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.64778	-0.6327	10	0.87932	D	0	-35.5157	20.1772	0.98182	0.0:0.0:1.0:0.0	.	793	Q5TH69	BIG3_HUMAN	M	793	ENSP00000251691:V793M	ENSP00000251691:V793M	V	+	1	0	KIAA1244	138642910	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.409000	0.97331	2.778000	0.95560	0.655000	0.94253	GTG		0.552	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		28	29	0	0	0	0.006320	0	28	29				
UNC13A	23025	broad.mit.edu	37	19	17728564	17728564	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:17728564G>A	ENST00000519716.2	-	41	4504	c.4505C>T	c.(4504-4506)aCg>aTg	p.T1502M	UNC13A_ENST00000252773.7_Missense_Mutation_p.T1502M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T1477M|UNC13A_ENST00000428389.2_Missense_Mutation_p.T1590M|UNC13A_ENST00000551649.1_Missense_Mutation_p.T1502M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T1475M	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1502	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGTGGCCTGCGTGTAGAGCGA	0.607																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(4768-4770)aCg>aTg		unc-13 homolog A (C. elegans)							108.0	115.0	113.0					19																	17728564		2082	4233	6315	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17728564G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4505C>T	19.37:g.17728564G>A	ENSP00000429562:p.Thr1502Met					UNC13A_ENST00000552293.1_Missense_Mutation_p.T1477M|UNC13A_ENST00000551649.1_Missense_Mutation_p.T1502M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T1475M|UNC13A_ENST00000252773.7_Missense_Mutation_p.T1502M|UNC13A_ENST00000519716.2_Missense_Mutation_p.T1502M	p.T1590M			Q9UPW8	UN13A_HUMAN			42	4768	-			1502			C2 3.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.4769C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079450	0.55753	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	4.01	4.01	0.46588	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.000000	0.85682	D	0.000000	D	0.87042	0.6079	M	0.86740	2.835	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	D	0.89594	0.3830	10	0.87932	D	0	-18.9242	13.9609	0.64177	0.0:0.0:1.0:0.0	.	1502	Q9UPW8	UN13A_HUMAN	M	1502;1590;1502;1502;1477;1475	ENSP00000429562:T1502M;ENSP00000400409:T1590M;ENSP00000252773:T1502M;ENSP00000447236:T1502M;ENSP00000447572:T1477M;ENSP00000446831:T1475M	ENSP00000252773:T1502M	T	-	2	0	UNC13A	17589564	1.000000	0.71417	0.994000	0.49952	0.105000	0.19272	9.684000	0.98659	1.952000	0.56665	0.313000	0.20887	ACG		0.607	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		50	72	0	0	0	0.003610	0	50	72				
OGDHL	55753	broad.mit.edu	37	10	50945898	50945898	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:50945898T>A	ENST00000374103.4	-	20	2609	c.2524A>T	c.(2524-2526)Atc>Ttc	p.I842F	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.I633F|OGDHL_ENST00000419399.1_Missense_Mutation_p.I785F	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	842					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGTGTGAAGATAATCAGCTGG	0.617																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(2524-2526)Atc>Ttc		oxoglutarate dehydrogenase-like							73.0	87.0	82.0					10																	50945898		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50945898T>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2524A>T	10.37:g.50945898T>A	ENSP00000363216:p.Ile842Phe					OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.I785F|OGDHL_ENST00000432695.1_Missense_Mutation_p.I633F	p.I842F	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			20	2609	-			842					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.2524A>T	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.748980	0.69533	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.91351	-2.83;-2.83;-2.83	5.19	-0.534	0.11883	Transketolase-like, pyrimidine-binding domain (2);	0.248550	0.38605	N	0.001624	D	0.91626	0.7354	M	0.79475	2.455	0.46298	D	0.998979	B;B;B	0.31209	0.112;0.313;0.136	B;B;P	0.44477	0.14;0.444;0.451	D	0.88690	0.3208	10	0.72032	D	0.01	.	10.9565	0.47360	0.0:0.4469:0.0:0.5531	.	785;633;842	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	F	842;785;633	ENSP00000363216:I842F;ENSP00000401356:I785F;ENSP00000390240:I633F	ENSP00000363216:I842F	I	-	1	0	OGDHL	50615904	0.010000	0.17322	0.981000	0.43875	0.993000	0.82548	-0.085000	0.11250	-0.061000	0.13110	0.528000	0.53228	ATC		0.617	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		33	50	0	0	0	0.002096	0	33	50				
RFX5	5993	broad.mit.edu	37	1	151315026	151315026	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:151315026G>C	ENST00000290524.4	-	11	1665	c.1487C>G	c.(1486-1488)tCa>tGa	p.S496*	RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000368870.2_Nonsense_Mutation_p.S496*|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452671.2_Nonsense_Mutation_p.S496*|RFX5_ENST00000452513.2_Nonsense_Mutation_p.S456*	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	496					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGGTAACCTTGAGGACTGGGC	0.577																																						ENST00000290524.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(1486-1488)tCa>tGa		regulatory factor X, 5 (influences HLA class II expression)							129.0	140.0	136.0					1																	151315026		2203	4300	6503	SO:0001587	stop_gained	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151315026G>C		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.1487C>G	1.37:g.151315026G>C	ENSP00000290524:p.Ser496*					RFX5_ENST00000368870.2_Nonsense_Mutation_p.S496*|RFX5_ENST00000452513.2_Nonsense_Mutation_p.S456*|RFX5_ENST00000452671.2_Nonsense_Mutation_p.S496*	p.S496*	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		11	1665	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		496					B7Z848|D3DV19|E9PFU4|Q5VWC3	Nonsense_Mutation	SNP	ENST00000290524.4	37	c.1487C>G	CCDS994.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195412	0.78902	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000452671;ENST00000452513;ENST00000392746	.	.	.	5.42	3.5	0.40072	.	0.638481	0.14751	N	0.300615	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-2.1499	8.0684	0.30674	0.0825:0.3031:0.6144:0.0	.	.	.	.	X	496;496;496;456;496	.	ENSP00000290524:S496X	S	-	2	0	RFX5	149581650	0.090000	0.21635	0.068000	0.19968	0.462000	0.32619	1.556000	0.36288	1.512000	0.48834	0.491000	0.48974	TCA		0.577	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		83	194	0	0	0	0.003610	0	83	194				
COL19A1	1310	broad.mit.edu	37	6	70856592	70856592	+	Silent	SNP	A	A	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:70856592A>T	ENST00000322773.4	+	26	1914	c.1812A>T	c.(1810-1812)ccA>ccT	p.P604P	COL19A1_ENST00000393344.1_Silent_p.P226P	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	604	Collagen-like 5.|Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CACGTGGGCCAAAGGTATACA	0.323																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(1810-1812)ccA>ccT		collagen, type XIX, alpha 1							37.0	41.0	39.0					6																	70856592		2203	4300	6503	SO:0001819	synonymous_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70856592A>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1812A>T	6.37:g.70856592A>T						COL19A1_ENST00000393344.1_Silent_p.P226P	p.P604P	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			26	1914	+			604			Triple-helical region 3 (COL3).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	c.1812A>T	CCDS4970.1																																																																																				0.323	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			5	11	0	0	0	0.001168	0	5	11				
CDH17	1015	broad.mit.edu	37	8	95174380	95174380	+	Silent	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:95174380G>T	ENST00000027335.3	-	11	1417	c.1293C>A	c.(1291-1293)acC>acA	p.T431T	CDH17_ENST00000441892.2_Silent_p.T217T|CDH17_ENST00000450165.2_Silent_p.T431T	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	431	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CAAAACAAAGGGTCTTGAAAT	0.313																																						ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(1291-1293)acC>acA		cadherin 17, LI cadherin (liver-intestine)							95.0	93.0	94.0					8																	95174380		2203	4300	6503	SO:0001819	synonymous_variant	1015					integral to membrane	calcium ion binding	g.chr8:95174380G>T	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1293C>A	8.37:g.95174380G>T						CDH17_ENST00000441892.2_Silent_p.T217T|CDH17_ENST00000450165.2_Silent_p.T431T	p.T431T	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		11	1417	-	Breast(36;4.65e-06)		431			Cadherin 4.		Q15336|Q2M2E0	Silent	SNP	ENST00000027335.3	37	c.1293C>A	CCDS6260.1																																																																																				0.313	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		13	30	1	0	6.72482e-11	0.003163	8.94939e-11	13	30				
SCN3A	6328	broad.mit.edu	37	2	165986510	165986510	+	Silent	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:165986510G>T	ENST00000360093.3	-	17	3353	c.2862C>A	c.(2860-2862)gtC>gtA	p.V954V	SCN3A_ENST00000283254.7_Silent_p.V954V|SCN3A_ENST00000409101.3_Silent_p.V905V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	954					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTGGCCAGCGACCTCCATAC	0.468																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(2860-2862)gtC>gtA		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						202.0	190.0	194.0					2																	165986510		2203	4300	6503	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165986510G>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2862C>A	2.37:g.165986510G>T						SCN3A_ENST00000283254.7_Silent_p.V954V|SCN3A_ENST00000409101.3_Silent_p.V905V	p.V954V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			17	3353	-			954					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.2862C>A																																																																																					0.468	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		188	143	1	0	3.0798e-103	0.003610	5.20739e-103	188	143				
DRP2	1821	broad.mit.edu	37	X	100494001	100494001	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:100494001C>T	ENST00000395209.3	+	6	997	c.470C>T	c.(469-471)cCc>cTc	p.P157L	DRP2_ENST00000402866.1_Missense_Mutation_p.P157L|DRP2_ENST00000541709.1_Missense_Mutation_p.P79L|DRP2_ENST00000538510.1_Missense_Mutation_p.P157L	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	157					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TCTCGGGGCCCCTACATCTAT	0.463																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(469-471)cCc>cTc		dystrophin related protein 2							132.0	118.0	123.0					X																	100494001		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100494001C>T	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.470C>T	X.37:g.100494001C>T	ENSP00000378635:p.Pro157Leu					DRP2_ENST00000402866.1_Missense_Mutation_p.P157L|DRP2_ENST00000541709.1_Missense_Mutation_p.P79L|DRP2_ENST00000538510.1_Missense_Mutation_p.P157L	p.P157L	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN			6	997	+			157					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.470C>T	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445825	0.84101	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.66806	-0.5830	10	0.72032	D	0.01	-13.6137	18.2643	0.90048	0.0:1.0:0.0:0.0	.	157	Q13474	DRP2_HUMAN	L	157;157;79;157	ENSP00000385038:P157L;ENSP00000378635:P157L;ENSP00000444752:P79L;ENSP00000441051:P157L	ENSP00000362007:P157L	P	+	2	0	DRP2	100380657	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.279000	0.78599	2.251000	0.74343	0.499000	0.49734	CCC		0.463	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		58	16	0	0	0	0.003610	0	58	16				
RP11-146E13.4	0	broad.mit.edu	37	14	19856854	19856854	+	lincRNA	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr14:19856854C>G	ENST00000548109.1	+	0	72																											CTCATGTCATCTACAGCACTC	0.343																																						ENST00000548109.1																			0																																																			0							g.chr14:19856854C>G																													14.37:g.19856854C>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.343	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			7	40	0	0	0	0.004482	0	7	40				
CLCNKB	1188	broad.mit.edu	37	1	16380200	16380200	+	Silent	SNP	A	A	G	rs185493054	byFrequency	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:16380200A>G	ENST00000375679.4	+	16	1800	c.1689A>G	c.(1687-1689)ccA>ccG	p.P563P	CLCNKB_ENST00000375667.3_Silent_p.P394P	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	563	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		AGGACATGCCACTGGAGGAGG	0.632													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18876	0.001		0.0	False		,,,				2504	0.0					ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21						c.(1687-1689)ccA>ccG		chloride channel, voltage-sensitive Kb							107.0	77.0	87.0					1																	16380200		2203	4300	6503	SO:0001819	synonymous_variant	1188							g.chr1:16380200A>G	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1689A>G	1.37:g.16380200A>G						CLCNKB_ENST00000375667.3_Silent_p.P394P	p.P563P	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	16	1800	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.1689A>G	CCDS168.1																																																																																				0.632	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		15	15	0	0	0	0.008871	0	15	15				
OR2T3	343173	broad.mit.edu	37	1	248637225	248637225	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:248637225C>T	ENST00000359594.2	+	1	599	c.574C>T	c.(574-576)Ctc>Ttc	p.L192F		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTGCTGAAGCTCTCCTGCTC	0.517																																						ENST00000359594.2																			0				breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(574-576)Ctc>Ttc		olfactory receptor, family 2, subfamily T, member 3							127.0	106.0	113.0					1																	248637225		2161	4270	6431	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637225C>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.574C>T	1.37:g.248637225C>T	ENSP00000352604:p.Leu192Phe						p.L192F	NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	599	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		192					B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.574C>T	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	c	15.66	2.899977	0.52227	.	.	ENSG00000196539	ENST00000359594	T	0.00392	7.58	2.37	1.42	0.22433	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01592	0.0051	H	0.98199	4.17	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.26224	-1.0109	9	0.87932	D	0	.	8.0052	0.30321	0.0:0.8622:0.0:0.1378	.	192	Q8NH03	OR2T3_HUMAN	F	192	ENSP00000352604:L192F	ENSP00000352604:L192F	L	+	1	0	OR2T3	246703848	0.081000	0.21417	0.001000	0.08648	0.334000	0.28698	0.366000	0.20365	0.109000	0.17891	0.186000	0.17326	CTC		0.517	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		192	155	0	0	0	0.003610	0	192	155				
COL4A1	1282	broad.mit.edu	37	13	110828798	110828798	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr13:110828798C>T	ENST00000375820.4	-	36	3152	c.3031G>A	c.(3031-3033)Gga>Aga	p.G1011R		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1011	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCAACAGATCCTTTTGGTCCC	0.483																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(3031-3033)Gga>Aga		collagen, type IV, alpha 1							95.0	82.0	86.0					13																	110828798		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110828798C>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.3031G>A	13.37:g.110828798C>T	ENSP00000364979:p.Gly1011Arg						p.G1011R	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		36	3152	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	1011			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.3031G>A	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830532	0.71258	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.99637	-6.29	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97038	0.9755	10	0.87932	D	0	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	1011	P02462	CO4A1_HUMAN	R	654;1011;660	ENSP00000364979:G1011R	ENSP00000364973:G654R	G	-	1	0	COL4A1	109626799	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.175000	0.77632	2.782000	0.95742	0.655000	0.94253	GGA		0.483	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			23	44	0	0	0	0.006320	0	23	44				
ST5	6764	broad.mit.edu	37	11	8737301	8737301	+	Missense_Mutation	SNP	C	C	T	rs144868309	byFrequency	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:8737301C>T	ENST00000534127.1	-	9	2079	c.1694G>A	c.(1693-1695)cGg>cAg	p.R565Q	ST5_ENST00000313726.6_Missense_Mutation_p.R565Q|ST5_ENST00000357665.1_Missense_Mutation_p.R565Q|ST5_ENST00000526757.1_Missense_Mutation_p.R145Q|ST5_ENST00000526099.1_Missense_Mutation_p.R78Q|ST5_ENST00000530991.1_Missense_Mutation_p.R37Q|ST5_ENST00000530438.1_Missense_Mutation_p.R145Q	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	565					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TCGTGGCAGCCGGTGGCTCTT	0.617													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17424	0.0		0.0	False		,,,				2504	0.0					ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1693-1695)cGg>cAg		suppression of tumorigenicity 5		C	GLN/ARG,GLN/ARG,GLN/ARG	0,4402		0,0,2201	102.0	87.0	92.0		1694,434,1694	5.6	1.0	11	dbSNP_134	92	2,8590	2.2+/-6.3	0,2,4294	no	missense,missense,missense	ST5	NM_005418.3,NM_139157.2,NM_213618.1	43,43,43	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	565/1138,145/718,565/1138	8737301	2,12992	2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8737301C>T	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1694G>A	11.37:g.8737301C>T	ENSP00000433528:p.Arg565Gln					ST5_ENST00000530991.1_Missense_Mutation_p.R37Q|ST5_ENST00000530438.1_Missense_Mutation_p.R145Q|ST5_ENST00000526099.1_Missense_Mutation_p.R78Q|ST5_ENST00000526757.1_Missense_Mutation_p.R145Q|ST5_ENST00000357665.1_Missense_Mutation_p.R565Q|ST5_ENST00000313726.6_Missense_Mutation_p.R565Q	p.R565Q	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	9	2079	-			565					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.1694G>A	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	31	5.071209	0.93950	0.0	2.33E-4	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593;ENST00000528527;ENST00000531060;ENST00000526057;ENST00000528196	T;T;T;T;T;T;T;T;T;T;T;T	0.10192	2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.13543	0.0328	L	0.38175	1.15	0.58432	D	0.999992	P;P;P	0.47762	0.832;0.824;0.9	B;P;P	0.46975	0.206;0.459;0.533	T	0.00575	-1.1663	10	0.54805	T	0.06	-13.431	12.9013	0.58126	0.0:0.9257:0.0:0.0743	.	78;145;565	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	Q	145;565;565;37;565;78;145;37;175;37;37;54;37;145	ENSP00000435097:R145Q;ENSP00000433528:R565Q;ENSP00000319678:R565Q;ENSP00000432887:R37Q;ENSP00000350294:R565Q;ENSP00000436808:R78Q;ENSP00000436802:R145Q;ENSP00000433588:R37Q;ENSP00000437096:R37Q;ENSP00000431580:R37Q;ENSP00000433858:R54Q;ENSP00000431564:R145Q	ENSP00000319678:R565Q	R	-	2	0	ST5	8693877	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.304000	0.65744	2.640000	0.89533	0.655000	0.94253	CGG		0.617	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		41	80	0	0	0	0.002852	0	41	80				
ZNF226	7769	broad.mit.edu	37	19	44680226	44680226	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:44680226C>T	ENST00000590089.1	+	7	1178	c.811C>T	c.(811-813)Cag>Tag	p.Q271*	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Nonsense_Mutation_p.Q271*|ZNF226_ENST00000337433.5_Nonsense_Mutation_p.Q271*			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	271					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				TGATCTTCATCAGCAGTTACA	0.423																																					Pancreas(115;581 1665 13228 19278 50070)	ENST00000590089.1																			0											c.(811-813)Cag>Tag		zinc finger protein 226							61.0	59.0	60.0					19																	44680226		2006	4208	6214	SO:0001587	stop_gained	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44680226C>T	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.811C>T	19.37:g.44680226C>T	ENSP00000465121:p.Gln271*					ZNF226_ENST00000454662.2_Nonsense_Mutation_p.Q271*|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Nonsense_Mutation_p.Q271*	p.Q271*			Q9NYT6	ZN226_HUMAN			7	1178	+		Prostate(69;0.0352)|all_neural(266;0.202)	271					Q8WWE6|Q96TE6|Q9NS44	Nonsense_Mutation	SNP	ENST00000590089.1	37	c.811C>T	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.729242	0.89390	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	.	.	.	3.95	1.74	0.24563	.	0.728031	0.10785	N	0.634482	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	11.737	0.51771	0.3037:0.6963:0.0:0.0	.	.	.	.	X	271	.	ENSP00000336719:Q271X	Q	+	1	0	ZNF226	49372066	0.001000	0.12720	0.007000	0.13788	0.939000	0.58152	0.785000	0.26830	0.427000	0.26145	0.655000	0.94253	CAG		0.423	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			23	42	0	0	0	0.001882	0	23	42				
LRP5	4041	broad.mit.edu	37	11	68154175	68154175	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:68154175G>A	ENST00000294304.7	+	6	1513	c.1407G>A	c.(1405-1407)gtG>gtA	p.V469V		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	469	Beta-propeller 2.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCACCCCGTGATGGGGTAAG	0.672																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1405-1407)gtG>gtA		low density lipoprotein receptor-related protein 5							22.0	22.0	22.0					11																	68154175		2191	4283	6474	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68154175G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1407G>A	11.37:g.68154175G>A							p.V469V	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			6	1513	+			469			Beta-propeller 2.		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.1407G>A	CCDS8181.1																																																																																				0.672	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		13	27	0	0	0	0.003163	0	13	27				
RIMS2	9699	broad.mit.edu	37	8	105235910	105235910	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:105235910G>T	ENST00000339750.2	+	1	31	c.31G>T	c.(31-33)Gct>Tct	p.A11S	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000436393.2_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1247					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGGTGCCAGCGCTGCGGGGCG	0.687										HNSCC(12;0.0054)																												ENST00000339750.2																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(31-33)Gct>Tct		regulating synaptic membrane exocytosis 2							15.0	16.0	16.0					8																	105235910		875	1991	2866	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105235910G>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000339750.2:c.31G>T	8.37:g.105235910G>T	ENSP00000342051:p.Ala11Ser	HNSCC(12;0.0054)				RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000406091.3_Intron	p.A11S			Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		1	31	+			1247					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000339750.2	37	c.31G>T		.	.	.	.	.	.	.	.	.	.	G	10.53	1.376400	0.24857	.	.	ENSG00000176406	ENST00000523362;ENST00000339750	T;T	0.17213	2.29;2.29	4.69	2.49	0.30216	.	.	.	.	.	T	0.12902	0.0313	.	.	.	0.22835	N	0.998674	.	.	.	.	.	.	T	0.31503	-0.9941	6	0.19147	T	0.46	.	9.6716	0.40015	0.2083:0.0:0.7917:0.0	.	.	.	.	S	11	ENSP00000428478:A11S;ENSP00000342051:A11S	ENSP00000342051:A11S	A	+	1	0	RIMS2	105305086	0.896000	0.30565	0.975000	0.42487	0.279000	0.26890	0.732000	0.26072	0.959000	0.37980	0.591000	0.81541	GCT		0.687	RIMS2-201	KNOWN	basic	protein_coding	protein_coding		NM_001100117		8	16	1	0	1.12685e-05	0.004482	1.37901e-05	8	16				
DYRK1B	9149	broad.mit.edu	37	19	40321360	40321360	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:40321360C>T	ENST00000593685.1	-	3	595	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	DYRK1B_ENST00000430012.2_Missense_Mutation_p.A43T|DYRK1B_ENST00000601972.1_Missense_Mutation_p.A43T|DYRK1B_ENST00000597639.1_Missense_Mutation_p.A43T|DYRK1B_ENST00000323039.5_Missense_Mutation_p.A43T|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A43T			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	43					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CGCAGCGGGGCTGAGGTTGCA	0.642																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(127-129)Gcc>Acc		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							70.0	65.0	67.0					19																	40321360		2203	4300	6503	SO:0001583	missense	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40321360C>T	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.127G>A	19.37:g.40321360C>T	ENSP00000469863:p.Ala43Thr					DYRK1B_ENST00000323039.5_Missense_Mutation_p.A43T|DYRK1B_ENST00000601972.1_Missense_Mutation_p.A43T|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A43T|DYRK1B_ENST00000597639.1_Missense_Mutation_p.A43T|DYRK1B_ENST00000430012.2_Missense_Mutation_p.A43T	p.A43T			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		3	595	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		43					O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	c.127G>A	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268854	0.80469	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.58210	0.35;0.39;0.37	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	M	0.78637	2.42	0.80722	D	1	P;B;P;P	0.45672	0.864;0.2;0.568;0.855	B;B;B;P	0.49953	0.423;0.198;0.196;0.627	T	0.69072	-0.5242	10	0.51188	T	0.08	.	15.3649	0.74513	0.0:1.0:0.0:0.0	.	43;43;43;43	B3KQI0;Q9Y463-2;Q9Y463;Q9Y463-3	.;.;DYR1B_HUMAN;.	T	43	ENSP00000312789:A43T;ENSP00000221803:A43T;ENSP00000403182:A43T	ENSP00000312789:A43T	A	-	1	0	DYRK1B	45013200	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	7.783000	0.85696	2.213000	0.71641	0.563000	0.77884	GCC		0.642	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		30	42	0	0	0	0.007291	0	30	42				
RGS7	6000	broad.mit.edu	37	1	240964780	240964780	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:240964780G>C	ENST00000407727.1	-	16	1387	c.1388C>G	c.(1387-1389)tCt>tGt	p.S463C	RGS7_ENST00000348120.2_Intron|RGS7_ENST00000446183.2_Intron|RGS7_ENST00000366564.1_Intron|RGS7_ENST00000366562.4_Intron|RGS7_ENST00000366565.1_Missense_Mutation_p.S463C|RGS7_ENST00000331110.7_Intron|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000366563.1_Intron			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	463					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTTTCAAAAGATGTTCTGCG	0.333																																						ENST00000366565.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1387-1389)tCt>tGt		regulator of G-protein signaling 7							68.0	64.0	66.0					1																	240964780		2203	4299	6502	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240964780G>C	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1388C>G	1.37:g.240964780G>C	ENSP00000384428:p.Ser463Cys					RGS7_ENST00000331110.7_Intron|RGS7_ENST00000366562.4_Intron|RGS7_ENST00000366563.1_Intron|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000366564.1_Intron|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000446183.2_Intron|RGS7_ENST00000407727.1_Missense_Mutation_p.S463C	p.S463C	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		17	1769	-		all_cancers(173;0.0131)	463					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.1388C>G		.	.	.	.	.	.	.	.	.	.	G	19.51	3.842122	0.71488	.	.	ENSG00000182901	ENST00000366565;ENST00000440928;ENST00000407727	T;T;T	0.37235	1.42;1.21;1.38	5.77	4.86	0.63082	.	0.000000	0.56097	D	0.000034	T	0.41971	0.1182	N	0.19112	0.55	0.80722	D	1	D;D	0.63880	0.993;0.975	D;P	0.63381	0.914;0.832	T	0.33803	-0.9854	10	0.40728	T	0.16	.	14.6306	0.68653	0.0:0.1452:0.8548:0.0	.	463;463	P49802-5;P49802	.;RGS7_HUMAN	C	463;294;463	ENSP00000355523:S463C;ENSP00000404399:S294C;ENSP00000384428:S463C	ENSP00000355523:S463C	S	-	2	0	RGS7	239031403	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.592000	0.74095	1.564000	0.49628	0.655000	0.94253	TCT		0.333	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		10	18	0	0	0	0.008291	0	10	18				
PLCH1	23007	broad.mit.edu	37	3	155203145	155203145	+	Splice_Site	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:155203145C>T	ENST00000340059.7	-	22	2997	c.2998G>A	c.(2998-3000)Gca>Aca	p.A1000T	PLCH1_ENST00000334686.6_Splice_Site_p.A962T|PLCH1_ENST00000414191.1_Splice_Site_p.A962T|PLCH1_ENST00000494598.1_Splice_Site_p.D980N|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000460012.1_Splice_Site_p.A962T|PLCH1_ENST00000447496.2_Splice_Site_p.V1000I	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1000					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGCATCTTACCTAGAGAGTTT	0.423																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.e22+1		phospholipase C, eta 1							71.0	71.0	71.0					3																	155203145		2203	4300	6503	SO:0001630	splice_region_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155203145C>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2998+1G>A	3.37:g.155203145C>T						PLCH1_ENST00000447496.2_Splice_Site_p.V1000_splice|PLCH1_ENST00000414191.1_Splice_Site_p.A962_splice|PLCH1_ENST00000340059.7_Splice_Site_p.A1000_splice|PLCH1_ENST00000494598.1_Splice_Site_p.D980_splice|PLCH1_ENST00000334686.6_Splice_Site_p.A962_splice	p.A962_splice			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		22	3241	-			1000					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Splice_Site	SNP	ENST00000340059.7	37	c.2884_splice	CCDS46939.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	20.1|20.1|20.1	3.935124|3.935124|3.935124	0.73442|0.73442|0.73442	.|.|.	.|.|.	ENSG00000114805|ENSG00000114805|ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191|ENST00000494598|ENST00000447496	T;T;T;T|T|T	0.22134|0.20463|0.29917	1.97;1.97;1.97;1.97|2.07|1.55	5.88|5.88|5.88	5.88|5.88|5.88	0.94601|0.94601|0.94601	.|.|.	1.617990|.|.	0.02939|.|.	N|.|.	0.140214|.|.	T|T|T	0.48314|0.48314|0.48314	0.1493|0.1493|0.1493	L|L|L	0.44542|0.44542|0.44542	1.39|1.39|1.39	0.54753|0.54753|0.54753	D|D|D	0.999988|0.999988|0.999988	B;B|.|P	0.32245|.|0.47910	0.277;0.361|.|0.902	B;B|.|P	0.24394|.|0.61722	0.053;0.036|.|0.893	T|T|T	0.08889|0.08889|0.08889	-1.0700|-1.0700|-1.0700	9|6|8	.|.|.	.|.|.	.|.|.	.|.|.	20.2228|20.2228|20.2228	0.98330|0.98330|0.98330	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	962;1000|.|1000	Q4KWH8-2;Q4KWH8|.|Q4KWH8-3	.;PLCH1_HUMAN|.|.	T|N|I	962;1000;962;962|980|1000	ENSP00000417502:A962T;ENSP00000345988:A1000T;ENSP00000335469:A962T;ENSP00000412977:A962T|ENSP00000419100:D980N|ENSP00000402759:V1000I	.|.|.	A|D|V	-|-|-	1|1|1	0|0|0	PLCH1|PLCH1|PLCH1	156685839|156685839|156685839	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.983000|0.983000|0.983000	0.44433|0.44433|0.44433	0.772000|0.772000|0.772000	0.43724|0.43724|0.43724	4.009000|4.009000|4.009000	0.57110|0.57110|0.57110	2.789000|2.789000|2.789000	0.95967|0.95967|0.95967	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCA|GAC|GTA		0.423	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	Missense_Mutation	13	50	0	0	0	0.001368	0	13	50				
FCAR	2204	broad.mit.edu	37	19	55396680	55396680	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:55396680C>A	ENST00000355524.3	+	3	114	c.104C>A	c.(103-105)tCg>tAg	p.S35*	FCAR_ENST00000391724.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000391725.3_Nonsense_Mutation_p.S35*|FCAR_ENST00000359272.4_Nonsense_Mutation_p.S23*|FCAR_ENST00000391723.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000391726.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000345937.4_Nonsense_Mutation_p.S35*|FCAR_ENST00000469767.1_Nonsense_Mutation_p.S35*|FCAR_ENST00000482092.2_3'UTR	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	35					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.S35L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TCTGCCAAATCGAGTCCTGTG	0.498																																						ENST00000355524.3																			2	Substitution - Missense(2)	p.S35L(2)	large_intestine(2)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24						c.(103-105)tCg>tAg		Fc fragment of IgA, receptor for							67.0	65.0	66.0					19																	55396680		2203	4300	6503	SO:0001587	stop_gained	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55396680C>A	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.104C>A	19.37:g.55396680C>A	ENSP00000347714:p.Ser35*					FCAR_ENST00000359272.4_Nonsense_Mutation_p.S23*|FCAR_ENST00000469767.1_Nonsense_Mutation_p.S35*|FCAR_ENST00000391726.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000391723.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000391724.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000391725.3_Nonsense_Mutation_p.S35*|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000345937.4_Nonsense_Mutation_p.S35*|FCAR_ENST00000353758.4_Intron	p.S35*	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	3	114	+			35					Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Nonsense_Mutation	SNP	ENST00000355524.3	37	c.104C>A	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054995	0.36277	.	.	ENSG00000186431	ENST00000433231;ENST00000391726;ENST00000355524;ENST00000391725;ENST00000345937;ENST00000359272;ENST00000391723;ENST00000391724	.	.	.	3.19	2.1	0.27182	.	0.788741	0.10353	N	0.684825	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	7.3977	0.26946	0.2597:0.7403:0.0:0.0	.	.	.	.	X	35;23;35;35;35;23;23;23	.	ENSP00000338257:S35X	S	+	2	0	FCAR	60088492	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.083000	0.30815	0.852000	0.35287	0.563000	0.77884	TCG		0.498	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		22	34	1	0	3.62473e-10	0.001882	4.78738e-10	22	34				
DOCK3	1795	broad.mit.edu	37	3	51400017	51400017	+	Silent	SNP	G	G	A	rs369636952		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:51400017G>A	ENST00000266037.9	+	49	5228	c.5205G>A	c.(5203-5205)tcG>tcA	p.S1735S		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1735	Ser-rich.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTCTGTCCTCGTCCCAGGCAA	0.557																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(5203-5205)tcG>tcA		dedicator of cytokinesis 3		G		0,4214		0,0,2107	100.0	108.0	105.0		5205	2.1	1.0	3		105	1,8443		0,1,4221	no	coding-synonymous	DOCK3	NM_004947.4		0,1,6328	AA,AG,GG		0.0118,0.0,0.0079		1735/2031	51400017	1,12657	2107	4222	6329	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51400017G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5205G>A	3.37:g.51400017G>A							p.S1735S	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	49	5228	+			1735			Ser-rich.		O15017	Silent	SNP	ENST00000266037.9	37	c.5205G>A	CCDS46835.1																																																																																				0.557	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		32	18	0	0	0	0.002096	0	32	18				
SPATA31A6	389730	broad.mit.edu	37	9	43626706	43626706	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:43626706T>A	ENST00000332857.6	-	4	2009	c.1981A>T	c.(1981-1983)Agg>Tgg	p.R661W	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	661					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CACAGGTCCCTCTCTAGCTGG	0.562																																						ENST00000332857.6																			0											c.(1981-1983)Agg>Tgg		SPATA31 subfamily A, member 6							2.0	3.0	2.0					9																	43626706		449	1278	1727	SO:0001583	missense	389730							g.chr9:43626706T>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1981A>T	9.37:g.43626706T>A	ENSP00000329825:p.Arg661Trp						p.R661W	NM_001145196.1	NP_001138668.1					4	2009	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.1981A>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.234680	0.39498	.	.	ENSG00000185775	ENST00000332857	T	0.07567	3.18	2.44	1.35	0.21983	.	1.338960	0.05417	N	0.543517	T	0.15739	0.0379	L	0.39898	1.24	0.09310	N	1	P	0.39071	0.658	P	0.52758	0.708	T	0.37337	-0.9710	10	0.66056	D	0.02	0.0615	5.5469	0.17069	0.0:0.0:0.3789:0.6211	.	661	Q5VVP1	F75A6_HUMAN	W	661	ENSP00000329825:R661W	ENSP00000329825:R661W	R	-	1	2	FAM75A6	43566702	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.405000	0.21015	0.437000	0.26423	0.315000	0.21342	AGG		0.562	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		71	13	0	0	0	0.003610	0	71	13				
HRH4	59340	broad.mit.edu	37	18	22056718	22056718	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr18:22056718A>T	ENST00000256906.4	+	3	465	c.365A>T	c.(364-366)tAt>tTt	p.Y122F	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	122					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	TAGGTGTCTTATAGAACTCAA	0.378																																						ENST00000256906.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(364-366)tAt>tTt		histamine receptor H4	Clozapine(DB00363)						131.0	127.0	128.0					18																	22056718		2203	4300	6503	SO:0001583	missense	59340					integral to membrane|plasma membrane	histamine receptor activity	g.chr18:22056718A>T	AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"""GPCR / Class A : Histamine receptors"""	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.365A>T	18.37:g.22056718A>T	ENSP00000256906:p.Tyr122Phe					HRH4_ENST00000426880.2_Intron	p.Y122F	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN			3	465	+	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		122					B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	ENST00000256906.4	37	c.365A>T	CCDS11887.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.902374	0.92035	.	.	ENSG00000134489	ENST00000256906	T	0.51574	0.7	5.79	5.79	0.91817	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.69223	0.3087	.	.	.	0.80722	D	1	D	0.65815	0.995	D	0.70016	0.967	T	0.73266	-0.4037	9	0.72032	D	0.01	-19.3922	15.3188	0.74105	1.0:0.0:0.0:0.0	.	122	Q9H3N8	HRH4_HUMAN	F	122	ENSP00000256906:Y122F	ENSP00000256906:Y122F	Y	+	2	0	HRH4	20310716	1.000000	0.71417	0.967000	0.41034	0.993000	0.82548	8.175000	0.89684	2.212000	0.71576	0.533000	0.62120	TAT		0.378	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254904.1			7	42	0	0	0	0.001984	0	7	42				
GIN1	54826	broad.mit.edu	37	5	102423676	102423676	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:102423676C>A	ENST00000399004.2	-	8	1589	c.1495G>T	c.(1495-1497)Gat>Tat	p.D499Y	GIN1_ENST00000508629.1_3'UTR	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	499					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		GAACTATGATCGTCTATCAAT	0.318																																						ENST00000399004.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1495-1497)Gat>Tat		gypsy retrotransposon integrase 1							87.0	82.0	83.0					5																	102423676		1822	4075	5897	SO:0001583	missense	54826				DNA integration		DNA binding	g.chr5:102423676C>A	BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.1495G>T	5.37:g.102423676C>A	ENSP00000381970:p.Asp499Tyr					GIN1_ENST00000508629.1_3'UTR	p.D499Y	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)	8	1589	-		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)	499					B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	ENST00000399004.2	37	c.1495G>T	CCDS43349.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640947	0.47153	.	.	ENSG00000145723	ENST00000399004	T	0.29655	1.56	5.51	4.64	0.57946	.	0.000000	0.37483	U	0.002063	T	0.22936	0.0554	L	0.27053	0.805	0.80722	D	1	B	0.15930	0.015	B	0.17979	0.02	T	0.04767	-1.0928	10	0.87932	D	0	-15.6993	10.9501	0.47323	0.1456:0.7143:0.1401:0.0	.	499	Q9NXP7	GIN1_HUMAN	Y	499	ENSP00000381970:D499Y	ENSP00000381970:D499Y	D	-	1	0	GIN1	102451575	0.973000	0.33851	0.997000	0.53966	0.498000	0.33706	2.148000	0.42235	1.440000	0.47531	-0.169000	0.13324	GAT		0.318	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676		33	53	1	0	3.80469e-20	0.001786	5.76469e-20	33	53				
HTR2A	3356	broad.mit.edu	37	13	47409480	47409480	+	Missense_Mutation	SNP	G	G	A	rs192924120		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr13:47409480G>A	ENST00000378688.4	-	3	1039	c.908C>T	c.(907-909)cCa>cTa	p.P303L	HTR2A_ENST00000542664.1_Missense_Mutation_p.P303L|HTR2A_ENST00000543956.1_Missense_Mutation_p.P219L			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	303					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.P303Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GTAGGACCCTGGCTCCCTATG	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		20344	0.0		0.001	False		,,,				2504	0.0					ENST00000378688.4																			1	Substitution - Missense(1)	p.P303Q(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(907-909)cCa>cTa		5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						106.0	88.0	94.0					13																	47409480		2203	4300	6503	SO:0001583	missense	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47409480G>A	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.908C>T	13.37:g.47409480G>A	ENSP00000367959:p.Pro303Leu					HTR2A_ENST00000542664.1_Missense_Mutation_p.P303L|HTR2A_ENST00000543956.1_Missense_Mutation_p.P219L	p.P303L			P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	3	1039	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	303					B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	c.908C>T	CCDS9405.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.486	1.099334	0.20552	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.34667	1.35;1.35;1.35	5.87	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.433239	0.25666	N	0.029110	T	0.19127	0.0459	N	0.11756	0.17	0.27931	N	0.937877	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.07578	-1.0765	10	0.23302	T	0.38	.	9.2039	0.37278	0.2018:0.0:0.7982:0.0	.	219;303	F5GWE8;P28223	.;5HT2A_HUMAN	L	303;219;303	ENSP00000367959:P303L;ENSP00000441861:P219L;ENSP00000437737:P303L	ENSP00000367959:P303L	P	-	2	0	HTR2A	46307481	0.151000	0.22747	0.942000	0.38095	0.911000	0.54048	1.803000	0.38863	2.941000	0.99782	0.655000	0.94253	CCA		0.517	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		21	29	0	0	0	0.002299	0	21	29				
NAPRT	93100	broad.mit.edu	37	8	144658323	144658323	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:144658323C>A	ENST00000449291.2	-	8	1326	c.1032G>T	c.(1030-1032)gtG>gtT	p.V344V	RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000460623.1_5'UTR|NAPRT1_ENST00000426292.3_Silent_p.V344V|NAPRT1_ENST00000276844.7_Silent_p.V344V|NAPRT1_ENST00000435154.3_Silent_p.V344V																endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCAGCCAGGGCACCTGGAACC	0.667																																						ENST00000449291.2																			0				endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(1030-1032)gtG>gtT		nicotinate phosphoribosyltransferase domain containing 1							30.0	30.0	30.0					8																	144658323		2201	4298	6499	SO:0001819	synonymous_variant	93100				nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr8:144658323C>A																												ENST00000449291.2:c.1032G>T	8.37:g.144658323C>A						NAPRT1_ENST00000426292.3_Silent_p.V344V|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000435154.3_Silent_p.V344V|NAPRT1_ENST00000460623.1_5'UTR|NAPRT1_ENST00000276844.7_Silent_p.V344V	p.V344V			Q6XQN6	PNCB_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)		8	1326	-	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		344						Silent	SNP	ENST00000449291.2	37	c.1032G>T	CCDS6403.2																																																																																				0.667	NAPRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346708.3			20	34	1	0	7.41877e-09	0.001882	9.61693e-09	20	34				
PLEC	5339	broad.mit.edu	37	8	145016653	145016653	+	Intron	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:145016653G>T	ENST00000322810.4	-	2	693				PLEC_ENST00000354958.2_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000398774.2_Intron|MIR661_ENST00000384842.1_RNA|PLEC_ENST00000345136.3_5'Flank|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000357649.2_Missense_Mutation_p.P11T|PLEC_ENST00000354589.3_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin						apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACCTCCCTCGGCGAGGCAAAG	0.756																																						ENST00000357649.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(31-33)Ccg>Acg		plectin							5.0	7.0	6.0					8																	145016653		1688	3848	5536	SO:0001627	intron_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145016653G>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.524-3793C>A	8.37:g.145016653G>T						PLEC_ENST00000356346.3_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000354589.3_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000322810.4_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000398774.2_Intron	p.P11T	NM_201383.1	NP_958785.1	Q15149	PLEC_HUMAN			1	39	-			0			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.31C>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	5.687	0.311364	0.10789	.	.	ENSG00000178209	ENST00000357649	T	0.80480	-1.38	3.67	2.69	0.31865	.	.	.	.	.	T	0.65923	0.2738	.	.	.	0.23978	N	0.996288	B	0.09022	0.002	B	0.09377	0.004	T	0.51694	-0.8673	8	0.26408	T	0.33	.	8.1341	0.31043	0.0:0.25:0.75:0.0	.	11	Q15149-6	.	T	11	ENSP00000350277:P11T	ENSP00000350277:P11T	P	-	1	0	PLEC	145088641	0.002000	0.14202	0.247000	0.24249	0.086000	0.17979	0.879000	0.28146	1.588000	0.49971	0.561000	0.74099	CCG		0.756	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		23	13	1	0	4.54149e-19	0.002299	6.82197e-19	23	13				
ACY3	91703	broad.mit.edu	37	11	67410230	67410230	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:67410230G>T	ENST00000255082.3	-	8	1095	c.925C>A	c.(925-927)Ccc>Acc	p.P309T	ACY3_ENST00000529256.1_Missense_Mutation_p.P188T	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	309	Shielding domain. {ECO:0000250}.				viral process (GO:0016032)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	GTCAGCGCGGGCATGGCAGGC	0.587																																					GBM(56;346 1011 27014 29495 46841)	ENST00000255082.3																			0				endometrium(1)|lung(5)|prostate(2)	8						c.(925-927)Ccc>Acc		aspartoacylase (aminocyclase) 3	L-Aspartic Acid(DB00128)						114.0	102.0	106.0					11																	67410230		2200	4294	6494	SO:0001583	missense	91703				interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding	g.chr11:67410230G>T	BC008689	CCDS8175.1	11q13.2	2014-08-08			ENSG00000132744	ENSG00000132744			24104	protein-coding gene	gene with protein product		614413				14656720	Standard	NM_080658		Approved	HCBP1, MGC9740, ACY-3	uc001omq.3	Q96HD9	OTTHUMG00000167283	ENST00000255082.3:c.925C>A	11.37:g.67410230G>T	ENSP00000255082:p.Pro309Thr					ACY3_ENST00000529256.1_Missense_Mutation_p.P188T	p.P309T	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN			8	1095	-			309						Missense_Mutation	SNP	ENST00000255082.3	37	c.925C>A	CCDS8175.1	.	.	.	.	.	.	.	.	.	.	G	5.417	0.262124	0.10239	.	.	ENSG00000132744	ENST00000255082;ENST00000529256	D;D	0.96459	-3.94;-4.02	3.86	3.86	0.44501	.	0.780493	0.11776	N	0.530594	D	0.89976	0.6871	N	0.08118	0	0.28188	N	0.927869	P	0.48911	0.917	B	0.38655	0.278	D	0.84511	0.0622	10	0.40728	T	0.16	-12.108	13.5369	0.61652	0.0:0.0:1.0:0.0	.	309	Q96HD9	ACY3_HUMAN	T	309;188	ENSP00000255082:P309T;ENSP00000434270:P188T	ENSP00000255082:P309T	P	-	1	0	ACY3	67166806	1.000000	0.71417	0.462000	0.27118	0.010000	0.07245	3.627000	0.54252	2.107000	0.64212	0.561000	0.74099	CCC		0.587	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394002.1	NM_080658		45	98	1	0	4.78724e-31	0.003610	7.72136e-31	45	98				
KDM6A	7403	broad.mit.edu	37	X	44938390	44938390	+	Splice_Site	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:44938390G>C	ENST00000377967.4	+	20	2979		c.e20-1		KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TATTCATGAAGACCTGGGACT	0.328			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.e20-1		lysine (K)-specific demethylase 6A							53.0	46.0	48.0					X																	44938390		2203	4300	6503	SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44938390G>C	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2939-1G>C	X.37:g.44938390G>C						KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site		NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			20	2979	+								Q52LL9|Q5JVQ7	Splice_Site	SNP	ENST00000377967.4	37		CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125631	0.77436	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000414389;ENST00000433797	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4214	0.90591	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44823334	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.476000	0.97823	2.290000	0.77057	0.594000	0.82650	.		0.328	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Intron	11	1	0	0	0	0.008291	0	11	1				
PRRC2C	23215	broad.mit.edu	37	1	171509618	171509618	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:171509618G>T	ENST00000338920.4	+	16	3244	c.3007G>T	c.(3007-3009)Gaa>Taa	p.E1003*	PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.E1005*|PRRC2C_ENST00000367742.3_Nonsense_Mutation_p.E1005*|PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.E1003*	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1003					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TAACAGAAGGGAAGAAGTTAA	0.413																																						ENST00000367742.3																			0											c.(3013-3015)Gaa>Taa		proline-rich coiled-coil 2C							26.0	26.0	26.0					1																	171509618		2203	4300	6503	SO:0001587	stop_gained	23215						protein C-terminus binding	g.chr1:171509618G>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3007G>T	1.37:g.171509618G>T	ENSP00000343629:p.Glu1003*					PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.E1003*|PRRC2C_ENST00000338920.4_Nonsense_Mutation_p.E1003*|PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.E1005*	p.E1005*			Q9Y520	PRC2C_HUMAN			16	3255	+			1003					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Nonsense_Mutation	SNP	ENST00000338920.4	37	c.3013G>T	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	43	10.038465	0.99323	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	.	.	.	5.98	5.98	0.97165	.	0.139716	0.32231	N	0.006393	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	.	.	.	X	1005;1004;1003;1005;1003;760;762	.	ENSP00000343629:E1003X	E	+	1	0	PRRC2C	169776242	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.434000	0.97515	2.835000	0.97688	0.650000	0.86243	GAA		0.413	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		17	16	1	0	1.02788e-11	0.004990	1.38369e-11	17	16				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	AGAP10_ENST00000355232.3_Splice_Site_p.H157R|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228R			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	4	20	0	0	0	0.001168	0	4	20				
DNAH5	1767	broad.mit.edu	37	5	13719184	13719184	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:13719184G>T	ENST00000265104.4	-	72	12410	c.12306C>A	c.(12304-12306)tgC>tgA	p.C4102*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4102	AAA 6. {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)					GTCCCAGATGGCAGTTCTGCA	0.418									Kartagener syndrome																													ENST00000265104.4																			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.(12304-12306)tgC>tgA		dynein, axonemal, heavy chain 5							83.0	81.0	81.0					5																	13719184		2203	4300	6503	SO:0001587	stop_gained	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.chr5:13719184G>T	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.12306C>A	5.37:g.13719184G>T	ENSP00000265104:p.Cys4102*						p.C4102*	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			72	12410	-	Lung NSC(4;0.00476)		4102			AAA 6 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	c.12306C>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	53	20.623683	0.99932	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.59	3.83	0.44106	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1027	0.53794	0.1384:0.0:0.8616:0.0	.	.	.	.	X	4102	.	ENSP00000265104:C4102X	C	-	3	2	DNAH5	13772184	1.000000	0.71417	1.000000	0.80357	0.270000	0.26580	1.505000	0.35736	0.733000	0.32492	-0.145000	0.13849	TGC		0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		22	29	1	0	1.10513e-12	0.002299	1.51685e-12	22	29				
PEAK1	79834	broad.mit.edu	37	15	77474169	77474169	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:77474169C>T	ENST00000560626.2	-	4	575	c.100G>A	c.(100-102)Gag>Aag	p.E34K	PEAK1_ENST00000312493.4_Missense_Mutation_p.E34K|PEAK1_ENST00000558305.1_Missense_Mutation_p.E34K			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	34					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGTGCCTTCTCAGGGTCTGGG	0.468																																						ENST00000560626.2																			0											c.(100-102)Gag>Aag		pseudopodium-enriched atypical kinase 1							150.0	144.0	146.0					15																	77474169		1892	4100	5992	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77474169C>T		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.100G>A	15.37:g.77474169C>T	ENSP00000452796:p.Glu34Lys					PEAK1_ENST00000558305.1_Missense_Mutation_p.E34K|PEAK1_ENST00000312493.4_Missense_Mutation_p.E34K	p.E34K			Q9H792	PEAK1_HUMAN			4	575	-			34					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.100G>A	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311026	0.60414	.	.	ENSG00000173517	ENST00000312493	T	0.69175	-0.38	6.07	6.07	0.98685	.	0.207024	0.18670	U	0.134468	T	0.55878	0.1948	N	0.22421	0.69	0.39573	D	0.969307	P	0.41597	0.756	B	0.41236	0.351	T	0.58463	-0.7632	10	0.42905	T	0.14	-9.4514	13.793	0.63152	0.0:0.9304:0.0:0.0696	.	34	Q9H792	PEAK1_HUMAN	K	34	ENSP00000309230:E34K	ENSP00000309230:E34K	E	-	1	0	AC087465.1	75261224	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.697000	0.68295	2.890000	0.99128	0.650000	0.86243	GAG		0.468	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			8	182	0	0	0	0.008291	0	8	182				
FAM135B	51059	broad.mit.edu	37	8	139151251	139151251	+	Silent	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:139151251G>C	ENST00000395297.1	-	18	4049	c.3879C>G	c.(3877-3879)ctC>ctG	p.L1293L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1293										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTAGTTGGTAGAGGAAACATT	0.448										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(3877-3879)ctC>ctG		family with sequence similarity 135, member B							129.0	123.0	125.0					8																	139151251		1878	4120	5998	SO:0001819	synonymous_variant	51059							g.chr8:139151251G>C	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3879C>G	8.37:g.139151251G>C		HNSCC(54;0.14)					p.L1293L	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		18	4049	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1293					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.3879C>G	CCDS6375.2																																																																																				0.448	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		12	127	0	0	0	0.001368	0	12	127				
KIAA1217	56243	broad.mit.edu	37	10	24727394	24727394	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:24727394A>G	ENST00000376454.3	+	5	862	c.832A>G	c.(832-834)Aat>Gat	p.N278D	KIAA1217_ENST00000430453.2_Missense_Mutation_p.N199D|KIAA1217_ENST00000376462.1_Missense_Mutation_p.N198D|KIAA1217_ENST00000458595.1_Missense_Mutation_p.N278D|KIAA1217_ENST00000376452.3_Missense_Mutation_p.N278D	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	278					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAAAACTATGAATGGAGACAT	0.403																																						ENST00000376454.3																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(832-834)Aat>Gat		KIAA1217							200.0	171.0	181.0					10																	24727394		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24727394A>G	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.832A>G	10.37:g.24727394A>G	ENSP00000365637:p.Asn278Asp					KIAA1217_ENST00000376452.3_Missense_Mutation_p.N278D|KIAA1217_ENST00000458595.1_Missense_Mutation_p.N278D|KIAA1217_ENST00000376462.1_Missense_Mutation_p.N198D|KIAA1217_ENST00000430453.2_Missense_Mutation_p.N199D	p.N278D	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			5	862	+			278					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.832A>G	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.823610	0.71143	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453	T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11	5.46	4.33	0.51752	.	0.089928	0.85682	N	0.000000	T	0.59891	0.2227	M	0.66297	2.02	0.45607	D	0.998549	D;D;D;B	0.89917	0.999;1.0;0.998;0.197	D;D;D;B	0.83275	0.978;0.996;0.986;0.062	T	0.59182	-0.7502	10	0.48119	T	0.1	.	10.999	0.47593	0.927:0.0:0.073:0.0	.	278;278;278;278	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	D	198;278;278;278;278;128;199	ENSP00000365645:N198D;ENSP00000365639:N278D;ENSP00000392625:N278D;ENSP00000365637:N278D;ENSP00000365635:N278D;ENSP00000404798:N128D;ENSP00000389680:N199D	ENSP00000365635:N278D	N	+	1	0	KIAA1217	24767400	1.000000	0.71417	0.913000	0.36048	0.723000	0.41478	6.868000	0.75516	0.927000	0.37143	0.467000	0.42956	AAT		0.403	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		43	56	0	0	0	0.008740	0	43	56				
PPAN	56342	broad.mit.edu	37	19	10221511	10221511	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:10221511C>T	ENST00000253107.7	+	11	1276	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	P2RY11_ENST00000321826.4_5'Flank|PPAN_ENST00000556468.1_Silent_p.F390F|PPAN-P2RY11_ENST00000428358.1_Silent_p.F390F|SNORD105B_ENST00000458770.1_RNA|PPAN-P2RY11_ENST00000393796.4_Silent_p.F390F|PPAN_ENST00000393793.1_Silent_p.F337F	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	390					RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TCGAGTATTTCTGCCAGGCGG	0.607																																						ENST00000428358.1																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(1168-1170)ttC>ttT									105.0	116.0	113.0					19																	10221511		2203	4300	6503	SO:0001819	synonymous_variant	692312				RNA splicing	nucleolus	protein binding	g.chr19:10221511C>T	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.1170C>T	19.37:g.10221511C>T						PPAN_ENST00000253107.7_Silent_p.F390F|PPAN_ENST00000556468.1_Silent_p.F390F|PPAN-P2RY11_ENST00000393796.4_Silent_p.F390F|PPAN_ENST00000393793.1_Silent_p.F337F	p.F390F	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		11	1342	+			390					C9J3F9|Q9BW97|Q9H170	Silent	SNP	ENST00000253107.7	37	c.1170C>T	CCDS12225.1																																																																																				0.607	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230		67	140	0	0	0	0.003610	0	67	140				
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:155887393T>G	ENST00000368321.3	-	11	1360	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q446P	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1336-1338)cAg>cCg		KIAA0907							14.0	18.0	16.0					1																	155887393		2157	4273	6430	SO:0001583	missense	22889							g.chr1:155887393T>G	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1337A>C	1.37:g.155887393T>G	ENSP00000357304:p.Gln446Pro					KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P	p.Q446P			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1362	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		446			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1337A>C	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.413076	0.25465	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.32753	1.44;1.44	5.76	0.471	0.16752	.	0.977681	0.08344	N	0.960281	T	0.04003	0.0112	N	0.03608	-0.345	0.29419	N	0.860713	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43442	-0.9391	10	0.22706	T	0.39	.	8.2981	0.31997	0.1873:0.0:0.4136:0.3991	.	446;446	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	P	446	ENSP00000357304:Q446P;ENSP00000357303:Q446P	ENSP00000357303:Q446P	Q	-	2	0	KIAA0907	154154017	0.988000	0.35896	0.899000	0.35326	0.963000	0.63663	-0.615000	0.05597	-0.064000	0.13043	0.533000	0.62120	CAG		0.567	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		9	35	0	0	0	0.001855	0	9	35				
RYR2	6262	broad.mit.edu	37	1	237865319	237865319	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:237865319T>A	ENST00000366574.2	+	66	9726	c.9409T>A	c.(9409-9411)Tta>Ata	p.L3137I	RYR2_ENST00000360064.6_Missense_Mutation_p.L3135I|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.L3121I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3137					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTGACTAGCTTATATGCTTT	0.328																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(9409-9411)Tta>Ata		ryanodine receptor 2 (cardiac)							133.0	120.0	124.0					1																	237865319		1814	4078	5892	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237865319T>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9409T>A	1.37:g.237865319T>A	ENSP00000355533:p.Leu3137Ile					RYR2_ENST00000542537.1_Missense_Mutation_p.L3121I|RYR2_ENST00000360064.6_Missense_Mutation_p.L3135I	p.L3137I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		66	9726	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3137					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.9409T>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.408729	0.62399	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288;ENST00000540213	T;T;T	0.71698	-0.59;1.46;-0.59	4.83	4.83	0.62350	.	0.000000	0.46758	U	0.000270	T	0.46541	0.1398	N	0.11427	0.14	0.80722	D	1	B	0.31599	0.33	B	0.22601	0.04	T	0.47947	-0.9077	10	0.33940	T	0.23	.	9.2856	0.37755	0.0:0.0819:0.0:0.9181	.	3137	Q92736	RYR2_HUMAN	I	3137;3135;3121;92;132	ENSP00000355533:L3137I;ENSP00000353174:L3135I;ENSP00000443798:L3121I	ENSP00000353174:L3135I	L	+	1	2	RYR2	235931942	0.728000	0.28080	1.000000	0.80357	0.984000	0.73092	1.020000	0.30027	1.920000	0.55613	0.467000	0.42956	TTA		0.328	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		32	16	0	0	0	0.004289	0	32	16				
CDK8	1024	broad.mit.edu	37	13	26911771	26911771	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr13:26911771G>C	ENST00000381527.3	+	2	699	c.196G>C	c.(196-198)Gaa>Caa	p.E66Q	CDK8_ENST00000536792.1_Missense_Mutation_p.E66Q	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	66	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		GGCATGTAGAGAAATAGCAGT	0.294																																						ENST00000381527.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25						c.(196-198)Gaa>Caa		cyclin-dependent kinase 8							90.0	103.0	99.0					13																	26911771		2203	4290	6493	SO:0001583	missense	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26911771G>C	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.196G>C	13.37:g.26911771G>C	ENSP00000370938:p.Glu66Gln					CDK8_ENST00000536792.1_Missense_Mutation_p.E66Q	p.E66Q	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	2	699	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	66			Protein kinase.		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	c.196G>C	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809904	0.90707	.	.	ENSG00000132964	ENST00000381527;ENST00000536792	D;D	0.84873	-1.91;-1.91	5.74	5.74	0.90152	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94722	0.8297	H	0.94771	3.58	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.69142	0.936;0.962	D	0.95594	0.8657	10	0.87932	D	0	-18.1362	19.5297	0.95223	0.0:0.0:1.0:0.0	.	66;66	P49336-2;P49336	.;CDK8_HUMAN	Q	66	ENSP00000370938:E66Q;ENSP00000437696:E66Q	ENSP00000370938:E66Q	E	+	1	0	CDK8	25809771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.868000	0.92320	2.712000	0.92718	0.563000	0.77884	GAA		0.294	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			30	51	0	0	0	0.003755	0	30	51				
HCRTR2	3062	broad.mit.edu	37	6	55113511	55113511	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:55113511G>T	ENST00000370862.3	+	2	634	c.298G>T	c.(298-300)Gat>Tat	p.D100Y		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	100					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTCTCTGGCTGATGTGCTCGT	0.453																																						ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(298-300)Gat>Tat		hypocretin (orexin) receptor 2							237.0	212.0	220.0					6																	55113511		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55113511G>T	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.298G>T	6.37:g.55113511G>T	ENSP00000359899:p.Asp100Tyr						p.D100Y	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	634	+	Lung NSC(77;0.107)|Renal(3;0.122)		100					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.298G>T	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357506	0.82243	.	.	ENSG00000137252	ENST00000370862	D	0.88896	-2.44	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96710	0.8926	H	0.98048	4.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98393	1.0564	10	0.87932	D	0	.	18.2553	0.90017	0.0:0.0:1.0:0.0	.	100;100	Q548Y0;O43614	.;OX2R_HUMAN	Y	100	ENSP00000359899:D100Y	ENSP00000359899:D100Y	D	+	1	0	HCRTR2	55221470	1.000000	0.71417	0.869000	0.34112	0.887000	0.51463	9.420000	0.97426	2.373000	0.80994	0.650000	0.86243	GAT		0.453	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			56	102	1	0	6.4308e-24	0.003610	9.95921e-24	56	102				
C12orf43	64897	broad.mit.edu	37	12	121438953	121438953	+	IGR	SNP	C	C	A	rs193922591		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:121438953C>A	ENST00000288757.3	-	0	1920				HNF1A_ENST00000257555.6_Silent_p.I618I|HNF1A_ENST00000544413.1_Silent_p.I625I|HNF1A_ENST00000541395.1_Silent_p.I649I|RP11-216P16.2_ENST00000606238.1_RNA	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43											cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACAGCGTCATCGAGACCTTCA	0.617																																						ENST00000257555.6																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	GRCh37	CM993818	HNF1A	M		c.(1852-1854)atC>atA		HNF1 homeobox A							102.0	77.0	85.0					12																	121438953		2203	4300	6503	SO:0001628	intergenic_variant	6927	Hepatic Adenoma, Familial Clustering of			glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121438953C>A	AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150		12.37:g.121438953C>A						RP11-216P16.2_ENST00000606238.1_RNA|HNF1A_ENST00000544413.1_Silent_p.I625I|HNF1A_ENST00000541395.1_Silent_p.I649I	p.I618I			P20823	HNF1A_HUMAN			10	2080	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		618		I -> M (in MODY3).			Q53HF0|Q9H9Z7	Silent	SNP	ENST00000288757.3	37	c.1854C>A	CCDS9210.1																																																																																				0.617	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022895		10	5	1	0	1.58986e-06	0.008291	1.98026e-06	10	5				
APC	324	broad.mit.edu	37	5	112151205	112151205	+	Missense_Mutation	SNP	G	G	A	rs149154604		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:112151205G>A	ENST00000457016.1	+	9	1228	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	APC_ENST00000508376.2_Missense_Mutation_p.R283Q|APC_ENST00000257430.4_Missense_Mutation_p.R283Q			P25054	APC_HUMAN	adenomatous polyposis coli	283	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCAACTACACGAATGGACCAT	0.383		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		0				NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(847-849)cGa>cAa		adenomatous polyposis coli							113.0	102.0	106.0					5																	112151205		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112151205G>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.848G>A	5.37:g.112151205G>A	ENSP00000413133:p.Arg283Gln	TSP Lung(16;0.13)				APC_ENST00000508376.2_Missense_Mutation_p.R283Q|APC_ENST00000257430.4_Missense_Mutation_p.R283Q	p.R283Q			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	9	1228	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	283			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.848G>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.074058	0.55646	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.93307	-2.58;-3.2;-2.58;-2.58;-2.76	5.11	4.22	0.49857	.	0.134048	0.50627	D	0.000103	D	0.87803	0.6269	L	0.28192	0.835	0.43199	D	0.995046	B;B	0.20052	0.041;0.024	B;B	0.08055	0.003;0.003	D	0.84106	0.0398	10	0.35671	T	0.21	-10.044	14.4736	0.67533	0.0747:0.0:0.9253:0.0	.	285;283	Q4LE70;P25054	.;APC_HUMAN	Q	283;265;283;283;283	ENSP00000413133:R283Q;ENSP00000423224:R265Q;ENSP00000257430:R283Q;ENSP00000427089:R283Q;ENSP00000423828:R283Q	ENSP00000257430:R283Q	R	+	2	0	APC	112179104	1.000000	0.71417	0.975000	0.42487	0.981000	0.71138	5.844000	0.69430	2.520000	0.84964	0.650000	0.86243	CGA		0.383	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		17	31	0	0	0	0.008871	0	17	31				
ZNF233	353355	broad.mit.edu	37	19	44778658	44778658	+	Silent	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:44778658G>T	ENST00000391958.2	+	5	1972	c.1845G>T	c.(1843-1845)acG>acT	p.T615T	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Silent_p.T597T|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	615					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GGATCCACACGGGAGAGAAAC	0.438																																						ENST00000391958.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20						c.(1843-1845)acG>acT		zinc finger protein 233							95.0	93.0	94.0					19																	44778658		2203	4300	6503	SO:0001819	synonymous_variant	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44778658G>T	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1845G>T	19.37:g.44778658G>T						ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Silent_p.T597T|ZNF235_ENST00000589799.1_Intron	p.T615T	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN			5	1972	+		Prostate(69;0.0435)|all_neural(266;0.226)	615					B2RN78|B2RN79|Q86WL8	Silent	SNP	ENST00000391958.2	37	c.1845G>T	CCDS33047.1																																																																																				0.438	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		38	56	1	0	1.06647e-15	0.003755	1.53607e-15	38	56				
STK31	56164	broad.mit.edu	37	7	23871841	23871841	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:23871841C>T	ENST00000355870.3	+	24	3035	c.2916C>T	c.(2914-2916)ttC>ttT	p.F972F	STK31_ENST00000354639.3_Silent_p.F949F|STK31_ENST00000433467.2_Silent_p.F949F|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.F949F	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	972	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTGAATGTTTCTTGATGCCAA	0.353																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2845-2847)ttC>ttT		serine/threonine kinase 31							109.0	109.0	109.0					7																	23871841		2203	4300	6503	SO:0001819	synonymous_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23871841C>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2916C>T	7.37:g.23871841C>T						STK31_ENST00000433467.2_Silent_p.F949F|STK31_ENST00000428484.1_Silent_p.F949F|STK31_ENST00000355870.3_Silent_p.F972F|STK31_ENST00000405627.3_3'UTR	p.F949F	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			24	3311	+			972			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Silent	SNP	ENST00000355870.3	37	c.2847C>T	CCDS5386.1																																																																																				0.353	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		68	60	0	0	0	0.003610	0	68	60				
BNC1	646	broad.mit.edu	37	15	83926817	83926817	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:83926817C>T	ENST00000345382.2	-	5	2447	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	BNC1_ENST00000569704.1_Missense_Mutation_p.E781K|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	788					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AAATGATCTTCACTACTCTCC	0.458																																						ENST00000345382.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(2362-2364)Gaa>Aaa		basonuclin 1							152.0	137.0	142.0					15																	83926817		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83926817C>T	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2362G>A	15.37:g.83926817C>T	ENSP00000307041:p.Glu788Lys					RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.E781K	p.E788K	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN			5	2447	-			788					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.2362G>A	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	6.558	0.471321	0.12461	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.43294	0.95	5.08	5.08	0.68730	.	0.281001	0.38436	N	0.001693	T	0.17408	0.0418	N	0.14661	0.345	0.30312	N	0.788454	B;P	0.38922	0.041;0.651	B;B	0.24974	0.019;0.057	T	0.15407	-1.0438	10	0.06099	T	0.92	-23.9829	10.9024	0.47059	0.0:0.9133:0.0:0.0867	.	781;788	F5GY04;Q01954	.;BNC1_HUMAN	K	788;781	ENSP00000307041:E788K	ENSP00000307041:E788K	E	-	1	0	BNC1	81717821	1.000000	0.71417	0.939000	0.37840	0.403000	0.30841	3.290000	0.51755	2.642000	0.89623	0.467000	0.42956	GAA		0.458	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		36	63	0	0	0	0.005524	0	36	63				
TECRL	253017	broad.mit.edu	37	4	65147243	65147243	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr4:65147243G>A	ENST00000381210.3	-	10	977	c.867C>T	c.(865-867)aaC>aaT	p.N289N	TECRL_ENST00000507440.1_Silent_p.N289N	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	289					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ATGTGAAGGGGTTATAATTTG	0.328																																						ENST00000381210.3																			0				endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						c.(865-867)aaC>aaT		trans-2,3-enoyl-CoA reductase-like							104.0	102.0	102.0					4																	65147243		2203	4300	6503	SO:0001819	synonymous_variant	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65147243G>A	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.867C>T	4.37:g.65147243G>A						TECRL_ENST00000507440.1_Silent_p.N289N	p.N289N	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN			10	977	-			289						Silent	SNP	ENST00000381210.3	37	c.867C>T	CCDS33990.1																																																																																				0.328	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		19	7	0	0	0	0.006122	0	19	7				
LEPR	3953	broad.mit.edu	37	1	66081724	66081724	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:66081724C>T	ENST00000349533.6	+	15	2214	c.2029C>T	c.(2029-2031)Cag>Tag	p.Q677*	LEPR_ENST00000371060.3_Nonsense_Mutation_p.Q677*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.Q677*|LEPR_ENST00000371058.1_Nonsense_Mutation_p.Q677*|LEPR_ENST00000371059.3_Nonsense_Mutation_p.Q677*|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GTGCAGTGTTCAGAGATATGT	0.393																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(2029-2031)Cag>Tag		leptin receptor							110.0	101.0	104.0					1																	66081724		2203	4300	6503	SO:0001587	stop_gained	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66081724C>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2029C>T	1.37:g.66081724C>T	ENSP00000330393:p.Gln677*					LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Nonsense_Mutation_p.Q677*|LEPR_ENST00000371059.3_Nonsense_Mutation_p.Q677*|LEPR_ENST00000371060.3_Nonsense_Mutation_p.Q677*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.Q677*	p.Q677*	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	15	2214	+			677			Fibronectin type-III 3.		Q6FHL5	Nonsense_Mutation	SNP	ENST00000349533.6	37	c.2029C>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	34	5.377648	0.95945	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	.	.	.	5.37	1.58	0.23477	.	0.456851	0.26590	N	0.023538	.	.	.	.	.	.	0.29540	N	0.852166	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8649	15.6277	0.76874	0.3522:0.6478:0.0:0.0	.	.	.	.	X	677	.	ENSP00000340884:Q677X	Q	+	1	0	LEPR	65854312	0.959000	0.32827	0.549000	0.28204	0.263000	0.26337	0.460000	0.21924	0.014000	0.14944	-0.262000	0.10625	CAG		0.393	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		15	15	0	0	0	0.004007	0	15	15				
MUC3A	4584	broad.mit.edu	37	7	100551864	100551864	+	Silent	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:100551864C>G	ENST00000319509.7	+	1	615	c.615C>G	c.(613-615)ctC>ctG	p.L205L				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	1870	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AAACTTCACTCACATCTACAA	0.438																																						ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(613-615)ctC>ctG		mucin 3A, cell surface associated							679.0	663.0	668.0					7																	100551864		876	1991	2867	SO:0001819	synonymous_variant	4584							g.chr7:100551864C>G	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.615C>G	7.37:g.100551864C>G							p.L205L							1	615	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Silent	SNP	ENST00000319509.7	37	c.615C>G																																																																																					0.438	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		56	515	0	0	0	0.003610	0	56	515				
MTMR11	10903	broad.mit.edu	37	1	149905389	149905389	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:149905389C>T	ENST00000439741.2	-	10	1145	c.895G>A	c.(895-897)Gat>Aat	p.D299N	MTMR11_ENST00000406732.3_Missense_Mutation_p.D271N|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.D227N	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	299	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AGGACAACATCTGAATGCCCA	0.547																																						ENST00000439741.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.(895-897)Gat>Aat		myotubularin related protein 11							98.0	84.0	89.0					1																	149905389		2203	4300	6503	SO:0001583	missense	10903						phosphatase activity	g.chr1:149905389C>T	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.895G>A	1.37:g.149905389C>T	ENSP00000391668:p.Asp299Asn					MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.D227N|MTMR11_ENST00000406732.3_Missense_Mutation_p.D271N	p.D299N	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		10	1145	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		299			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	c.895G>A	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476299	0.44044	.	.	ENSG00000014914	ENST00000369140;ENST00000439741;ENST00000406732;ENST00000405710	D;D;D	0.92595	-3.07;-2.57;-3.07	5.23	5.23	0.72850	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.218630	0.39020	N	0.001496	D	0.88310	0.6402	N	0.19112	0.55	0.32929	D	0.516813	D;D;D;D	0.63880	0.974;0.991;0.991;0.993	P;P;P;D	0.65233	0.736;0.805;0.889;0.933	D	0.86342	0.1705	10	0.30854	T	0.27	.	11.9347	0.52866	0.0:0.8252:0.1747:0.0	.	141;271;227;299	F8W8W0;A4FU01-6;A4FU01-4;A4FU01	.;.;.;MTMRB_HUMAN	N	227;299;271;141	ENSP00000358136:D227N;ENSP00000391668:D299N;ENSP00000383948:D271N	ENSP00000358136:D227N	D	-	1	0	MTMR11	148172013	0.996000	0.38824	0.897000	0.35233	0.224000	0.24922	4.066000	0.57520	2.736000	0.93811	0.655000	0.94253	GAT		0.547	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		31	105	0	0	0	0.002445	0	31	105				
LDLRAD4	753	broad.mit.edu	37	18	13621229	13621229	+	Missense_Mutation	SNP	C	C	T	rs375984547		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr18:13621229C>T	ENST00000359446.5	+	4	763	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C	LDLRAD4_ENST00000399848.3_Missense_Mutation_p.R99C|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.R62C|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.R62C|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.R22C|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.R99C	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	99					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)	p.R99C(2)|p.R62C(1)									CTTCATCAACCGCCCGAACCA	0.637																																						ENST00000361205.4																			3	Substitution - Missense(3)	p.R99C(2)|p.R62C(1)	lung(2)|stomach(1)								c.(295-297)Cgc>Tgc		low density lipoprotein receptor class A domain containing 4		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	97.0	80.0	85.0		184,184,121,295,295,121	5.6	1.0	18		85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	C18orf1	NM_001003674.2,NM_001003675.2,NM_004338.3,NM_181481.3,NM_181482.3,NM_181483.3	180,180,180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	62/270,62/252,41/249,99/307,99/289,41/231	13621229	1,13005	2203	4300	6503	SO:0001583	missense	753							g.chr18:13621229C>T	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.295C>T	18.37:g.13621229C>T	ENSP00000352420:p.Arg99Cys					LDLRAD4_ENST00000359446.5_Missense_Mutation_p.R99C|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.R62C|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.R62C|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.R22C|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.R99C	p.R99C	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1					5	963	+								B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.295C>T	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574042	0.86542	0.0	1.16E-4	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.37411	1.2;1.48	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.65059	0.2655	M	0.81341	2.54	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.997;0.999;0.997;0.999;0.999;0.998	T	0.68652	-0.5352	10	0.87932	D	0	0.527	19.156	0.93510	0.0:1.0:0.0:0.0	.	41;41;62;62;99;99	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	C	99;99;62;62;41;41	ENSP00000354753:R99C;ENSP00000382741:R99C	ENSP00000352420:R62C	R	+	1	0	C18orf1	13611229	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	2.684000	0.46951	2.645000	0.89757	0.655000	0.94253	CGC		0.637	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		102	29	0	0	0	0.003610	0	102	29				
TRGV2	6974	broad.mit.edu	37	7	38402465	38402465	+	RNA	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:38402465C>A	ENST00000426402.2	-	0	543									T cell receptor gamma variable 2																		AATCACTGTGCCCGTCCCAGG	0.473																																						ENST00000426402.2																			0																				71.0	65.0	67.0					7																	38402465		1878	4116	5994			6974							g.chr7:38402465C>A	M13429		7p14	2012-02-07			ENSG00000233306	ENSG00000233306		"""T cell receptors / TRG locus"""	12287	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V2"""			TCRGV2		2938743, 2969332	Standard	NG_001336		Approved	VIS2			OTTHUMG00000155105		7.37:g.38402465C>A														0	543	-									RNA	SNP	ENST00000426402.2	37																																																																																						0.473	TRGV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338419.4	NG_001336		31	27	1	0	6.00712e-18	0.002445	8.87128e-18	31	27				
PPP1R9A	55607	broad.mit.edu	37	7	94791279	94791279	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:94791279G>A	ENST00000433881.1	+	5	2282	c.1750G>A	c.(1750-1752)Gtc>Atc	p.V584I	AC002429.5_ENST00000417881.2_RNA|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.V584I|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.V584I|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.V584I|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.V584I|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.V584I			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	584	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAAGGGCAACGTCAGGTAAAT	0.363										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(1750-1752)Gtc>Atc		protein phosphatase 1, regulatory subunit 9A							100.0	86.0	90.0					7																	94791279		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94791279G>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1750G>A	7.37:g.94791279G>A	ENSP00000398870:p.Val584Ile	HNSCC(28;0.073)				AC002429.5_ENST00000417881.2_RNA|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.V584I|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.V584I|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.V584I|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.V584I|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.V584I	p.V584I	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		4	1966	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		584			PDZ.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.1750G>A	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	31	5.091302	0.94149	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	4.85	4.85	0.62838	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.50377	0.1612	L	0.48877	1.53	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.998	D;D;D;D;D	0.85130	0.99;0.997;0.983;0.991;0.989	T	0.51379	-0.8713	10	0.87932	D	0	.	17.6008	0.88024	0.0:0.0:1.0:0.0	.	584;584;584;584;584	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	I	584	ENSP00000405514:V584I;ENSP00000344524:V584I;ENSP00000411342:V584I;ENSP00000398870:V584I;ENSP00000289495:V584I;ENSP00000402893:V584I	ENSP00000289495:V584I	V	+	1	0	PPP1R9A	94629215	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.335000	0.96500	2.634000	0.89283	0.591000	0.81541	GTC		0.363	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		5	3	0	0	0	0.001168	0	5	3				
CNKSR2	22866	broad.mit.edu	37	X	21627262	21627262	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:21627262C>G	ENST00000379510.3	+	20	2255	c.2219C>G	c.(2218-2220)tCt>tGt	p.S740C	CNKSR2_ENST00000279451.4_Missense_Mutation_p.S740C|CNKSR2_ENST00000425654.2_Missense_Mutation_p.S710C|CNKSR2_ENST00000543067.1_Missense_Mutation_p.S691C	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	740					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CAGTCTCAGTCTTCTCATGAG	0.517																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2128-2130)tCt>tGt		connector enhancer of kinase suppressor of Ras 2							68.0	67.0	68.0					X																	21627262		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627262C>G	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2219C>G	X.37:g.21627262C>G	ENSP00000368824:p.Ser740Cys					CNKSR2_ENST00000379510.3_Missense_Mutation_p.S740C|CNKSR2_ENST00000279451.4_Missense_Mutation_p.S740C|CNKSR2_ENST00000543067.1_Missense_Mutation_p.S691C	p.S710C	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	2609	+			740					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.2129C>G	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923821	0.73213	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.35421	1.31;1.62;1.69;1.51	5.63	5.63	0.86233	.	0.099026	0.64402	D	0.000001	T	0.62853	0.2462	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	T	0.65278	-0.6207	10	0.59425	D	0.04	-26.1172	18.6498	0.91427	0.0:1.0:0.0:0.0	.	710;691;332;740	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	C	710;691;740;740	ENSP00000397906:S710C;ENSP00000444633:S691C;ENSP00000279451:S740C;ENSP00000368824:S740C	ENSP00000279451:S740C	S	+	2	0	CNKSR2	21537183	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.348000	0.79779	0.594000	0.82650	TCT		0.517	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		34	10	0	0	0	0.003271	0	34	10				
PRSS37	136242	broad.mit.edu	37	7	141536336	141536336	+	Splice_Site	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:141536336C>A	ENST00000350549.3	-	5	939		c.e5-1		PRSS37_ENST00000438520.1_Splice_Site	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37						binding of sperm to zona pellucida (GO:0007339)|cell migration (GO:0016477)|protein maturation (GO:0051604)	extracellular region (GO:0005576)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						CGGCCACCTCCTACCGGAGAT	0.547																																						ENST00000350549.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						c.e5-1		protease, serine, 37							90.0	75.0	80.0					7																	141536336		2203	4300	6503	SO:0001630	splice_region_variant	136242				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141536336C>A		CCDS34764.1	7q34	2010-05-07			ENSG00000165076	ENSG00000165076		"""Serine peptidases / Serine peptidases"""	29211	protein-coding gene	gene with protein product							Standard	NM_001008270		Approved		uc003vws.2	A4D1T9	OTTHUMG00000157174	ENST00000350549.3:c.568-1G>T	7.37:g.141536336C>A						PRSS37_ENST00000438520.1_Splice_Site		NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN			5	939	-								B2RPB5	Splice_Site	SNP	ENST00000350549.3	37		CCDS34764.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363019	0.61403	.	.	ENSG00000165076	ENST00000350549;ENST00000438520	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.505	0.67746	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRSS37	141182805	0.211000	0.23529	0.998000	0.56505	0.760000	0.43138	2.025000	0.41059	2.808000	0.96608	0.585000	0.79938	.		0.547	PRSS37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347763.1	NM_001008270	Intron	12	4	1	0	6.40141e-05	0.000978	7.8066e-05	12	4				
TUBBP5	643224	broad.mit.edu	37	9	141070139	141070139	+	RNA	SNP	C	C	T	rs143443709		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:141070139C>T	ENST00000503395.1	+	0	1219									tubulin, beta pseudogene 5									p.L85F(2)									CGGGCAGGTCCTCAGGCCAGA	0.667																																						ENST00000503395.1																			2	Substitution - Missense(2)	p.L85F(2)	urinary_tract(1)|prostate(1)																																																643224							g.chr9:141070139C>T	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070139C>T														0	1219	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.667	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		5	88	0	0	0	0.000602	0	5	88				
ZNF776	284309	broad.mit.edu	37	19	58265188	58265188	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:58265188C>A	ENST00000317178.5	+	3	953	c.690C>A	c.(688-690)ctC>ctA	p.L230L		NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	230					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		AGAGACTTCTCCCTAGAGAAG	0.418																																						ENST00000317178.5																			0				cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(688-690)ctC>ctA		zinc finger protein 776							82.0	82.0	82.0					19																	58265188		2203	4300	6503	SO:0001819	synonymous_variant	284309							g.chr19:58265188C>A	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.690C>A	19.37:g.58265188C>A							p.L230L	NM_173632.3	NP_775903.3				UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	3	953	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)						Q6ZS36|Q8N968	Silent	SNP	ENST00000317178.5	37	c.690C>A	CCDS12962.2																																																																																				0.418	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632		38	69	1	0	1.04594e-18	0.006230	1.56444e-18	38	69				
SDCCAG3	10807	broad.mit.edu	37	9	139301763	139301763	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:139301763G>A	ENST00000357365.3	-	5	782	c.653C>T	c.(652-654)cCg>cTg	p.P218L	SDCCAG3_ENST00000298537.7_Missense_Mutation_p.P195L|SDCCAG3_ENST00000371725.3_Missense_Mutation_p.P145L|SDCCAG3_ENST00000461693.1_5'Flank	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	218						cytoplasm (GO:0005737)		p.P218L(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CAGCTCCGACGGGGTGGAGAA	0.657																																						ENST00000298537.7																			1	Substitution - Missense(1)	p.P218L(1)	endometrium(1)	NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16						c.(583-585)cCg>cTg		serologically defined colon cancer antigen 3							17.0	20.0	19.0					9																	139301763		2061	4180	6241	SO:0001583	missense	10807					cytoplasm		g.chr9:139301763G>A	AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.653C>T	9.37:g.139301763G>A	ENSP00000349929:p.Pro218Leu					SDCCAG3_ENST00000371725.3_Missense_Mutation_p.P145L|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.P218L	p.P195L	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)	4	795	-		Myeloproliferative disorder(178;0.0511)	218					A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Missense_Mutation	SNP	ENST00000357365.3	37	c.584C>T	CCDS43904.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025101	0.35701	.	.	ENSG00000165689	ENST00000357365;ENST00000298537;ENST00000371725;ENST00000371723	T;T;T;T	0.34667	2.43;2.49;2.47;1.35	5.29	5.29	0.74685	.	0.287890	0.38720	N	0.001587	T	0.33876	0.0878	L	0.56769	1.78	0.26509	N	0.974639	P;P;P	0.50066	0.931;0.931;0.931	B;B;B	0.37267	0.245;0.245;0.245	T	0.40156	-0.9578	10	0.36615	T	0.2	-8.2488	16.4217	0.83760	0.0:0.0:1.0:0.0	.	145;195;218	Q96C92-4;Q96C92-2;Q96C92	.;.;SDCG3_HUMAN	L	218;195;145;168	ENSP00000349929:P218L;ENSP00000298537:P195L;ENSP00000360790:P145L;ENSP00000360788:P168L	ENSP00000298537:P195L	P	-	2	0	SDCCAG3	138421584	0.852000	0.29690	0.152000	0.22495	0.017000	0.09413	5.154000	0.64894	2.449000	0.82847	0.655000	0.94253	CCG		0.657	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055060.2	NM_006643		11	8	0	0	0	0.000978	0	11	8				
MGAM	8972	broad.mit.edu	37	7	141755884	141755884	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:141755884A>C	ENST00000549489.2	+	29	3663	c.3568A>C	c.(3568-3570)Agc>Cgc	p.S1190R	MGAM_ENST00000475668.2_Missense_Mutation_p.S1190R	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1190	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTGCTGAACAGCAATGCCAT	0.512																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(3568-3570)Agc>Cgc		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						32.0	31.0	31.0					7																	141755884		1961	4156	6117	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141755884A>C	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3568A>C	7.37:g.141755884A>C	ENSP00000447378:p.Ser1190Arg					MGAM_ENST00000549489.2_Missense_Mutation_p.S1190R	p.S1190R			O43451	MGA_HUMAN			29	3622	+	Melanoma(164;0.0272)		1190			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.3568A>C	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	A	18.77	3.694837	0.68386	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.87179	-2.22	4.11	4.11	0.48088	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.42294	D	0.000736	D	0.95604	0.8571	H	0.97806	4.08	0.43338	D	0.995386	D	0.89917	1.0	D	0.81914	0.995	D	0.96403	0.9298	10	0.87932	D	0	.	12.0707	0.53616	1.0:0.0:0.0:0.0	.	1190	O43451	MGA_HUMAN	R	1190;1190;1067	ENSP00000447378:S1190R	ENSP00000316431:S1067R	S	+	1	0	MGAM	141402353	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	8.918000	0.92759	1.486000	0.48398	0.260000	0.18958	AGC		0.512	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			8	3	0	0	0	0.003080	0	8	3				
LRRK1	79705	broad.mit.edu	37	15	101567909	101567909	+	Missense_Mutation	SNP	G	G	T	rs202089769		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:101567909G>T	ENST00000388948.3	+	19	2952	c.2593G>T	c.(2593-2595)Gac>Tac	p.D865Y	LRRK1_ENST00000284395.5_Missense_Mutation_p.D862Y	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGCCGGGACGACGACGTGCA	0.662																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(2584-2586)Gac>Tac		leucine-rich repeat kinase 1							25.0	35.0	32.0					15																	101567909		2159	4265	6424	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101567909G>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2593G>T	15.37:g.101567909G>T	ENSP00000373600:p.Asp865Tyr					LRRK1_ENST00000388948.3_Missense_Mutation_p.D865Y	p.D862Y			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		20	2984	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		865						Missense_Mutation	SNP	ENST00000388948.3	37	c.2584G>T	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788508	0.70337	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.73897	-0.77;-0.79	4.35	4.35	0.52113	.	0.064020	0.64402	D	0.000008	D	0.82870	0.5131	M	0.61703	1.905	0.58432	D	0.999995	D	0.69078	0.997	P	0.61722	0.893	D	0.85601	0.1252	10	0.72032	D	0.01	.	17.2497	0.87039	0.0:0.0:1.0:0.0	.	865	Q38SD2	LRRK1_HUMAN	Y	865;862	ENSP00000373600:D865Y;ENSP00000284395:D862Y	ENSP00000284395:D862Y	D	+	1	0	LRRK1	99385432	1.000000	0.71417	0.024000	0.17045	0.854000	0.48673	4.940000	0.63533	2.134000	0.65973	0.563000	0.77884	GAC		0.662	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		12	7	1	0	7.93312e-07	0.002450	9.9164e-07	12	7				
ALG5	29880	broad.mit.edu	37	13	37524134	37524134	+	Missense_Mutation	SNP	C	C	T	rs201593403		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr13:37524134C>T	ENST00000239891.3	-	10	986	c.920G>A	c.(919-921)cGa>cAa	p.R307Q	ALG5_ENST00000443765.1_Missense_Mutation_p.R277Q	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	307					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		ATATCGAAGTCGTATAAAAAG	0.353																																						ENST00000239891.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(919-921)cGa>cAa		ALG5, dolichyl-phosphate beta-glucosyltransferase							85.0	83.0	83.0					13																	37524134		2203	4300	6503	SO:0001583	missense	29880				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity	g.chr13:37524134C>T	AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"""Glycosyltransferase family 2 domain containing"""	20266	protein-coding gene	gene with protein product		604565	"""asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)"", ""asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"""			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.920G>A	13.37:g.37524134C>T	ENSP00000239891:p.Arg307Gln					ALG5_ENST00000443765.1_Missense_Mutation_p.R277Q	p.R307Q	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)	10	986	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	307					B4DR37|Q5TBA6	Missense_Mutation	SNP	ENST00000239891.3	37	c.920G>A	CCDS9361.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863852	0.91511	.	.	ENSG00000120697	ENST00000443765;ENST00000239891	T;T	0.59364	0.27;0.27	5.86	5.86	0.93980	.	0.056985	0.64402	D	0.000001	T	0.80369	0.4610	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.72075	0.976;0.947	T	0.78398	-0.2219	10	0.30854	T	0.27	.	20.1754	0.98177	0.0:1.0:0.0:0.0	.	277;307	Q9Y673-2;Q9Y673	.;ALG5_HUMAN	Q	277;307	ENSP00000390533:R277Q;ENSP00000239891:R307Q	ENSP00000239891:R307Q	R	-	2	0	ALG5	36422134	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.255000	0.78338	2.774000	0.95407	0.655000	0.94253	CGA		0.353	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044528.2	NM_013338		16	33	0	0	0	0.006122	0	16	33				
OR4Q3	441669	broad.mit.edu	37	14	20216179	20216179	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr14:20216179T>A	ENST00000331723.1	+	1	593	c.593T>A	c.(592-594)gTg>gAg	p.V198E		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGTAGAGGTGCTGGTGATA	0.493																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(592-594)gTg>gAg		olfactory receptor, family 4, subfamily Q, member 3							207.0	162.0	177.0					14																	20216179		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216179T>A	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.593T>A	14.37:g.20216179T>A	ENSP00000330049:p.Val198Glu						p.V198E	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	593	+	all_cancers(95;0.00108)		198					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.593T>A	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	11.54	1.668942	0.29604	.	.	ENSG00000182652	ENST00000331723	T	0.00193	8.58	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.226592	0.21659	U	0.071050	T	0.00356	0.0011	L	0.47016	1.485	0.09310	N	1	D	0.58620	0.983	P	0.61477	0.889	T	0.56619	-0.7949	10	0.87932	D	0	.	11.2781	0.49178	0.0:0.0:0.0:1.0	.	198	Q8NH05	OR4Q3_HUMAN	E	198	ENSP00000330049:V198E	ENSP00000330049:V198E	V	+	2	0	OR4Q3	19286019	0.001000	0.12720	0.410000	0.26471	0.033000	0.12548	0.958000	0.29227	1.758000	0.51981	0.416000	0.27883	GTG		0.493	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			25	36	0	0	0	0.002780	0	25	36				
MUC5B	727897	broad.mit.edu	37	11	1263788	1263788	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:1263788C>A	ENST00000529681.1	+	31	5736	c.5678C>A	c.(5677-5679)tCc>tAc	p.S1893Y	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.S1896Y	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1893	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCACCAGCTCCACGGCCACG	0.612																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(5686-5688)tCc>tAc		mucin 5B, oligomeric mucus/gel-forming							82.0	102.0	95.0					11																	1263788		2186	4273	6459	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1263788C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5678C>A	11.37:g.1263788C>A	ENSP00000436812:p.Ser1893Tyr					MUC5B_ENST00000529681.1_Missense_Mutation_p.S1893Y|RP11-532E4.2_ENST00000532061.2_RNA	p.S1896Y			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	5745	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1893			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.5687C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	9.324	1.058790	0.19987	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.18657	2.2;2.39	3.68	-1.5	0.08691	.	.	.	.	.	T	0.20455	0.0492	L	0.50333	1.59	0.09310	N	1	P;P	0.45902	0.868;0.868	B;B	0.42030	0.304;0.373	T	0.21008	-1.0258	9	0.87932	D	0	.	11.194	0.48703	0.0:0.7408:0.1771:0.082	.	2586;1896	A7Y9J9;E9PBJ0	.;.	Y	1893;1896;1894;1963	ENSP00000436812:S1893Y;ENSP00000415793:S1896Y	ENSP00000343037:S1894Y	S	+	2	0	MUC5B	1220364	0.001000	0.12720	0.000000	0.03702	0.040000	0.13550	1.122000	0.31295	-0.221000	0.09973	0.205000	0.17691	TCC		0.612	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		45	81	1	0	1.86633e-21	0.003610	2.86499e-21	45	81				
GRM8	2918	broad.mit.edu	37	7	126544151	126544151	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:126544151T>C	ENST00000339582.2	-	5	1701	c.893A>G	c.(892-894)aAc>aGc	p.N298S	GRM8_ENST00000405249.1_Missense_Mutation_p.N298S|GRM8_ENST00000358373.3_Missense_Mutation_p.N298S|GRM8_ENST00000444921.2_Missense_Mutation_p.N298S|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	298					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CCCACTTTGGTTTAGTTTTTT	0.368										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(892-894)aAc>aGc		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						108.0	102.0	104.0					7																	126544151		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126544151T>C		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.893A>G	7.37:g.126544151T>C	ENSP00000344173:p.Asn298Ser	HNSCC(24;0.065)				GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.N298S|GRM8_ENST00000444921.2_Missense_Mutation_p.N298S|GRM8_ENST00000358373.3_Missense_Mutation_p.N298S	p.N298S			O00222	GRM8_HUMAN			5	1701	-		Prostate(267;0.186)	298					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.893A>G	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.147294	0.77888	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	5.27	5.27	0.74061	Extracellular ligand-binding receptor (1);	0.053377	0.64402	D	0.000001	D	0.91868	0.7426	M	0.89840	3.065	0.58432	D	0.999997	P;P;P	0.46020	0.593;0.75;0.871	B;B;P	0.48952	0.198;0.316;0.596	D	0.93158	0.6555	10	0.62326	D	0.03	.	14.4011	0.67047	0.0:0.0:0.0:1.0	.	298;298;298	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	S	298	ENSP00000344173:N298S;ENSP00000409790:N298S;ENSP00000351142:N298S;ENSP00000385731:N298S	ENSP00000344173:N298S	N	-	2	0	GRM8	126331387	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.939000	0.87685	1.998000	0.58463	0.416000	0.27883	AAC		0.368	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			42	60	0	0	0	0.002222	0	42	60				
TTN	7273	broad.mit.edu	37	2	179596593	179596593	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:179596593C>G	ENST00000591111.1	-	56	16282	c.16058G>C	c.(16057-16059)tGg>tCg	p.W5353S	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.W5670S|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W4426S|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12171	Ig-like 34.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTTTGAACCAAGTGATCTC	0.428																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(17008-17010)tGg>tCg		titin							118.0	122.0	121.0					2																	179596593		2026	4196	6222	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596593C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16058G>C	2.37:g.179596593C>G	ENSP00000465570:p.Trp5353Ser					TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.W4426S|TTN_ENST00000591111.1_Missense_Mutation_p.W5353S|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.W5670S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		58	17233	-			5353			Ig-like 37.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.17009G>C		.	.	.	.	.	.	.	.	.	.	C	10.35	1.327049	0.24080	.	.	ENSG00000155657	ENST00000342992	D	0.96300	-3.97	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.98738	0.9576	H	0.97707	4.06	0.80722	D	1	D	0.60575	0.988	P	0.57057	0.812	D	0.98968	1.0800	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	5353	Q8WZ42	TITIN_HUMAN	S	4426	ENSP00000343764:W4426S	ENSP00000343764:W4426S	W	-	2	0	TTN	179304838	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.883000	0.56168	2.941000	0.99782	0.655000	0.94253	TGG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		37	139	0	0	0	0.004289	0	37	139				
LYZL6	57151	broad.mit.edu	37	17	34266465	34266465	+	De_novo_Start_InFrame	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:34266465G>T	ENST00000585556.1	-	0	230				LYZL6_ENST00000293274.4_Intron|LYZL6_ENST00000394523.3_De_novo_Start_InFrame|LYZL6_ENST00000492340.2_5'Flank			O75951	LYZL6_HUMAN	lysozyme-like 6						cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGGCAGCCAGGTTTCCTTAC	0.448																																						ENST00000585556.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12								lysozyme-like 6																																						57151				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr17:34266465G>T	AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400		17.37:g.34266465G>T						LYZL6_ENST00000293274.4_Intron|LYZL6_ENST00000394523.3_De_novo_Start_InFrame				O75951	LYZL6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	0	230	-								Q6UW30	Translation_Start_Site	SNP	ENST00000585556.1	37		CCDS11302.1																																																																																				0.448	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256578.2	NM_020426		8	23	1	0	0.00307968	0.003080	0.00365386	8	23				
PKHD1L1	93035	broad.mit.edu	37	8	110451290	110451290	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:110451290G>A	ENST00000378402.5	+	32	4029	c.3925G>A	c.(3925-3927)Gaa>Aaa	p.E1309K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1309	IPT/TIG 6.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TATCTATGTAGAAGTCAGAAA	0.398										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(3925-3927)Gaa>Aaa		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							138.0	133.0	135.0					8																	110451290		1842	4091	5933	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110451290G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3925G>A	8.37:g.110451290G>A	ENSP00000367655:p.Glu1309Lys	HNSCC(38;0.096)					p.E1309K	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		32	4029	+			1309			IPT/TIG 6.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.3925G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	6.193	0.403784	0.11754	.	.	ENSG00000205038	ENST00000378402	T	0.76578	-1.03	5.95	5.07	0.68467	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.248378	0.37530	N	0.002051	T	0.59702	0.2213	L	0.27053	0.805	0.24003	N	0.996209	B	0.12013	0.005	B	0.14023	0.01	T	0.43163	-0.9408	10	0.06757	T	0.87	.	7.9061	0.29763	0.0864:0.1623:0.7512:0.0	.	1309	Q86WI1	PKHL1_HUMAN	K	1309	ENSP00000367655:E1309K	ENSP00000367655:E1309K	E	+	1	0	PKHD1L1	110520466	0.996000	0.38824	0.988000	0.46212	0.895000	0.52256	2.401000	0.44513	1.497000	0.48584	0.655000	0.94253	GAA		0.398	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		64	106	0	0	0	0.003610	0	64	106				
PRRX1	5396	broad.mit.edu	37	1	170688866	170688866	+	Splice_Site	SNP	G	G	C	rs540157709		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:170688866G>C	ENST00000239461.6	+	2	554		c.e2-1		PRRX1_ENST00000367760.3_Splice_Site|PRRX1_ENST00000497230.2_Splice_Site	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1						artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCTATTCCAGATGACCAGCT	0.408													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21035	0.0		0.0	False		,,,				2504	0.0					ENST00000239461.6																			0				large_intestine(2)|ovary(1)	3						c.e2-1		paired related homeobox 1							41.0	40.0	41.0					1																	170688866		2203	4300	6503	SO:0001630	splice_region_variant	5396					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:170688866G>C	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.242-1G>C	1.37:g.170688866G>C						PRRX1_ENST00000367760.3_Splice_Site|PRRX1_ENST00000497230.2_Splice_Site		NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN			2	554	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)							B5BUM7|O60807	Splice_Site	SNP	ENST00000239461.6	37		CCDS1290.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922477	0.52653	.	.	ENSG00000116132	ENST00000553786;ENST00000367760;ENST00000239461;ENST00000497230	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1089	0.86670	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRRX1	168955490	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	7.508000	0.81686	2.352000	0.79861	0.655000	0.94253	.		0.408	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902	Intron	14	19	0	0	0	0.003163	0	14	19				
OR1N2	138882	broad.mit.edu	37	9	125315511	125315511	+	Silent	SNP	G	G	C	rs267602122		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:125315511G>C	ENST00000373688.2	+	1	121	c.63G>C	c.(61-63)gtG>gtC	p.V21V		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CAGGCAGAGTGAACCAAACCA	0.448																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(61-63)gtG>gtC		olfactory receptor, family 1, subfamily N, member 2							108.0	104.0	105.0					9																	125315511		2203	4300	6503	SO:0001819	synonymous_variant	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125315511G>C		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.63G>C	9.37:g.125315511G>C							p.V21V	NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN			1	121	+			21					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Silent	SNP	ENST00000373688.2	37	c.63G>C	CCDS35123.1																																																																																				0.448	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			39	59	0	0	0	0.004289	0	39	59				
RSRC1	51319	broad.mit.edu	37	3	157920993	157920993	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:157920993G>C	ENST00000295930.3	+	4	615	c.453G>C	c.(451-453)aaG>aaC	p.K151N	RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000480820.1_Missense_Mutation_p.K151N|RSRC1_ENST00000475278.2_Missense_Mutation_p.K151N	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	151				EK -> GE (in Ref. 3; AAF64267). {ECO:0000305}.	mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			aaaaggagaaggataaaggga	0.448																																						ENST00000295930.3																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18						c.(451-453)aaG>aaC		arginine/serine-rich coiled-coil 1							111.0	119.0	116.0					3																	157920993		2203	4300	6503	SO:0001583	missense	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:157920993G>C	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.453G>C	3.37:g.157920993G>C	ENSP00000295930:p.Lys151Asn					RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000480820.1_Missense_Mutation_p.K151N|RSRC1_ENST00000475278.2_Missense_Mutation_p.K151N	p.K151N	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		4	615	+			151	EK -> GE (in Ref. 3; AAF64267).				A8K2R9|Q96QK2|Q9NZE5	Missense_Mutation	SNP	ENST00000295930.3	37	c.453G>C	CCDS3181.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.46|11.46	1.646384|1.646384	0.29246|0.29246	.|.	.|.	ENSG00000174891|ENSG00000174891	ENST00000482822|ENST00000480820;ENST00000494002;ENST00000295930;ENST00000471994;ENST00000475278;ENST00000476899	.|.	.|.	.|.	5.04|5.04	1.74|1.74	0.24563|0.24563	.|.	.|0.218549	.|0.42964	.|D	.|0.000639	T|T	0.43831|0.43831	0.1265|0.1265	L|L	0.32530|0.32530	0.975|0.975	0.41042|0.41042	D|D	0.98523|0.98523	.|P	.|0.51351	.|0.944	.|P	.|0.46850	.|0.529	T|T	0.40646|0.40646	-0.9552|-0.9552	5|9	.|0.59425	.|D	.|0.04	.|.	9.3912|9.3912	0.38374|0.38374	0.3038:0.0:0.6962:0.0|0.3038:0.0:0.6962:0.0	.|.	.|151	.|Q96IZ7	.|RSRC1_HUMAN	R|N	45|151	.|.	.|ENSP00000295930:K151N	G|K	+|+	1|3	0|2	RSRC1|RSRC1	159403687|159403687	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.394000|0.394000	0.30568|0.30568	0.970000|0.970000	0.29383|0.29383	0.650000|0.650000	0.30769|0.30769	-0.191000|-0.191000	0.12829|0.12829	GGA|AAG		0.448	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625		9	25	0	0	0	0.004482	0	9	25				
MYO7A	4647	broad.mit.edu	37	11	76916513	76916513	+	Silent	SNP	C	C	T	rs397516318		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:76916513C>T	ENST00000409709.3	+	40	5759	c.5487C>T	c.(5485-5487)agC>agT	p.S1829S	MYO7A_ENST00000605744.1_Intron|MYO7A_ENST00000409619.2_Silent_p.S1780S|MYO7A_ENST00000458637.2_Silent_p.S1791S	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1829	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCAGGTACAGCGAGGAGCGGG	0.677																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(5485-5487)agC>agT		myosin VIIA							17.0	22.0	20.0					11																	76916513		2087	4183	6270	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76916513C>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.5487C>T	11.37:g.76916513C>T						MYO7A_ENST00000409619.2_Silent_p.S1780S|MYO7A_ENST00000605744.1_Intron|MYO7A_ENST00000458637.2_Silent_p.S1791S	p.S1829S	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			40	5759	+			1829			MyTH4 2.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.5487C>T	CCDS53683.1																																																																																				0.677	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		5	0	0	0	0	0.000602	0	5	0				
AFF2	2334	broad.mit.edu	37	X	148072769	148072769	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:148072769G>T	ENST00000370460.2	+	21	4322	c.3843G>T	c.(3841-3843)atG>atT	p.M1281I	AFF2_ENST00000342251.3_Missense_Mutation_p.M1248I|AFF2_ENST00000370457.5_Missense_Mutation_p.M1246I|AFF2_ENST00000286437.5_Missense_Mutation_p.M922I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1281					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACACGCTGATGGGGCCTCTGA	0.493																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(3841-3843)atG>atT		AF4/FMR2 family, member 2							187.0	142.0	157.0					X																	148072769		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148072769G>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3843G>T	X.37:g.148072769G>T	ENSP00000359489:p.Met1281Ile					AFF2_ENST00000370457.5_Missense_Mutation_p.M1246I|AFF2_ENST00000342251.3_Missense_Mutation_p.M1248I|AFF2_ENST00000286437.5_Missense_Mutation_p.M922I	p.M1281I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			21	4322	+	Acute lymphoblastic leukemia(192;6.56e-05)		1281					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3843G>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285906	0.80803	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.80199	0.4579	M	0.82716	2.605	0.58432	D	0.999997	B;P;P;D;D;D	0.69078	0.255;0.807;0.947;0.996;0.996;0.997	P;P;P;D;D;D	0.75020	0.745;0.899;0.859;0.974;0.974;0.985	T	0.78303	-0.2256	10	0.24483	T	0.36	.	18.3933	0.90490	0.0:0.0:1.0:0.0	.	922;1246;1246;1242;1271;1281	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	I	1281;1246;1248;922	ENSP00000359489:M1281I;ENSP00000359486:M1246I;ENSP00000345459:M1248I;ENSP00000286437:M922I	ENSP00000286437:M922I	M	+	3	0	AFF2	147880475	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.770000	0.85390	2.283000	0.76528	0.600000	0.82982	ATG		0.493	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		62	18	1	0	2.02796e-37	0.003610	3.36391e-37	62	18				
PSKH2	85481	broad.mit.edu	37	8	87060915	87060915	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:87060915C>G	ENST00000276616.2	-	3	1008	c.934G>C	c.(934-936)Ggc>Cgc	p.G312R		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	312	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			AGGGCCTGGCCAGCTGACATG	0.512																																						ENST00000276616.2																			0				NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47						c.(934-936)Ggc>Cgc		protein serine kinase H2							79.0	86.0	83.0					8																	87060915		2203	4300	6503	SO:0001583	missense	85481						ATP binding|protein serine/threonine kinase activity	g.chr8:87060915C>G	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.934G>C	8.37:g.87060915C>G	ENSP00000276616:p.Gly312Arg						p.G312R	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	STAD - Stomach adenocarcinoma(118;0.129)		3	1008	-			312			Protein kinase.		A0AV22	Missense_Mutation	SNP	ENST00000276616.2	37	c.934G>C	CCDS6240.1	.	.	.	.	.	.	.	.	.	.	C	9.218	1.032646	0.19590	.	.	ENSG00000147613	ENST00000276616	T	0.64085	-0.08	4.94	3.14	0.36123	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.35998	0.0951	N	0.02202	-0.64	0.24898	N	0.992123	B	0.31705	0.336	B	0.39027	0.288	T	0.30090	-0.9990	9	0.24483	T	0.36	.	4.5473	0.12087	0.1751:0.6377:0.0:0.1872	.	312	Q96QS6	KPSH2_HUMAN	R	312	ENSP00000276616:G312R	ENSP00000276616:G312R	G	-	1	0	PSKH2	87130031	0.039000	0.19947	0.971000	0.41717	0.850000	0.48378	2.346000	0.44027	0.495000	0.27882	0.555000	0.69702	GGC		0.512	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		36	49	0	0	0	0.004289	0	36	49				
FBXL7	23194	broad.mit.edu	37	5	15616151	15616151	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:15616151A>G	ENST00000504595.1	+	2	578	c.97A>G	c.(97-99)Aaa>Gaa	p.K33E	FBXL7_ENST00000510662.1_5'UTR|FBXL7_ENST00000329673.7_Missense_Mutation_p.K21E	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	33					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CACGCCCACTAAAGCCCAGAA	0.453																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(97-99)Aaa>Gaa		F-box and leucine-rich repeat protein 7							85.0	86.0	86.0					5																	15616151		1998	4177	6175	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15616151A>G	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.97A>G	5.37:g.15616151A>G	ENSP00000423630:p.Lys33Glu					FBXL7_ENST00000510662.1_5'UTR|FBXL7_ENST00000329673.7_Missense_Mutation_p.K21E	p.K33E	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			2	578	+			33					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.97A>G	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	A	14.81	2.647095	0.47258	.	.	ENSG00000183580	ENST00000504595;ENST00000329673	T;T	0.13778	2.64;2.56	5.9	4.84	0.62591	.	0.276068	0.33127	N	0.005259	T	0.08537	0.0212	N	0.24115	0.695	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.09930	-1.0652	10	0.07030	T	0.85	.	11.5371	0.50643	0.7868:0.2132:0.0:0.0	.	33	Q9UJT9	FBXL7_HUMAN	E	33;21	ENSP00000423630:K33E;ENSP00000329632:K21E	ENSP00000329632:K21E	K	+	1	0	FBXL7	15669151	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.934000	0.75880	1.227000	0.43598	0.533000	0.62120	AAA		0.453	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		10	25	0	0	0	0.001368	0	10	25				
RP11-478B9.1	0	broad.mit.edu	37	12	45459000	45459000	+	RNA	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:45459000C>T	ENST00000548424.1	+	0	448																											AGTCAGTCCTCTCCCACTTTT	0.448																																						ENST00000548424.1																			0																																																			0							g.chr12:45459000C>T																													12.37:g.45459000C>T														0	448	+									RNA	SNP	ENST00000548424.1	37																																																																																						0.448	RP11-478B9.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000404811.1			10	17	0	0	0	0.006214	0	10	17				
TBX3	6926	broad.mit.edu	37	12	115109999	115109999	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:115109999G>A	ENST00000257566.3	-	8	2268	c.1879C>T	c.(1879-1881)Ccc>Tcc	p.P627S	TBX3_ENST00000349155.2_Missense_Mutation_p.P607S	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	627	Transcription repression.			SAAASSSVHRHPF -> LRQPQLRCTAPL (in Ref. 1). {ECO:0000305}.	anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TTGAGGAAGGGGTGGCGGTGC	0.682																																						ENST00000349155.2																			0				breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1819-1821)Ccc>Tcc		T-box 3							10.0	8.0	9.0					12																	115109999		2155	4245	6400	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115109999G>A	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1879C>T	12.37:g.115109999G>A	ENSP00000257566:p.Pro627Ser					TBX3_ENST00000257566.3_Missense_Mutation_p.P627S	p.P607S	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	7	2782	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		627			Transcription repression.		Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.1819C>T	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913670	0.52439	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.88818	-2.39;-2.43	4.62	2.76	0.32466	.	1.389650	0.04711	N	0.417699	D	0.86322	0.5905	L	0.39397	1.21	0.54753	D	0.999984	B;B	0.21147	0.052;0.011	B;B	0.29176	0.099;0.014	T	0.72265	-0.4344	10	0.48119	T	0.1	.	8.9949	0.36045	0.185:0.0:0.815:0.0	.	607;627	O15119-2;O15119	.;TBX3_HUMAN	S	607;627;501	ENSP00000257567:P607S;ENSP00000257566:P627S	ENSP00000257566:P627S	P	-	1	0	TBX3	113594382	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.092000	0.76930	0.930000	0.37217	0.655000	0.94253	CCC		0.682	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		3	2	0	0	0	0.004672	0	3	2				
OR5P2	120065	broad.mit.edu	37	11	7818034	7818034	+	Silent	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:7818034A>G	ENST00000329434.2	-	1	486	c.456T>C	c.(454-456)gcT>gcC	p.A152A	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TATAGGAGACAGCAATGAGAA	0.388																																						ENST00000329434.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22						c.(454-456)gcT>gcC		olfactory receptor, family 5, subfamily P, member 2							61.0	73.0	69.0					11																	7818034		2098	4292	6390	SO:0001819	synonymous_variant	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7818034A>G	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.456T>C	11.37:g.7818034A>G						RP11-35J10.5_ENST00000527565.1_lincRNA	p.A152A	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	486	-			152					Q3MIS8	Silent	SNP	ENST00000329434.2	37	c.456T>C	CCDS7782.1																																																																																				0.388	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		31	44	0	0	0	0.002096	0	31	44				
LRP4	4038	broad.mit.edu	37	11	46908046	46908046	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:46908046T>C	ENST00000378623.1	-	17	2496	c.2254A>G	c.(2254-2256)Atc>Gtc	p.I752V		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	752					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ATTCGACGGATGTCCATCCTT	0.517																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(2254-2256)Atc>Gtc		low density lipoprotein receptor-related protein 4							83.0	67.0	73.0					11																	46908046		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46908046T>C	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2254A>G	11.37:g.46908046T>C	ENSP00000367888:p.Ile752Val						p.I752V	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	17	2496	-			752					B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.2254A>G	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.724776	0.89298	.	.	ENSG00000134569	ENST00000378623	D	0.91996	-2.95	5.48	5.48	0.80851	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.89767	0.6810	L	0.49350	1.555	0.80722	D	1	B	0.33103	0.397	B	0.33799	0.17	D	0.88573	0.3131	10	0.40728	T	0.16	.	15.5763	0.76392	0.0:0.0:0.0:1.0	.	752	O75096	LRP4_HUMAN	V	752	ENSP00000367888:I752V	ENSP00000367888:I752V	I	-	1	0	LRP4	46864622	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.671000	0.83941	2.089000	0.63090	0.459000	0.35465	ATC		0.517	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		25	34	0	0	0	0.006320	0	25	34				
CROCCP2	84809	broad.mit.edu	37	1	16945358	16945358	+	lincRNA	SNP	G	G	C	rs945905	byFrequency	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:16945358G>C	ENST00000412962.1	-	0	2161				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGTAGGAGAAGAGAGAGGAAG	0.567																																						ENST00000412962.1																			0																																																			84809							g.chr1:16945358G>C	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945358G>C														0	2161	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.567	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		6	8	0	0	0	0.001168	0	6	8				
CCDC150	284992	broad.mit.edu	37	2	197538986	197538986	+	Missense_Mutation	SNP	A	A	G	rs36060491		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:197538986A>G	ENST00000389175.4	+	10	1186	c.1051A>G	c.(1051-1053)Aaa>Gaa	p.K351E	CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000423093.2_Missense_Mutation_p.K19E|CCDC150_ENST00000272831.7_Missense_Mutation_p.K19E	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	351										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CCAATTGACTAAAAAGTGTTC	0.343																																						ENST00000389175.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1051-1053)Aaa>Gaa		coiled-coil domain containing 150							85.0	85.0	85.0					2																	197538986		1891	4121	6012	SO:0001583	missense	284992							g.chr2:197538986A>G		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1051A>G	2.37:g.197538986A>G	ENSP00000373827:p.Lys351Glu					CCDC150_ENST00000423093.2_Missense_Mutation_p.K19E|CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000272831.7_Missense_Mutation_p.K19E	p.K351E	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			10	1186	+			351					Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.1051A>G	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.021320	0.00414	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000423093	T	0.36878	1.23	5.17	4.0	0.46444	.	0.952786	0.08687	N	0.908552	T	0.31071	0.0785	L	0.44542	1.39	0.09310	N	1	B;B	0.19200	0.034;0.034	B;B	0.22601	0.04;0.04	T	0.32640	-0.9899	10	0.16420	T	0.52	-0.0244	9.4296	0.38601	0.6501:0.3499:0.0:0.0	.	19;351	B4DZ03;Q8NCX0	.;CC150_HUMAN	E	19;351;19	ENSP00000373827:K351E	ENSP00000272831:K19E	K	+	1	0	CCDC150	197247231	0.012000	0.17670	0.003000	0.11579	0.093000	0.18481	2.256000	0.43231	0.958000	0.37956	0.482000	0.46254	AAA		0.343	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		7	9	0	0	0	0.001984	0	7	9				
CYP11B2	1585	broad.mit.edu	37	8	143994844	143994844	+	Silent	SNP	C	C	A	rs374863640		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:143994844C>A	ENST00000323110.2	-	6	980	c.978G>T	c.(976-978)acG>acT	p.T326T		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	326					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GCTCAAAGAGCGTCATCAGCA	0.622									Familial Hyperaldosteronism type I																													ENST00000323110.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39						c.(976-978)acG>acT		cytochrome P450, family 11, subfamily B, polypeptide 2	Candesartan(DB00796)|Metyrapone(DB01011)						77.0	74.0	75.0					8																	143994844		2203	4300	6503	SO:0001819	synonymous_variant	1585	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143994844C>A	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.978G>T	8.37:g.143994844C>A							p.T326T	NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN			6	980	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		326					B0ZBE4|Q16726	Silent	SNP	ENST00000323110.2	37	c.978G>T	CCDS6393.1																																																																																				0.622	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			27	151	1	0	3.73148e-12	0.007291	5.08178e-12	27	151				
ARHGAP17	55114	broad.mit.edu	37	16	24980081	24980081	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:24980081C>A	ENST00000289968.6	-	5	354	c.285G>T	c.(283-285)gaG>gaT	p.E95D	ARHGAP17_ENST00000441763.2_Missense_Mutation_p.E95D|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E95D|ARHGAP17_ENST00000575975.1_5'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	95	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CTCCACACGTCTCCAGCATCT	0.507																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(283-285)gaG>gaT		Rho GTPase activating protein 17							75.0	64.0	68.0					16																	24980081		2197	4300	6497	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24980081C>A	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.285G>T	16.37:g.24980081C>A	ENSP00000289968:p.Glu95Asp					ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E95D|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.E95D	p.E95D	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	5	354	-			95			BAR.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.285G>T	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.394171	0.42410	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000441763;ENST00000455311	T;T;T	0.66460	-0.21;-0.21;-0.21	5.85	3.85	0.44370	BAR (3);	0.000000	0.44483	D	0.000445	T	0.48624	0.1510	L	0.37561	1.115	0.33056	D	0.533485	B;B;P;B	0.35155	0.005;0.023;0.487;0.046	B;B;B;B	0.31869	0.018;0.078;0.122;0.137	T	0.55023	-0.8205	10	0.17369	T	0.5	.	7.2291	0.26033	0.0:0.6987:0.1431:0.1582	.	95;95;95;95	Q68EM7-4;C9IZD3;Q68EM7-2;Q68EM7	.;.;.;RHG17_HUMAN	D	95	ENSP00000289968:E95D;ENSP00000303130:E95D;ENSP00000406950:E95D	ENSP00000289968:E95D	E	-	3	2	ARHGAP17	24887582	0.971000	0.33674	1.000000	0.80357	0.993000	0.82548	0.116000	0.15561	1.591000	0.50007	0.643000	0.83706	GAG		0.507	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		27	38	1	0	2.41591e-17	0.004656	3.53794e-17	27	38				
SLC15A1	6564	broad.mit.edu	37	13	99364806	99364806	+	Silent	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr13:99364806A>G	ENST00000376503.5	-	10	811	c.756T>C	c.(754-756)agT>agC	p.S252S		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	252					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GAAATGCCTTACTCCGATGCC	0.433																																						ENST00000376503.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(754-756)agT>agC		solute carrier family 15 (oligopeptide transporter), member 1	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						123.0	117.0	119.0					13																	99364806		2203	4300	6503	SO:0001819	synonymous_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99364806A>G	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.756T>C	13.37:g.99364806A>G							p.S252S	NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN			10	811	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		252					Q5VW82	Silent	SNP	ENST00000376503.5	37	c.756T>C	CCDS9489.1																																																																																				0.433	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		37	92	0	0	0	0.007835	0	37	92				
COX10	1352	broad.mit.edu	37	17	13977709	13977709	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:13977709A>G	ENST00000261643.3	+	2	190	c.113A>G	c.(112-114)cAt>cGt	p.H38R	COX10_ENST00000429152.2_Missense_Mutation_p.H38R|COX10_ENST00000536205.1_5'UTR|COX10_ENST00000537334.1_5'UTR	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	38					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		AAGTTCTTACATCTTCTCAGG	0.403																																						ENST00000261643.3																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(112-114)cAt>cGt		cytochrome c oxidase assembly homolog 10 (yeast)							175.0	171.0	172.0					17																	13977709		2203	4300	6503	SO:0001583	missense	1352				heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	g.chr17:13977709A>G	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.113A>G	17.37:g.13977709A>G	ENSP00000261643:p.His38Arg					COX10_ENST00000537334.1_5'UTR|COX10_ENST00000536205.1_5'UTR|COX10_ENST00000429152.2_Missense_Mutation_p.H38R	p.H38R	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	2	190	+		all_lung(20;0.06)|Lung SC(565;0.168)	38					B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	37	c.113A>G	CCDS11166.1	.	.	.	.	.	.	.	.	.	.	A	7.978	0.750463	0.15778	.	.	ENSG00000006695	ENST00000261643	T	0.34275	1.37	5.14	-4.5	0.03493	.	0.404866	0.28225	N	0.016139	T	0.24774	0.0601	L	0.40543	1.245	0.21386	N	0.999709	B	0.02656	0.0	B	0.04013	0.001	T	0.14282	-1.0478	10	0.23302	T	0.38	-20.3785	14.9871	0.71356	0.3877:0.0:0.6123:0.0	.	38	Q12887	COX10_HUMAN	R	38	ENSP00000261643:H38R	ENSP00000261643:H38R	H	+	2	0	COX10	13918434	0.003000	0.15002	0.003000	0.11579	0.938000	0.57974	0.010000	0.13242	-1.002000	0.03429	0.528000	0.53228	CAT		0.403	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		63	95	0	0	0	0.003610	0	63	95				
TTN	7273	broad.mit.edu	37	2	179465721	179465721	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:179465721C>A	ENST00000591111.1	-	238	51211	c.50987G>T	c.(50986-50988)cGt>cTt	p.R16996L	TTN_ENST00000460472.2_Missense_Mutation_p.R9572L|TTN_ENST00000359218.5_Missense_Mutation_p.R9697L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9764L|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18637L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R16069L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16996	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCACATCACGCTTATTGCA	0.488																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(55909-55911)cGt>cTt		titin							148.0	156.0	153.0					2																	179465721		2170	4281	6451	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179465721C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50987G>T	2.37:g.179465721C>A	ENSP00000465570:p.Arg16996Leu					TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9764L|TTN_ENST00000342992.6_Missense_Mutation_p.R16069L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16996L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9697L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9572L	p.R18637L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	56134	-			16996			Fibronectin type-III 35.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.55910G>T		.	.	.	.	.	.	.	.	.	.	C	16.16	3.045832	0.55110	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65883	0.2734	L	0.35341	1.055	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.67397	-0.5681	9	0.87932	D	0	.	20.0781	0.97751	0.0:1.0:0.0:0.0	.	9572;9697;9764;16996	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	16069;9572;9764;9697;9572	ENSP00000343764:R16069L;ENSP00000434586:R9572L;ENSP00000340554:R9764L;ENSP00000352154:R9697L	ENSP00000340554:R9764L	R	-	2	0	TTN	179173966	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.520000	0.81821	2.817000	0.96982	0.563000	0.77884	CGT		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		138	102	1	0	2.82259e-58	0.003610	4.70432e-58	138	102				
OR5H1	26341	broad.mit.edu	37	3	97852283	97852283	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:97852283G>T	ENST00000354565.2	+	1	742	c.742G>T	c.(742-744)Gtc>Ttc	p.V248F	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TCTCTTCTCTGTCTCTTTATA	0.413																																						ENST00000354565.2																			0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(742-744)Gtc>Ttc		olfactory receptor, family 5, subfamily H, member 1							126.0	136.0	132.0					3																	97852283		2203	4299	6502	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852283G>T	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.742G>T	3.37:g.97852283G>T	ENSP00000346575:p.Val248Phe					RP11-343D2.11_ENST00000508964.1_RNA	p.V248F	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN			1	742	+			248						Missense_Mutation	SNP	ENST00000354565.2	37	c.742G>T	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	G	9.026	0.986204	0.18889	.	.	ENSG00000231192	ENST00000354565	T	0.00354	7.93	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	D	0.000699	T	0.01222	0.0040	H	0.95437	3.67	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.10520	-1.0626	10	0.87932	D	0	.	12.6623	0.56822	0.0:0.0:1.0:0.0	.	248	A6NKK0	OR5H1_HUMAN	F	248	ENSP00000346575:V248F	ENSP00000346575:V248F	V	+	1	0	OR5H1	99334973	0.991000	0.36638	0.562000	0.28370	0.015000	0.08874	2.239000	0.43079	1.818000	0.53035	0.195000	0.17529	GTC		0.413	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		45	160	1	0	3.7052e-28	0.003214	5.86797e-28	45	160				
IVNS1ABP	10625	broad.mit.edu	37	1	185276680	185276680	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:185276680G>C	ENST00000367498.3	-	6	1094	c.472C>G	c.(472-474)Cag>Gag	p.Q158E	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	158	BACK.				negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						AAATGCTCCTGAATATAAGCA	0.363																																						ENST00000367498.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						c.(472-474)Cag>Gag		influenza virus NS1A binding protein							73.0	76.0	75.0					1																	185276680		2203	4299	6502	SO:0001583	missense	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185276680G>C	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.472C>G	1.37:g.185276680G>C	ENSP00000356468:p.Gln158Glu					IVNS1ABP_ENST00000392007.3_5'UTR|IVNS1ABP_ENST00000459929.1_5'UTR	p.Q158E	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN			6	1094	-			158			BACK.		A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.472C>G	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973951	0.74246	.	.	ENSG00000116679	ENST00000367498;ENST00000422754	T;T	0.68025	-0.3;-0.3	5.61	5.61	0.85477	BTB/Kelch-associated (2);	0.053515	0.85682	D	0.000000	T	0.72120	0.3421	N	0.21373	0.66	0.80722	D	1	D	0.63046	0.992	D	0.76071	0.987	T	0.67810	-0.5574	10	0.23302	T	0.38	.	19.6342	0.95722	0.0:0.0:1.0:0.0	.	158	Q9Y6Y0	NS1BP_HUMAN	E	158;39	ENSP00000356468:Q158E;ENSP00000401826:Q39E	ENSP00000356468:Q158E	Q	-	1	0	IVNS1ABP	183543303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.652000	0.98499	2.653000	0.90120	0.591000	0.81541	CAG		0.363	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		25	70	0	0	0	0.004656	0	25	70				
APOB	338	broad.mit.edu	37	2	21228818	21228818	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:21228818G>T	ENST00000233242.1	-	26	11049	c.10922C>A	c.(10921-10923)tCt>tAt	p.S3641Y		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3641					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAAGACCCAGAATGAATCCG	0.463																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(10921-10923)tCt>tAt		apolipoprotein B	Atorvastatin(DB01076)						59.0	58.0	58.0					2																	21228818		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228818G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10922C>A	2.37:g.21228818G>T	ENSP00000233242:p.Ser3641Tyr						p.S3641Y	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	11049	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3641					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.10922C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165586	0.38217	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.73363	-0.74	5.75	2.77	0.32553	.	0.395313	0.21995	N	0.066092	D	0.82866	0.5130	M	0.73962	2.25	0.23720	N	0.99703	D	0.76494	0.999	D	0.74674	0.984	T	0.73040	-0.4108	10	0.87932	D	0	.	8.5102	0.33213	0.0745:0.0:0.6541:0.2714	.	3641	P04114	APOB_HUMAN	Y	3641	ENSP00000233242:S3641Y	ENSP00000233242:S3641Y	S	-	2	0	APOB	21082323	0.033000	0.19621	0.000000	0.03702	0.478000	0.33099	2.184000	0.42575	0.262000	0.21774	0.655000	0.94253	TCT		0.463	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			14	26	1	0	1.5842e-08	0.001855	2.04602e-08	14	26				
ERICH3	127254	broad.mit.edu	37	1	75037100	75037100	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:75037100C>A	ENST00000326665.5	-	14	4512	c.4294G>T	c.(4294-4296)Ggc>Tgc	p.G1432C	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1432	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTGGAGTGCCCACCCCAGCC	0.612																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(4294-4296)Ggc>Tgc		chromosome 1 open reading frame 173							102.0	105.0	104.0					1																	75037100		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037100C>A																												ENST00000326665.5:c.4294G>T	1.37:g.75037100C>A	ENSP00000322609:p.Gly1432Cys					C1orf173_ENST00000433746.2_5'UTR	p.G1432C	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	4512	-			1432			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.4294G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.415054	0.42817	.	.	ENSG00000178965	ENST00000326665	T	0.12147	2.71	4.73	1.78	0.24846	.	.	.	.	.	T	0.06872	0.0175	N	0.19112	0.55	0.09310	N	1	D	0.69078	0.997	P	0.60473	0.875	T	0.17137	-1.0379	9	0.54805	T	0.06	-0.747	4.7153	0.12893	0.0:0.5636:0.1578:0.2786	.	1432	Q5RHP9	CA173_HUMAN	C	1432	ENSP00000322609:G1432C	ENSP00000322609:G1432C	G	-	1	0	C1orf173	74809688	0.000000	0.05858	0.003000	0.11579	0.018000	0.09664	0.238000	0.18004	0.426000	0.26116	0.561000	0.74099	GGC		0.612	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			58	33	1	0	2.43698e-19	0.003610	3.67648e-19	58	33				
CSMD3	114788	broad.mit.edu	37	8	113697930	113697930	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:113697930C>A	ENST00000297405.5	-	15	2431	c.2187G>T	c.(2185-2187)atG>atT	p.M729I	CSMD3_ENST00000455883.2_Missense_Mutation_p.M625I|CSMD3_ENST00000352409.3_Missense_Mutation_p.M729I|CSMD3_ENST00000343508.3_Missense_Mutation_p.M689I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	729	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAACTGTTCCCATTGGTGCAG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(2185-2187)atG>atT		CUB and Sushi multiple domains 3							72.0	80.0	77.0					8																	113697930		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113697930C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2187G>T	8.37:g.113697930C>A	ENSP00000297405:p.Met729Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.M625I|CSMD3_ENST00000343508.3_Missense_Mutation_p.M689I|CSMD3_ENST00000352409.3_Missense_Mutation_p.M729I	p.M729I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			15	2431	-			729			CUB 4.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2187G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251803	0.59212	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	5.72	5.72	0.89469	CUB (5);	0.118364	0.52532	D	0.000074	T	0.19366	0.0465	N	0.14661	0.345	0.33814	D	0.628217	P;P;P	0.51147	0.69;0.562;0.942	B;P;P	0.51582	0.333;0.545;0.674	T	0.07252	-1.0782	10	0.27785	T	0.31	.	19.8753	0.96867	0.0:1.0:0.0:0.0	.	625;729;689	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	689;729;69;625;729	ENSP00000345799:M689I;ENSP00000297405:M729I;ENSP00000341558:M69I;ENSP00000412263:M625I;ENSP00000343124:M729I	ENSP00000297405:M729I	M	-	3	0	CSMD3	113767106	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.390000	0.44416	2.711000	0.92665	0.655000	0.94253	ATG		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		27	64	1	0	1.74197e-06	0.006320	2.16202e-06	27	64				
PMFBP1	83449	broad.mit.edu	37	16	72188112	72188112	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:72188112C>T	ENST00000237353.10	-	4	673	c.412G>A	c.(412-414)Gag>Aag	p.E138K	PMFBP1_ENST00000537465.1_Missense_Mutation_p.E138K|PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000543746.1_5'Flank	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	138						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GTCTATACCTCATCTTCTTTC	0.463																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(412-414)Gag>Aag		polyamine modulated factor 1 binding protein 1							150.0	143.0	145.0					16																	72188112		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72188112C>T	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.412G>A	16.37:g.72188112C>T	ENSP00000237353:p.Glu138Lys					PMFBP1_ENST00000237353.10_Missense_Mutation_p.E138K|PMFBP1_ENST00000355636.6_5'UTR	p.E138K			Q8TBY8	PMFBP_HUMAN			4	570	-		Ovarian(137;0.179)	138					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.412G>A	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885033	0.91814	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000535461	T;T	0.80033	-1.33;-1.33	5.63	5.63	0.86233	.	0.000000	0.49916	D	0.000122	D	0.82715	0.5097	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82024	-0.0662	10	0.37606	T	0.19	-27.9575	15.1899	0.73035	0.0:1.0:0.0:0.0	.	138;138	Q8TBY8-2;G3V1Q7	.;.	K	138	ENSP00000443817:E138K;ENSP00000237353:E138K	ENSP00000237353:E138K	E	-	1	0	PMFBP1	70745613	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.761000	0.55242	2.669000	0.90835	0.655000	0.94253	GAG		0.463	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		42	68	0	0	0	0.002522	0	42	68				
MUC16	94025	broad.mit.edu	37	19	9000496	9000496	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:9000496C>A	ENST00000397910.4	-	54	40691	c.40488G>T	c.(40486-40488)atG>atT	p.M13496I	MUC16_ENST00000380951.5_Missense_Mutation_p.M137I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13498	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						CAGGGTGATGCATGTTCTCCT	0.478																																						ENST00000397910.4																			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.(40486-40488)atG>atT		mucin 16, cell surface associated							190.0	162.0	171.0					19																	9000496		1992	4158	6150	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9000496C>A	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.40488G>T	19.37:g.9000496C>A	ENSP00000381008:p.Met13496Ile					MUC16_ENST00000380951.5_Missense_Mutation_p.M137I	p.M13496I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			54	40691	-			13498			SEA 10.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.40488G>T	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.82|12.82	2.053882|2.053882	0.36277|0.36277	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.43294	.|0.95;0.95	2.9|2.9	2.9|2.9	0.33743|0.33743	.|SEA (3);	.|.	.|.	.|.	.|.	T|T	0.62696|0.62696	0.2449|0.2449	M|M	0.83692|0.83692	2.655|2.655	.|.	.|.	.|.	.|P;B	.|0.47677	.|0.899;0.115	.|D;P	.|0.67231	.|0.95;0.593	T|T	0.72178|0.72178	-0.4369|-0.4369	4|8	.|0.51188	.|T	.|0.08	-25.5947|-25.5947	9.3576|9.3576	0.38175|0.38175	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|21141;13496	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	F|I	336|13496;137	.|ENSP00000381008:M13496I;ENSP00000370338:M137I	.|ENSP00000370338:M137I	C|M	-|-	2|3	0|0	MUC16|MUC16	8861496|8861496	0.732000|0.732000	0.28121|0.28121	0.028000|0.028000	0.17463|0.17463	0.005000|0.005000	0.04900|0.04900	1.799000|1.799000	0.38824|0.38824	1.626000|1.626000	0.50381|0.50381	0.305000|0.305000	0.20034|0.20034	TGC|ATG		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		33	66	1	0	9.65021e-13	0.002096	1.32975e-12	33	66				
HMCN1	83872	broad.mit.edu	37	1	185946936	185946936	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:185946936C>T	ENST00000271588.4	+	16	2618	c.2389C>T	c.(2389-2391)Caa>Taa	p.Q797*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.Q797*|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	797	Ig-like C2-type 5.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGTTTTCATACAAGAACCTGC	0.343																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(2389-2391)Caa>Taa		hemicentin 1							148.0	132.0	137.0					1																	185946936		2203	4300	6503	SO:0001587	stop_gained	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185946936C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2389C>T	1.37:g.185946936C>T	ENSP00000271588:p.Gln797*					HMCN1_ENST00000367492.2_Nonsense_Mutation_p.Q797*|HMCN1_ENST00000485744.1_3'UTR	p.Q797*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			16	2618	+			797			Ig-like C2-type 5.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	c.2389C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	41	9.012301	0.99035	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.89	5.89	0.94794	.	0.173959	0.51477	D	0.000087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2576	0.98430	0.0:1.0:0.0:0.0	.	.	.	.	X	797	.	ENSP00000271588:Q797X	Q	+	1	0	HMCN1	184213559	0.997000	0.39634	1.000000	0.80357	0.920000	0.55202	3.847000	0.55895	2.783000	0.95769	0.655000	0.94253	CAA		0.343	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		49	61	0	0	0	0.003610	0	49	61				
ROS1	6098	broad.mit.edu	37	6	117709005	117709005	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:117709005G>A	ENST00000368508.3	-	13	2150	c.1952C>T	c.(1951-1953)gCa>gTa	p.A651V	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.A646V	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	651	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGGAGAACTTGCTCTCACAGA	0.488			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(1951-1953)gCa>gTa		c-ros oncogene 1 , receptor tyrosine kinase							125.0	125.0	125.0					6																	117709005		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117709005G>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1952C>T	6.37:g.117709005G>A	ENSP00000357494:p.Ala651Val					GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.A646V	p.A651V	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	13	2150	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	651			Fibronectin type-III 3.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.1952C>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288334	0.80803	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;T	0.94497	-3.44;-0.43	5.24	4.35	0.52113	.	0.191954	0.36591	N	0.002508	D	0.93812	0.8021	M	0.62723	1.935	0.80722	D	1	D	0.56968	0.978	P	0.53360	0.724	D	0.94090	0.7352	10	0.87932	D	0	.	12.2325	0.54497	0.0842:0.0:0.9158:0.0	.	651	P08922	ROS1_HUMAN	V	651;646	ENSP00000357494:A651V;ENSP00000357493:A646V	ENSP00000357493:A646V	A	-	2	0	ROS1	117815698	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.463000	0.66712	2.630000	0.89119	0.561000	0.74099	GCA		0.488	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			50	70	0	0	0	0.003610	0	50	70				
DMD	1756	broad.mit.edu	37	X	32404497	32404497	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:32404497G>T	ENST00000357033.4	-	33	4810	c.4604C>A	c.(4603-4605)aCg>aAg	p.T1535K	DMD_ENST00000378677.2_Missense_Mutation_p.T1531K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1535	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGGATTTTCCGTCTGCTTTTT	0.383																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(4603-4605)aCg>aAg		dystrophin							225.0	189.0	201.0					X																	32404497		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32404497G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4604C>A	X.37:g.32404497G>T	ENSP00000354923:p.Thr1535Lys					DMD_ENST00000378677.2_Missense_Mutation_p.T1531K	p.T1535K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			33	4810	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1535			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.4604C>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	34	5.347640	0.95807	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.61859	0.07;0.07	5.71	5.71	0.89125	.	0.000000	0.38058	U	0.001840	T	0.76644	0.4016	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.988;1.0;1.0;1.0	D;P;D;D;D	0.87578	0.998;0.753;0.997;0.997;0.997	T	0.75036	-0.3459	10	0.36615	T	0.2	.	18.8699	0.92309	0.0:0.0:1.0:0.0	.	1527;1535;1531;194;191	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	K	1527;194;191;1531;1535;1535;1412	ENSP00000367948:T1531K;ENSP00000354923:T1535K	ENSP00000354923:T1535K	T	-	2	0	DMD	32314418	1.000000	0.71417	0.955000	0.39395	0.974000	0.67602	9.869000	0.99810	2.402000	0.81655	0.600000	0.82982	ACG		0.383	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		49	13	1	0	2.43139e-17	0.003610	3.54578e-17	49	13				
ZNF560	147741	broad.mit.edu	37	19	9577562	9577562	+	Silent	SNP	G	G	A	rs368872787		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:9577562G>A	ENST00000301480.4	-	10	2274	c.2061C>T	c.(2059-2061)aaC>aaT	p.N687N		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	687					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTCCACATGCGTTACATTCAG	0.373																																						ENST00000301480.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(2059-2061)aaC>aaT		zinc finger protein 560		A		0,4406		0,0,2203	126.0	129.0	128.0		2061	-3.0	0.0	19		128	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous	ZNF560	NM_152476.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		687/791	9577562	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9577562G>A	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.2061C>T	19.37:g.9577562G>A							p.N687N	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			10	2274	-			687					Q495S9|Q495T1	Silent	SNP	ENST00000301480.4	37	c.2061C>T	CCDS12214.1																																																																																				0.373	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		69	111	0	0	0	0.003610	0	69	111				
NUDT9	53343	broad.mit.edu	37	4	88344060	88344060	+	Start_Codon_SNP	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr4:88344060G>A	ENST00000302174.4	+	1	327	c.3G>A	c.(1-3)atG>atA	p.M1I	NUDT9_ENST00000473942.1_Intron	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	1					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		GGGCGCTCATGGCGGGACGCC	0.672																																						ENST00000302174.4																			0				endometrium(1)|large_intestine(4)|lung(6)	11						c.(1-3)atG>atA		nudix (nucleoside diphosphate linked moiety X)-type motif 9							57.0	63.0	61.0					4																	88344060		2203	4300	6503	SO:0001582	initiator_codon_variant	53343					mitochondrion	ADP-ribose diphosphatase activity	g.chr4:88344060G>A	AY026252	CCDS3620.1, CCDS3621.1	4q22.1	2008-08-29			ENSG00000170502	ENSG00000170502		"""Nudix motif containing"""	8056	protein-coding gene	gene with protein product		606022				11385575, 12427752	Standard	NM_024047		Approved	MGC3037	uc003hqq.3	Q9BW91	OTTHUMG00000130591	ENST00000302174.4:c.3G>A	4.37:g.88344060G>A	ENSP00000303575:p.Met1Ile					NUDT9_ENST00000473942.1_Intron	p.M1I	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000937)	1	327	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1					Q8NBN1|Q8NCB9|Q8NG25	Translation_Start_Site	SNP	ENST00000302174.4	37	c.3G>A	CCDS3620.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098427	0.56183	.	.	ENSG00000170502	ENST00000302174;ENST00000440591	T;T	0.18016	2.48;2.24	4.26	4.26	0.50523	.	0.107922	0.64402	D	0.000011	T	0.33352	0.0860	.	.	.	0.80722	D	1	P;P	0.45126	0.851;0.851	P;P	0.55391	0.775;0.775	T	0.05402	-1.0887	9	0.87932	D	0	-17.7439	12.3707	0.55254	0.0:0.0:1.0:0.0	.	1;1	Q96KB3;Q9BW91	.;NUDT9_HUMAN	I	1	ENSP00000303575:M1I;ENSP00000410270:M1I	ENSP00000303575:M1I	M	+	3	0	NUDT9	88563084	1.000000	0.71417	1.000000	0.80357	0.108000	0.19459	4.130000	0.57964	2.356000	0.79943	0.585000	0.79938	ATG		0.672	NUDT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253035.2		Missense_Mutation	32	52	0	0	0	0.001786	0	32	52				
ROS1	6098	broad.mit.edu	37	6	117683782	117683782	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:117683782C>A	ENST00000368508.3	-	21	3563	c.3365G>T	c.(3364-3366)tGc>tTc	p.C1122F	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.C1117F	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1122	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGCAATAAAGCATCTGGGACT	0.408			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(3364-3366)tGc>tTc		c-ros oncogene 1 , receptor tyrosine kinase							107.0	95.0	99.0					6																	117683782		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117683782C>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3365G>T	6.37:g.117683782C>A	ENSP00000357494:p.Cys1122Phe					GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.C1117F	p.C1122F	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	21	3563	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1122			Fibronectin type-III 5.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.3365G>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.050180	0.00394	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.56776	0.44;0.44	5.03	1.25	0.21368	.	0.700302	0.13472	N	0.385352	T	0.10121	0.0248	N	0.22421	0.69	0.09310	N	0.999999	B	0.18013	0.025	B	0.16722	0.016	T	0.28427	-1.0044	10	0.10377	T	0.69	.	1.0487	0.01575	0.1408:0.1877:0.2856:0.3859	.	1122	P08922	ROS1_HUMAN	F	1122;1117	ENSP00000357494:C1122F;ENSP00000357493:C1117F	ENSP00000357493:C1117F	C	-	2	0	ROS1	117790475	0.007000	0.16637	0.258000	0.24420	0.072000	0.16883	1.061000	0.30542	0.110000	0.17919	0.655000	0.94253	TGC		0.408	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			12	26	1	0	0.00010058	0.001368	0.00012181	12	26				
CFAP43	80217	broad.mit.edu	37	10	105893540	105893540	+	Silent	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:105893540A>G	ENST00000357060.3	-	35	4549	c.4434T>C	c.(4432-4434)acT>acC	p.T1478T	WDR96_ENST00000479392.1_5'UTR|WDR96_ENST00000428666.1_Silent_p.T1450T	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTTGTCCTTGAGTCTTTAAAA	0.318																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4432-4434)acT>acC		WD repeat domain 96							115.0	108.0	111.0					10																	105893540		2203	4300	6503	SO:0001819	synonymous_variant	80217							g.chr10:105893540A>G																												ENST00000357060.3:c.4434T>C	10.37:g.105893540A>G						WDR96_ENST00000428666.1_Silent_p.T1450T|WDR96_ENST00000479392.1_5'UTR	p.T1478T	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			35	4549	-			1478						Silent	SNP	ENST00000357060.3	37	c.4434T>C	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	A	10.55	1.380359	0.24944	.	.	ENSG00000197748	ENST00000457071;ENST00000434629	.	.	.	5.4	0.0471	0.14279	.	.	.	.	.	T	0.45418	0.1341	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25572	-1.0128	4	.	.	.	.	4.3542	0.11170	0.5735:0.0:0.1777:0.2488	.	.	.	.	P	327;810	.	.	L	-	2	0	WDR96	105883530	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	1.569000	0.36428	0.017000	0.15025	-0.341000	0.08007	CTC		0.318	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				15	31	0	0	0	0.004007	0	15	31				
NUP210L	91181	broad.mit.edu	37	1	154034118	154034118	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:154034118C>T	ENST00000368559.3	-	18	2658	c.2587G>A	c.(2587-2589)Ggg>Agg	p.G863R	NUP210L_ENST00000271854.3_Missense_Mutation_p.G863R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	863					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTACAGTCCCTTTTATCTGA	0.338																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(2587-2589)Ggg>Agg		nucleoporin 210kDa-like							76.0	69.0	71.0					1																	154034118		1814	4072	5886	SO:0001583	missense	91181					integral to membrane		g.chr1:154034118C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2587G>A	1.37:g.154034118C>T	ENSP00000357547:p.Gly863Arg					NUP210L_ENST00000271854.3_Missense_Mutation_p.G863R	p.G863R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		18	2658	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		863					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.2587G>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998277	0.74818	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.09723	3.18;2.95	4.53	4.53	0.55603	.	0.000000	0.56097	D	0.000031	T	0.24547	0.0595	M	0.74647	2.275	0.49483	D	0.999793	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00790	-1.1565	10	0.62326	D	0.03	-10.0306	14.6436	0.68742	0.0:1.0:0.0:0.0	.	863;863	E7EP56;Q5VU65	.;P210L_HUMAN	R	863	ENSP00000357547:G863R;ENSP00000271854:G863R	ENSP00000271854:G863R	G	-	1	0	NUP210L	152300742	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.377000	0.59562	2.518000	0.84900	0.650000	0.86243	GGG		0.338	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		27	53	0	0	0	0.002836	0	27	53				
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473030	22473030	+	RNA	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:22473030G>T	ENST00000557788.2	-	0	240							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											TTGAGGGACGGGTTGTAGTTG	0.567																																						ENST00000557788.2																			0																																																			28317							g.chr15:22473030G>T	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22473030G>T														0	240	-									RNA	SNP	ENST00000557788.2	37																																																																																						0.567	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			65	159	1	0	6.20203e-27	0.003610	9.73413e-27	65	159				
CLCNKA	1187	broad.mit.edu	37	1	16358311	16358311	+	Missense_Mutation	SNP	A	A	G	rs139001368	byFrequency	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:16358311A>G	ENST00000331433.4	+	16	1748	c.1729A>G	c.(1729-1731)Acc>Gcc	p.T577A	CLCNKA_ENST00000439316.2_Missense_Mutation_p.T534A|CLCNKA_ENST00000375692.1_Missense_Mutation_p.T577A|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.T577A			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	577	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CACAGACGTGACCGAGTATCC	0.607																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(1729-1731)Acc>Gcc		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)	G	ALA/THR,ALA/THR	1,4403		0,1,2201	114.0	83.0	94.0		1729,1729	2.1	0.0	1	dbSNP_134	94	1,8599	818.2+/-406.9	0,1,4299	no	missense,missense	CLCNKA	NM_001042704.1,NM_004070.3	58,58	0,2,6500	GG,GA,AA		0.0116,0.0227,0.0154	benign,benign	577/687,577/688	16358311	2,13002	2202	4300	6502	SO:0001583	missense	1187				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16358311A>G		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1729A>G	1.37:g.16358311A>G	ENSP00000332771:p.Thr577Ala					CLCNKA_ENST00000331433.4_Missense_Mutation_p.T577A|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.T534A|CLCNKA_ENST00000420078.1_Missense_Mutation_p.T577A	p.T577A			P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	17	1857	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	577			CBS 1.		B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.1729A>G	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	0.517	-0.863924	0.02590	2.27E-4	1.16E-4	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	4.09	2.11	0.27256	Cystathionine beta-synthase, core (3);	1.071180	0.07088	N	0.838279	T	0.66674	0.2813	N	0.01267	-0.92	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.54443	-0.8293	10	0.23891	T	0.37	.	6.5184	0.22260	0.3459:0.0:0.6541:0.0	.	534;577;577	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	A	577;577;534;577	ENSP00000364844:T577A;ENSP00000410353:T577A;ENSP00000414445:T534A;ENSP00000332771:T577A	ENSP00000332771:T577A	T	+	1	0	CLCNKA	16230898	0.000000	0.05858	0.021000	0.16686	0.139000	0.21198	-0.957000	0.03861	-0.016000	0.14127	-0.642000	0.03964	ACC		0.607	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			4	41	0	0	0	0.006214	0	4	41				
STIL	6491	broad.mit.edu	37	1	47717390	47717390	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:47717390G>A	ENST00000360380.3	-	18	3645	c.3282C>T	c.(3280-3282)agC>agT	p.S1094S	STIL_ENST00000243182.6_Silent_p.S1094S|STIL_ENST00000396221.2_Silent_p.S1077S|STIL_ENST00000371877.3_Silent_p.S1095S|STIL_ENST00000337817.5_Silent_p.S1094S	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1094					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TATGGAGAAGGCTGAATGGGT	0.373																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(3280-3282)agC>agT		SCL/TAL1 interrupting locus							154.0	160.0	158.0					1																	47717390		2203	4300	6503	SO:0001819	synonymous_variant	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47717390G>A	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.3282C>T	1.37:g.47717390G>A						STIL_ENST00000371877.3_Silent_p.S1095S|STIL_ENST00000243182.6_Silent_p.S1094S|STIL_ENST00000337817.5_Silent_p.S1094S|STIL_ENST00000396221.2_Silent_p.S1077S	p.S1094S			Q15468	STIL_HUMAN			18	3645	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	1094					Q5T0C5|Q68CN9	Silent	SNP	ENST00000360380.3	37	c.3282C>T	CCDS548.1																																																																																				0.373	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		69	42	0	0	0	0.003610	0	69	42				
IGKV1D-16	28901	broad.mit.edu	37	2	90139424	90139424	+	RNA	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:90139424C>A	ENST00000492446.1	+	0	222									immunoglobulin kappa variable 1D-16																		CAGAGAAAGCCCCTAAGTCCC	0.522																																						ENST00000492446.1																			0																				159.0	166.0	164.0					2																	90139424		1927	4147	6074			28901							g.chr2:90139424C>A	K01323		2p11.2	2012-02-08			ENSG00000241244	ENSG00000241244		"""Immunoglobulins / IGK locus"""	5748	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151569		2.37:g.90139424C>A														0	222	+									RNA	SNP	ENST00000492446.1	37																																																																																						0.522	IGKV1D-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323144.2	NG_000833		103	218	1	0	3.52173e-36	0.003610	5.81417e-36	103	218				
OR5T3	390154	broad.mit.edu	37	11	56019812	56019812	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:56019812G>C	ENST00000303059.3	+	1	137	c.137G>C	c.(136-138)gGc>gCc	p.G46A		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATATTGACAGGCTTCACAGAT	0.373																																						ENST00000303059.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(136-138)gGc>gCc		olfactory receptor, family 5, subfamily T, member 3							113.0	114.0	114.0					11																	56019812		2201	4296	6497	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56019812G>C	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.137G>C	11.37:g.56019812G>C	ENSP00000305403:p.Gly46Ala						p.G46A	NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN			1	137	+	Esophageal squamous(21;0.00448)		46					Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.137G>C	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100248	0.56183	.	.	ENSG00000172489	ENST00000303059	T	0.00651	5.97	4.75	3.84	0.44239	.	0.000000	0.42053	D	0.000778	T	0.02888	0.0086	M	0.83312	2.635	0.32330	N	0.561211	D	0.63046	0.992	D	0.68192	0.956	T	0.02877	-1.1099	10	0.87932	D	0	.	7.8894	0.29669	0.1518:0.1349:0.7132:0.0	.	46	Q8NGG3	OR5T3_HUMAN	A	46	ENSP00000305403:G46A	ENSP00000305403:G46A	G	+	2	0	OR5T3	55776388	0.998000	0.40836	0.247000	0.24249	0.091000	0.18340	3.511000	0.53400	1.368000	0.46115	0.643000	0.83706	GGC		0.373	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		41	67	0	0	0	0.003214	0	41	67				
ARHGAP15	55843	broad.mit.edu	37	2	143913203	143913203	+	Silent	SNP	T	T	C	rs146989390	byFrequency	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:143913203T>C	ENST00000295095.6	+	2	311	c.144T>C	c.(142-144)gaT>gaC	p.D48D	ARHGAP15_ENST00000409869.1_Silent_p.D48D	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	48					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TCCTCACCGATGTCGGGAAGG	0.423													T|||	3	0.000599042	0.0	0.0	5008	,	,		18099	0.003		0.0	False		,,,				2504	0.0					ENST00000409869.1																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(142-144)gaT>gaC		Rho GTPase activating protein 15							107.0	96.0	100.0					2																	143913203		2203	4300	6503	SO:0001819	synonymous_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143913203T>C	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.144T>C	2.37:g.143913203T>C						ARHGAP15_ENST00000295095.6_Silent_p.D48D	p.D48D			Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	3	321	+			48					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Silent	SNP	ENST00000295095.6	37	c.144T>C	CCDS2184.1																																																																																				0.423	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		26	23	0	0	0	0.007291	0	26	23				
CSMD3	114788	broad.mit.edu	37	8	113246662	113246662	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:113246662G>T	ENST00000297405.5	-	68	10916	c.10672C>A	c.(10672-10674)Ctt>Att	p.L3558I	CSMD3_ENST00000455883.2_Missense_Mutation_p.L3389I|CSMD3_ENST00000352409.3_Missense_Mutation_p.L3488I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L3518I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3558						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTTTAATAAGATATATGCGT	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10672-10674)Ctt>Att		CUB and Sushi multiple domains 3							161.0	160.0	160.0					8																	113246662		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113246662G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10672C>A	8.37:g.113246662G>T	ENSP00000297405:p.Leu3558Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.L3389I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L3518I|CSMD3_ENST00000352409.3_Missense_Mutation_p.L3488I	p.L3558I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			68	10916	-			3558					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10672C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.489247	0.44249	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.24350	2.17;2.17;2.18;1.86;2.18	5.16	3.38	0.38709	.	0.215392	0.33092	N	0.005299	T	0.11410	0.0278	N	0.08118	0	0.27305	N	0.957471	B;B;B	0.29805	0.216;0.059;0.257	B;B;B	0.28916	0.079;0.022;0.096	T	0.23119	-1.0197	10	0.22109	T	0.4	.	7.9132	0.29803	0.3091:0.0:0.6909:0.0	.	3389;3558;3518	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	3518;3558;2828;3389;3488	ENSP00000345799:L3518I;ENSP00000297405:L3558I;ENSP00000341558:L2828I;ENSP00000412263:L3389I;ENSP00000343124:L3488I	ENSP00000297405:L3558I	L	-	1	0	CSMD3	113315838	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.092000	0.41700	0.766000	0.33244	0.655000	0.94253	CTT		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		50	95	1	0	1.4374e-25	0.003610	2.24594e-25	50	95				
CDH9	1007	broad.mit.edu	37	5	26885803	26885803	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:26885803G>T	ENST00000231021.4	-	11	1974	c.1802C>A	c.(1801-1803)aCc>aAc	p.T601N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	601	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GGCTTCTGCGGTGCAGGATTG	0.488																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1801-1803)aCc>aAc		cadherin 9, type 2 (T1-cadherin)							88.0	71.0	77.0					5																	26885803		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26885803G>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1802C>A	5.37:g.26885803G>T	ENSP00000231021:p.Thr601Asn						p.T601N	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			11	1974	-			601			Cadherin 5.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1802C>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	0.285	-0.983929	0.02180	.	.	ENSG00000113100	ENST00000231021	T	0.55234	0.53	5.89	-0.461	0.12172	Cadherin (1);	0.431256	0.29040	N	0.013325	T	0.12008	0.0292	N	0.00217	-1.83	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37865	-0.9687	9	.	.	.	.	6.1086	0.20087	0.0:0.2122:0.2815:0.5063	.	194;601	B4DFP0;Q9ULB4	.;CADH9_HUMAN	N	601	ENSP00000231021:T601N	.	T	-	2	0	CDH9	26921560	0.000000	0.05858	0.021000	0.16686	0.668000	0.39293	-0.279000	0.08479	-0.293000	0.08986	0.563000	0.77884	ACC		0.488	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		6	20	1	0	5.9392e-07	0.001168	7.45061e-07	6	20				
FAM188A	80013	broad.mit.edu	37	10	15828592	15828592	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:15828592C>A	ENST00000277632.3	-	13	1304	c.1084G>T	c.(1084-1086)Ggc>Tgc	p.G362C	FAM188A_ENST00000477891.1_5'UTR|FAM188A_ENST00000378036.1_Missense_Mutation_p.G67C	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	362					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						AGAAATGGGCCCAATAATATG	0.338																																					Pancreas(159;946 1953 2111 4475 22008)	ENST00000378036.1																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						c.(199-201)Ggc>Tgc		family with sequence similarity 188, member A							86.0	96.0	93.0					10																	15828592		2203	4300	6503	SO:0001583	missense	80013				apoptosis	nucleus	calcium ion binding	g.chr10:15828592C>A	AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"""caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein"""	611649	"""chromosome 10 open reading frame 97"""	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.1084G>T	10.37:g.15828592C>A	ENSP00000277632:p.Gly362Cys					FAM188A_ENST00000477891.1_5'UTR|FAM188A_ENST00000277632.3_Missense_Mutation_p.G362C	p.G67C			Q9H8M7	F188A_HUMAN			4	1375	-			362					Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	ENST00000277632.3	37	c.199G>T	CCDS7110.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658089	0.88154	.	.	ENSG00000148481	ENST00000277632;ENST00000378036;ENST00000378033	T	0.30981	1.51	5.52	5.52	0.82312	EF-hand-like domain (1);	0.045546	0.85682	D	0.000000	T	0.49898	0.1584	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.45454	-0.9260	10	0.66056	D	0.02	-11.4454	19.7913	0.96458	0.0:1.0:0.0:0.0	.	362	Q9H8M7	F188A_HUMAN	C	362;67;67	ENSP00000277632:G362C	ENSP00000277632:G362C	G	-	1	0	FAM188A	15868598	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.739000	0.93911	0.655000	0.94253	GGC		0.338	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2	NM_024948		38	77	1	0	6.97489e-18	0.004878	1.02572e-17	38	77				
GAA	2548	broad.mit.edu	37	17	78081647	78081647	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:78081647G>A	ENST00000302262.3	+	5	1126	c.907G>A	c.(907-909)Gac>Aac	p.D303N	GAA_ENST00000390015.3_Missense_Mutation_p.D303N	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	303					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GGCGCTGGAGGACGGCGGGTC	0.687																																						ENST00000302262.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(907-909)Gac>Aac		glucosidase, alpha; acid	Acarbose(DB00284)						30.0	32.0	31.0					17																	78081647		2199	4300	6499	SO:0001583	missense	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78081647G>A		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.907G>A	17.37:g.78081647G>A	ENSP00000305692:p.Asp303Asn					GAA_ENST00000390015.3_Missense_Mutation_p.D303N	p.D303N	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		5	1126	+	all_neural(118;0.117)		303					Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	c.907G>A	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104733	0.56291	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.85411	-1.98;-1.98	5.29	3.29	0.37713	Glycoside hydrolase-type carbohydrate-binding (1);	0.273321	0.39083	N	0.001466	T	0.77698	0.4169	L	0.42744	1.35	0.27968	N	0.936528	B	0.14012	0.009	B	0.18263	0.021	T	0.62210	-0.6902	10	0.19147	T	0.46	-22.6089	10.7869	0.46411	0.2136:0.0:0.7864:0.0	.	303	P10253	LYAG_HUMAN	N	303	ENSP00000305692:D303N;ENSP00000374665:D303N	ENSP00000305692:D303N	D	+	1	0	GAA	75696242	0.999000	0.42202	0.956000	0.39512	0.847000	0.48162	2.131000	0.42074	0.723000	0.32274	0.655000	0.94253	GAC		0.687	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			3	25	0	0	0	0.004672	0	3	25				
KRTAP27-1	643812	broad.mit.edu	37	21	31709388	31709388	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr21:31709388C>A	ENST00000382835.2	-	1	624	c.599G>T	c.(598-600)gGt>gTt	p.G200V		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	200						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TTGAGAACCACCAGTAACACA	0.408																																						ENST00000382835.2																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						c.(598-600)gGt>gTt		keratin associated protein 27-1							66.0	65.0	65.0					21																	31709388		2203	4300	6503	SO:0001583	missense	643812					intermediate filament		g.chr21:31709388C>A	AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"""Keratin associated proteins"""	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.599G>T	21.37:g.31709388C>A	ENSP00000372286:p.Gly200Val						p.G200V	NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN			1	624	-			200						Missense_Mutation	SNP	ENST00000382835.2	37	c.599G>T	CCDS33532.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781642	0.49891	.	.	ENSG00000206107	ENST00000382835	T	0.03580	3.88	4.13	4.13	0.48395	.	0.629145	0.13291	U	0.399013	T	0.15782	0.0380	M	0.65975	2.015	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.00122	-1.2027	10	0.87932	D	0	-10.8019	12.1805	0.54210	0.0:1.0:0.0:0.0	.	200	Q3LI81	KR271_HUMAN	V	200	ENSP00000372286:G200V	ENSP00000372286:G200V	G	-	2	0	KRTAP27-1	30631259	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	2.904000	0.48719	2.586000	0.87340	0.484000	0.47621	GGT		0.408	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711		14	29	1	0	0.000219431	0.002450	0.000263921	14	29				
FAM60A	58516	broad.mit.edu	37	12	31435799	31435799	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:31435799C>T	ENST00000337682.4	-	6	881	c.513G>A	c.(511-513)aaG>aaA	p.K171K	FAM60A_ENST00000539409.1_Silent_p.K23K|FAM60A_ENST00000395766.1_Silent_p.K23K|FAM60A_ENST00000454658.2_Silent_p.K171K|FAM60A_ENST00000542983.1_Silent_p.K23K	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	171					negative regulation of cell migration (GO:0030336)	Sin3 complex (GO:0016580)				large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					CACAACATATCTTCTGTCTAA	0.353																																						ENST00000337682.4																			0				large_intestine(1)|lung(2)	3						c.(511-513)aaG>aaA		family with sequence similarity 60, member A							43.0	42.0	43.0					12																	31435799		2203	4300	6503	SO:0001819	synonymous_variant	58516							g.chr12:31435799C>T	AF212220	CCDS8723.1	12p11.21	2012-11-30	2005-04-07	2005-04-07	ENSG00000139146	ENSG00000139146			30702	protein-coding gene	gene with protein product		615027	"""chromosome 12 open reading frame 14"""	C12orf14		11042152, 22984288, 22865885	Standard	NM_021238		Approved	TERA	uc001rke.3	Q9NP50	OTTHUMG00000168586	ENST00000337682.4:c.513G>A	12.37:g.31435799C>T						FAM60A_ENST00000395766.1_Silent_p.K23K|FAM60A_ENST00000542983.1_Silent_p.K23K|FAM60A_ENST00000454658.2_Silent_p.K171K|FAM60A_ENST00000539409.1_Silent_p.K23K	p.K171K	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN			6	881	-	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)		171					D3DUV8|Q9BSZ8	Silent	SNP	ENST00000337682.4	37	c.513G>A	CCDS8723.1																																																																																				0.353	FAM60A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400347.1	NM_021238		17	29	0	0	0	0.007413	0	17	29				
AGL	178	broad.mit.edu	37	1	100327061	100327061	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:100327061T>C	ENST00000294724.4	+	3	563	c.85T>C	c.(85-87)Tat>Cat	p.Y29H	AGL_ENST00000361522.4_Missense_Mutation_p.Y12H|AGL_ENST00000370165.3_Missense_Mutation_p.Y29H|AGL_ENST00000370161.2_Missense_Mutation_p.Y13H|AGL_ENST00000370163.3_Missense_Mutation_p.Y29H|AGL_ENST00000361915.3_Missense_Mutation_p.Y29H|AGL_ENST00000361302.3_Missense_Mutation_p.Y13H	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	29					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TTATTTAGGGTATGAGCTACA	0.308																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(85-87)Tat>Cat		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							52.0	53.0	53.0					1																	100327061		2203	4299	6502	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100327061T>C	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.85T>C	1.37:g.100327061T>C	ENSP00000294724:p.Tyr29His					AGL_ENST00000370165.3_Missense_Mutation_p.Y29H|AGL_ENST00000361302.3_Missense_Mutation_p.Y13H|AGL_ENST00000370163.3_Missense_Mutation_p.Y29H|AGL_ENST00000370161.2_Missense_Mutation_p.Y13H|AGL_ENST00000361522.4_Missense_Mutation_p.Y12H|AGL_ENST00000361915.3_Missense_Mutation_p.Y29H	p.Y29H	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	3	563	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	29					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.85T>C	CCDS759.1	.	.	.	.	.	.	.	.	.	.	T	14.76	2.632983	0.47049	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	4.97	4.97	0.65823	.	0.056665	0.64402	D	0.000001	T	0.45196	0.1330	N	0.19112	0.55	0.33033	D	0.530387	B;B;B	0.18310	0.027;0.027;0.005	B;B;B	0.17098	0.017;0.017;0.004	T	0.40850	-0.9541	10	0.33940	T	0.23	.	14.6514	0.68800	0.0:0.0:0.0:1.0	.	12;13;29	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	H	29;29;29;29;13;13;12	ENSP00000355106:Y29H;ENSP00000359184:Y29H;ENSP00000359182:Y29H;ENSP00000294724:Y29H;ENSP00000354971:Y13H;ENSP00000359180:Y13H;ENSP00000354635:Y12H	ENSP00000294724:Y29H	Y	+	1	0	AGL	100099649	1.000000	0.71417	0.992000	0.48379	0.822000	0.46500	7.985000	0.88162	1.866000	0.54105	0.460000	0.39030	TAT		0.308	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		12	9	0	0	0	0.001368	0	12	9				
PCDHB15	56121	broad.mit.edu	37	5	140627413	140627413	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:140627413C>A	ENST00000231173.3	+	1	2267	c.2267C>A	c.(2266-2268)aCg>aAg	p.T756K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	756					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGTGTCTGACGGGAGGCTCT	0.517																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(2266-2268)aCg>aAg									109.0	121.0	117.0					5																	140627413		2203	4300	6503	SO:0001583	missense	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627413C>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2267C>A	5.37:g.140627413C>A	ENSP00000231173:p.Thr756Lys						p.T756K	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2267	+			756					Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.2267C>A	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712085	0.48517	.	.	ENSG00000113248	ENST00000231173	T	0.16457	2.34	4.34	1.39	0.22231	.	.	.	.	.	T	0.34978	0.0916	H	0.95187	3.635	0.09310	N	0.999998	B	0.29835	0.258	B	0.35813	0.211	T	0.34750	-0.9816	9	0.87932	D	0	.	9.0621	0.36440	0.0:0.642:0.2785:0.0795	.	756	Q9Y5E8	PCDBF_HUMAN	K	756	ENSP00000231173:T756K	ENSP00000231173:T756K	T	+	2	0	PCDHB15	140607597	0.000000	0.05858	0.011000	0.14972	0.363000	0.29612	0.180000	0.16860	0.045000	0.15804	0.556000	0.70494	ACG		0.517	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		71	120	1	0	4.98182e-18	0.003610	7.38829e-18	71	120				
INHBA	3624	broad.mit.edu	37	7	41739824	41739824	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:41739824G>T	ENST00000242208.4	-	2	395	c.149C>A	c.(148-150)tCt>tAt	p.S50Y	INHBA-AS1_ENST00000422822.1_RNA|INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000420821.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.S50Y	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	50					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.S50Y(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTCTGGCTGAGAGTTGGGTAC	0.612										TSP Lung(11;0.080)																												ENST00000242208.4																			1	Substitution - Missense(1)	p.S50Y(1)	lung(1)	biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(148-150)tCt>tAt		inhibin, beta A							186.0	201.0	196.0					7																	41739824		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41739824G>T		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.149C>A	7.37:g.41739824G>T	ENSP00000242208:p.Ser50Tyr	TSP Lung(11;0.080)				INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000422822.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.S50Y	p.S50Y	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN			2	395	-			50					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.149C>A	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637213	0.67130	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.66638	-0.22;-0.22	5.49	5.49	0.81192	Transforming growth factor-beta, N-terminal (1);	0.748591	0.12890	N	0.430655	T	0.73140	0.3549	L	0.44542	1.39	0.50813	D	0.999899	B	0.30793	0.295	P	0.44518	0.452	T	0.70901	-0.4746	10	0.66056	D	0.02	-1.1473	19.3797	0.94527	0.0:0.0:1.0:0.0	.	50	P08476	INHBA_HUMAN	Y	50	ENSP00000242208:S50Y;ENSP00000397197:S50Y	ENSP00000242208:S50Y	S	-	2	0	INHBA	41706349	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	5.483000	0.66838	2.576000	0.86940	0.655000	0.94253	TCT		0.612	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			187	256	1	0	7.59282e-81	0.003610	1.27764e-80	187	256				
MSC	9242	broad.mit.edu	37	8	72754902	72754902	+	Silent	SNP	G	G	T	rs181687603	byFrequency	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:72754902G>T	ENST00000325509.4	-	2	904	c.615C>A	c.(613-615)acC>acA	p.T205T	RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000524152.1_5'Flank|RP11-383H13.1_ENST00000537896.1_5'Flank	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	205					branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CGATTTAAGCGGTGGTTCCAC	0.493																																						ENST00000325509.4																			0				endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26						c.(613-615)acC>acA		musculin							381.0	381.0	381.0					8																	72754902		1956	4142	6098	SO:0001819	synonymous_variant	9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72754902G>T		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.615C>A	8.37:g.72754902G>T						RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'UTR	p.T205T	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		2	904	-	Breast(64;0.176)		205					O75946|Q53XZ2|Q9BRE7	Silent	SNP	ENST00000325509.4	37	c.615C>A	CCDS43746.1																																																																																				0.493	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098		200	317	1	0	3.50731e-122	0.003610	5.98809e-122	200	317				
STK31	56164	broad.mit.edu	37	7	23827673	23827673	+	Silent	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:23827673A>G	ENST00000355870.3	+	21	2681	c.2562A>G	c.(2560-2562)tcA>tcG	p.S854S	STK31_ENST00000354639.3_Silent_p.S831S|STK31_ENST00000433467.2_Silent_p.S854S|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.S831S	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	854	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTCATGGATCACTTCATCAGA	0.353																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2491-2493)tcA>tcG		serine/threonine kinase 31							150.0	139.0	142.0					7																	23827673		2203	4300	6503	SO:0001819	synonymous_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23827673A>G	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2562A>G	7.37:g.23827673A>G						STK31_ENST00000433467.2_Silent_p.S854S|STK31_ENST00000428484.1_Silent_p.S831S|STK31_ENST00000355870.3_Silent_p.S854S|STK31_ENST00000405627.3_3'UTR	p.S831S	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			21	2957	+			854			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Silent	SNP	ENST00000355870.3	37	c.2493A>G	CCDS5386.1																																																																																				0.353	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		33	93	0	0	0	0.002836	0	33	93				
APOBEC2	10930	broad.mit.edu	37	6	41029194	41029194	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:41029194C>A	ENST00000244669.2	+	2	303	c.259C>A	c.(259-261)Cgg>Agg	p.R87R		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	87					cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAGGCATCTCGGGGATACCT	0.567																																					Ovarian(118;1320 2185 8096 29684)	ENST00000244669.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10						c.(259-261)Cgg>Agg		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2							89.0	82.0	84.0					6																	41029194		2203	4300	6503	SO:0001819	synonymous_variant	10930				DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding	g.chr6:41029194C>A	AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"""Apolipoprotein B mRNA editing enzymes"""	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.259C>A	6.37:g.41029194C>A							p.R87R	NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN			2	303	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		87					B2R899|Q53F28|Q5TGU5|Q5TGU6	Silent	SNP	ENST00000244669.2	37	c.259C>A	CCDS4848.1																																																																																				0.567	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040498.1	NM_006789		36	82	1	0	4.34311e-12	0.003271	5.89181e-12	36	82				
AOX1	316	broad.mit.edu	37	2	201468754	201468754	+	Silent	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:201468754C>G	ENST00000374700.2	+	8	844	c.603C>G	c.(601-603)ctC>ctG	p.L201L		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	201					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.L201L(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTCCAAAACTCTTCGCAGAAG	0.383																																						ENST00000374700.2																			1	Substitution - coding silent(1)	p.L201L(1)	urinary_tract(1)	breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(601-603)ctC>ctG		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						71.0	70.0	71.0					2																	201468754		2203	4300	6503	SO:0001819	synonymous_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201468754C>G	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.603C>G	2.37:g.201468754C>G							p.L201L	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			8	844	+			201					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.603C>G	CCDS33360.1																																																																																				0.383	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		32	30	0	0	0	0.002836	0	32	30				
VKORC1	79001	broad.mit.edu	37	16	31105904	31105904	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:31105904G>A	ENST00000394975.2	-	1	374	c.147C>T	c.(145-147)atC>atT	p.I49I	VKORC1_ENST00000354895.4_Silent_p.I49I|VKORC1_ENST00000300851.6_Silent_p.I49I|VKORC1_ENST00000319788.7_Silent_p.I49I|VKORC1_ENST00000394971.3_5'Flank|RP11-196G11.1_ENST00000529564.1_Silent_p.I49I|VKORC1_ENST00000498155.1_Intron	NM_024006.4	NP_076869.1	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	49					blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular protein metabolic process (GO:0044267)|drug metabolic process (GO:0017144)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	GCGAACAGCTGATGGCGGTGC	0.682																																						ENST00000319788.7																			0				lung(3)|urinary_tract(1)	4						c.(145-147)atC>atT		vitamin K epoxide reductase complex, subunit 1	Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)						14.0	15.0	15.0					16																	31105904		2195	4284	6479	SO:0001819	synonymous_variant	79001				peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity	g.chr16:31105904G>A		CCDS10703.1, CCDS10704.1	16p11.2	2008-02-05	2004-07-23		ENSG00000167397	ENSG00000167397			23663	protein-coding gene	gene with protein product		608547	"""vitamin K dependent clotting factors deficiency 2"""	VKCFD2			Standard	NM_024006		Approved		uc002eas.3	Q9BQB6	OTTHUMG00000047408	ENST00000394975.2:c.147C>T	16.37:g.31105904G>A						RP11-196G11.1_ENST00000529564.1_Silent_p.I49I|VKORC1_ENST00000498155.1_Intron|VKORC1_ENST00000300851.6_Silent_p.I49I|VKORC1_ENST00000354895.4_Silent_p.I49I|VKORC1_ENST00000394975.2_Silent_p.I49I	p.I49I			Q9BQB6	VKOR1_HUMAN			1	357	-			49					A6NIQ6|B2R4Z6|Q6UX90|Q7Z2R4	Silent	SNP	ENST00000394975.2	37	c.147C>T	CCDS10703.1																																																																																				0.682	VKORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108582.1	NM_024006		12	11	0	0	0	0.001368	0	12	11				
RYR3	6263	broad.mit.edu	37	15	33954863	33954863	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:33954863G>C	ENST00000389232.4	+	35	5202	c.5132G>C	c.(5131-5133)cGa>cCa	p.R1711P	RYR3_ENST00000415757.3_Missense_Mutation_p.R1711P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1711	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R1711L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCCCACATCCGAGACCCTGTA	0.562																																						ENST00000389232.4																			1	Substitution - Missense(1)	p.R1711L(1)	lung(1)	NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(5131-5133)cGa>cCa		ryanodine receptor 3							72.0	79.0	77.0					15																	33954863		2062	4233	6295	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33954863G>C		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5132G>C	15.37:g.33954863G>C	ENSP00000373884:p.Arg1711Pro					RYR3_ENST00000415757.3_Missense_Mutation_p.R1711P	p.R1711P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	35	5202	+		all_lung(180;7.18e-09)	1711			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.5132G>C	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425297	0.83667	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.75589	-0.95;-0.95	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000002	D	0.87884	0.6290	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.974;0.999	D	0.88822	0.3299	10	0.87932	D	0	.	19.3887	0.94570	0.0:0.0:1.0:0.0	.	1711;1711	Q15413-2;Q15413	.;RYR3_HUMAN	P	1711	ENSP00000373884:R1711P;ENSP00000399610:R1711P	ENSP00000354735:R1711P	R	+	2	0	RYR3	31742155	1.000000	0.71417	0.997000	0.53966	0.856000	0.48823	9.349000	0.97066	2.826000	0.97356	0.655000	0.94253	CGA		0.562	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			23	18	0	0	0	0.003330	0	23	18				
NFE2L2	4780	broad.mit.edu	37	2	178098973	178098973	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:178098973C>G	ENST00000397062.3	-	2	626	c.72G>C	c.(70-72)tgG>tgC	p.W24C	NFE2L2_ENST00000464747.1_Missense_Mutation_p.W8C|NFE2L2_ENST00000423513.1_Missense_Mutation_p.W8C|NFE2L2_ENST00000397063.4_Missense_Mutation_p.W8C|NFE2L2_ENST00000446151.2_Missense_Mutation_p.W8C	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	24					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W24C(5)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TATCTTGCCTCCAAAGTATGT	0.348			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		5	Substitution - Missense(5)	p.W24C(5)	lung(3)|oesophagus(2)	central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(70-72)tgG>tgC		nuclear factor, erythroid 2-like 2							56.0	50.0	52.0					2																	178098973		1838	4096	5934	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098973C>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.72G>C	2.37:g.178098973C>G	ENSP00000380252:p.Trp24Cys	HNSCC(56;0.16)				NFE2L2_ENST00000464747.1_Missense_Mutation_p.W8C|NFE2L2_ENST00000446151.2_Missense_Mutation_p.W8C|NFE2L2_ENST00000397063.4_Missense_Mutation_p.W8C|NFE2L2_ENST00000423513.1_Missense_Mutation_p.W8C	p.W24C	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	626	-			24					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.72G>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663565	0.67700	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.998	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	8;8;8;24	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	C	8;24;8;8;8;8;8	ENSP00000380253:W8C;ENSP00000380252:W24C;ENSP00000411575:W8C;ENSP00000391590:W8C;ENSP00000400073:W8C;ENSP00000412191:W8C;ENSP00000410015:W8C	ENSP00000380252:W24C	W	-	3	0	NFE2L2	177807219	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	TGG		0.348	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		19	20	0	0	0	0.006122	0	19	20				
SLC24A5	283652	broad.mit.edu	37	15	48434437	48434437	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:48434437C>T	ENST00000341459.3	+	9	1465	c.1392C>T	c.(1390-1392)gaC>gaT	p.D464D	MYEF2_ENST00000267836.6_3'UTR|SLC24A5_ENST00000449382.2_Silent_p.D404D|MYEF2_ENST00000324324.7_3'UTR	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	464					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		GGAAACTAGACAGAAAGTTGG	0.343																																						ENST00000341459.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1390-1392)gaC>gaT		solute carrier family 24 (sodium/potassium/calcium exchanger), member 5							70.0	74.0	73.0					15																	48434437		2198	4296	6494	SO:0001819	synonymous_variant	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48434437C>T	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.1392C>T	15.37:g.48434437C>T						MYEF2_ENST00000267836.6_3'UTR|MYEF2_ENST00000324324.7_3'UTR|SLC24A5_ENST00000449382.2_Silent_p.D404D	p.D464D	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	9	1465	+		all_lung(180;0.00217)	464					A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Silent	SNP	ENST00000341459.3	37	c.1392C>T	CCDS10128.1																																																																																				0.343	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		40	20	0	0	0	0.006999	0	40	20				
MAGI3	260425	broad.mit.edu	37	1	114216018	114216018	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:114216018G>A	ENST00000307546.9	+	19	3195	c.3120G>A	c.(3118-3120)gaG>gaA	p.E1040E	MAGI3_ENST00000369615.1_Silent_p.E1040E|MAGI3_ENST00000369617.4_Silent_p.E1065E|MAGI3_ENST00000369611.4_Silent_p.E1040E	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1065					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGGAAGGAGTACAACATGG	0.488																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(3118-3120)gaG>gaA		membrane associated guanylate kinase, WW and PDZ domain containing 3							112.0	117.0	116.0					1																	114216018		2203	4300	6503	SO:0001819	synonymous_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114216018G>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3120G>A	1.37:g.114216018G>A						MAGI3_ENST00000369611.4_Silent_p.E1040E|MAGI3_ENST00000369617.4_Silent_p.E1065E|MAGI3_ENST00000307546.9_Silent_p.E1040E	p.E1040E	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	19	3182	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	1065					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	c.3120G>A	CCDS44196.1																																																																																				0.488	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		64	39	0	0	0	0.003610	0	64	39				
MYO18B	84700	broad.mit.edu	37	22	26242187	26242187	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr22:26242187C>A	ENST00000407587.2	+	19	3661	c.3492C>A	c.(3490-3492)acC>acA	p.T1164T	MYO18B_ENST00000536101.1_Silent_p.T1163T|MYO18B_ENST00000335473.7_Silent_p.T1163T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1163	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGAGGAGGACCTTTGCCAGCA	0.672																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(3487-3489)acC>acA		myosin XVIIIB							65.0	76.0	72.0					22																	26242187		2144	4237	6381	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26242187C>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3492C>A	22.37:g.26242187C>A						MYO18B_ENST00000407587.2_Silent_p.T1164T|MYO18B_ENST00000536101.1_Silent_p.T1163T	p.T1163T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			19	3739	+			1163			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.3489C>A																																																																																					0.672	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		27	36	1	0	1.04121e-07	0.005443	1.33002e-07	27	36				
SPACA1	81833	broad.mit.edu	37	6	88763681	88763681	+	Missense_Mutation	SNP	G	G	C	rs373094172		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:88763681G>C	ENST00000237201.1	+	2	343	c.226G>C	c.(226-228)Gtc>Ctc	p.V76L		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	76					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TAGGAATGTCGTCAAAGAAGT	0.348																																						ENST00000237201.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20						c.(226-228)Gtc>Ctc		sperm acrosome associated 1							87.0	85.0	86.0					6																	88763681		2203	4300	6503	SO:0001583	missense	81833					integral to membrane		g.chr6:88763681G>C	AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.226G>C	6.37:g.88763681G>C	ENSP00000237201:p.Val76Leu						p.V76L	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.11)	2	343	+		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	76						Missense_Mutation	SNP	ENST00000237201.1	37	c.226G>C	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.237868	0.22711	.	.	ENSG00000118434	ENST00000237201	T	0.21543	2.0	5.97	1.93	0.25924	.	0.811387	0.10979	N	0.612887	T	0.07683	0.0193	M	0.65975	2.015	0.09310	N	1	P	0.38370	0.628	B	0.35470	0.203	T	0.34576	-0.9823	10	0.59425	D	0.04	-6.9977	1.9497	0.03364	0.1539:0.1154:0.3434:0.3873	.	76	Q9HBV2	SACA1_HUMAN	L	76	ENSP00000237201:V76L	ENSP00000237201:V76L	V	+	1	0	SPACA1	88820400	0.792000	0.28813	0.363000	0.25875	0.182000	0.23217	0.669000	0.25142	0.388000	0.25054	0.650000	0.86243	GTC		0.348	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1			8	20	0	0	0	0.008291	0	8	20				
GLUD1	2746	broad.mit.edu	37	10	88836358	88836358	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:88836358C>T	ENST00000277865.4	-	2	597	c.501G>A	c.(499-501)ctG>ctA	p.L167L	GLUD1_ENST00000537649.1_5'UTR|GLUD1_ENST00000544149.1_Silent_p.L34L	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	167					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	TGTATGTCATCAGAGAAGCCA	0.413																																						ENST00000277865.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22						c.(499-501)ctG>ctA		glutamate dehydrogenase 1	L-Glutamic Acid(DB00142)|NADH(DB00157)						118.0	103.0	108.0					10																	88836358		2203	4300	6503	SO:0001819	synonymous_variant	2746				glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	g.chr10:88836358C>T	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.501G>A	10.37:g.88836358C>T						GLUD1_ENST00000537649.1_5'UTR|GLUD1_ENST00000544149.1_Silent_p.L34L	p.L167L	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN			2	597	-			167					B3KV55|B4DGN5|Q5TBU3	Silent	SNP	ENST00000277865.4	37	c.501G>A	CCDS7382.1																																																																																				0.413	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271		25	36	0	0	0	0.004656	0	25	36				
KCNN2	3781	broad.mit.edu	37	5	113831815	113831815	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:113831815G>T	ENST00000512097.3	+	9	2694	c.1676G>T	c.(1675-1677)cGg>cTg	p.R559L	KCNN2_ENST00000264773.3_Missense_Mutation_p.R559L|KCNN2_ENST00000503706.1_Missense_Mutation_p.R211L|RP11-492A10.1_ENST00000514115.1_RNA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	559					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	GAGCGGTCCCGGTCCTCGTCC	0.512																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1675-1677)cGg>cTg		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2							100.0	97.0	98.0					5																	113831815		2202	4300	6502	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113831815G>T	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1676G>T	5.37:g.113831815G>T	ENSP00000427120:p.Arg559Leu					KCNN2_ENST00000503706.1_Missense_Mutation_p.R211L|RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000264773.3_Missense_Mutation_p.R559L	p.R559L			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	9	2694	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	559					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.1676G>T	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079245	0.55753	.	.	ENSG00000080709	ENST00000264773;ENST00000503706	D;D	0.98329	-4.87;-3.23	5.28	5.28	0.74379	.	0.110636	0.64402	D	0.000008	D	0.95937	0.8677	L	0.51422	1.61	0.51767	D	0.999933	P	0.35401	0.499	B	0.26693	0.072	D	0.95713	0.8759	10	0.17832	T	0.49	.	18.5437	0.91039	0.0:0.0:1.0:0.0	.	559	Q9H2S1	KCNN2_HUMAN	L	559;211	ENSP00000264773:R559L;ENSP00000421439:R211L	ENSP00000264773:R559L	R	+	2	0	KCNN2	113859714	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.950000	0.70265	2.481000	0.83766	0.643000	0.83706	CGG		0.512	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		31	74	1	0	2.08457e-15	0.002096	2.96585e-15	31	74				
OR2AT4	341152	broad.mit.edu	37	11	74800246	74800246	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:74800246C>G	ENST00000305159.3	-	1	553	c.513G>C	c.(511-513)atG>atC	p.M171I		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	171						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						TGTTATATGCCATCTGGGAGG	0.572																																						ENST00000305159.3																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						c.(511-513)atG>atC		olfactory receptor, family 2, subfamily AT, member 4							98.0	88.0	91.0					11																	74800246		2200	4293	6493	SO:0001583	missense	341152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:74800246C>G	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.513G>C	11.37:g.74800246C>G	ENSP00000304846:p.Met171Ile						p.M171I	NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN			1	553	-			171					B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	37	c.513G>C	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	C	8.330	0.826374	0.16749	.	.	ENSG00000171561	ENST00000305159	T	0.36157	1.27	4.73	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38548	U	0.001653	T	0.14917	0.0360	N	0.02315	-0.6	0.31856	N	0.621564	B	0.14805	0.011	B	0.16289	0.015	T	0.05716	-1.0868	10	0.87932	D	0	.	7.3937	0.26923	0.0:0.8069:0.0:0.1931	.	171	A6NND4	O2AT4_HUMAN	I	171	ENSP00000304846:M171I	ENSP00000304846:M171I	M	-	3	0	OR2AT4	74477894	0.254000	0.23992	0.931000	0.37212	0.228000	0.25075	1.328000	0.33758	1.350000	0.45770	0.650000	0.86243	ATG		0.572	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		25	9	0	0	0	0.003954	0	25	9				
HECTD4	283450	broad.mit.edu	37	12	112622228	112622228	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:112622228G>A	ENST00000430131.2	-	60	10421	c.9276C>T	c.(9274-9276)gcC>gcT	p.A3092A	HECTD4_ENST00000377560.5_Silent_p.A3342A|HECTD4_ENST00000550722.1_Silent_p.A3368A			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3092					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GCTCGAGGCCGGCAGGCAGCG	0.677																																						ENST00000550722.1																			0											c.(10102-10104)gcC>gcT		HECT domain containing E3 ubiquitin protein ligase 4							15.0	21.0	19.0					12																	112622228		2153	4259	6412	SO:0001819	synonymous_variant	283450							g.chr12:112622228G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9276C>T	12.37:g.112622228G>A						HECTD4_ENST00000377560.5_Silent_p.A3342A|HECTD4_ENST00000430131.2_Silent_p.A3092A	p.A3368A	NM_001109662.3	NP_001103132.3					61	10499	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.10104C>T																																																																																					0.677	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		11	1	0	0	0	0.008291	0	11	1				
HDHD1	8226	broad.mit.edu	37	X	7023726	7023726	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:7023726T>C	ENST00000381077.5	-	2	291	c.215A>G	c.(214-216)gAg>gGg	p.E72G	HDHD1_ENST00000412827.2_Intron|HDHD1_ENST00000540122.1_Missense_Mutation_p.E72G|HDHD1_ENST00000424830.2_Missense_Mutation_p.E95G|HDHD1_ENST00000498474.2_5'UTR	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	72					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						CACCAGCTCCTCTTTGGACAT	0.502																																						ENST00000381077.5																			0				breast(2)|large_intestine(1)|lung(3)	6						c.(214-216)gAg>gGg		haloacid dehalogenase-like hydrolase domain containing 1							75.0	73.0	73.0					X																	7023726		1926	4135	6061	SO:0001583	missense	8226				nucleotide metabolic process		metal ion binding|phosphatase activity	g.chrX:7023726T>C	M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"""family with sequence similarity 16, member A, X-linked"", ""haloacid dehalogenase-like hydrolase domain containing 1A"""	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.215A>G	X.37:g.7023726T>C	ENSP00000370467:p.Glu72Gly					HDHD1_ENST00000424830.2_Missense_Mutation_p.E95G|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000540122.1_Missense_Mutation_p.E72G|HDHD1_ENST00000412827.2_Intron	p.E72G	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN			2	291	-			72					B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Missense_Mutation	SNP	ENST00000381077.5	37	c.215A>G	CCDS48075.1	.	.	.	.	.	.	.	.	.	.	t	21.6	4.167355	0.78339	.	.	ENSG00000130021	ENST00000381077;ENST00000544385;ENST00000424830;ENST00000540122;ENST00000486446	T;T;T;T	0.05717	3.4;3.4;3.4;3.4	4.01	4.01	0.46588	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.28101	0.0693	M	0.88031	2.925	0.80722	D	1	P;B;D;P	0.89917	0.729;0.228;1.0;0.485	B;B;D;P	0.91635	0.367;0.383;0.999;0.502	T	0.06607	-1.0817	10	0.66056	D	0.02	-26.2932	11.2368	0.48944	0.0:0.0:0.0:1.0	.	72;95;72;72	Q08623-3;E9PAV8;E7EVH9;Q08623	.;.;.;HDHD1_HUMAN	G	72;88;95;72;72	ENSP00000370467:E72G;ENSP00000396452:E95G;ENSP00000441208:E72G;ENSP00000430995:E72G	ENSP00000370467:E72G	E	-	2	0	HDHD1	7033726	1.000000	0.71417	0.921000	0.36526	0.981000	0.71138	6.361000	0.73070	1.308000	0.44962	0.483000	0.47432	GAG		0.502	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055683.2	NM_012080		16	0	0	0	0	0.004007	0	16	0				
RELT	84957	broad.mit.edu	37	11	73101965	73101965	+	Splice_Site	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:73101965G>T	ENST00000064780.2	+	4	547	c.286G>T	c.(286-288)Ggg>Tgg	p.G96W	RELT_ENST00000393580.2_Splice_Site_p.G96W	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	96						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						CTGCTGGCCTGGGTAAGCCAA	0.632																																						ENST00000064780.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						c.e4+1		RELT tumor necrosis factor receptor							48.0	52.0	51.0					11																	73101965		2200	4293	6493	SO:0001630	splice_region_variant	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73101965G>T	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.287+1G>T	11.37:g.73101965G>T						RELT_ENST00000393580.2_Splice_Site_p.G96_splice	p.G96_splice	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN			4	547	+			96					Q86V34|Q96JU1|Q9BUX7	Splice_Site	SNP	ENST00000064780.2	37	c.287_splice	CCDS8222.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669867	0.88348	.	.	ENSG00000054967	ENST00000064780;ENST00000545687;ENST00000393580	D;D;D	0.84223	-1.6;-1.82;-1.6	5.31	5.31	0.75309	.	0.108819	0.64402	D	0.000007	D	0.92496	0.7617	M	0.82193	2.58	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.93231	0.6617	10	0.87932	D	0	-34.8675	14.8893	0.70594	0.0:0.0:1.0:0.0	.	96	Q969Z4	TR19L_HUMAN	W	96	ENSP00000064780:G96W;ENSP00000439352:G96W;ENSP00000377207:G96W	ENSP00000064780:G96W	G	+	1	0	RELT	72779613	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.344000	0.79328	2.652000	0.90054	0.638000	0.83543	GGG		0.632	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871	Missense_Mutation	24	19	1	0	1.77063e-15	0.005443	2.52947e-15	24	19				
GRIN2A	2903	broad.mit.edu	37	16	10274094	10274094	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:10274094G>T	ENST00000396573.2	-	3	484	c.175C>A	c.(175-177)Cag>Aag	p.Q59K	GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q59K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q59K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q59K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q59K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	59					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCGCCGCCTGCTCGGGGCCC	0.657																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(175-177)Cag>Aag		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						59.0	64.0	63.0					16																	10274094		2197	4299	6496	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10274094G>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.175C>A	16.37:g.10274094G>T	ENSP00000379818:p.Gln59Lys					GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q59K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q59K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q59K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q59K	p.Q59K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			3	484	-			59					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.175C>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	4.998	0.185286	0.09495	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000330684;ENST00000396575	D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06	4.54	4.54	0.55810	.	0.577583	0.15854	N	0.241367	T	0.71986	0.3405	L	0.29908	0.895	0.80722	D	1	B;B;B	0.31125	0.309;0.019;0.016	B;B;B	0.21917	0.037;0.017;0.013	T	0.67177	-0.5736	9	.	.	.	.	6.0149	0.19596	0.0976:0.0:0.6983:0.204	.	59;59;59	Q547U9;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	K	59	ENSP00000379818:Q59K;ENSP00000385872:Q59K;ENSP00000332549:Q59K;ENSP00000379820:Q59K	.	Q	-	1	0	GRIN2A	10181595	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.165000	0.58196	2.088000	0.63022	0.561000	0.74099	CAG		0.657	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			44	77	1	0	1.8453e-21	0.002522	2.84517e-21	44	77				
MRPL39	54148	broad.mit.edu	37	21	26960033	26960033	+	Intron	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr21:26960033G>A	ENST00000352957.4	-	9	1011				MRPL39_ENST00000307301.7_Silent_p.L346L	NM_017446.3	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39							mitochondrial ribosome (GO:0005761)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						TTCCATGGAGGAGGTACGACT	0.348																																						ENST00000307301.7																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						c.(1036-1038)ctC>ctT		mitochondrial ribosomal protein L39							75.0	73.0	73.0					21																	26960033		2203	4300	6503	SO:0001627	intron_variant	54148					mitochondrial ribosome	nucleotide binding	g.chr21:26960033G>A	AB051346	CCDS13573.1, CCDS33522.1	21q11.2-q21	2012-09-13			ENSG00000154719	ENSG00000154719		"""Mitochondrial ribosomal proteins / large subunits"""	14027	protein-coding gene	gene with protein product		611845				11543634	Standard	NM_080794		Approved	RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451	uc002yln.3	Q9NYK5	OTTHUMG00000078371	ENST00000352957.4:c.969+1113C>T	21.37:g.26960033G>A						MRPL39_ENST00000352957.4_Intron	p.L346L	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN			10	1079	-			0					C9JYA5|Q32Q74|Q5QTR3|Q96Q65|Q9BSQ7|Q9BZV6|Q9NX44	Silent	SNP	ENST00000352957.4	37	c.1038C>T	CCDS13573.1																																																																																				0.348	MRPL39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171194.1	NM_017446		15	38	0	0	0	0.003163	0	15	38				
ARHGAP15	55843	broad.mit.edu	37	2	143913079	143913079	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:143913079C>G	ENST00000295095.6	+	2	187	c.20C>G	c.(19-21)tCt>tGt	p.S7C	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.S7C	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	7					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TCTACAAATTCTGATACTTCC	0.373																																						ENST00000409869.1																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(19-21)tCt>tGt		Rho GTPase activating protein 15							53.0	49.0	50.0					2																	143913079		2203	4300	6503	SO:0001583	missense	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143913079C>G	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.20C>G	2.37:g.143913079C>G	ENSP00000295095:p.Ser7Cys					ARHGAP15_ENST00000295095.6_Missense_Mutation_p.S7C	p.S7C			Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	3	197	+			7					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.20C>G	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799559	0.31869	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	T	0.08458	3.09	5.96	3.14	0.36123	.	0.562839	0.18780	N	0.131351	T	0.05502	0.0145	N	0.14661	0.345	0.25858	N	0.983862	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.34750	-0.9816	10	0.34782	T	0.22	.	11.2255	0.48882	0.0:0.6864:0.2483:0.0653	.	7;7	B4E0R3;Q53QZ3	.;RHG15_HUMAN	C	7	ENSP00000295095:S7C	ENSP00000295095:S7C	S	+	2	0	ARHGAP15	143629549	0.999000	0.42202	0.867000	0.34043	0.847000	0.48162	1.551000	0.36233	0.381000	0.24851	0.655000	0.94253	TCT		0.373	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		11	18	0	0	0	0.008291	0	11	18				
SPANXN2	494119	broad.mit.edu	37	X	142795413	142795413	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:142795413G>T	ENST00000370498.1	-	2	1018	c.265C>A	c.(265-267)Cta>Ata	p.L89I		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	89										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGAGTCTAGGCCTTCGTCC	0.488																																						ENST00000370498.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(265-267)Cta>Ata		SPANX family, member N2							358.0	324.0	336.0					X																	142795413		2203	4300	6503	SO:0001583	missense	494119							g.chrX:142795413G>T		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.265C>A	X.37:g.142795413G>T	ENSP00000359529:p.Leu89Ile						p.L89I	NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN			2	1018	-	Acute lymphoblastic leukemia(192;6.56e-05)		89					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.265C>A	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	G	8.500	0.863966	0.17250	.	.	ENSG00000203924	ENST00000370498	T	0.06687	3.27	0.628	-0.386	0.12466	.	.	.	.	.	T	0.10078	0.0247	L	0.47716	1.5	0.09310	N	1	P	0.36909	0.573	P	0.44772	0.46	T	0.32877	-0.9890	8	0.36615	T	0.2	.	.	.	.	.	89	Q5MJ10	SPXN2_HUMAN	I	89	ENSP00000359529:L89I	ENSP00000359529:L89I	L	-	1	2	SPANXN2	142623079	0.008000	0.16893	0.000000	0.03702	0.000000	0.00434	-0.950000	0.03889	-0.270000	0.09285	-0.539000	0.04255	CTA		0.488	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		252	73	1	0	9.62967e-114	0.003610	1.63611e-113	252	73				
FBN1	2200	broad.mit.edu	37	15	48818391	48818391	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:48818391G>A	ENST00000316623.5	-	9	1379	c.924C>T	c.(922-924)gtC>gtT	p.V308V		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	308	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGTAACTGCTGACTGTGTTTG	0.403																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(922-924)gtC>gtT		fibrillin 1							122.0	110.0	114.0					15																	48818391		2197	4296	6493	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48818391G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.924C>T	15.37:g.48818391G>A							p.V308V	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	9	1379	-		all_lung(180;0.00279)	308			EGF-like 5; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.924C>T	CCDS32232.1																																																																																				0.403	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			50	11	0	0	0	0.003610	0	50	11				
PBX2	5089	broad.mit.edu	37	6	32154610	32154610	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:32154610C>T	ENST00000375050.4	-	7	1363	c.1093G>A	c.(1093-1095)Gat>Aat	p.D365N	AGER_ENST00000375076.4_5'Flank|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000375070.3_5'Flank|AGER_ENST00000375069.3_5'Flank|AGER_ENST00000375055.2_5'Flank|AGER_ENST00000375065.5_5'Flank|AGER_ENST00000375067.3_5'Flank|AGER_ENST00000438221.2_5'Flank|AGER_ENST00000538695.1_5'Flank	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	365					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GAATAGGAATCTCCGTTGAGC	0.512																																						ENST00000375050.4																			0				endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						c.(1093-1095)Gat>Aat		pre-B-cell leukemia homeobox 2							78.0	76.0	77.0					6																	32154610		2203	4300	6503	SO:0001583	missense	5089						transcription factor binding	g.chr6:32154610C>T		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.1093G>A	6.37:g.32154610C>T	ENSP00000364190:p.Asp365Asn						p.D365N	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN			7	1363	-			365					A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	c.1093G>A	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894516	0.72639	.	.	ENSG00000204304	ENST00000375050	D	0.87729	-2.29	4.99	4.99	0.66335	.	0.000000	0.52532	D	0.000076	D	0.83529	0.5274	L	0.54323	1.7	0.42793	D	0.993907	P	0.45672	0.864	P	0.46543	0.52	D	0.83463	0.0055	10	0.38643	T	0.18	-13.195	15.8213	0.78648	0.0:1.0:0.0:0.0	.	365	P40425	PBX2_HUMAN	N	365	ENSP00000364190:D365N	ENSP00000364190:D365N	D	-	1	0	PBX2	32262588	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.384000	0.66225	2.606000	0.88127	0.561000	0.74099	GAT		0.512	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			30	55	0	0	0	0.002445	0	30	55				
CYP4F22	126410	broad.mit.edu	37	19	15651373	15651373	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:15651373C>T	ENST00000269703.3	+	8	983	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R262W	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	262						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GGCGGATGGGCGGAGGTTCCG	0.607																																						ENST00000269703.2																			0				endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						c.(784-786)Cgg>Tgg		cytochrome P450, family 4, subfamily F, polypeptide 22							71.0	67.0	68.0					19																	15651373		2203	4300	6503	SO:0001583	missense	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15651373C>T		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.784C>T	19.37:g.15651373C>T	ENSP00000269703:p.Arg262Trp					CYP4F22_ENST00000601005.2_Missense_Mutation_p.R262W	p.R262W	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN			8	983	+			262					Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	37	c.784C>T	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920442	0.33908	.	.	ENSG00000171954	ENST00000269703	T	0.72167	-0.63	5.39	4.34	0.51931	.	0.115971	0.52532	D	0.000063	T	0.67711	0.2922	L	0.59967	1.855	0.50171	D	0.999851	P	0.38565	0.637	B	0.40444	0.329	T	0.68002	-0.5524	10	0.46703	T	0.11	.	11.3666	0.49675	0.3271:0.6729:0.0:0.0	.	262	Q6NT55	CP4FN_HUMAN	W	262	ENSP00000269703:R262W	ENSP00000269703:R262W	R	+	1	2	CYP4F22	15512373	0.975000	0.34042	1.000000	0.80357	0.220000	0.24768	0.799000	0.27028	1.244000	0.43870	0.453000	0.30009	CGG		0.607	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		29	90	0	0	0	0.007291	0	29	90				
TCEANC2	127428	broad.mit.edu	37	1	54562036	54562036	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:54562036C>T	ENST00000234827.1	+	5	717	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	TCEANC2_ENST00000371331.1_Missense_Mutation_p.R203W|TCEANC2_ENST00000498272.1_3'UTR	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	173	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|lung(3)|pancreas(1)	5						GCCGTACCGGCGGACGGTGAG	0.512																																						ENST00000234827.1																			0				kidney(1)|lung(3)|pancreas(1)	5						c.(517-519)Cgg>Tgg		transcription elongation factor A (SII) N-terminal and central domain containing 2							61.0	70.0	67.0					1																	54562036		2203	4300	6503	SO:0001583	missense	127428				transcription, DNA-dependent	nucleus	DNA binding	g.chr1:54562036C>T	AK056674	CCDS587.1	1p32.3	2011-01-25	2011-01-25	2011-01-25	ENSG00000116205	ENSG00000116205			26494	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 83"""	C1orf83		12477932	Standard	NM_153035		Approved	FLJ32112	uc001cwt.1	Q96MN5	OTTHUMG00000008434	ENST00000234827.1:c.517C>T	1.37:g.54562036C>T	ENSP00000234827:p.Arg173Trp					TCEANC2_ENST00000371331.1_Missense_Mutation_p.R203W|TCEANC2_ENST00000498272.1_3'UTR	p.R173W	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN			5	717	+			173			TFIIS central.		Q5T702|Q8N8N2	Missense_Mutation	SNP	ENST00000234827.1	37	c.517C>T	CCDS587.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988765	0.53934	.	.	ENSG00000116205	ENST00000234827;ENST00000371331	T;T	0.44083	0.93;0.93	5.34	3.39	0.38822	Transcription elongation factor S-II, central domain (3);	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	M	0.72118	2.19	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.66642	-0.5872	10	0.87932	D	0	-7.642	14.5874	0.68335	0.573:0.427:0.0:0.0	.	173	Q96MN5	TEAN2_HUMAN	W	173;203	ENSP00000234827:R173W;ENSP00000360382:R203W	ENSP00000234827:R173W	R	+	1	2	TCEANC2	54334624	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.318000	0.43779	0.578000	0.29487	0.563000	0.77884	CGG		0.512	TCEANC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023245.1	NM_153035		38	20	0	0	0	0.004878	0	38	20				
KIF26B	55083	broad.mit.edu	37	1	245849620	245849620	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:245849620G>T	ENST00000407071.2	+	12	3775	c.3335G>T	c.(3334-3336)gGc>gTc	p.G1112V	KIF26B_ENST00000366518.4_Missense_Mutation_p.G731V	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1112					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AAGGATTCCGGCGTGGCGTCT	0.612																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2191-2193)gGc>gTc		kinesin family member 26B							65.0	73.0	70.0					1																	245849620		1941	4137	6078	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245849620G>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3335G>T	1.37:g.245849620G>T	ENSP00000385545:p.Gly1112Val					KIF26B_ENST00000407071.2_Missense_Mutation_p.G1112V	p.G731V			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	2296	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1112			Kinesin-motor.		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.2192G>T	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	5.072	0.198903	0.09652	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.77229	-1.08;-1.08	5.76	4.85	0.62838	.	.	.	.	.	T	0.65903	0.2736	L	0.52126	1.63	0.19775	N	0.99996	P;P	0.46277	0.498;0.875	B;B	0.36719	0.178;0.231	T	0.56306	-0.8001	9	0.22109	T	0.4	.	6.5086	0.22208	0.2091:0.1343:0.6566:0.0	.	731;1112	B7WPD9;Q2KJY2	.;KI26B_HUMAN	V	1112;731;728	ENSP00000385545:G1112V;ENSP00000355475:G731V	ENSP00000355475:G731V	G	+	2	0	KIF26B	243916243	0.972000	0.33761	0.016000	0.15963	0.004000	0.04260	3.539000	0.53604	1.454000	0.47793	0.549000	0.68633	GGC		0.612	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		56	125	1	0	3.31993e-32	0.003610	5.37951e-32	56	125				
OR2T1	26696	broad.mit.edu	37	1	248569514	248569514	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:248569514C>A	ENST00000366474.1	+	1	219	c.219C>A	c.(217-219)acC>acA	p.T73T		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAAAGGAAACCTCAGGTCTTA	0.423																																						ENST00000366474.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39						c.(217-219)acC>acA		olfactory receptor, family 2, subfamily T, member 1							155.0	146.0	149.0					1																	248569514		2203	4300	6503	SO:0001819	synonymous_variant	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569514C>A	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.219C>A	1.37:g.248569514C>A							p.T73T	NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	219	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		73					Q6IEZ9	Silent	SNP	ENST00000366474.1	37	c.219C>A	CCDS31115.1																																																																																				0.423	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			83	73	1	0	1.20873e-29	0.003610	1.93176e-29	83	73				
MITD1	129531	broad.mit.edu	37	2	99797327	99797327	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:99797327C>T	ENST00000289359.2	-	1	194	c.118G>A	c.(118-120)Gag>Aag	p.E40K	C2orf15_ENST00000512183.2_5'Flank|MRPL30_ENST00000410042.1_Intron|MRPL30_ENST00000338148.3_5'Flank|MITD1_ENST00000466880.1_5'Flank|MRPL30_ENST00000409145.1_5'Flank	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	40	MIT.				cytokinetic cell separation (GO:0000920)|mitotic cytokinesis (GO:0000281)|mitotic cytokinetic cell separation (GO:1902409)|negative regulation of protein binding (GO:0032091)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)	phosphatidylinositol binding (GO:0035091)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(2)|ovary(1)	6						TCAATCCCCTCTTGGTAACAC	0.582																																						ENST00000289359.2																			0				large_intestine(3)|lung(2)|ovary(1)	6						c.(118-120)Gag>Aag		MIT, microtubule interacting and transport, domain containing 1							112.0	112.0	112.0					2																	99797327		2203	4300	6503	SO:0001583	missense	129531				protein transport	late endosome membrane		g.chr2:99797327C>T	BC018453	CCDS2040.1	2q11.2	2006-07-14			ENSG00000158411	ENSG00000158411			25207	protein-coding gene	gene with protein product						16730941	Standard	NM_138798		Approved	LOC129531	uc002szs.1	Q8WV92	OTTHUMG00000130638	ENST00000289359.2:c.118G>A	2.37:g.99797327C>T	ENSP00000289359:p.Glu40Lys					MRPL30_ENST00000410042.1_Intron	p.E40K	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN			1	194	-			40			MIT.		Q69YV0	Missense_Mutation	SNP	ENST00000289359.2	37	c.118G>A	CCDS2040.1	.	.	.	.	.	.	.	.	.	.	C	36	5.966941	0.97156	.	.	ENSG00000158411	ENST00000422537;ENST00000289359;ENST00000409107	T;T;T	0.69685	-0.42;-0.42;-0.42	5.49	5.49	0.81192	MIT (2);	0.000000	0.85682	D	0.000000	T	0.79387	0.4437	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78319	-0.2250	10	0.51188	T	0.08	.	18.5375	0.91015	0.0:1.0:0.0:0.0	.	40	Q8WV92	MITD1_HUMAN	K	22;40;40	ENSP00000413371:E22K;ENSP00000289359:E40K;ENSP00000387316:E40K	ENSP00000289359:E40K	E	-	1	0	MITD1	99163759	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.023000	0.64084	2.845000	0.97973	0.643000	0.83706	GAG		0.582	MITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253126.1	NM_138798		65	104	0	0	0	0.003610	0	65	104				
SNHG14	104472715	broad.mit.edu	37	15	25438354	25438354	+	RNA	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:25438354C>G	ENST00000424208.1	+	0	1213				SNORD115-14_ENST00000363090.1_RNA|SNHG14_ENST00000363358.1_RNA|SNORD115-12_ENST00000362583.1_RNA|SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GTGCTGAGCCCCTGGTGCACT	0.597																																						ENST00000424208.1																			0																																																			104472715							g.chr15:25438354C>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25438354C>G						SNHG14_ENST00000414175.1_RNA		NR_003305.1						0	1213	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.597	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			46	16	0	0	0	0.002222	0	46	16				
IARS	3376	broad.mit.edu	37	9	95009669	95009669	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:95009669G>T	ENST00000375643.3	-	26	3047	c.2781C>A	c.(2779-2781)ttC>ttA	p.F927L	IARS_ENST00000375627.1_5'Flank|IARS_ENST00000443024.2_Missense_Mutation_p.F927L|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.F817L	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	927					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CAGTCTTCTGGAACTGCTCCA	0.483																																						ENST00000375643.3																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(2779-2781)ttC>ttA		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						136.0	113.0	121.0					9																	95009669		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95009669G>T	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.2781C>A	9.37:g.95009669G>T	ENSP00000364794:p.Phe927Leu					IARS_ENST00000447699.2_Missense_Mutation_p.F817L|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.F927L	p.F927L	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN			26	3047	-			927					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.2781C>A	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464677	0.26335	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000449893	T;T;T	0.10573	2.87;2.87;2.86	5.66	2.6	0.31112	.	0.043486	0.85682	D	0.000000	T	0.14570	0.0352	M	0.69823	2.125	0.80722	D	1	B;B;B	0.30664	0.289;0.007;0.003	B;B;B	0.36845	0.234;0.018;0.008	T	0.02417	-1.1162	10	0.48119	T	0.1	-18.4395	7.5258	0.27653	0.2281:0.1332:0.6388:0.0	.	437;927;772	F5H1M4;P41252;Q6P0M4	.;SYIC_HUMAN;.	L	927;927;817;927;159	ENSP00000364794:F927L;ENSP00000406448:F927L;ENSP00000415020:F817L	ENSP00000364794:F927L	F	-	3	2	IARS	94049490	1.000000	0.71417	0.973000	0.42090	0.132000	0.20833	2.626000	0.46460	0.736000	0.32559	0.563000	0.77884	TTC		0.483	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		24	53	1	0	2.24059e-21	0.006320	3.42449e-21	24	53				
TRIM39	56658	broad.mit.edu	37	6	30297275	30297275	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:30297275G>A	ENST00000396547.1	+	2	341	c.181G>A	c.(181-183)Gag>Aag	p.E61K	HCG18_ENST00000426882.1_RNA|TRIM39_ENST00000376659.5_Missense_Mutation_p.E61K|TRIM39_ENST00000396551.3_Missense_Mutation_p.E61K|HCG18_ENST00000412685.2_RNA|TRIM39_ENST00000396548.1_Missense_Mutation_p.E61K|TRIM39_ENST00000376656.4_Missense_Mutation_p.E61K|TRIM39-RPP21_ENST00000513556.1_5'Flank|TRIM39_ENST00000540416.1_Missense_Mutation_p.E61K|HCG18_ENST00000413358.2_RNA			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	61					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						GGAGGACCTAGAGAGGGACTT	0.542																																						ENST00000376659.5																			0				ovary(3)	3						c.(181-183)Gag>Aag		tripartite motif containing 39							160.0	142.0	149.0					6																	30297275		1510	2709	4219	SO:0001583	missense	56658							g.chr6:30297275G>A	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.181G>A	6.37:g.30297275G>A	ENSP00000379796:p.Glu61Lys					TRIM39_ENST00000396551.3_Missense_Mutation_p.E61K|TRIM39_ENST00000396547.1_Missense_Mutation_p.E61K|TRIM39_ENST00000396548.1_Missense_Mutation_p.E61K|TRIM39_ENST00000540416.1_Missense_Mutation_p.E61K|TRIM39_ENST00000376656.4_Missense_Mutation_p.E61K	p.E61K	NM_172016.2	NP_742013.1					3	779	+								Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	c.181G>A	CCDS34377.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095120	0.56075	.	.	ENSG00000204599	ENST00000458516;ENST00000440271;ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000428728;ENST00000396548;ENST00000376659;ENST00000396547	T;T;T;T;T;T;T;T;T	0.08102	3.13;3.13;3.13;3.13;3.13;3.13;3.13;3.13;3.13	5.15	4.27	0.50696	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.53938	D	0.000045	T	0.01661	0.0053	N	0.02830	-0.485	0.36415	D	0.863987	P;B	0.36086	0.536;0.012	B;B	0.40702	0.338;0.022	T	0.55244	-0.8171	10	0.21540	T	0.41	.	11.5226	0.50560	0.0:0.1802:0.8198:0.0	.	61;61	Q9HCM9;Q9HCM9-2	TRI39_HUMAN;.	K	61	ENSP00000405928:E61K;ENSP00000394768:E61K;ENSP00000379800:E61K;ENSP00000365844:E61K;ENSP00000439400:E61K;ENSP00000406019:E61K;ENSP00000379797:E61K;ENSP00000365847:E61K;ENSP00000379796:E61K	ENSP00000365844:E61K	E	+	1	0	TRIM39	30405254	0.492000	0.26027	0.998000	0.56505	0.980000	0.70556	1.210000	0.32370	1.364000	0.46038	0.561000	0.74099	GAG		0.542	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		48	83	0	0	0	0.003610	0	48	83				
OR4A47	403253	broad.mit.edu	37	11	48511249	48511249	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:48511249G>T	ENST00000446524.1	+	1	981	c.905G>T	c.(904-906)aGa>aTa	p.R302I		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						CTCTGGAGAAGAGACCTCATA	0.413																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(904-906)aGa>aTa		olfactory receptor, family 4, subfamily A, member 47							82.0	80.0	81.0					11																	48511249		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511249G>T	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.905G>T	11.37:g.48511249G>T	ENSP00000412752:p.Arg302Ile						p.R302I	NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN			1	981	+			302						Missense_Mutation	SNP	ENST00000446524.1	37	c.905G>T	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	18.54	3.645231	0.67358	.	.	ENSG00000237388	ENST00000446524	T	0.39229	1.09	4.59	-2.76	0.05896	.	0.485335	0.18935	N	0.127117	T	0.34687	0.0906	L	0.31845	0.965	0.09310	N	0.999999	D	0.56746	0.977	P	0.53313	0.723	T	0.26189	-1.0110	10	0.54805	T	0.06	.	5.5381	0.17023	0.5959:0.0:0.2575:0.1467	.	302	Q6IF82	O4A47_HUMAN	I	302	ENSP00000412752:R302I	ENSP00000412752:R302I	R	+	2	0	OR4A47	48467825	0.000000	0.05858	0.000000	0.03702	0.509000	0.34042	-0.085000	0.11250	-0.311000	0.08754	0.205000	0.17691	AGA		0.413	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		28	50	1	0	1.77063e-15	0.005443	2.52947e-15	28	50				
KANSL1L	151050	broad.mit.edu	37	2	210893657	210893657	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:210893657A>C	ENST00000281772.9	-	11	2571	c.2308T>G	c.(2308-2310)Tat>Gat	p.Y770D	AC007038.7_ENST00000452057.1_RNA|RP11-260M2.1_ENST00000608095.1_RNA|KANSL1L_ENST00000418791.1_Missense_Mutation_p.Y728D	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	770						histone acetyltransferase complex (GO:0000123)											TCTATGTCATAAGAGCTCTCA	0.368																																						ENST00000281772.9																			0											c.(2308-2310)Tat>Gat		KAT8 regulatory NSL complex subunit 1-like							144.0	137.0	139.0					2																	210893657		2203	4300	6503	SO:0001583	missense	151050							g.chr2:210893657A>C	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2308T>G	2.37:g.210893657A>C	ENSP00000281772:p.Tyr770Asp					KANSL1L_ENST00000418791.1_Missense_Mutation_p.Y728D	p.Y770D	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN			11	2571	-			770					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.2308T>G	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.233115	0.79688	.	.	ENSG00000144445	ENST00000281772;ENST00000418791	.	.	.	5.19	5.19	0.71726	.	0.369996	0.25795	N	0.028253	T	0.77980	0.4212	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.80841	-0.1202	9	0.87932	D	0	.	14.713	0.69247	1.0:0.0:0.0:0.0	.	728;770	A0AUZ9-2;A0AUZ9	.;CB067_HUMAN	D	770;728	.	ENSP00000281772:Y770D	Y	-	1	0	C2orf67	210601902	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.775000	0.85489	1.961000	0.56991	0.460000	0.39030	TAT		0.368	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		45	65	0	0	0	0.003214	0	45	65				
MYO18B	84700	broad.mit.edu	37	22	26242186	26242186	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr22:26242186C>A	ENST00000407587.2	+	19	3660	c.3491C>A	c.(3490-3492)aCc>aAc	p.T1164N	MYO18B_ENST00000536101.1_Missense_Mutation_p.T1163N|MYO18B_ENST00000335473.7_Missense_Mutation_p.T1163N			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1163	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTGAGGAGGACCTTTGCCAGC	0.667																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(3487-3489)aCc>aAc		myosin XVIIIB							65.0	76.0	72.0					22																	26242186		2143	4236	6379	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26242186C>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3491C>A	22.37:g.26242186C>A	ENSP00000386096:p.Thr1164Asn					MYO18B_ENST00000407587.2_Missense_Mutation_p.T1164N|MYO18B_ENST00000536101.1_Missense_Mutation_p.T1163N	p.T1163N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			19	3738	+			1163			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.3488C>A		.	.	.	.	.	.	.	.	.	.	C	16.98	3.272695	0.59649	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87103	-2.21;-2.21;-2.21	4.21	4.21	0.49690	Myosin head, motor domain (2);	0.325367	0.30732	N	0.008999	D	0.92410	0.7591	M	0.77486	2.375	0.29004	N	0.88732	D;D;D;D	0.64830	0.987;0.994;0.971;0.992	P;D;P;D	0.67382	0.872;0.951;0.763;0.918	D	0.88153	0.2852	10	0.62326	D	0.03	.	14.1257	0.65219	0.0:1.0:0.0:0.0	.	676;1163;1164;1163	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	N	1163;1163;1164	ENSP00000441229:T1163N;ENSP00000334563:T1163N;ENSP00000386096:T1164N	ENSP00000334563:T1163N	T	+	2	0	MYO18B	24572186	0.864000	0.29904	0.081000	0.20488	0.493000	0.33554	2.059000	0.41384	2.196000	0.70406	0.561000	0.74099	ACC		0.667	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		27	36	1	0	1.04121e-07	0.005443	1.33002e-07	27	36				
CPS1	1373	broad.mit.edu	37	2	211473158	211473158	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:211473158G>A	ENST00000233072.5	+	19	2462	c.2266G>A	c.(2266-2268)Ggg>Agg	p.G756R	CPS1_ENST00000451903.2_Missense_Mutation_p.G305R|CPS1_ENST00000430249.2_Missense_Mutation_p.G762R	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	756					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CGTCGTATCCGGGAAGACATC	0.433																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(2266-2268)Ggg>Agg		carbamoyl-phosphate synthase 1, mitochondrial							130.0	124.0	126.0					2																	211473158		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211473158G>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2266G>A	2.37:g.211473158G>A	ENSP00000233072:p.Gly756Arg					CPS1_ENST00000451903.2_Missense_Mutation_p.G305R|CPS1_ENST00000430249.2_Missense_Mutation_p.G762R	p.G756R	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	19	2462	+			756					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2266G>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562701	0.27915	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97256	-4.31;-4.31;-4.31	6.16	6.16	0.99307	ATP-grasp fold, subdomain 2 (1);	0.098532	0.64402	D	0.000001	D	0.94951	0.8367	L	0.48935	1.535	0.58432	D	0.999998	P;P	0.38535	0.635;0.635	B;B	0.31442	0.13;0.13	D	0.93637	0.6961	10	0.39692	T	0.17	-5.3045	20.8598	0.99761	0.0:0.0:1.0:0.0	.	766;756	Q59HF8;P31327	.;CPSM_HUMAN	R	762;764;756;305	ENSP00000402608:G762R;ENSP00000233072:G756R;ENSP00000406136:G305R	ENSP00000233072:G756R	G	+	1	0	CPS1	211181403	1.000000	0.71417	0.992000	0.48379	0.248000	0.25809	7.289000	0.78701	2.937000	0.99478	0.650000	0.86243	GGG		0.433	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			76	85	0	0	0	0.003610	0	76	85				
TNS1	7145	broad.mit.edu	37	2	218751275	218751275	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:218751275T>A	ENST00000171887.4	-	11	1038	c.586A>T	c.(586-588)Aac>Tac	p.N196Y	TNS1_ENST00000430930.1_Missense_Mutation_p.N196Y|TNS1_ENST00000310858.6_Missense_Mutation_p.N227Y|TNS1_ENST00000419504.1_Missense_Mutation_p.N196Y	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	196	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GACTCAAAGTTGGGGATGCCG	0.522											OREG0015188	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(586-588)Aac>Tac		tensin 1							125.0	102.0	110.0					2																	218751275		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218751275T>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.586A>T	2.37:g.218751275T>A	ENSP00000171887:p.Asn196Tyr		OREG0015188	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2253	TNS1_ENST00000419504.1_Missense_Mutation_p.N196Y|TNS1_ENST00000310858.6_Missense_Mutation_p.N227Y|TNS1_ENST00000430930.1_Missense_Mutation_p.N196Y	p.N196Y	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	11	1038	-		Renal(207;0.0483)|Lung NSC(271;0.213)	196			C2 tensin-type.		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.586A>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.240404	0.79912	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858	D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	5.16	5.16	0.70880	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	D	0.92496	0.7617	M	0.83012	2.62	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.537;0.987;0.982;1.0;1.0	D;P;D;P;D;D	0.97110	1.0;0.722;0.956;0.904;1.0;1.0	D	0.93268	0.6649	9	0.59425	D	0.04	.	15.1521	0.72709	0.0:0.0:0.0:1.0	.	196;250;227;196;196;196	B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55	.;.;.;TENS1_HUMAN;.;.	Y	196;196;196;321;264;227	ENSP00000171887:N196Y;ENSP00000408724:N196Y;ENSP00000406016:N196Y;ENSP00000405460:N321Y;ENSP00000400383:N264Y;ENSP00000308321:N227Y	ENSP00000171887:N196Y	N	-	1	0	TNS1	218459520	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.029000	0.70895	2.169000	0.68431	0.486000	0.48141	AAC		0.522	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		15	5	0	0	0	0.003163	0	15	5				
AKAP13	11214	broad.mit.edu	37	15	86124699	86124699	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:86124699G>A	ENST00000394518.2	+	7	3495	c.3400G>A	c.(3400-3402)Gtg>Atg	p.V1134M	AKAP13_ENST00000361243.2_Missense_Mutation_p.V1134M|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1134					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGGTTTGCCAGTGGCTCTACA	0.507																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(3400-3402)Gtg>Atg		A kinase (PRKA) anchor protein 13							91.0	85.0	87.0					15																	86124699		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86124699G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.3400G>A	15.37:g.86124699G>A	ENSP00000378026:p.Val1134Met					AKAP13_ENST00000361243.2_Missense_Mutation_p.V1134M	p.V1134M	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			7	3495	+			1134					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.3400G>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499781	0.26861	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.12672	2.66;2.66	4.89	4.89	0.63831	.	.	.	.	.	T	0.12008	0.0292	N	0.14661	0.345	0.80722	D	1	P;P	0.51791	0.913;0.948	B;P	0.47162	0.339;0.54	T	0.07616	-1.0763	9	0.49607	T	0.09	.	13.5355	0.61644	0.0:0.0:1.0:0.0	.	1134;1134	Q12802;Q12802-2	AKP13_HUMAN;.	M	1134;1134;1133;1133	ENSP00000354718:V1134M;ENSP00000378026:V1134M	ENSP00000354718:V1134M	V	+	1	0	AKAP13	83925703	0.962000	0.33011	0.534000	0.28014	0.018000	0.09664	1.823000	0.39062	2.217000	0.71921	0.655000	0.94253	GTG		0.507	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		64	19	0	0	0	0.003610	0	64	19				
PABPC4	8761	broad.mit.edu	37	1	40030930	40030930	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:40030930C>A	ENST00000372857.3	-	8	1885	c.1093G>T	c.(1093-1095)Gtt>Ttt	p.V365F	PABPC4_ENST00000372858.3_Missense_Mutation_p.V365F|PABPC4_ENST00000372856.3_Missense_Mutation_p.V365F|SNORA55_ENST00000364587.1_RNA|PABPC4_ENST00000372862.3_Missense_Mutation_p.V365F|RP11-69E11.8_ENST00000415255.1_RNA	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	365	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCCAGGGCAACATATAGTGGC	0.507																																						ENST00000372857.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21						c.(1093-1095)Gtt>Ttt		poly(A) binding protein, cytoplasmic 4 (inducible form)							107.0	90.0	96.0					1																	40030930		2203	4300	6503	SO:0001583	missense	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40030930C>A	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1093G>T	1.37:g.40030930C>A	ENSP00000361948:p.Val365Phe					PABPC4_ENST00000372856.3_Missense_Mutation_p.V365F|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.V365F|PABPC4_ENST00000372862.3_Missense_Mutation_p.V365F	p.V365F	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		8	1885	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	365			RRM 4.		B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	c.1093G>T	CCDS438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.955818|4.955818	0.92726|0.92726	.|.	.|.	ENSG00000090621|ENSG00000090621	ENST00000421687;ENST00000527718|ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856	.|T;T;T;T	.|0.10288	.|2.89;2.89;2.89;2.89	6.06|6.06	5.14|5.14	0.70334|0.70334	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51024|0.51024	0.1650|0.1650	H|H	0.98446|0.98446	4.235|4.235	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.85130	.|0.972;0.997;0.986	T|T	0.69367|0.69367	-0.5164|-0.5164	5|10	.|0.87932	.|D	.|0	.|.	15.7739|15.7739	0.78193|0.78193	0.0:0.934:0.0:0.066|0.0:0.934:0.0:0.066	.|.	.|365;365;365	.|Q13310;Q13310-2;Q4VC03	.|PABP4_HUMAN;.;.	I|F	266;91|365	.|ENSP00000361953:V365F;ENSP00000361949:V365F;ENSP00000361948:V365F;ENSP00000361947:V365F	.|ENSP00000361947:V365F	M|V	-|-	3|1	0|0	PABPC4|PABPC4	39803517|39803517	1.000000|1.000000	0.71417|0.71417	0.891000|0.891000	0.34965|0.34965	0.975000|0.975000	0.68041|0.68041	6.060000|6.060000	0.71141|0.71141	2.879000|2.879000	0.98667|0.98667	0.650000|0.650000	0.86243|0.86243	ATG|GTT		0.507	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		30	17	1	0	8.4185e-14	0.002445	1.16924e-13	30	17				
ZDBF2	57683	broad.mit.edu	37	2	207170044	207170044	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:207170044G>C	ENST00000374423.3	+	5	1178	c.792G>C	c.(790-792)atG>atC	p.M264I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	264							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CTTTACGCATGAATTCAGATA	0.388																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(790-792)atG>atC		zinc finger, DBF-type containing 2							29.0	28.0	29.0					2																	207170044		1831	4078	5909	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207170044G>C	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.792G>C	2.37:g.207170044G>C	ENSP00000363545:p.Met264Ile						p.M264I	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	1178	+			264					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.792G>C	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.682746	0.00101	.	.	ENSG00000204186	ENST00000374423	T	0.16457	2.34	5.11	-0.172	0.13327	.	1.300300	0.05692	N	0.592470	T	0.04318	0.0119	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37056	-0.9722	10	0.05436	T	0.98	.	4.646	0.12572	0.351:0.0:0.4608:0.1882	.	264	Q9HCK1	ZDBF2_HUMAN	I	264	ENSP00000363545:M264I	ENSP00000363545:M264I	M	+	3	0	ZDBF2	206878289	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.205000	0.09411	0.009000	0.14813	-1.000000	0.02509	ATG		0.388	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		30	25	0	0	0	0.008361	0	30	25				
UBBP4	23666	broad.mit.edu	37	17	21731491	21731491	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:21731491C>A	ENST00000578713.1	+	2	570	c.566C>A	c.(565-567)cCc>cAc	p.P189H	UBBP4_ENST00000584755.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GAAGGCATCCCCCCCGATCAG	0.537																																						ENST00000578713.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(565-567)cCc>cAc																																						SO:0001583	missense	23666							g.chr17:21731491C>A	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.566C>A	17.37:g.21731491C>A	ENSP00000464265:p.Pro189His					UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_3'UTR	p.P189H							2	570	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.566C>A																																																																																					0.537	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			21	37	1	0	2.37509e-13	0.001523	3.2857e-13	21	37				
HSF2BP	11077	broad.mit.edu	37	21	45076541	45076541	+	Silent	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr21:45076541T>A	ENST00000291560.2	-	3	445	c.114A>T	c.(112-114)atA>atT	p.I38I	RRP1B_ENST00000340648.4_5'Flank|HSF2BP_ENST00000542962.1_Intron	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	38					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		AGAAGTCCCGTATTTGCATCA	0.393																																						ENST00000291560.2																			0				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7						c.(112-114)atA>atT		heat shock transcription factor 2 binding protein							163.0	156.0	158.0					21																	45076541		2203	4300	6503	SO:0001819	synonymous_variant	11077				spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding	g.chr21:45076541T>A	AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"""heat shock factor 2 binding protein"""	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.114A>T	21.37:g.45076541T>A						HSF2BP_ENST00000542962.1_Intron	p.I38I	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)	3	445	-			38					B4DX36	Silent	SNP	ENST00000291560.2	37	c.114A>T	CCDS13697.1																																																																																				0.393	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195620.1	NM_007031		39	51	0	0	0	0.006999	0	39	51				
ZNF804B	219578	broad.mit.edu	37	7	88847532	88847532	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:88847532G>T	ENST00000333190.4	+	2	781	c.172G>T	c.(172-174)Gaa>Taa	p.E58*		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	58							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTTTTACTGTGAATTATGTGA	0.368										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(172-174)Gaa>Taa		zinc finger protein 804B							98.0	95.0	96.0					7																	88847532		2203	4300	6503	SO:0001587	stop_gained	219578					intracellular	zinc ion binding	g.chr7:88847532G>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.172G>T	7.37:g.88847532G>T	ENSP00000329638:p.Glu58*	HNSCC(36;0.09)					p.E58*	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		2	781	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		58					B2RTV2|Q7Z714|Q96MN7	Nonsense_Mutation	SNP	ENST00000333190.4	37	c.172G>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	43	9.950189	0.99303	.	.	ENSG00000182348	ENST00000333190	.	.	.	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.4128	19.1711	0.93578	0.0:0.0:1.0:0.0	.	.	.	.	X	58	.	ENSP00000329638:E58X	E	+	1	0	ZNF804B	88685468	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.774000	0.95407	0.484000	0.47621	GAA		0.368	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		26	29	1	0	1.1804e-14	0.003954	1.67263e-14	26	29				
CCDC132	55610	broad.mit.edu	37	7	92887685	92887685	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:92887685G>T	ENST00000305866.5	+	8	685	c.557G>T	c.(556-558)cGg>cTg	p.R186L	CCDC132_ENST00000544910.1_Missense_Mutation_p.R156L|CCDC132_ENST00000251739.5_Missense_Mutation_p.R186L|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	186						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ACAGATGTACGGTTAAGTGAA	0.299																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(466-468)cGg>cTg		coiled-coil domain containing 132							115.0	120.0	119.0					7																	92887685		2203	4300	6503	SO:0001583	missense	55610							g.chr7:92887685G>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.557G>T	7.37:g.92887685G>T	ENSP00000307666:p.Arg186Leu					CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000251739.5_Missense_Mutation_p.R186L|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000305866.5_Missense_Mutation_p.R186L|CCDC132_ENST00000535481.1_Intron	p.R156L	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		9	687	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		186					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.467G>T	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692230	0.88735	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000458530	.	.	.	5.5	4.61	0.57282	Vacuolar protein sorting-associated protein 54 (1);	0.000000	0.85682	D	0.000000	T	0.77791	0.4183	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	0.991;0.997;1.0	P;D;D	0.81914	0.885;0.995;0.981	T	0.79690	-0.1698	9	0.51188	T	0.08	8.6968	16.0506	0.80760	0.0:0.0:0.8647:0.1353	.	156;186;186	F5H5U7;Q96JG6;Q96JG6-2	.;CC132_HUMAN;.	L	186;186;156;185	.	ENSP00000251739:R186L	R	+	2	0	CCDC132	92725621	1.000000	0.71417	0.992000	0.48379	0.942000	0.58702	9.869000	0.99810	1.449000	0.47699	0.585000	0.79938	CGG		0.299	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		20	52	1	0	3.5997e-14	0.002299	5.05982e-14	20	52				
OR52L1	338751	broad.mit.edu	37	11	6007529	6007529	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:6007529G>T	ENST00000332249.4	-	1	686	c.632C>A	c.(631-633)aCa>aAa	p.T211K		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGATTGACTGTGGTTTCTGA	0.493																																					Melanoma(121;653 1666 10547 22796 51255)	ENST00000332249.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30						c.(631-633)aCa>aAa		olfactory receptor, family 52, subfamily L, member 1							124.0	115.0	118.0					11																	6007529		2000	4172	6172	SO:0001583	missense	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6007529G>T	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.632C>A	11.37:g.6007529G>T	ENSP00000330338:p.Thr211Lys						p.T211K	NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	686	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	211					B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	c.632C>A	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	G	1.732	-0.493936	0.04322	.	.	ENSG00000183313	ENST00000332249	T	0.00044	8.83	3.95	2.94	0.34122	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000394	T	0.00144	0.0004	N	0.12831	0.26	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.55509	-0.8130	10	0.02654	T	1	.	6.8404	0.23959	0.0:0.3118:0.5146:0.1736	.	211	Q8NGH7	O52L1_HUMAN	K	211	ENSP00000330338:T211K	ENSP00000330338:T211K	T	-	2	0	OR52L1	5964105	0.000000	0.05858	0.990000	0.47175	0.067000	0.16453	-1.207000	0.03008	1.914000	0.55421	0.313000	0.20887	ACA		0.493	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		55	99	1	0	5.22555e-25	0.003610	8.12864e-25	55	99				
GRIA4	2893	broad.mit.edu	37	11	105789531	105789531	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:105789531G>C	ENST00000530497.1	+	10	1363	c.1363G>C	c.(1363-1365)Gca>Cca	p.A455P	GRIA4_ENST00000525187.1_Missense_Mutation_p.A455P|GRIA4_ENST00000282499.5_Missense_Mutation_p.A455P|GRIA4_ENST00000393127.2_Missense_Mutation_p.A455P			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	455					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		ATCTGAAATTGCAAAACATAT	0.353																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(1363-1365)Gca>Cca		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						92.0	87.0	89.0					11																	105789531		2202	4299	6501	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105789531G>C	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1363G>C	11.37:g.105789531G>C	ENSP00000435775:p.Ala455Pro					GRIA4_ENST00000530497.1_Missense_Mutation_p.A455P|GRIA4_ENST00000525187.1_Missense_Mutation_p.A455P|GRIA4_ENST00000282499.5_Missense_Mutation_p.A455P	p.A455P	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	11	1809	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	455					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.1363G>C	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.995749	0.93167	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.46	5.46	0.80206	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000002	D	0.93569	0.7947	H	0.96889	3.9	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.74674	0.984;0.956	D	0.95237	0.8348	10	0.87932	D	0	.	19.6752	0.95928	0.0:0.0:1.0:0.0	.	455;455	P48058;G3V164	GRIA4_HUMAN;.	P	455	ENSP00000282499:A455P;ENSP00000376835:A455P;ENSP00000435775:A455P;ENSP00000432180:A455P	ENSP00000282499:A455P	A	+	1	0	GRIA4	105294741	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.718000	0.92993	0.650000	0.86243	GCA		0.353	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			13	5	0	0	0	0.001368	0	13	5				
PDE10A	10846	broad.mit.edu	37	6	165957010	165957010	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:165957010C>A	ENST00000366882.1	-	3	238	c.84G>T	c.(82-84)caG>caT	p.Q28H	PDE10A_ENST00000354448.4_Missense_Mutation_p.Q28H|PDE10A_ENST00000539869.2_Missense_Mutation_p.Q38H			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	28					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.Q28fs*5(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CATCTAATACCTGGGGGTGAA	0.358																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			1	Insertion - Frameshift(1)	p.Q28fs*5(1)	breast(1)	breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(82-84)caG>caT		phosphodiesterase 10A	Dipyridamole(DB00975)						138.0	131.0	134.0					6																	165957010		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165957010C>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.84G>T	6.37:g.165957010C>A	ENSP00000355847:p.Gln28His					PDE10A_ENST00000354448.4_Missense_Mutation_p.Q28H|PDE10A_ENST00000539869.2_Missense_Mutation_p.Q38H	p.Q28H			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	3	238	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	28					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.84G>T		.	.	.	.	.	.	.	.	.	.	C	19.90	3.912389	0.72983	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.71817	-0.6;-0.6	5.49	2.78	0.32641	.	0.058526	0.64402	D	0.000001	T	0.69913	0.3164	L	0.53249	1.67	0.43195	D	0.995035	D;D	0.58970	0.98;0.984	D;P	0.69654	0.965;0.527	T	0.70648	-0.4814	10	0.51188	T	0.08	.	10.3374	0.43858	0.0:0.7863:0.0:0.2137	.	38;28	Q9ULW9;Q9Y233	.;PDE10_HUMAN	H	28;56;38;28;27	ENSP00000355847:Q28H;ENSP00000346435:Q28H	ENSP00000341187:Q38H	Q	-	3	2	PDE10A	165877000	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.553000	0.36255	0.388000	0.25054	0.585000	0.79938	CAG		0.358	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			18	28	1	0	5.03518e-11	0.007413	6.72639e-11	18	28				
THRA	7067	broad.mit.edu	37	17	38249328	38249328	+	Missense_Mutation	SNP	C	C	A	rs201283167		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:38249328C>A	ENST00000264637.4	+	10	1746	c.1166C>A	c.(1165-1167)cCg>cAg	p.P389Q	NR1D1_ENST00000246672.3_3'UTR|THRA_ENST00000394121.4_Missense_Mutation_p.P389Q|THRA_ENST00000584985.1_Intron	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	389					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GAAGGCCGGCCGGGCGGGTCA	0.552																																						ENST00000264637.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(1165-1167)cCg>cAg		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)						40.0	46.0	44.0					17																	38249328		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38249328C>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.1166C>A	17.37:g.38249328C>A	ENSP00000264637:p.Pro389Gln					THRA_ENST00000584985.1_Intron|THRA_ENST00000394121.4_Missense_Mutation_p.P389Q|NR1D1_ENST00000246672.3_3'UTR	p.P389Q	NM_003250.5	NP_003241.2	P10827	THA_HUMAN			10	1746	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	389					A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.1166C>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.496592	0.26861	.	.	ENSG00000126351	ENST00000394121;ENST00000264637	D;D	0.92149	-2.98;-2.98	4.9	2.83	0.33086	.	0.274718	0.33916	N	0.004437	T	0.77605	0.4155	N	0.08118	0	0.80722	D	1	B	0.31879	0.344	B	0.22386	0.039	T	0.74080	-0.3780	10	0.31617	T	0.26	.	5.9447	0.19211	0.0:0.7025:0.1953:0.1021	.	389	P10827	THA_HUMAN	Q	389	ENSP00000377679:P389Q;ENSP00000264637:P389Q	ENSP00000264637:P389Q	P	+	2	0	THRA	35502854	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	0.663000	0.25053	2.538000	0.85594	0.563000	0.77884	CCG		0.552	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			31	57	1	0	4.4194e-11	0.002836	5.9264e-11	31	57				
ZNF878	729747	broad.mit.edu	37	19	12155285	12155285	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:12155285A>G	ENST00000547628.1	-	4	1068	c.931T>C	c.(931-933)Tat>Cat	p.Y311H	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.Y358H|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TTACACTCATAGGGTTTCTCT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(1072-1074)Tat>Cat		zinc finger protein 878							77.0	85.0	82.0					19																	12155285		2171	4286	6457	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155285A>G		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.931T>C	19.37:g.12155285A>G	ENSP00000447931:p.Tyr311His					CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.Y311H|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA	p.Y358H			C9JN71	ZN878_HUMAN			5	1071	-			311						Missense_Mutation	SNP	ENST00000547628.1	37	c.1072T>C	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	A	13.05	2.122860	0.37436	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.21734	1.99	1.3	0.136	0.14780	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32496	0.0831	L	0.58510	1.815	0.09310	N	1	D	0.56521	0.976	P	0.62089	0.898	T	0.12760	-1.0535	9	0.48119	T	0.1	.	5.2025	0.15273	0.8209:0.0:0.1791:0.0	.	311	C9JN71	ZN878_HUMAN	H	311;358	ENSP00000447931:Y311H	ENSP00000447931:Y311H	Y	-	1	0	AC022415.4;ZNF878	12016285	0.014000	0.17966	0.005000	0.12908	0.263000	0.26337	1.635000	0.37134	-0.226000	0.09899	0.260000	0.18958	TAT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		33	74	0	0	0	0.002445	0	33	74				
IGLC2	3538	broad.mit.edu	37	22	23241819	23241819	+	RNA	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr22:23241819C>A	ENST00000390323.2	+	0	0				IGLJ2_ENST00000390322.2_RNA			P0CG05	LAC2_HUMAN	immunoglobulin lambda constant 2 (Kern-Oz- marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GCGGAGGGACCAAGCTGACCG	0.542																																						ENST00000390322.2																			0																				159.0	145.0	150.0					22																	23241819		1996	4164	6160			28832							g.chr22:23241819C>A	J00253		22q11.2	2012-02-08			ENSG00000211677	ENSG00000211677		"""Immunoglobulins / IGL locus"""	5856	other	immunoglobulin gene				IGLC			Standard	NG_000002		Approved			P0CG05	OTTHUMG00000151214		22.37:g.23241819C>A														0	159	+								A0M8Q4|P80423	RNA	SNP	ENST00000390323.2	37																																																																																						0.542	IGLC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000321818.3	NG_000002		39	45	1	0	6.1244e-12	0.007835	8.27622e-12	39	45				
ALG13	79868	broad.mit.edu	37	X	110924494	110924494	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:110924494C>T	ENST00000394780.3	+	1	60	c.48C>T	c.(46-48)ctC>ctT	p.L16L	ALG13_ENST00000251943.4_5'UTR|ALG13_ENST00000371979.3_Silent_p.L16L	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	16	Glycosyltransferase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						TTGACGACCTCATTGCGTGTG	0.632																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(46-48)ctC>ctT		ALG13, UDP-N-acetylglucosaminyltransferase subunit							203.0	158.0	174.0					X																	110924494		2203	4300	6503	SO:0001819	synonymous_variant	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110924494C>T	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.48C>T	X.37:g.110924494C>T						ALG13_ENST00000371979.3_Silent_p.L16L|ALG13_ENST00000251943.4_5'UTR	p.L16L	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			1	60	+			16					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	ENST00000394780.3	37	c.48C>T	CCDS55477.1																																																																																				0.632	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		123	30	0	0	0	0.003610	0	123	30				
BIRC6	57448	broad.mit.edu	37	2	32728276	32728276	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:32728276G>A	ENST00000421745.2	+	49	9606	c.9472G>A	c.(9472-9474)Gaa>Aaa	p.E3158K		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3158					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGACAATGCTGAAGGGATTCA	0.338																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(9472-9474)Gaa>Aaa		baculoviral IAP repeat containing 6							82.0	81.0	81.0					2																	32728276		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32728276G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.9472G>A	2.37:g.32728276G>A	ENSP00000393596:p.Glu3158Lys						p.E3158K	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			49	9606	+	Acute lymphoblastic leukemia(172;0.155)		3158					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.9472G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896191	0.91962	.	.	ENSG00000115760	ENST00000421745	T	0.75589	-0.95	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84777	0.5547	L	0.53249	1.67	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.83792	0.0231	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	3158	Q9NR09	BIRC6_HUMAN	K	3158	ENSP00000393596:E3158K	ENSP00000393596:E3158K	E	+	1	0	BIRC6	32581780	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAA		0.338	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		7	17	0	0	0	0.004482	0	7	17				
RECQL5	9400	broad.mit.edu	37	17	73657115	73657115	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:73657115C>G	ENST00000317905.5	-	6	1065	c.906G>C	c.(904-906)caG>caC	p.Q302H	RECQL5_ENST00000340830.5_Missense_Mutation_p.Q302H|RECQL5_ENST00000423245.2_Missense_Mutation_p.Q275H|RECQL5_ENST00000584999.1_Missense_Mutation_p.Q302H|RECQL5_ENST00000420326.2_Missense_Mutation_p.Q302H	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	302	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCCAGTCGTTCTGCACCAGCG	0.512								Other identified genes with known or suspected DNA repair function																														ENST00000420326.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(904-906)caG>caC	Other identified genes with known or suspected DNA repair function	RecQ protein-like 5							168.0	137.0	148.0					17																	73657115		2203	4300	6503	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73657115C>G	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.906G>C	17.37:g.73657115C>G	ENSP00000317636:p.Gln302His					RECQL5_ENST00000317905.5_Missense_Mutation_p.Q302H|RECQL5_ENST00000423245.2_Missense_Mutation_p.Q275H|RECQL5_ENST00000584999.1_Missense_Mutation_p.Q302H|RECQL5_ENST00000340830.5_Missense_Mutation_p.Q302H	p.Q302H	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		6	1065	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		302			Helicase C-terminal.		Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.906G>C	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897586	0.33535	.	.	ENSG00000108469	ENST00000423245;ENST00000317905;ENST00000420326;ENST00000340830	T;T;T	0.75367	-0.93;-0.93;-0.93	5.6	3.27	0.37495	Helicase, C-terminal (3);	0.056914	0.64402	D	0.000001	D	0.84447	0.5474	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	D	0.86487	0.1795	10	0.87932	D	0	-14.6098	13.089	0.59156	0.0:0.8472:0.0:0.1527	.	302;275;302	O94762;Q6P4G0;O94762-3	RECQ5_HUMAN;.;.	H	302	ENSP00000317636:Q302H;ENSP00000414933:Q302H;ENSP00000341983:Q302H	ENSP00000317636:Q302H	Q	-	3	2	RECQL5	71168710	1.000000	0.71417	0.999000	0.59377	0.873000	0.50193	4.935000	0.63498	1.369000	0.46134	0.561000	0.74099	CAG		0.512	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		14	110	0	0	0	0.001855	0	14	110				
PANK3	79646	broad.mit.edu	37	5	168006280	168006280	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:168006280G>A	ENST00000239231.6	-	1	325	c.9C>T	c.(7-9)atC>atT	p.I3I		NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	3					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		TGGCATCTTTGATCTTCATGG	0.706																																						ENST00000239231.6																			0				NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(7-9)atC>atT		pantothenate kinase 3							20.0	21.0	21.0					5																	168006280		2202	4299	6501	SO:0001819	synonymous_variant	79646				coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity	g.chr5:168006280G>A	AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.9C>T	5.37:g.168006280G>A							p.I3I	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)	1	325	-	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	3					D3DQL1|Q53FJ9|Q7RTX4	Silent	SNP	ENST00000239231.6	37	c.9C>T	CCDS4368.1																																																																																				0.706	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2	NM_024594		6	9	0	0	0	0.001984	0	6	9				
OR5M1	390168	broad.mit.edu	37	11	56380788	56380788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:56380788C>T	ENST00000526538.1	-	1	190	c.191G>A	c.(190-192)gGc>gAc	p.G64D		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GGAGAGGTGGCCAAGGAAGAA	0.468																																						ENST00000526538.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						c.(190-192)gGc>gAc		olfactory receptor, family 5, subfamily M, member 1							184.0	179.0	181.0					11																	56380788		1968	4163	6131	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380788C>T	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.191G>A	11.37:g.56380788C>T	ENSP00000435416:p.Gly64Asp						p.G64D	NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN			1	190	-			64					Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.191G>A	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	C	9.894	1.205158	0.22205	.	.	ENSG00000255012	ENST00000526538	T	0.01981	4.52	3.71	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.343499	0.20673	N	0.087789	T	0.03263	0.0095	M	0.65975	2.015	0.09310	N	1	B	0.30584	0.286	B	0.26094	0.066	T	0.27839	-1.0062	10	0.87932	D	0	-26.3939	8.4336	0.32773	0.168:0.6679:0.1641:0.0	.	64	Q8NGP8	OR5M1_HUMAN	D	64	ENSP00000435416:G64D	ENSP00000435416:G64D	G	-	2	0	OR5M1	56137364	0.000000	0.05858	0.931000	0.37212	0.782000	0.44232	-0.225000	0.09151	1.949000	0.56562	0.280000	0.19369	GGC		0.468	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		44	80	0	0	0	0.002852	0	44	80				
PCDHGB3	56102	broad.mit.edu	37	5	140751081	140751081	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:140751081C>A	ENST00000576222.1	+	1	1251	c.1120C>A	c.(1120-1122)Cta>Ata	p.L374I	PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	374	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACACATGATCTAGATTCTGG	0.423																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1120-1122)Cta>Ata									45.0	45.0	45.0					5																	140751081		1918	4124	6042	SO:0001583	missense	56102							g.chr5:140751081C>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1120C>A	5.37:g.140751081C>A	ENSP00000461862:p.Leu374Ile					PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.L374I	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1251	+								A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1120C>A	CCDS58980.1																																																																																				0.423	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		7	24	1	0	0.00198382	0.001984	0.00236975	7	24				
PKHD1L1	93035	broad.mit.edu	37	8	110476802	110476802	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:110476802C>A	ENST00000378402.5	+	49	7845	c.7741C>A	c.(7741-7743)Cac>Aac	p.H2581N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2581					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGTGGCACTCACTTTGGCTT	0.463										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(7741-7743)Cac>Aac		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							101.0	101.0	101.0					8																	110476802		2032	4198	6230	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110476802C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7741C>A	8.37:g.110476802C>A	ENSP00000367655:p.His2581Asn	HNSCC(38;0.096)					p.H2581N	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	7845	+			2581					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.7741C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040371	0.75732	.	.	ENSG00000205038	ENST00000378402	T	0.78364	-1.17	5.55	5.55	0.83447	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	D	0.86406	0.5925	M	0.70595	2.14	0.44685	D	0.997678	D	0.54964	0.969	P	0.62491	0.903	D	0.87313	0.2313	10	0.66056	D	0.02	.	16.9905	0.86352	0.0:1.0:0.0:0.0	.	2581	Q86WI1	PKHL1_HUMAN	N	2581	ENSP00000367655:H2581N	ENSP00000367655:H2581N	H	+	1	0	PKHD1L1	110545978	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	6.471000	0.73562	2.610000	0.88304	0.655000	0.94253	CAC		0.463	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		24	35	1	0	2.21704e-12	0.002780	3.0311e-12	24	35				
ATG4D	84971	broad.mit.edu	37	19	10665770	10665770	+	IGR	SNP	G	G	C	rs200311568	byFrequency	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:10665770G>C	ENST00000309469.4	+	0	1949				MIR1238_ENST00000408483.1_RNA|KRI1_ENST00000361821.5_Missense_Mutation_p.R594G|KRI1_ENST00000312962.6_Missense_Mutation_p.R598G	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase						apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			tactcttctCGGCAGAGTGAC	0.592													G|||	3	0.000599042	0.0023	0.0	5008	,	,		13657	0.0		0.0	False		,,,				2504	0.0					ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(1792-1794)Cga>Gga		KRI1 homolog (S. cerevisiae)		G	GLY/ARG	0,4406		0,0,2203	59.0	57.0	57.0		1792	-3.1	0.0	19		57	1,8599		0,1,4299	no	missense	KRI1	NM_023008.3	125	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign	598/710	10665770	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	65095							g.chr19:10665770G>C	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582		19.37:g.10665770G>C						KRI1_ENST00000361821.5_Missense_Mutation_p.R594G	p.R598G	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		18	1811	-			598					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.1792C>G	CCDS12241.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	8.424	0.847012	0.17034	0.0	1.16E-4	ENSG00000129347	ENST00000312962;ENST00000361821	T;T	0.08193	3.28;3.12	4.82	-3.08	0.05347	.	1.332470	0.04701	N	0.415790	T	0.02267	0.0070	N	0.08118	0	0.09310	N	0.999994	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.41305	-0.9516	10	0.20519	T	0.43	2.9056	1.4337	0.02339	0.3475:0.1353:0.3789:0.1383	.	598;594	Q8N9T8;D3YTE0	KRI1_HUMAN;.	G	598;594	ENSP00000320917:R598G;ENSP00000355366:R594G	ENSP00000320917:R598G	R	-	1	2	KRI1	10526770	0.012000	0.17670	0.040000	0.18447	0.385000	0.30292	-0.129000	0.10515	-0.347000	0.08299	0.563000	0.77884	CGA		0.592	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		25	39	0	0	0	0.003330	0	25	39				
TIAM1	7074	broad.mit.edu	37	21	32554912	32554912	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr21:32554912C>T	ENST00000286827.3	-	16	3184	c.2713G>A	c.(2713-2715)Gcc>Acc	p.A905T	TIAM1_ENST00000541036.1_Missense_Mutation_p.A845T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	905	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GAGTTCAGGGCGTCAGCAGCA	0.498																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(2713-2715)Gcc>Acc		T-cell lymphoma invasion and metastasis 1							79.0	73.0	75.0					21																	32554912		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32554912C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2713G>A	21.37:g.32554912C>T	ENSP00000286827:p.Ala905Thr					TIAM1_ENST00000541036.1_Missense_Mutation_p.A845T	p.A905T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			16	3184	-			905			PDZ.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.2713G>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	8.918	0.960407	0.18507	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.29142	1.58;1.58	4.42	2.04	0.26737	PDZ/DHR/GLGF (4);	0.434279	0.25219	N	0.032250	T	0.13286	0.0322	N	0.11560	0.145	0.20196	N	0.99992	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.19549	-1.0302	10	0.24483	T	0.36	.	5.9394	0.19184	0.0:0.3213:0.0:0.6786	.	845;845;905	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	T	905;746;845	ENSP00000286827:A905T;ENSP00000441570:A845T	ENSP00000286827:A905T	A	-	1	0	TIAM1	31476783	0.727000	0.28069	0.922000	0.36590	0.814000	0.46013	0.875000	0.28079	0.758000	0.33059	-0.378000	0.06908	GCC		0.498	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		5	63	0	0	0	0.000602	0	5	63				
KCNJ3	3760	broad.mit.edu	37	2	155711512	155711512	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:155711512A>G	ENST00000295101.2	+	3	1670	c.1193A>G	c.(1192-1194)aAa>aGa	p.K398R	KCNJ3_ENST00000544049.1_3'UTR|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	398					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ATTACTACAAAACTACCATCT	0.388																																						ENST00000295101.2																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54						c.(1192-1194)aAa>aGa		potassium inwardly-rectifying channel, subfamily J, member 3	Halothane(DB01159)						101.0	109.0	106.0					2																	155711512		2203	4300	6503	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711512A>G	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1193A>G	2.37:g.155711512A>G	ENSP00000295101:p.Lys398Arg					KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	p.K398R	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN			3	1670	+			398					B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.1193A>G	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	A	10.20	1.284451	0.23392	.	.	ENSG00000162989	ENST00000295101	D	0.88509	-2.39	5.86	5.86	0.93980	.	0.199490	0.51477	D	0.000093	T	0.76786	0.4036	N	0.12746	0.255	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.70967	-0.4728	10	0.08837	T	0.75	.	11.3283	0.49460	0.9275:0.0:0.0725:0.0	.	398	P48549	IRK3_HUMAN	R	398	ENSP00000295101:K398R	ENSP00000295101:K398R	K	+	2	0	KCNJ3	155419758	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.306000	0.78905	2.244000	0.73946	0.528000	0.53228	AAA		0.388	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		64	98	0	0	0	0.003610	0	64	98				
PLEKHG3	26030	broad.mit.edu	37	14	65194605	65194605	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr14:65194605C>T	ENST00000394691.1	+	2	403	c.256C>T	c.(256-258)Cct>Tct	p.P86S	PLEKHG3_ENST00000247226.7_Missense_Mutation_p.P86S			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	86							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGCGGCAGGGCCTGCACACCA	0.637																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(256-258)Cct>Tct		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							38.0	38.0	38.0					14																	65194605		2202	4300	6502	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65194605C>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.256C>T	14.37:g.65194605C>T	ENSP00000378183:p.Pro86Ser					PLEKHG3_ENST00000394691.1_Missense_Mutation_p.P86S	p.P86S	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	2	564	+			86					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.256C>T		.	.	.	.	.	.	.	.	.	.	C	0.522	-0.861575	0.02610	.	.	ENSG00000126822	ENST00000555982;ENST00000247226;ENST00000394691;ENST00000554499	T;T;T;T	0.66460	1.58;-0.21;-0.21;0.84	4.75	-2.44	0.06502	Dbl homology (DH) domain (1);	2.246340	0.01443	N	0.015160	T	0.55862	0.1947	L	0.46157	1.445	0.21105	N	0.999781	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.33574	-0.9863	10	0.46703	T	0.11	.	2.6075	0.04882	0.1214:0.4571:0.1196:0.3018	.	86;86	A1L390;A1L390-3	PKHG3_HUMAN;.	S	86	ENSP00000450501:P86S;ENSP00000247226:P86S;ENSP00000378183:P86S;ENSP00000451256:P86S	ENSP00000247226:P86S	P	+	1	0	PLEKHG3	64264358	0.028000	0.19301	0.001000	0.08648	0.001000	0.01503	0.052000	0.14163	-0.150000	0.11195	-1.166000	0.01754	CCT		0.637	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		8	4	0	0	0	0.003080	0	8	4				
PDZRN3	23024	broad.mit.edu	37	3	73432909	73432909	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:73432909C>A	ENST00000263666.4	-	10	2922	c.2808G>T	c.(2806-2808)agG>agT	p.R936S	PDZRN3_ENST00000466780.1_Missense_Mutation_p.R593S|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R593S|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R653S|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R658S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	936					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCCGCACGGGCCTCTTGGTGA	0.667																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2806-2808)agG>agT		PDZ domain containing ring finger 3							32.0	34.0	33.0					3																	73432909		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73432909C>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2808G>T	3.37:g.73432909C>A	ENSP00000263666:p.Arg936Ser					PDZRN3_ENST00000535920.1_Missense_Mutation_p.R658S|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R653S|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R593S|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R593S	p.R936S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2922	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	936					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2808G>T	CCDS33789.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.27|18.27|18.27	3.586073|3.586073|3.586073	0.66105|0.66105|0.66105	.|.|.	.|.|.	ENSG00000121440|ENSG00000121440|ENSG00000121440	ENST00000416926|ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	.|.|T;T;T;T;T	.|.|0.53206	.|.|0.63;0.63;0.63;0.63;0.63	5.4|5.4|5.4	4.52|4.52|4.52	0.55395|0.55395|0.55395	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.67785|0.67785|0.67785	0.2930|0.2930|0.2930	M|M|M	0.82716|0.82716|0.82716	2.605|2.605|2.605	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D;D	.|.|0.89917	.|.|1.0;1.0;1.0;0.997	.|.|D;D;D;D	.|.|0.91635	.|.|0.999;0.996;0.999;0.989	T|T|T	0.70967|0.70967|0.70967	-0.4728|-0.4728|-0.4728	5|5|10	.|.|0.87932	.|.|D	.|.|0	.|.|.	8.884|8.884|8.884	0.35392|0.35392|0.35392	0.0:0.6372:0.2868:0.076|0.0:0.6372:0.2868:0.076|0.0:0.6372:0.2868:0.076	.|.|.	.|.|658;653;653;936	.|.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.|.;.;.;PZRN3_HUMAN	S|V|S	656|252|936;658;593;593;653	.|.|ENSP00000263666:R936S;ENSP00000442026:R658S;ENSP00000418168:R593S;ENSP00000418484:R593S;ENSP00000418624:R653S	.|.|ENSP00000263666:R936S	A|G|R	-|-|-	1|2|3	0|0|2	PDZRN3|PDZRN3|PDZRN3	73515599|73515599|73515599	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.994000|0.994000|0.994000	0.49952|0.49952|0.49952	0.956000|0.956000|0.956000	0.61745|0.61745|0.61745	1.084000|1.084000|1.084000	0.30828|0.30828|0.30828	1.256000|1.256000|1.256000	0.44068|0.44068|0.44068	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCC|GGC|AGG		0.667	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		19	13	1	0	3.99206e-14	0.007413	5.56661e-14	19	13				
ARHGAP30	257106	broad.mit.edu	37	1	161022564	161022564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:161022564G>A	ENST00000368013.3	-	7	1008	c.688C>T	c.(688-690)Cga>Tga	p.R230*	ARHGAP30_ENST00000368015.1_Nonsense_Mutation_p.R53*|ARHGAP30_ENST00000368016.3_Nonsense_Mutation_p.R230*	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	230					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGAAGCGATCGCCACCCACTC	0.607																																						ENST00000368013.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(688-690)Cga>Tga		Rho GTPase activating protein 30							45.0	48.0	47.0					1																	161022564		2203	4300	6503	SO:0001587	stop_gained	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161022564G>A	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.688C>T	1.37:g.161022564G>A	ENSP00000356992:p.Arg230*					ARHGAP30_ENST00000368015.1_Nonsense_Mutation_p.R53*|ARHGAP30_ENST00000368016.3_Nonsense_Mutation_p.R230*	p.R230*	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		7	1008	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		230					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Nonsense_Mutation	SNP	ENST00000368013.3	37	c.688C>T	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	G	37	6.435718	0.97564	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017;ENST00000368015	.	.	.	4.2	2.16	0.27623	.	0.444110	0.19349	N	0.116455	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	8.8036	0.34923	0.0:0.0:0.5618:0.4382	.	.	.	.	X	230;230;82;53	.	ENSP00000356992:R230X	R	-	1	2	ARHGAP30	159289188	0.361000	0.24972	0.963000	0.40424	0.928000	0.56348	0.882000	0.28186	0.319000	0.23209	0.549000	0.68633	CGA		0.607	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		27	39	0	0	0	0.006320	0	27	39				
STK10	6793	broad.mit.edu	37	5	171488156	171488156	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:171488156C>A	ENST00000176763.5	-	14	2542	c.2199G>T	c.(2197-2199)caG>caT	p.Q733H		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	733					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAAGGAGCTCCTGCTTCTTCA	0.617																																						ENST00000176763.5																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(2197-2199)caG>caT		serine/threonine kinase 10							165.0	145.0	152.0					5																	171488156		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171488156C>A	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2199G>T	5.37:g.171488156C>A	ENSP00000176763:p.Gln733His						p.Q733H	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		14	2542	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	733					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.2199G>T	CCDS34290.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.33|10.33	1.321700|1.321700	0.23994|0.23994	.|.	.|.	ENSG00000072786|ENSG00000072786	ENST00000176763;ENST00000545839|ENST00000520476	T|.	0.70164|.	-0.46|.	5.12|5.12	4.05|4.05	0.47172|0.47172	.|.	0.127933|.	0.56097|.	D|.	0.000038|.	T|T	0.51618|0.51618	0.1685|0.1685	L|L	0.28776|0.28776	0.89|0.89	0.46823|0.46823	D|D	0.999219|0.999219	B|.	0.15473|.	0.013|.	B|.	0.20577|.	0.03|.	T|T	0.44436|0.44436	-0.9328|-0.9328	10|5	0.44086|.	T|.	0.13|.	.|.	11.7784|11.7784	0.51999|0.51999	0.0:0.8981:0.0:0.1019|0.0:0.8981:0.0:0.1019	.|.	733|.	O94804|.	STK10_HUMAN|.	H|M	733|6	ENSP00000176763:Q733H|.	ENSP00000176763:Q733H|.	Q|R	-|-	3|2	2|0	STK10|STK10	171420761|171420761	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.702000|0.702000	0.40608|0.40608	0.495000|0.495000	0.22483|0.22483	2.368000|2.368000	0.80403|0.80403	0.555000|0.555000	0.69702|0.69702	CAG|AGG		0.617	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		71	140	1	0	9.12251e-31	0.003610	1.46462e-30	71	140				
ERV3-1	2086	broad.mit.edu	37	7	64452342	64452342	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:64452342C>A	ENST00000394323.2	-	2	1563	c.1063G>T	c.(1063-1065)Gac>Tac	p.D355Y	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	355						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						cctactgggtctgtaaaggcc	0.433																																						ENST00000394323.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						c.(1063-1065)Gac>Tac									87.0	81.0	83.0					7																	64452342		1872	4099	5971	SO:0001583	missense	2086					virion		g.chr7:64452342C>A	AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"""endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)"", ""endogenous retroviral sequence 3"""	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.1063G>T	7.37:g.64452342C>A	ENSP00000391594:p.Asp355Tyr						p.D355Y	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN			2	1563	-			355						Missense_Mutation	SNP	ENST00000394323.2	37	c.1063G>T	CCDS47595.1	.	.	.	.	.	.	.	.	.	.	.	15.19	2.760030	0.49468	.	.	ENSG00000213462	ENST00000394323	T	0.12465	2.68	0.109	0.109	0.14578	.	.	.	.	.	T	0.08358	0.0208	N	0.08118	0	0.22996	N	0.998451	D	0.58268	0.982	P	0.47786	0.557	T	0.28202	-1.0051	8	0.52906	T	0.07	.	.	.	.	.	355	Q14264	ENR1_HUMAN	Y	355	ENSP00000391594:D355Y	ENSP00000391594:D355Y	D	-	1	0	ERV3-1	64089777	0.963000	0.33076	0.890000	0.34922	0.891000	0.51852	0.195000	0.17155	0.181000	0.19994	0.184000	0.17185	GAC		0.433	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381468.1	NM_001007253		13	31	1	0	3.03607e-14	0.001368	4.28478e-14	13	31				
CEP72	55722	broad.mit.edu	37	5	637653	637653	+	Missense_Mutation	SNP	C	C	T	rs143077618		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:637653C>T	ENST00000264935.5	+	7	1016	c.926C>T	c.(925-927)tCg>tTg	p.S309L	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	309					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			ACCGAGGACTCGGCCTCTTCT	0.527																																						ENST00000264935.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(925-927)tCg>tTg		centrosomal protein 72kDa		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	65.0	68.0	67.0		926	-0.3	0.0	5	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEP72	NM_018140.3	145	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	309/648	637653	2,13004	2203	4300	6503	SO:0001583	missense	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:637653C>T	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.926C>T	5.37:g.637653C>T	ENSP00000264935:p.Ser309Leu					CEP72_ENST00000444221.1_3'UTR	p.S309L	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		7	1016	+			309					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	c.926C>T	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437677	0.43224	2.27E-4	1.16E-4	ENSG00000112877	ENST00000264935	T	0.09911	2.93	4.76	-0.313	0.12754	.	1.455160	0.03929	N	0.284931	T	0.11965	0.0291	L	0.54323	1.7	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.35895	-0.9770	10	0.49607	T	0.09	-0.0644	4.632	0.12506	0.0:0.4549:0.1633:0.3818	.	309	Q9P209	CEP72_HUMAN	L	309	ENSP00000264935:S309L	ENSP00000264935:S309L	S	+	2	0	CEP72	690653	0.000000	0.05858	0.000000	0.03702	0.582000	0.36321	0.365000	0.20348	-0.193000	0.10415	0.561000	0.74099	TCG		0.527	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		28	50	0	0	0	0.007291	0	28	50				
ATP2C1	27032	broad.mit.edu	37	3	130698095	130698095	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:130698095C>T	ENST00000510168.1	+	19	2123	c.1573C>T	c.(1573-1575)Ctt>Ttt	p.L525F	ATP2C1_ENST00000393221.4_Missense_Mutation_p.L559F|ATP2C1_ENST00000513801.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000504381.1_Missense_Mutation_p.L470F|ATP2C1_ENST00000428331.2_Missense_Mutation_p.L525F|ATP2C1_ENST00000505330.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000508532.1_Missense_Mutation_p.L525F|ATP2C1_ENST00000328560.8_Missense_Mutation_p.L525F|ATP2C1_ENST00000533801.2_Missense_Mutation_p.L520F|ATP2C1_ENST00000359644.3_Missense_Mutation_p.L525F|ATP2C1_ENST00000504948.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000507488.2_Missense_Mutation_p.L509F|ATP2C1_ENST00000422190.2_Missense_Mutation_p.L525F			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	525					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTCCTAAGTTCTTGCTTTGGC	0.373									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.(1573-1575)Ctt>Ttt		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						106.0	105.0	105.0					3																	130698095		2203	4300	6503	SO:0001583	missense	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130698095C>T	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1573C>T	3.37:g.130698095C>T	ENSP00000427461:p.Leu525Phe					ATP2C1_ENST00000508532.1_Missense_Mutation_p.L525F|ATP2C1_ENST00000504948.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000533801.2_Missense_Mutation_p.L520F|ATP2C1_ENST00000504381.1_Missense_Mutation_p.L470F|ATP2C1_ENST00000428331.2_Missense_Mutation_p.L525F|ATP2C1_ENST00000513801.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000422190.2_Missense_Mutation_p.L525F|ATP2C1_ENST00000393221.4_Missense_Mutation_p.L559F|ATP2C1_ENST00000359644.3_Missense_Mutation_p.L525F|ATP2C1_ENST00000328560.8_Missense_Mutation_p.L525F|ATP2C1_ENST00000505330.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000507488.2_Missense_Mutation_p.L509F	p.L525F			P98194	AT2C1_HUMAN			19	2123	+			525					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.1573C>T	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698731	0.88830	.	.	ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97209	-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29	5.89	5.89	0.94794	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.134244	0.52532	D	0.000071	D	0.98899	0.9627	H	0.95950	3.745	0.80722	D	1	D;D;P;D;P;D;D	0.65815	0.995;0.988;0.75;0.99;0.848;0.983;0.986	D;D;P;D;P;P;D	0.68192	0.927;0.931;0.732;0.927;0.732;0.844;0.956	D	0.99312	1.0904	10	0.72032	D	0.01	.	15.0262	0.71671	0.1422:0.8578:0.0:0.0	.	559;520;559;525;559;525;525	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.;.;.;.;.;.;AT2C1_HUMAN	F	509;470;509;559;520;525;525;509;509;525;525;525;525;524	ENSP00000423774:L509F;ENSP00000425320:L470F;ENSP00000421326:L509F;ENSP00000376914:L559F;ENSP00000432956:L520F;ENSP00000427461:L525F;ENSP00000424783:L525F;ENSP00000423330:L509F;ENSP00000422872:L509F;ENSP00000329664:L525F;ENSP00000395809:L525F;ENSP00000352665:L525F;ENSP00000402677:L525F	ENSP00000329664:L525F	L	+	1	0	ATP2C1	132180785	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.849000	0.55910	2.783000	0.95769	0.655000	0.94253	CTT		0.373	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		8	164	0	0	0	0.003080	0	8	164				
MYH4	4622	broad.mit.edu	37	17	10351339	10351339	+	Silent	SNP	G	G	A	rs377587438		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:10351339G>A	ENST00000255381.2	-	34	4871	c.4761C>T	c.(4759-4761)ctC>ctT	p.L1587L	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1587					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTAGCTGATCGAGTTCTTCAT	0.418																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(4759-4761)ctC>ctT		myosin, heavy chain 4, skeletal muscle		G		1,4405	2.1+/-5.4	0,1,2202	222.0	196.0	205.0		4761	-11.0	0.1	17		205	0,8600		0,0,4300	no	coding-synonymous	MYH4	NM_017533.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1587/1940	10351339	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10351339G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4761C>T	17.37:g.10351339G>A						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.L1587L	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			34	4871	-			1587						Silent	SNP	ENST00000255381.2	37	c.4761C>T	CCDS11154.1																																																																																				0.418	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		6	155	0	0	0	0.003080	0	6	155				
ZNF716	441234	broad.mit.edu	37	7	57529071	57529071	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:57529071G>T	ENST00000420713.1	+	4	1016	c.904G>T	c.(904-906)Ggc>Tgc	p.G302C		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						TGAAGAATGTGGCAAAGCCTT	0.418																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(904-906)Ggc>Tgc		zinc finger protein 716							37.0	37.0	37.0					7																	57529071		692	1591	2283	SO:0001583	missense	441234							g.chr7:57529071G>T	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.904G>T	7.37:g.57529071G>T	ENSP00000394248:p.Gly302Cys						p.G302C	NM_001159279.1	NP_001152751.1					4	1016	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.904G>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276362	0.40294	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.01516	4.81	0.109	0.109	0.14578	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10252	0.0251	M	0.92317	3.295	0.36259	D	0.854405	D	0.89917	1.0	D	0.71184	0.972	T	0.05241	-1.0897	9	0.87932	D	0	.	5.9913	0.19465	6.0E-4:0.0:0.9994:0.0	.	290	A6NP11	ZN716_HUMAN	C	302;290	ENSP00000394248:G302C	ENSP00000387687:G290C	G	+	1	0	ZNF716	57533013	1.000000	0.71417	0.163000	0.22734	0.164000	0.22412	3.850000	0.55918	0.181000	0.19994	0.184000	0.17185	GGC		0.418	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		8	16	1	0	0.00307968	0.003080	0.00365386	8	16				
DMD	1756	broad.mit.edu	37	X	32328320	32328320	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:32328320G>A	ENST00000357033.4	-	42	6202	c.5996C>T	c.(5995-5997)aCt>aTt	p.T1999I	DMD_ENST00000378677.2_Missense_Mutation_p.T1995I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1999					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGTCAAATAAGTAGAAGGCAC	0.393																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(5995-5997)aCt>aTt		dystrophin							112.0	92.0	99.0					X																	32328320		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32328320G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5996C>T	X.37:g.32328320G>A	ENSP00000354923:p.Thr1999Ile					DMD_ENST00000378677.2_Missense_Mutation_p.T1995I	p.T1999I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			42	6202	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1999					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.5996C>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930724	0.52866	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.61158	0.13;0.13	6.16	6.16	0.99307	.	0.000000	0.38058	U	0.001831	T	0.57272	0.2042	L	0.47716	1.5	0.80722	D	1	B;P;B;B;B	0.48589	0.235;0.912;0.278;0.049;0.049	B;P;B;B;B	0.44394	0.175;0.448;0.268;0.113;0.113	T	0.56189	-0.8020	10	0.39692	T	0.17	.	17.89	0.88869	0.0:0.0:1.0:0.0	.	1991;1999;1995;658;655	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	I	1991;658;655;1995;1999;1999;1876	ENSP00000367948:T1995I;ENSP00000354923:T1999I	ENSP00000354923:T1999I	T	-	2	0	DMD	32238241	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.088000	0.76901	2.614000	0.88457	0.594000	0.82650	ACT		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		21	7	0	0	0	0.001523	0	21	7				
OR4C46	119749	broad.mit.edu	37	11	51515722	51515722	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:51515722G>T	ENST00000328188.1	+	1	441	c.441G>T	c.(439-441)tgG>tgT	p.W147C		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GAGTGGTGTGGATGGGAGGCT	0.463																																						ENST00000328188.1																			0				endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.(439-441)tgG>tgT		olfactory receptor, family 4, subfamily C, member 46							174.0	164.0	168.0					11																	51515722		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515722G>T		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.441G>T	11.37:g.51515722G>T	ENSP00000329056:p.Trp147Cys						p.W147C	NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN			1	441	+			147						Missense_Mutation	SNP	ENST00000328188.1	37	c.441G>T	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	1.311	-0.602128	0.03744	.	.	ENSG00000185926	ENST00000328188	T	0.59638	0.25	2.48	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000641	T	0.57125	0.2032	M	0.76433	2.335	0.18873	N	0.999989	B	0.32031	0.352	B	0.38954	0.286	T	0.54977	-0.8212	10	0.62326	D	0.03	.	7.0289	0.24956	0.1505:0.0:0.8495:0.0	.	147	A6NHA9	O4C46_HUMAN	C	147	ENSP00000329056:W147C	ENSP00000329056:W147C	W	+	3	0	OR4C46	51372298	0.753000	0.28349	0.002000	0.10522	0.003000	0.03518	1.126000	0.31344	0.408000	0.25621	0.134000	0.15878	TGG		0.463	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		75	119	1	0	1.15098e-32	0.003610	1.87368e-32	75	119				
PRELP	5549	broad.mit.edu	37	1	203452824	203452824	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:203452824G>A	ENST00000343110.2	+	2	639	c.512G>A	c.(511-513)cGg>cAg	p.R171Q		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	171					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GCCCTGCCCCGGAACCTGGAG	0.597																																						ENST00000343110.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(511-513)cGg>cAg		proline/arginine-rich end leucine-rich repeat protein							68.0	74.0	72.0					1																	203452824		2203	4300	6503	SO:0001583	missense	5549				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr1:203452824G>A	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.512G>A	1.37:g.203452824G>A	ENSP00000343924:p.Arg171Gln						p.R171Q	NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	639	+			171					Q6FG38	Missense_Mutation	SNP	ENST00000343110.2	37	c.512G>A	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456738	0.43634	.	.	ENSG00000188783	ENST00000343110	T	0.58358	0.34	4.59	-3.04	0.05412	.	0.412872	0.22755	N	0.056021	T	0.30759	0.0775	N	0.25890	0.77	0.25005	N	0.991442	B	0.13594	0.008	B	0.13407	0.009	T	0.08638	-1.0712	10	0.37606	T	0.19	-12.1321	6.3515	0.21379	0.3738:0.3942:0.232:0.0	.	171	P51888	PRELP_HUMAN	Q	171	ENSP00000343924:R171Q	ENSP00000343924:R171Q	R	+	2	0	PRELP	201719447	0.000000	0.05858	0.813000	0.32504	0.931000	0.56810	0.318000	0.19504	-0.579000	0.05952	-0.369000	0.07265	CGG		0.597	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		5	149	0	0	0	0.001984	0	5	149				
THEMIS	387357	broad.mit.edu	37	6	128222065	128222065	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:128222065G>T	ENST00000368248.2	-	1	161	c.13C>A	c.(13-15)Ctg>Atg	p.L5M	THEMIS_ENST00000368250.1_De_novo_Start_InFrame|THEMIS_ENST00000543064.1_Missense_Mutation_p.L5M|THEMIS_ENST00000537166.1_Intron	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	5	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AATTCTTCCAGTGATAATGCC	0.498																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60								thymocyte selection associated							245.0	239.0	241.0					6																	128222065		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128222065G>T	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.13C>A	6.37:g.128222065G>T	ENSP00000357231:p.Leu5Met					THEMIS_ENST00000543064.1_Missense_Mutation_p.L5M|THEMIS_ENST00000537166.1_Intron|THEMIS_ENST00000368248.2_Missense_Mutation_p.L5M				Q8N1K5	THMS1_HUMAN			0	274	-								A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Translation_Start_Site	SNP	ENST00000368248.2	37		CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.534445	0.45073	.	.	ENSG00000172673	ENST00000543064;ENST00000368248	T;T	0.31510	1.57;1.49	5.55	3.76	0.43208	.	0.205916	0.31760	N	0.007104	T	0.40767	0.1130	M	0.75777	2.31	0.80722	D	1	D;D	0.71674	0.992;0.998	P;D	0.83275	0.9;0.996	T	0.41520	-0.9504	10	0.87932	D	0	-0.9309	8.5567	0.33485	0.1795:0.0:0.8205:0.0	.	5;5	F5H1J9;Q8N1K5	.;THMS1_HUMAN	M	5	ENSP00000439594:L5M;ENSP00000357231:L5M	ENSP00000357231:L5M	L	-	1	2	THEMIS	128263758	0.854000	0.29725	0.643000	0.29450	0.492000	0.33523	1.055000	0.30467	0.700000	0.31782	0.591000	0.81541	CTG		0.498	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		51	69	1	0	9.57592e-29	0.003610	1.52344e-28	51	69				
PCDHGB7	56099	broad.mit.edu	37	5	140797510	140797510	+	Silent	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:140797510G>T	ENST00000398594.2	+	1	84	c.84G>T	c.(82-84)acG>acT	p.T28T	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	28					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTACCCCACGCTGTGTGAGC	0.632											OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(82-84)acG>acT									41.0	43.0	43.0					5																	140797510		1924	4125	6049	SO:0001819	synonymous_variant	56099							g.chr5:140797510G>T	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.84G>T	5.37:g.140797510G>T			OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron	p.T28T	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	84	+								Q9UN63	Silent	SNP	ENST00000398594.2	37	c.84G>T	CCDS47293.1																																																																																				0.632	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		13	23	1	0	5.50884e-06	0.001368	6.78906e-06	13	23				
BAAT	570	broad.mit.edu	37	9	104133542	104133542	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:104133542G>A	ENST00000395051.3	-	1	215	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	BAAT_ENST00000259407.2_Missense_Mutation_p.H49Y			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	49					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GCCCTATAGTGGGCTTGAGAA	0.488																																						ENST00000259407.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.(145-147)Cac>Tac		bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	Glycine(DB00145)						109.0	103.0	105.0					9																	104133542		2203	4300	6503	SO:0001583	missense	570				acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity	g.chr9:104133542G>A	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.145C>T	9.37:g.104133542G>A	ENSP00000378491:p.His49Tyr					BAAT_ENST00000395051.3_Missense_Mutation_p.H49Y	p.H49Y	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN			2	253	-		Acute lymphoblastic leukemia(62;0.0559)	49					Q3B7W9|Q96L31	Missense_Mutation	SNP	ENST00000395051.3	37	c.145C>T	CCDS6752.1	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.299561	0.01364	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.70516	-0.49;-0.49	4.41	-1.08	0.09936	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	1.489440	0.03997	N	0.295773	T	0.47021	0.1423	N	0.20483	0.58	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23190	-1.0195	10	0.07175	T	0.84	-2.7005	1.1186	0.01720	0.5111:0.1535:0.1866:0.1488	.	49	Q14032	BAAT_HUMAN	Y	49	ENSP00000259407:H49Y;ENSP00000378491:H49Y	ENSP00000259407:H49Y	H	-	1	0	BAAT	103173363	0.000000	0.05858	0.099000	0.21106	0.978000	0.69477	-0.033000	0.12246	-0.037000	0.13646	-0.302000	0.09304	CAC		0.488	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1			33	68	0	0	0	0.002096	0	33	68				
ANO5	203859	broad.mit.edu	37	11	22301128	22301128	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:22301128G>T	ENST00000324559.8	+	22	2876	c.2559G>T	c.(2557-2559)atG>atT	p.M853I		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	853					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGCCTGGATGATACCTGATG	0.358																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2557-2559)atG>atT		anoctamin 5							111.0	110.0	110.0					11																	22301128		2203	4299	6502	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22301128G>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2559G>T	11.37:g.22301128G>T	ENSP00000315371:p.Met853Ile						p.M853I	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			22	2876	+			853						Missense_Mutation	SNP	ENST00000324559.8	37	c.2559G>T	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440475	0.43326	.	.	ENSG00000171714	ENST00000324559	T	0.61510	0.1	5.98	5.98	0.97165	.	0.196329	0.64402	D	0.000005	T	0.54224	0.1845	L	0.33624	1.015	0.39317	D	0.965171	B	0.33528	0.416	B	0.43508	0.422	T	0.48779	-0.9005	10	0.18710	T	0.47	.	15.1928	0.73060	0.0:0.0:0.8591:0.1408	.	853	Q75V66	ANO5_HUMAN	I	853	ENSP00000315371:M853I	ENSP00000315371:M853I	M	+	3	0	ANO5	22257704	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.008000	0.63991	2.838000	0.97847	0.655000	0.94253	ATG		0.358	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		17	37	1	0	0.00074312	0.006122	0.000890726	17	37				
DUSP12	11266	broad.mit.edu	37	1	161719654	161719654	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:161719654C>T	ENST00000367943.4	+	1	95	c.63C>T	c.(61-63)gtC>gtT	p.V21V		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	21					cellular protein modification process (GO:0006464)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of glucokinase activity (GO:0033133)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CCAGCAGAGTCAGCTGTGCCG	0.672																																						ENST00000367943.4																			0				breast(1)|endometrium(2)|kidney(1)|lung(1)	5						c.(61-63)gtC>gtT		dual specificity phosphatase 12							16.0	19.0	18.0					1																	161719654		2199	4296	6495	SO:0001819	synonymous_variant	11266				positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding	g.chr1:161719654C>T	AF119226	CCDS1234.1	1q21-q22	2011-06-09			ENSG00000081721	ENSG00000081721		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3067	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog"""	604835				10446167	Standard	XM_005244862		Approved	YVH1, DUSP1	uc001gbo.3	Q9UNI6	OTTHUMG00000034540	ENST00000367943.4:c.63C>T	1.37:g.161719654C>T						DUSP12_ENST00000484291.1_3'UTR	p.V21V	NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		1	95	+	all_hematologic(112;0.0359)		21					Q5VXA8	Silent	SNP	ENST00000367943.4	37	c.63C>T	CCDS1234.1																																																																																				0.672	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083588.1	NM_007240		4	16	0	0	0	0.000248	0	4	16				
CACNA1E	777	broad.mit.edu	37	1	181680164	181680164	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:181680164A>G	ENST00000367573.2	+	8	1130	c.1130A>G	c.(1129-1131)gAg>gGg	p.E377G	CACNA1E_ENST00000358338.5_Missense_Mutation_p.E328G|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E328G|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E377G|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E377G|CACNA1E_ENST00000526775.1_Missense_Mutation_p.E377G	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	377	Binding to the beta subunit. {ECO:0000250}.				calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGCAGATTGAGCGTGAGCTG	0.577																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(1129-1131)gAg>gGg		calcium channel, voltage-dependent, R type, alpha 1E subunit							68.0	74.0	72.0					1																	181680164		1983	4158	6141	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181680164A>G	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1130A>G	1.37:g.181680164A>G	ENSP00000356545:p.Glu377Gly					CACNA1E_ENST00000357570.5_Missense_Mutation_p.E328G|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E328G|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E377G|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E377G|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E377G	p.E377G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			8	1295	+			377			Binding to the beta subunit (By similarity).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.1130A>G	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535069	0.85812	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.95554	-3.74;-3.74;-3.74;-3.74;-3.74;-3.74;-3.74	5.29	4.17	0.49024	.	0.175740	0.50627	N	0.000103	D	0.96178	0.8754	M	0.89414	3.03	0.80722	D	1	B;B	0.29301	0.241;0.241	B;B	0.39217	0.294;0.199	D	0.94839	0.8003	10	0.87932	D	0	.	10.7014	0.45928	0.9238:0.0:0.0762:0.0	.	377;377	Q15878-2;Q15878-3	.;.	G	377;377;377;328;328;377;377	ENSP00000432038:E377G;ENSP00000356542:E377G;ENSP00000434814:E377G;ENSP00000350183:E328G;ENSP00000351101:E328G;ENSP00000353222:E377G;ENSP00000356545:E377G	ENSP00000350183:E328G	E	+	2	0	CACNA1E	179946787	1.000000	0.71417	0.962000	0.40283	0.936000	0.57629	9.197000	0.94985	0.861000	0.35504	0.533000	0.62120	GAG		0.577	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		39	98	0	0	0	0.007835	0	39	98				
KIDINS220	57498	broad.mit.edu	37	2	8936972	8936972	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:8936972T>C	ENST00000256707.3	-	11	1208	c.1027A>G	c.(1027-1029)Acc>Gcc	p.T343A	KIDINS220_ENST00000473731.1_Missense_Mutation_p.T343A|KIDINS220_ENST00000427284.1_Missense_Mutation_p.T343A|KIDINS220_ENST00000418530.1_Missense_Mutation_p.T301A|KIDINS220_ENST00000319688.5_Missense_Mutation_p.T344A	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	343					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTCATCTTGGTAGCCTTTATA	0.418																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(1027-1029)Acc>Gcc		kinase D-interacting substrate, 220kDa							244.0	239.0	241.0					2																	8936972		1979	4167	6146	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8936972T>C	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1027A>G	2.37:g.8936972T>C	ENSP00000256707:p.Thr343Ala					KIDINS220_ENST00000473731.1_Missense_Mutation_p.T343A|KIDINS220_ENST00000319688.5_Missense_Mutation_p.T344A|KIDINS220_ENST00000427284.1_Missense_Mutation_p.T343A|KIDINS220_ENST00000418530.1_Missense_Mutation_p.T301A	p.T343A	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			11	1208	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		343					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.1027A>G	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.831958	0.50845	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.11	5.11	0.69529	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.40398	0.1115	N	0.00661	-1.28	0.54753	D	0.999987	D;D;P;D	0.76494	0.979;0.97;0.947;0.999	D;D;P;D	0.91635	0.982;0.919;0.907;0.999	T	0.57952	-0.7722	10	0.18276	T	0.48	.	15.1758	0.72910	0.0:0.0:0.0:1.0	.	344;344;301;343	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	A	90;27;343;343;301;343;344;344	ENSP00000420364:T90A;ENSP00000256707:T343A;ENSP00000411849:T343A;ENSP00000414923:T301A;ENSP00000418974:T343A;ENSP00000419964:T344A;ENSP00000319947:T344A	ENSP00000256707:T343A	T	-	1	0	KIDINS220	8854423	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	7.606000	0.82863	2.053000	0.61076	0.482000	0.46254	ACC		0.418	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		64	121	0	0	0	0.003610	0	64	121				
WNT8B	7479	broad.mit.edu	37	10	102241771	102241771	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:102241771G>A	ENST00000343737.5	+	5	598	c.470G>A	c.(469-471)cGg>cAg	p.R157Q		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	157					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|negative regulation of gene expression (GO:0010629)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of gene expression (GO:0010628)|response to estradiol (GO:0032355)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		CAGGATGCACGGGCAGCCATG	0.592											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000343737.5																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)	4						c.(469-471)cGg>cAg		wingless-type MMTV integration site family, member 8B							102.0	91.0	94.0					10																	102241771		2203	4300	6503	SO:0001583	missense	7479				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr10:102241771G>A	X91940	CCDS7494.1	10q24	2003-11-12			ENSG00000075290	ENSG00000075290		"""Wingless-type MMTV integration sites"""	12789	protein-coding gene	gene with protein product		601396				8661156	Standard	NM_003393		Approved		uc001krb.3	Q93098	OTTHUMG00000018912	ENST00000343737.5:c.470G>A	10.37:g.102241771G>A	ENSP00000340677:p.Arg157Gln		OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1365		p.R157Q	NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)	5	598	+		Colorectal(252;0.117)	157					O00771|Q5VX55|Q8WYK9	Missense_Mutation	SNP	ENST00000343737.5	37	c.470G>A	CCDS7494.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001882	0.93227	.	.	ENSG00000075290	ENST00000343737	T	0.76968	-1.06	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.87313	0.6146	M	0.62209	1.925	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87967	0.2734	10	0.87932	D	0	.	19.4761	0.94989	0.0:0.0:1.0:0.0	.	157	Q93098	WNT8B_HUMAN	Q	157	ENSP00000340677:R157Q	ENSP00000340677:R157Q	R	+	2	0	WNT8B	102231761	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.682000	0.91365	0.561000	0.74099	CGG		0.592	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049867.1	NM_003393		25	48	0	0	0	0.004656	0	25	48				
PRB2	653247	broad.mit.edu	37	12	11546873	11546873	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:11546873G>T	ENST00000389362.4	-	3	174	c.139C>A	c.(139-141)Cct>Act	p.P47T	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	47						extracellular region (GO:0005576)		p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGACCTTGAGGTTTGTTGCCT	0.537																																						ENST00000389362.4																			2	Unknown(1)|Deletion - In frame(1)	p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)	stomach(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(139-141)Cct>Act		proline-rich protein BstNI subfamily 2							126.0	141.0	136.0					12																	11546873		2156	4279	6435	SO:0001583	missense	653247							g.chr12:11546873G>T	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.139C>A	12.37:g.11546873G>T	ENSP00000374013:p.Pro47Thr					PRB1_ENST00000546254.1_Intron	p.P47T	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	174	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.139C>A	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	6.176	0.400647	0.11696	.	.	ENSG00000121335	ENST00000389362	T	0.04406	3.63	1.71	-1.27	0.09347	.	.	.	.	.	T	0.03739	0.0106	L	0.38838	1.175	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.44360	-0.9333	9	0.27785	T	0.31	.	4.8384	0.13476	0.1588:0.2495:0.5917:0.0	.	47	P02812	PRB2_HUMAN	T	47	ENSP00000374013:P47T	ENSP00000374013:P47T	P	-	1	0	PRB2	11438140	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	-0.316000	0.08071	-0.525000	0.06391	-0.661000	0.03856	CCT		0.537	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		144	181	1	0	2.60356e-62	0.003610	4.36003e-62	144	181				
RPS6KB1	6198	broad.mit.edu	37	17	58024140	58024140	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:58024140G>C	ENST00000225577.4	+	15	1590	c.1569G>C	c.(1567-1569)atG>atC	p.M523I	RP11-178C3.1_ENST00000591035.1_Intron|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.M470I|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.M500I|RPS6KB1_ENST00000406116.3_Intron	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	523	Autoinhibitory domain.				aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ACCTGCGTATGAATCTATGAC	0.463																																						ENST00000225577.4																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(1567-1569)atG>atC		ribosomal protein S6 kinase, 70kDa, polypeptide 1							73.0	69.0	71.0					17																	58024140		2203	4300	6503	SO:0001583	missense	6198				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity	g.chr17:58024140G>C	M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"""ribosomal protein S6 kinase, 70kD, polypeptide 1"""	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.1569G>C	17.37:g.58024140G>C	ENSP00000225577:p.Met523Ile					RP11-178C3.1_ENST00000591035.1_Intron|RPS6KB1_ENST00000406116.3_Intron|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.M470I|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.M500I	p.M523I	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)		15	1590	+	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		523			Autoinhibitory domain.		B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Missense_Mutation	SNP	ENST00000225577.4	37	c.1569G>C	CCDS11621.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684580	0.47991	.	.	ENSG00000108443	ENST00000443572;ENST00000225577;ENST00000393021	T;T;T	0.70045	-0.45;-0.28;-0.23	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.69566	0.3125	L	0.36672	1.1	0.80722	D	1	P;B	0.39044	0.656;0.16	P;B	0.48627	0.584;0.045	T	0.72354	-0.4319	10	0.66056	D	0.02	.	18.7992	0.92008	0.0:0.0:1.0:0.0	.	500;523	F6UYM1;P23443	.;KS6B1_HUMAN	I	500;523;470	ENSP00000441993:M500I;ENSP00000225577:M523I;ENSP00000376744:M470I	ENSP00000225577:M523I	M	+	3	0	RPS6KB1	55378922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.410000	0.97335	2.430000	0.82344	0.655000	0.94253	ATG		0.463	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319324.1	NM_003161		31	45	0	0	0	0.003271	0	31	45				
FMN2	56776	broad.mit.edu	37	1	240370643	240370643	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:240370643C>T	ENST00000319653.9	+	5	2761	c.2531C>T	c.(2530-2532)tCt>tTt	p.S844F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	844	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACGAACACTCTGTTTCCTCT	0.562																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2530-2532)tCt>tTt		formin 2							111.0	106.0	107.0					1																	240370643		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370643C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2531C>T	1.37:g.240370643C>T	ENSP00000318884:p.Ser844Phe						p.S844F	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2761	+	Ovarian(103;0.127)	all_cancers(173;0.013)	844			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2531C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	5.809	0.333470	0.11013	.	.	ENSG00000155816	ENST00000319653	T	0.35605	1.3	4.09	2.18	0.27775	Actin-binding FH2/DRF autoregulatory (1);	0.758933	0.11961	N	0.512711	T	0.23210	0.0561	L	0.32530	0.975	0.27490	N	0.952318	B	0.10296	0.003	B	0.08055	0.003	T	0.17289	-1.0374	9	.	.	.	.	5.098	0.14745	0.179:0.6482:0.0:0.1728	.	844	Q9NZ56	FMN2_HUMAN	F	844	ENSP00000318884:S844F	.	S	+	2	0	FMN2	238437266	0.000000	0.05858	0.324000	0.25361	0.504000	0.33889	0.282000	0.18829	1.048000	0.40298	0.555000	0.69702	TCT		0.562	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		73	68	0	0	0	0.003610	0	73	68				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			220729							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	152	0	0	0	0.001984	0	4	152				
OR4X2	119764	broad.mit.edu	37	11	48267430	48267430	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:48267430A>G	ENST00000302329.3	+	1	823	c.775A>G	c.(775-777)Ata>Gta	p.I259V		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CACTCTGCCCATAGACAAGAT	0.512																																						ENST00000302329.3																			0				breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(775-777)Ata>Gta		olfactory receptor, family 4, subfamily X, member 2							79.0	69.0	73.0					11																	48267430		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48267430A>G	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.775A>G	11.37:g.48267430A>G	ENSP00000307751:p.Ile259Val						p.I259V	NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN			1	823	+			259					B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.775A>G	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	A	0.110	-1.139554	0.01728	.	.	ENSG00000172208	ENST00000302329	T	0.00115	8.71	5.37	1.22	0.21188	GPCR, rhodopsin-like superfamily (1);	0.754501	0.11671	N	0.540801	T	0.00109	0.0003	L	0.31752	0.955	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.03717	-1.1010	10	0.23891	T	0.37	.	4.6149	0.12420	0.3381:0.157:0.5049:0.0	.	259	Q8NGF9	OR4X2_HUMAN	V	259	ENSP00000307751:I259V	ENSP00000307751:I259V	I	+	1	0	OR4X2	48224006	0.000000	0.05858	0.051000	0.19133	0.544000	0.35116	-1.124000	0.03260	0.622000	0.30249	-0.182000	0.12963	ATA		0.512	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		26	32	0	0	0	0.003330	0	26	32				
IRF8	3394	broad.mit.edu	37	16	85946795	85946795	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:85946795G>T	ENST00000268638.5	+	5	928	c.506G>T	c.(505-507)tGt>tTt	p.C169F	IRF8_ENST00000562492.1_5'Flank	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	169					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CCGGAGGCCTGTCGGAGTCAG	0.617																																						ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(505-507)tGt>tTt		interferon regulatory factor 8							95.0	100.0	98.0					16																	85946795		2198	4300	6498	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85946795G>T	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.506G>T	16.37:g.85946795G>T	ENSP00000268638:p.Cys169Phe						p.C169F	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			5	928	+		Prostate(104;0.0771)	169					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.506G>T	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342533	0.61073	.	.	ENSG00000140968	ENST00000268638	D	0.97041	-4.22	4.86	4.86	0.63082	.	0.506206	0.24479	N	0.038161	D	0.95354	0.8492	L	0.58101	1.795	0.80722	D	1	B	0.33073	0.396	B	0.33392	0.163	D	0.94497	0.7706	10	0.15499	T	0.54	-33.2094	18.3574	0.90362	0.0:0.0:1.0:0.0	.	169	Q02556	IRF8_HUMAN	F	169	ENSP00000268638:C169F	ENSP00000268638:C169F	C	+	2	0	IRF8	84504296	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.208000	0.77907	2.420000	0.82092	0.561000	0.74099	TGT		0.617	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		48	88	1	0	6.17242e-35	0.003610	1.00951e-34	48	88				
CYFIP1	23191	broad.mit.edu	37	15	22956494	22956494	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:22956494G>C	ENST00000313077.7	+	16	1856	c.1731G>C	c.(1729-1731)aaG>aaC	p.K577N	CYFIP1_ENST00000435939.2_Missense_Mutation_p.K146N|CYFIP1_ENST00000560848.1_Missense_Mutation_p.K577N	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GTGGTTCCAAGAAAACCTTGA	0.408																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1729-1731)aaG>aaC		cytoplasmic FMR1 interacting protein 1							76.0	72.0	73.0					15																	22956494		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22956494G>C	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1731G>C	15.37:g.22956494G>C	ENSP00000324549:p.Lys577Asn					CYFIP1_ENST00000435939.2_Missense_Mutation_p.K146N|CYFIP1_ENST00000560848.1_Missense_Mutation_p.K577N	p.K577N	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	16	1856	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	577						Missense_Mutation	SNP	ENST00000313077.7	37	c.1731G>C	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063767	0.93898	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.27557	1.66;1.66	5.74	5.74	0.90152	.	0.160332	0.44902	D	0.000401	T	0.61590	0.2359	M	0.82323	2.585	0.80722	D	1	D;D;P	0.69078	0.997;0.987;0.753	D;P;P	0.80764	0.994;0.868;0.86	T	0.60332	-0.7284	10	0.45353	T	0.12	-48.2093	20.2982	0.98569	0.0:0.0:1.0:0.0	.	605;146;577	E7EQ04;Q7L576-2;Q7L576	.;.;CYFP1_HUMAN	N	577;605;146	ENSP00000324549:K577N;ENSP00000405956:K146N	ENSP00000324549:K577N	K	+	3	2	CYFIP1	20507935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.643000	0.98464	2.873000	0.98535	0.563000	0.77884	AAG		0.408	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		32	15	0	0	0	0.001786	0	32	15				
ANKRD50	57182	broad.mit.edu	37	4	125600031	125600031	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr4:125600031T>G	ENST00000504087.1	-	3	1579	c.542A>C	c.(541-543)aAg>aCg	p.K181T	ANKRD50_ENST00000515641.1_Missense_Mutation_p.K2T	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	181										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTGGGGAGGCTTCATTCCCAG	0.398																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(541-543)aAg>aCg		ankyrin repeat domain 50							119.0	122.0	121.0					4																	125600031		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125600031T>G	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.542A>C	4.37:g.125600031T>G	ENSP00000425658:p.Lys181Thr					ANKRD50_ENST00000515641.1_Missense_Mutation_p.K2T	p.K181T	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			3	1579	-			181					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.542A>C	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.929521	0.34096	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.66280	2.16;-0.2	5.81	5.81	0.92471	.	0.261280	0.36972	N	0.002320	T	0.55970	0.1954	L	0.49455	1.56	0.46044	D	0.998838	B	0.11235	0.004	B	0.09377	0.004	T	0.52540	-0.8562	10	0.14252	T	0.57	.	16.1564	0.81670	0.0:0.0:0.0:1.0	.	181	Q9ULJ7	ANR50_HUMAN	T	181;2	ENSP00000425658:K181T;ENSP00000425355:K2T	ENSP00000425658:K181T	K	-	2	0	ANKRD50	125819481	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	4.295000	0.59049	2.228000	0.72767	0.477000	0.44152	AAG		0.398	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		3	99	0	0	0	0.004672	0	3	99				
FAM135B	51059	broad.mit.edu	37	8	139165165	139165165	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:139165165C>A	ENST00000395297.1	-	13	1723	c.1553G>T	c.(1552-1554)tGt>tTt	p.C518F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	518								p.C518F(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCCAGTCCAACATTCATCTTC	0.463										HNSCC(54;0.14)																												ENST00000395297.1																			2	Substitution - Missense(2)	p.C518F(2)	lung(2)	NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(1552-1554)tGt>tTt		family with sequence similarity 135, member B							134.0	127.0	129.0					8																	139165165		1959	4148	6107	SO:0001583	missense	51059							g.chr8:139165165C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1553G>T	8.37:g.139165165C>A	ENSP00000378710:p.Cys518Phe	HNSCC(54;0.14)					p.C518F	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1723	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		518					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1553G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	8.679	0.904754	0.17760	.	.	ENSG00000147724	ENST00000395297	T	0.14144	2.53	4.92	-0.962	0.10333	.	1.118960	0.06588	N	0.751478	T	0.11239	0.0274	L	0.54323	1.7	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.001	T	0.42849	-0.9427	10	0.10377	T	0.69	1.219	4.8929	0.13735	0.224:0.192:0.5014:0.0827	.	518;518;518	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	F	518	ENSP00000378710:C518F	ENSP00000276737:C518F	C	-	2	0	FAM135B	139234347	0.000000	0.05858	0.000000	0.03702	0.182000	0.23217	-0.096000	0.11059	-0.005000	0.14395	-0.211000	0.12701	TGT		0.463	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		41	165	1	0	2.24893e-16	0.002222	3.25259e-16	41	165				
NPY4R	5540	broad.mit.edu	37	10	47087602	47087602	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:47087602C>A	ENST00000395716.1	+	2	904	c.819C>A	c.(817-819)gcC>gcA	p.A273A	NPY4R_ENST00000374312.1_Silent_p.A273A			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	273					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										TGGTGGTGGCCTTTGCTGTGC	0.587																																						ENST00000374312.1																			0											c.(817-819)gcC>gcA		neuropeptide Y receptor Y4							156.0	111.0	126.0					10																	47087602		2203	4300	6503	SO:0001819	synonymous_variant	5540							g.chr10:47087602C>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.819C>A	10.37:g.47087602C>A						NPY4R_ENST00000395716.1_Silent_p.A273A	p.A273A	NM_005972.4	NP_005963.3					3	1238	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.819C>A	CCDS31193.1																																																																																				0.587	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			20	87	1	0	3.99206e-14	0.007413	5.56661e-14	20	87				
KRTAP11-1	337880	broad.mit.edu	37	21	32253706	32253706	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr21:32253706G>T	ENST00000332378.4	-	1	168	c.138C>A	c.(136-138)ttC>ttA	p.F46L		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	46						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AGCCAGTCTGGAAGGAACTGG	0.582																																						ENST00000332378.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						c.(136-138)ttC>ttA		keratin associated protein 11-1							71.0	68.0	69.0					21																	32253706		2203	4300	6503	SO:0001583	missense	337880					keratin filament	structural molecule activity	g.chr21:32253706G>T	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.138C>A	21.37:g.32253706G>T	ENSP00000330720:p.Phe46Leu						p.F46L	NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN			1	168	-			46					A1L4I8	Missense_Mutation	SNP	ENST00000332378.4	37	c.138C>A	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248073	0.59103	.	.	ENSG00000182591	ENST00000332378	T	0.03212	4.01	5.4	4.51	0.55191	.	0.394264	0.26612	N	0.023406	T	0.06462	0.0166	M	0.71581	2.175	0.34494	D	0.705297	B	0.18013	0.025	B	0.23419	0.046	T	0.03112	-1.1071	10	0.72032	D	0.01	-19.641	7.8756	0.29592	0.0866:0.1627:0.7507:0.0	.	46	Q8IUC1	KR111_HUMAN	L	46	ENSP00000330720:F46L	ENSP00000330720:F46L	F	-	3	2	KRTAP11-1	31175577	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.865000	0.48412	1.431000	0.47355	0.650000	0.86243	TTC		0.582	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			24	39	1	0	6.21321e-17	0.002780	9.02334e-17	24	39				
CAPN6	827	broad.mit.edu	37	X	110491846	110491846	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:110491846T>G	ENST00000324068.1	-	10	1602	c.1435A>C	c.(1435-1437)Acc>Ccc	p.T479P	CAPN6_ENST00000541758.1_Missense_Mutation_p.T224P	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	479	Domain III.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AACTCGCTGGTGCGACCATGC	0.502																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(1435-1437)Acc>Ccc		calpain 6							87.0	74.0	78.0					X																	110491846		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110491846T>G	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1435A>C	X.37:g.110491846T>G	ENSP00000317214:p.Thr479Pro					CAPN6_ENST00000541758.1_Missense_Mutation_p.T224P	p.T479P	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			10	1602	-			479			Domain III.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.1435A>C	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.339347	0.41398	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	D;D	0.87412	-2.25;-2.25	5.97	4.82	0.62117	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.101677	0.64402	D	0.000003	T	0.74786	0.3762	N	0.14661	0.345	0.38278	D	0.942333	B	0.18013	0.025	B	0.21360	0.034	T	0.71663	-0.4525	10	0.40728	T	0.16	.	7.3572	0.26725	0.0:0.1602:0.0:0.8398	.	479	Q9Y6Q1	CAN6_HUMAN	P	479;224	ENSP00000317214:T479P;ENSP00000441736:T224P	ENSP00000317214:T479P	T	-	1	0	CAPN6	110378502	0.446000	0.25665	0.999000	0.59377	0.997000	0.91878	1.014000	0.29950	2.009000	0.58944	0.486000	0.48141	ACC		0.502	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			15	4	0	0	0	0.004007	0	15	4				
EDF1	8721	broad.mit.edu	37	9	139754408	139754408	+	IGR	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:139754408G>A	ENST00000224073.1	-	0	640				MAMDC4_ENST00000317446.2_Silent_p.V1088V|MAMDC4_ENST00000445819.1_Silent_p.V1167V|MAMDC4_ENST00000485732.1_3'UTR	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1						endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TGCTCCTGGTGCTGCTGGGAC	0.627																																						ENST00000445819.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(3499-3501)gtG>gtA		MAM domain containing 4							61.0	60.0	60.0					9																	139754408		2198	4300	6498	SO:0001628	intergenic_variant	158056				protein transport	integral to membrane		g.chr9:139754408G>A	AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"""multiprotein bridging factor-1"""	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948		9.37:g.139754408G>A						MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.V1088V	p.V1167V			Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	28	3551	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	1167					Q5T5T2|Q9UIM1	Silent	SNP	ENST00000224073.1	37	c.3501G>A	CCDS7011.1	.	.	.	.	.	.	.	.	.	.	.	10.91	1.485233	0.26598	.	.	ENSG00000177943	ENST00000413647	.	.	.	4.77	0.807	0.18714	.	.	.	.	.	T	0.50990	0.1648	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34428	-0.9829	4	.	.	.	-8.5702	5.089	0.14698	0.2433:0.282:0.4746:0.0	.	.	.	.	T	1153	.	.	A	+	1	0	MAMDC4	138874229	0.000000	0.05858	0.714000	0.30535	0.974000	0.67602	-0.285000	0.08410	-0.047000	0.13423	0.561000	0.74099	GCT		0.627	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055143.1			24	29	0	0	0	0.003954	0	24	29				
FUK	197258	broad.mit.edu	37	16	70499039	70499039	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:70499039C>T	ENST00000288078.6	+	4	477	c.245C>T	c.(244-246)tCc>tTc	p.S82F	FUK_ENST00000378912.2_Missense_Mutation_p.S114F|FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Intron	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	82						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GTGGTCACATCCGATGTCCTG	0.572																																						ENST00000288078.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23						c.(244-246)tCc>tTc		fucokinase							55.0	53.0	54.0					16																	70499039		2017	4173	6190	SO:0001583	missense	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70499039C>T		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.245C>T	16.37:g.70499039C>T	ENSP00000288078:p.Ser82Phe					FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Missense_Mutation_p.S114F|FUK_ENST00000428974.2_Intron	p.S82F	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN			4	477	+		Ovarian(137;0.0694)	82					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	c.245C>T	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597449	0.46318	.	.	ENSG00000157353	ENST00000288078;ENST00000378912	T;T	0.08546	3.15;3.08	4.8	4.8	0.61643	.	0.145269	0.46442	D	0.000296	T	0.12008	0.0292	L	0.56769	1.78	0.80722	D	1	P;B	0.42203	0.773;0.437	B;B	0.41764	0.366;0.156	T	0.00797	-1.1562	10	0.56958	D	0.05	-10.0173	12.1926	0.54280	0.0:0.9197:0.0:0.0802	.	114;82	Q8N0W3-2;Q8N0W3	.;FUK_HUMAN	F	82;114	ENSP00000288078:S82F;ENSP00000368192:S114F	ENSP00000288078:S82F	S	+	2	0	FUK	69056540	0.476000	0.25901	0.256000	0.24389	0.707000	0.40811	4.805000	0.62561	2.615000	0.88500	0.650000	0.86243	TCC		0.572	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		11	14	0	0	0	0.001855	0	11	14				
NPY5R	4889	broad.mit.edu	37	4	164272687	164272687	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr4:164272687A>G	ENST00000515560.1	+	4	2784	c.1262A>G	c.(1261-1263)aAt>aGt	p.N421S	NPY5R_ENST00000506953.1_Missense_Mutation_p.N421S|NPY5R_ENST00000338566.3_Missense_Mutation_p.N421S			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	421					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGTTGTCTTAATCCAATTCTA	0.328																																					Melanoma(139;1287 1774 9781 19750 25599)	ENST00000515560.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1261-1263)aAt>aGt		neuropeptide Y receptor Y5							110.0	110.0	110.0					4																	164272687		2202	4300	6502	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164272687A>G	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.1262A>G	4.37:g.164272687A>G	ENSP00000423917:p.Asn421Ser					NPY5R_ENST00000506953.1_Missense_Mutation_p.N421S|NPY5R_ENST00000338566.3_Missense_Mutation_p.N421S	p.N421S			Q15761	NPY5R_HUMAN			4	2784	+	all_hematologic(180;0.166)	Prostate(90;0.109)	421					Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.1262A>G	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.723047	0.68959	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	D;D;D	0.85484	-1.99;-1.99;-1.99	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	D	0.93446	0.7909	M	0.89840	3.065	0.49798	D	0.999826	D	0.89917	1.0	D	0.87578	0.998	D	0.94786	0.7958	10	0.87932	D	0	.	14.9133	0.70776	1.0:0.0:0.0:0.0	.	421	Q15761	NPY5R_HUMAN	S	421	ENSP00000339377:N421S;ENSP00000423917:N421S;ENSP00000423474:N421S	ENSP00000339377:N421S	N	+	2	0	NPY5R	164492137	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.876000	0.87215	1.981000	0.57761	0.377000	0.23210	AAT		0.328	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		45	20	0	0	0	0.003610	0	45	20				
CPQ	10404	broad.mit.edu	37	8	97978226	97978226	+	Missense_Mutation	SNP	G	G	A	rs373415893		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:97978226G>A	ENST00000220763.5	+	5	1123	c.913G>A	c.(913-915)Ggt>Agt	p.G305S		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	305					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										GGATGATGGCGGTGGAGCCTT	0.378																																						ENST00000220763.5																			0											c.(913-915)Ggt>Agt		carboxypeptidase Q		G	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	98.0	97.0	98.0		913	4.1	1.0	8		98	0,8600		0,0,4300	no	missense	PGCP	NM_016134.2	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	305/473	97978226	1,13005	2203	4300	6503	SO:0001583	missense	10404				peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	g.chr8:97978226G>A	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.913G>A	8.37:g.97978226G>A	ENSP00000220763:p.Gly305Ser						p.G305S	NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN			5	1123	+			305					B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	ENST00000220763.5	37	c.913G>A	CCDS6273.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.668052	0.67814	2.27E-4	0.0	ENSG00000104324	ENST00000220763	T	0.36878	1.23	5.94	4.14	0.48551	Peptidase M28 (1);	0.191964	0.46442	N	0.000298	T	0.25606	0.0623	N	0.16166	0.38	0.45415	D	0.998397	P;P	0.45672	0.864;0.814	P;P	0.48425	0.552;0.577	T	0.02813	-1.1107	10	0.11182	T	0.66	-2.2955	10.4502	0.44518	0.1514:0.0:0.8486:0.0	.	305;305	B5MDX4;Q9Y646	.;PGCP_HUMAN	S	305	ENSP00000220763:G305S	ENSP00000220763:G305S	G	+	1	0	AC010859.1	98047402	1.000000	0.71417	0.951000	0.38953	0.990000	0.78478	5.541000	0.67212	1.524000	0.49035	0.561000	0.74099	GGT		0.378	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134		3	56	0	0	0	0.000602	0	3	56				
PKD2L1	9033	broad.mit.edu	37	10	102050202	102050202	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:102050202C>A	ENST00000318222.3	-	13	2464	c.2082G>T	c.(2080-2082)gaG>gaT	p.E694D	PKD2L1_ENST00000338519.3_Missense_Mutation_p.E619D|PKD2L1_ENST00000353274.3_Missense_Mutation_p.E694D	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	694					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTCTGGCAGCCTCTGGACCCG	0.527																																						ENST00000318222.3																			0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2080-2082)gaG>gaT		polycystic kidney disease 2-like 1							67.0	58.0	61.0					10																	102050202		2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102050202C>A	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.2082G>T	10.37:g.102050202C>A	ENSP00000325296:p.Glu694Asp					PKD2L1_ENST00000338519.3_Missense_Mutation_p.E619D|PKD2L1_ENST00000353274.3_Missense_Mutation_p.E694D	p.E694D	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	13	2464	-		Colorectal(252;0.117)	694					O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.2082G>T	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	3.893	-0.023639	0.07634	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.60797	0.36;0.16;0.22	5.05	3.12	0.35913	.	0.637137	0.15380	N	0.265346	T	0.37732	0.1014	L	0.28274	0.84	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.13415	-1.0510	10	0.24483	T	0.36	-14.4003	4.5268	0.11985	0.3044:0.527:0.0:0.1686	.	647;694	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	D	619;694;694;692	ENSP00000345068:E619D;ENSP00000266049:E694D;ENSP00000325296:E694D	ENSP00000325296:E694D	E	-	3	2	PKD2L1	102040192	0.000000	0.05858	0.994000	0.49952	0.087000	0.18053	-0.057000	0.11768	1.130000	0.42092	0.313000	0.20887	GAG		0.527	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		8	23	1	0	0.000157383	0.003080	0.000189945	8	23				
DCHS1	8642	broad.mit.edu	37	11	6643935	6643935	+	Missense_Mutation	SNP	C	C	T	rs200152314	byFrequency	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:6643935C>T	ENST00000299441.3	-	21	9383	c.8972G>A	c.(8971-8973)cGg>cAg	p.R2991Q	RP11-732A19.9_ENST00000545572.1_RNA|RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2991					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTGGCTCCCGGCCCAGTTT	0.642													C|||	4	0.000798722	0.003	0.0	5008	,	,		18024	0.0		0.0	False		,,,				2504	0.0					ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(8971-8973)cGg>cAg		dachsous cadherin-related 1																																				SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6643935C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.8972G>A	11.37:g.6643935C>T	ENSP00000299441:p.Arg2991Gln						p.R2991Q	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	9383	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2991					O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.8972G>A	CCDS7771.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	5.515	0.279895	0.10458	.	.	ENSG00000166341	ENST00000299441	T	0.54675	0.56	4.71	4.71	0.59529	.	0.000000	0.32563	N	0.005932	T	0.50205	0.1602	L	0.34521	1.04	0.32176	N	0.581039	D	0.71674	0.998	P	0.58520	0.84	T	0.50197	-0.8856	10	0.13108	T	0.6	.	8.7988	0.34896	0.0:0.8294:0.0:0.1706	.	2991	Q96JQ0	PCD16_HUMAN	Q	2991	ENSP00000299441:R2991Q	ENSP00000299441:R2991Q	R	-	2	0	DCHS1	6600511	0.935000	0.31712	1.000000	0.80357	0.005000	0.04900	1.909000	0.39917	2.450000	0.82876	0.655000	0.94253	CGG		0.642	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		5	5	0	0	0	0.000602	0	5	5				
GALNTL5	168391	broad.mit.edu	37	7	151699803	151699803	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:151699803T>A	ENST00000392800.2	+	6	917	c.663T>A	c.(661-663)gaT>gaA	p.D221E	GALNTL5_ENST00000483959.1_3'UTR|GALNTL5_ENST00000431418.2_Missense_Mutation_p.D221E	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	221	Catalytic subdomain A.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CCCCAGGGGATGTTCTGGTGT	0.498																																						ENST00000392800.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32						c.(661-663)gaT>gaA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5							80.0	73.0	75.0					7																	151699803		2203	4300	6503	SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151699803T>A	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.663T>A	7.37:g.151699803T>A	ENSP00000376548:p.Asp221Glu					GALNTL5_ENST00000431418.2_Missense_Mutation_p.D221E|GALNTL5_ENST00000483959.1_3'UTR	p.D221E	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	6	917	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	221			Catalytic subdomain A.		Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	c.663T>A	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	T	4.700	0.130073	0.08981	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.61040	0.14;0.14	4.83	-9.66	0.00534	Glycosyl transferase, family 2 (1);	0.135832	0.33875	N	0.004466	T	0.25382	0.0617	N	0.16743	0.435	0.23708	N	0.997058	B	0.25235	0.121	B	0.30316	0.114	T	0.39035	-0.9633	10	0.08599	T	0.76	.	4.6922	0.12786	0.297:0.092:0.0688:0.5421	.	221	Q7Z4T8	GLTL5_HUMAN	E	221	ENSP00000392582:D221E;ENSP00000376548:D221E	ENSP00000376548:D221E	D	+	3	2	GALNTL5	151330736	0.000000	0.05858	0.012000	0.15200	0.895000	0.52256	-2.225000	0.01212	-2.681000	0.00408	-1.167000	0.01749	GAT		0.498	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		25	12	0	0	0	0.002780	0	25	12				
PLXNA1	5361	broad.mit.edu	37	3	126736700	126736700	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:126736700G>A	ENST00000393409.2	+	18	3625	c.3625G>A	c.(3625-3627)Gag>Aag	p.E1209K	PLXNA1_ENST00000251772.4_Missense_Mutation_p.E1186K	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1209	IPT/TIG 4.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACTGCTGTGCGAGGCGCCCAA	0.662																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(3556-3558)Gag>Aag		plexin A1							70.0	63.0	65.0					3																	126736700		2203	4299	6502	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126736700G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3625G>A	3.37:g.126736700G>A	ENSP00000377061:p.Glu1209Lys					PLXNA1_ENST00000393409.2_Missense_Mutation_p.E1209K	p.E1186K			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	18	3625	+			1209			IPT/TIG 4.			Missense_Mutation	SNP	ENST00000393409.2	37	c.3556G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196947	0.79015	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.76578	-1.03;-1.03	4.49	4.49	0.54785	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.083363	0.49305	D	0.000146	T	0.81394	0.4813	M	0.87682	2.9	0.80722	D	1	B	0.13145	0.007	B	0.21151	0.033	T	0.80274	-0.1451	10	0.40728	T	0.16	.	17.3544	0.87331	0.0:0.0:1.0:0.0	.	1209	Q9UIW2	PLXA1_HUMAN	K	1209;1186	ENSP00000377061:E1209K;ENSP00000251772:E1186K	ENSP00000251772:E1186K	E	+	1	0	PLXNA1	128219390	1.000000	0.71417	0.998000	0.56505	0.841000	0.47740	9.621000	0.98376	2.316000	0.78162	0.591000	0.81541	GAG		0.662	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		22	71	0	0	0	0.002780	0	22	71				
PRAMEF10	343071	broad.mit.edu	37	1	12955542	12955542	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:12955542A>C	ENST00000235347.4	-	2	216	c.137T>G	c.(136-138)aTg>aGg	p.M46R		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	46					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAACGTCTCATGCTGAAGGC	0.572																																						ENST00000235347.4																			0				NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(136-138)aTg>aGg		PRAME family member 10							38.0	37.0	38.0					1																	12955542		2091	3762	5853	SO:0001583	missense	343071							g.chr1:12955542A>C	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.137T>G	1.37:g.12955542A>C	ENSP00000235347:p.Met46Arg						p.M46R	NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	216	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	46					Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	c.137T>G	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.804134	0.00611	.	.	ENSG00000187545	ENST00000235347	T	0.10192	2.9	1.99	-3.36	0.04913	.	1.181070	0.06056	N	0.657500	T	0.01592	0.0051	N	0.00060	-2.34	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40553	-0.9557	10	0.18710	T	0.47	.	2.8525	0.05562	0.2123:0.3287:0.0:0.4589	.	46	O60809	PRA10_HUMAN	R	46	ENSP00000235347:M46R	ENSP00000235347:M46R	M	-	2	0	PRAMEF10	12878129	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.901000	0.04093	-0.902000	0.03886	-0.910000	0.02820	ATG		0.572	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		33	21	0	0	0	0.002852	0	33	21				
PGM5	5239	broad.mit.edu	37	9	71098829	71098829	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:71098829G>T	ENST00000396396.1	+	9	1573	c.1344G>T	c.(1342-1344)agG>agT	p.R448S		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	448					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ATATCATGAGGGACCTGGAGG	0.507																																						ENST00000396396.1																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(1342-1344)agG>agT		phosphoglucomutase 5							107.0	95.0	99.0					9																	71098829		2203	4300	6503	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71098829G>T	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1344G>T	9.37:g.71098829G>T	ENSP00000379678:p.Arg448Ser						p.R448S	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN			9	1573	+			448					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.1344G>T	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	G	8.226	0.803546	0.16467	.	.	ENSG00000154330	ENST00000396396	T	0.39997	1.05	5.75	2.55	0.30701	.	0.042824	0.85682	D	0.000000	T	0.19765	0.0475	N	0.12182	0.205	0.49130	D	0.999753	B	0.22909	0.077	B	0.26614	0.071	T	0.04255	-1.0965	10	0.12430	T	0.62	.	5.4794	0.16715	0.497:0.0:0.503:0.0	.	448	Q15124	PGM5_HUMAN	S	448	ENSP00000379678:R448S	ENSP00000379678:R448S	R	+	3	2	PGM5	70288649	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	0.303000	0.19210	0.780000	0.33566	0.655000	0.94253	AGG		0.507	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		29	57	1	0	7.38237e-10	0.006320	9.67726e-10	29	57				
ENPP3	5169	broad.mit.edu	37	6	132061454	132061454	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:132061454C>T	ENST00000414305.1	+	25	2719	c.2391C>T	c.(2389-2391)tgC>tgT	p.C797C	ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Silent_p.C797C			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	797	Nuclease.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CGGAAAACTGCCCTGGGTGGC	0.512																																						ENST00000414305.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2389-2391)tgC>tgT		ectonucleotide pyrophosphatase/phosphodiesterase 3							120.0	106.0	110.0					6																	132061454		2203	4300	6503	SO:0001819	synonymous_variant	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132061454C>T	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.2391C>T	6.37:g.132061454C>T						ENPP3_ENST00000357639.3_Silent_p.C797C|ENPP3_ENST00000358229.5_3'UTR	p.C797C			O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	25	2719	+	Breast(56;0.0753)		797			Nuclease.		Q5JTL3	Silent	SNP	ENST00000414305.1	37	c.2391C>T	CCDS5148.1																																																																																				0.512	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			31	50	0	0	0	0.002096	0	31	50				
PCDHGA2	56113	broad.mit.edu	37	5	140718609	140718609	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:140718609G>T	ENST00000394576.2	+	1	71	c.71G>T	c.(70-72)tGg>tTg	p.W24L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	24					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGACCCTGTGGGAGGCCAGG	0.577											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(70-72)tGg>tTg									54.0	55.0	54.0					5																	140718609		2203	4300	6503	SO:0001583	missense	56113							g.chr5:140718609G>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.71G>T	5.37:g.140718609G>T	ENSP00000378077:p.Trp24Leu		OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_ENST00000517417.1_Intron	p.W24L	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	71	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.71G>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	11.95	1.790210	0.31685	.	.	ENSG00000081853	ENST00000394576	T	0.46451	0.87	5.07	4.19	0.49359	Cadherin (1);	0.000000	0.39146	U	0.001450	T	0.27731	0.0682	L	0.28649	0.875	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.12837	0.008;0.005	T	0.15867	-1.0422	10	0.17832	T	0.49	.	9.1054	0.36694	0.0792:0.147:0.7738:0.0	.	24;24	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	L	24	ENSP00000378077:W24L	ENSP00000378077:W24L	W	+	2	0	PCDHGA2	140698793	0.982000	0.34865	0.353000	0.25747	0.156000	0.22039	2.306000	0.43673	1.268000	0.44264	0.585000	0.79938	TGG		0.577	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		19	42	1	0	1.67942e-08	0.006122	2.16101e-08	19	42				
CMTM1	113540	broad.mit.edu	37	16	66603837	66603837	+	Splice_Site	SNP	A	A	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:66603837A>T	ENST00000457188.2	+	2	202		c.e2-1		CMTM1_ENST00000379500.2_Splice_Site|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000528324.1_Splice_Site|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000328020.6_Splice_Site|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000529506.1_Intron	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1						chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CTTTTATTGCAGAGTCTTATC	0.323																																						ENST00000379500.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.e2-1		CKLF-like MARVEL transmembrane domain containing 1							106.0	105.0	105.0					16																	66603837		2200	4300	6500	SO:0001630	splice_region_variant	113540				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66603837A>T	AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"""chemokine-like factor super family 1"", ""chemokine-like factor superfamily 1"""	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.82-1A>T	16.37:g.66603837A>T						CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000328020.6_Splice_Site|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000528324.1_Splice_Site|CMTM1_ENST00000457188.2_Splice_Site		NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)	2	499	+		Ovarian(137;0.0563)						Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Splice_Site	SNP	ENST00000457188.2	37		CCDS45503.1	.	.	.	.	.	.	.	.	.	.	A	15.27	2.784400	0.49997	.	.	ENSG00000089505	ENST00000528324;ENST00000457188;ENST00000379500;ENST00000328020	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7674	0.57399	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CMTM1	65161338	0.999000	0.42202	0.517000	0.27799	0.163000	0.22366	4.315000	0.59172	2.270000	0.75569	0.460000	0.39030	.		0.323	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2	NM_052999	Intron	31	57	0	0	0	0.001786	0	31	57				
ZNF112	7771	broad.mit.edu	37	19	44832694	44832694	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:44832694C>G	ENST00000337401.4	-	5	1722	c.1634G>C	c.(1633-1635)aGa>aCa	p.R545T	ZNF112_ENST00000354340.4_Missense_Mutation_p.R539T|ZNF112_ENST00000536500.1_Missense_Mutation_p.R562T	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	545					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TGTGTGGACTCTCTGATGAAC	0.423																																						ENST00000354340.4																			0											c.(1615-1617)aGa>aCa		zinc finger protein 112							133.0	136.0	135.0					19																	44832694		2203	4300	6503	SO:0001583	missense	7665							g.chr19:44832694C>G	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1634G>C	19.37:g.44832694C>G	ENSP00000337081:p.Arg545Thr					ZNF112_ENST00000536500.1_Missense_Mutation_p.R562T|ZNF112_ENST00000337401.4_Missense_Mutation_p.R545T	p.R539T	NM_013380.3	NP_037512.3					4	1667	-								A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.1616G>C	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197441	0.58126	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.02421	4.3;4.3;4.3	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36268	N	0.002698	T	0.12987	0.0315	M	0.66560	2.04	0.33973	D	0.647089	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.986;0.992	T	0.01879	-1.1255	10	0.66056	D	0.02	-6.2909	14.011	0.64495	0.0:0.8474:0.1526:0.0	.	544;562;545	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	T	545;545;539;562;544	ENSP00000337081:R545T;ENSP00000346305:R539T;ENSP00000441990:R562T	ENSP00000253426:R544T	R	-	2	0	ZNF285	49524534	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	-0.175000	0.09825	2.541000	0.85698	0.655000	0.94253	AGA		0.423	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		61	101	0	0	0	0.003610	0	61	101				
WBSCR17	64409	broad.mit.edu	37	7	71142291	71142291	+	Splice_Site	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:71142291G>T	ENST00000333538.5	+	9	2134	c.1500G>T	c.(1498-1500)caG>caT	p.Q500H	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	500	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGGGACCACAGGTAGGAGCTC	0.537																																						ENST00000333538.5																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.e9+1		Williams-Beuren syndrome chromosome region 17							147.0	144.0	145.0					7																	71142291		2203	4300	6503	SO:0001630	splice_region_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71142291G>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1500+1G>T	7.37:g.71142291G>T						WBSCR17_ENST00000498380.2_3'UTR	p.Q500_splice	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			9	2134	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	500			Ricin B-type lectin.		Q8NFV9|Q9NTA8	Splice_Site	SNP	ENST00000333538.5	37	c.1500_splice	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766463	0.90020	.	.	ENSG00000185274	ENST00000333538	T	0.68765	-0.35	5.35	5.35	0.76521	Ricin B-related lectin (1);Ricin B lectin (3);	0.178264	0.51477	N	0.000095	D	0.85522	0.5716	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88003	0.2757	10	0.87932	D	0	.	18.2305	0.89934	0.0:0.0:1.0:0.0	.	500	Q6IS24	GLTL3_HUMAN	H	500	ENSP00000329654:Q500H	ENSP00000329654:Q500H	Q	+	3	2	WBSCR17	70780227	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.258000	0.78371	2.779000	0.95612	0.650000	0.86243	CAG		0.537	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	Missense_Mutation	61	111	1	0	1.03172e-35	0.003610	1.69532e-35	61	111				
LAMA1	284217	broad.mit.edu	37	18	7079974	7079974	+	Splice_Site	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr18:7079974C>G	ENST00000389658.3	-	3	438	c.345G>C	c.(343-345)caG>caC	p.Q115H	RP11-76K13.3_ENST00000581502.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	115	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCTCACCTACCTGTCTTAAGT	0.468																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.e3+1		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						173.0	129.0	144.0					18																	7079974		2203	4300	6503	SO:0001630	splice_region_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7079974C>G	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.345+1G>C	18.37:g.7079974C>G						RP11-76K13.3_ENST00000581502.1_RNA	p.Q115_splice	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			3	438	-		Colorectal(10;0.172)	115			Laminin N-terminal.			Splice_Site	SNP	ENST00000389658.3	37	c.345_splice	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644320	0.87859	.	.	ENSG00000101680	ENST00000389658	T	0.76448	-1.02	5.61	5.61	0.85477	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.89368	0.6695	M	0.90309	3.105	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.90709	0.4626	9	.	.	.	.	12.904	0.58141	0.0:0.9261:0.0:0.0739	.	115	P25391	LAMA1_HUMAN	H	115	ENSP00000374309:Q115H	.	Q	-	3	2	LAMA1	7069974	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.782000	0.68973	2.652000	0.90054	0.655000	0.94253	CAG		0.468	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	Missense_Mutation	9	59	0	0	0	0.004482	0	9	59				
ABCD2	225	broad.mit.edu	37	12	39947723	39947723	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:39947723C>G	ENST00000308666.3	-	10	2349	c.2214G>C	c.(2212-2214)gaG>gaC	p.E738D		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	738					fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						ATTAAGATGTCTCATCTTCAT	0.323																																						ENST00000308666.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(2212-2214)gaG>gaC		ATP-binding cassette, sub-family D (ALD), member 2							48.0	45.0	46.0					12																	39947723		2201	4298	6499	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:39947723C>G	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.2214G>C	12.37:g.39947723C>G	ENSP00000310688:p.Glu738Asp						p.E738D	NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN			10	2349	-			738					B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.2214G>C	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	1.802	-0.476821	0.04414	.	.	ENSG00000173208	ENST00000308666	D	0.94330	-3.4	4.44	-1.06	0.10002	.	1.245250	0.05397	N	0.539993	D	0.82907	0.5139	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.70608	-0.4825	9	.	.	.	-27.193	5.5709	0.17196	0.0:0.3827:0.1419:0.4754	.	738	Q9UBJ2	ABCD2_HUMAN	D	738	ENSP00000310688:E738D	.	E	-	3	2	ABCD2	38233990	0.007000	0.16637	0.018000	0.16275	0.492000	0.33523	-0.187000	0.09656	-0.079000	0.12707	-0.253000	0.11424	GAG		0.323	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		4	7	0	0	0	0.000248	0	4	7				
NPAP1	23742	broad.mit.edu	37	15	24923926	24923926	+	Missense_Mutation	SNP	C	C	G	rs267604139		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:24923926C>G	ENST00000329468.2	+	1	3386	c.2912C>G	c.(2911-2913)gCt>gGt	p.A971G		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	971					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											AATGCAAGTGCTTTCCCCAAT	0.483																																						ENST00000329468.2																			0											c.(2911-2913)gCt>gGt		nuclear pore associated protein 1							70.0	71.0	71.0					15																	24923926		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24923926C>G	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2912C>G	15.37:g.24923926C>G	ENSP00000333735:p.Ala971Gly						p.A971G	NM_018958.2	NP_061831.2					1	3386	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.2912C>G	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	4.084	0.013468	0.07959	.	.	ENSG00000185823	ENST00000329468	T	0.07114	3.22	1.93	-0.453	0.12201	.	1.256340	0.06000	N	0.647540	T	0.03739	0.0106	N	0.19112	0.55	0.09310	N	1	P	0.50710	0.938	B	0.31751	0.135	T	0.40421	-0.9564	10	0.24483	T	0.36	.	4.4001	0.11383	0.0:0.5669:0.0:0.4331	.	971	Q9NZP6	CO002_HUMAN	G	971	ENSP00000333735:A971G	ENSP00000333735:A971G	A	+	2	0	C15orf2	22475019	0.000000	0.05858	0.002000	0.10522	0.117000	0.20001	-0.361000	0.07612	-0.102000	0.12197	0.313000	0.20887	GCT		0.483	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		28	16	0	0	0	0.005443	0	28	16				
RYR2	6262	broad.mit.edu	37	1	237660034	237660034	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:237660034G>C	ENST00000366574.2	+	20	2502	c.2185G>C	c.(2185-2187)Ggc>Cgc	p.G729R	RYR2_ENST00000360064.6_Missense_Mutation_p.G727R|RYR2_ENST00000542537.1_Missense_Mutation_p.G713R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	729	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGATTTGATGGCCTTCATCT	0.493																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(2185-2187)Ggc>Cgc		ryanodine receptor 2 (cardiac)							157.0	163.0	161.0					1																	237660034		1969	4163	6132	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237660034G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2185G>C	1.37:g.237660034G>C	ENSP00000355533:p.Gly729Arg					RYR2_ENST00000542537.1_Missense_Mutation_p.G713R|RYR2_ENST00000360064.6_Missense_Mutation_p.G727R	p.G729R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		20	2502	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	729			B30.2/SPRY 1.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2185G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888374	0.91814	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.71461	-0.57;-0.57;-0.57	5.98	5.98	0.97165	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000004	D	0.90438	0.7006	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92655	0.6136	10	0.87932	D	0	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	729	Q92736	RYR2_HUMAN	R	729;727;713	ENSP00000355533:G729R;ENSP00000353174:G727R;ENSP00000443798:G713R	ENSP00000353174:G727R	G	+	1	0	RYR2	235726657	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.813000	0.99286	2.835000	0.97688	0.650000	0.86243	GGC		0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		65	188	0	0	0	0.003610	0	65	188				
LUM	4060	broad.mit.edu	37	12	91502199	91502199	+	Silent	SNP	G	G	C	rs144214151		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:91502199G>C	ENST00000266718.4	-	2	1012	c.558C>G	c.(556-558)ctC>ctG	p.L186L	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	186					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CAAGGTATTCGAGTGATTTAA	0.433																																						ENST00000266718.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(556-558)ctC>ctG		lumican							121.0	119.0	120.0					12																	91502199		2203	4300	6503	SO:0001819	synonymous_variant	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91502199G>C	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.558C>G	12.37:g.91502199G>C						LUM_ENST00000548071.1_Intron	p.L186L	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN			2	1012	-			186					B2R6R5|Q96QM7	Silent	SNP	ENST00000266718.4	37	c.558C>G	CCDS9038.1																																																																																				0.433	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		40	12	0	0	0	0.006230	0	40	12				
INHBA	3624	broad.mit.edu	37	7	41739824	41739824	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:41739824G>T	ENST00000242208.4	-	2	395	c.149C>A	c.(148-150)tCt>tAt	p.S50Y	INHBA-AS1_ENST00000422822.1_RNA|INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000420821.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.S50Y	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	50					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.S50Y(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTCTGGCTGAGAGTTGGGTAC	0.612										TSP Lung(11;0.080)																												ENST00000242208.4																			1	Substitution - Missense(1)	p.S50Y(1)	lung(1)	biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(148-150)tCt>tAt		inhibin, beta A							186.0	201.0	196.0					7																	41739824		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41739824G>T		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.149C>A	7.37:g.41739824G>T	ENSP00000242208:p.Ser50Tyr	TSP Lung(11;0.080)				INHBA-AS1_ENST00000415848.2_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000422822.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.S50Y	p.S50Y	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN			2	395	-			50					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.149C>A	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637213	0.67130	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.66638	-0.22;-0.22	5.49	5.49	0.81192	Transforming growth factor-beta, N-terminal (1);	0.748591	0.12890	N	0.430655	T	0.73140	0.3549	L	0.44542	1.39	0.50813	D	0.999899	B	0.30793	0.295	P	0.44518	0.452	T	0.70901	-0.4746	10	0.66056	D	0.02	-1.1473	19.3797	0.94527	0.0:0.0:1.0:0.0	.	50	P08476	INHBA_HUMAN	Y	50	ENSP00000242208:S50Y;ENSP00000397197:S50Y	ENSP00000242208:S50Y	S	-	2	0	INHBA	41706349	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	5.483000	0.66838	2.576000	0.86940	0.655000	0.94253	TCT		0.612	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			187	256	1	0	7.59282e-81	0.014410	1.26672e-80	187	256				
CCDC181	57821	broad.mit.edu	37	1	169390813	169390813	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:169390813C>T	ENST00000367806.3	-	3	1008	c.856G>A	c.(856-858)Gag>Aag	p.E286K	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000545005.1_Missense_Mutation_p.E286K|CCDC181_ENST00000367805.3_Missense_Mutation_p.E286K	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	286						nucleus (GO:0005634)											GCCAGCGGCTCTCCTGTTGAT	0.473																																						ENST00000545005.1																			0											c.(856-858)Gag>Aag		coiled-coil domain containing 181							152.0	143.0	146.0					1																	169390813		2203	4300	6503	SO:0001583	missense	57821							g.chr1:169390813C>T	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.856G>A	1.37:g.169390813C>T	ENSP00000356780:p.Glu286Lys					CCDC181_ENST00000367805.3_Missense_Mutation_p.E286K|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.E286K	p.E286K							4	1363	-								O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37	c.856G>A		.	.	.	.	.	.	.	.	.	.	C	13.39	2.222299	0.39300	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.24538	1.86;1.86;1.86;1.85	5.02	4.11	0.48088	.	0.264165	0.37437	N	0.002096	T	0.38081	0.1027	M	0.72118	2.19	0.31629	N	0.649308	P;D;D	0.89917	0.93;1.0;1.0	P;D;D	0.85130	0.71;0.997;0.997	T	0.42015	-0.9476	9	0.54805	T	0.06	-9.0945	13.3503	0.60597	0.0:0.9223:0.0:0.0777	.	286;286;286	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	K	286	ENSP00000356779:E286K;ENSP00000356780:E286K;ENSP00000442297:E286K;ENSP00000411000:E286K	ENSP00000356779:E286K	E	-	1	0	C1orf114	167657437	0.605000	0.26941	0.852000	0.33557	0.249000	0.25844	2.373000	0.44266	1.124000	0.41980	-0.384000	0.06662	GAG		0.473	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		53	142	0	0	0	0.014410	0	53	142				
ROS1	6098	broad.mit.edu	37	6	117683782	117683782	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:117683782C>A	ENST00000368508.3	-	21	3563	c.3365G>T	c.(3364-3366)tGc>tTc	p.C1122F	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.C1117F	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1122	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGCAATAAAGCATCTGGGACT	0.408			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(3364-3366)tGc>tTc		c-ros oncogene 1 , receptor tyrosine kinase							107.0	95.0	99.0					6																	117683782		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117683782C>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3365G>T	6.37:g.117683782C>A	ENSP00000357494:p.Cys1122Phe					GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.C1117F	p.C1122F	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	21	3563	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1122			Fibronectin type-III 5.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.3365G>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.050180	0.00394	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.56776	0.44;0.44	5.03	1.25	0.21368	.	0.700302	0.13472	N	0.385352	T	0.10121	0.0248	N	0.22421	0.69	0.09310	N	0.999999	B	0.18013	0.025	B	0.16722	0.016	T	0.28427	-1.0044	10	0.10377	T	0.69	.	1.0487	0.01575	0.1408:0.1877:0.2856:0.3859	.	1122	P08922	ROS1_HUMAN	F	1122;1117	ENSP00000357494:C1122F;ENSP00000357493:C1117F	ENSP00000357493:C1117F	C	-	2	0	ROS1	117790475	0.007000	0.16637	0.258000	0.24420	0.072000	0.16883	1.061000	0.30542	0.110000	0.17919	0.655000	0.94253	TGC		0.408	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			12	26	1	0	0.00010058	0.013537	0.000120197	12	26				
CFAP43	80217	broad.mit.edu	37	10	105893540	105893540	+	Silent	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr10:105893540A>G	ENST00000357060.3	-	35	4549	c.4434T>C	c.(4432-4434)acT>acC	p.T1478T	WDR96_ENST00000479392.1_5'UTR|WDR96_ENST00000428666.1_Silent_p.T1450T	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTTGTCCTTGAGTCTTTAAAA	0.318																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4432-4434)acT>acC		WD repeat domain 96							115.0	108.0	111.0					10																	105893540		2203	4300	6503	SO:0001819	synonymous_variant	80217							g.chr10:105893540A>G																												ENST00000357060.3:c.4434T>C	10.37:g.105893540A>G						WDR96_ENST00000479392.1_5'UTR|WDR96_ENST00000428666.1_Silent_p.T1450T	p.T1478T	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			35	4549	-			1478						Silent	SNP	ENST00000357060.3	37	c.4434T>C	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	A	10.55	1.380359	0.24944	.	.	ENSG00000197748	ENST00000457071;ENST00000434629	.	.	.	5.4	0.0471	0.14279	.	.	.	.	.	T	0.45418	0.1341	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25572	-1.0128	4	.	.	.	.	4.3542	0.11170	0.5735:0.0:0.1777:0.2488	.	.	.	.	P	327;810	.	.	L	-	2	0	WDR96	105883530	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	1.569000	0.36428	0.017000	0.15025	-0.341000	0.08007	CTC		0.318	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				15	31	0	0	0	0.004007	0	15	31				
ZIM3	114026	broad.mit.edu	37	19	57646307	57646307	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:57646307C>T	ENST00000269834.1	-	5	1783	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAATTCTTTTCTGGTGCCTAA	0.428																																						ENST00000269834.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52						c.(1396-1398)caG>caA		zinc finger, imprinted 3							113.0	112.0	113.0					19																	57646307		2203	4300	6503	SO:0001819	synonymous_variant	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646307C>T	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1398G>A	19.37:g.57646307C>T							p.Q466Q	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1783	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	466					Q14CA6	Silent	SNP	ENST00000269834.1	37	c.1398G>A	CCDS33125.1																																																																																				0.428	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			49	70	0	0	0	0.014410	0	49	70				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	AGAP10_ENST00000355232.3_Splice_Site_p.H157R|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228R			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	4	20	0	0	0	0.001168	0	4	20				
NUP210L	91181	broad.mit.edu	37	1	154034118	154034118	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:154034118C>T	ENST00000368559.3	-	18	2658	c.2587G>A	c.(2587-2589)Ggg>Agg	p.G863R	NUP210L_ENST00000271854.3_Missense_Mutation_p.G863R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	863					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTACAGTCCCTTTTATCTGA	0.338																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(2587-2589)Ggg>Agg		nucleoporin 210kDa-like							76.0	69.0	71.0					1																	154034118		1814	4072	5886	SO:0001583	missense	91181					integral to membrane		g.chr1:154034118C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2587G>A	1.37:g.154034118C>T	ENSP00000357547:p.Gly863Arg					NUP210L_ENST00000271854.3_Missense_Mutation_p.G863R	p.G863R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		18	2658	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		863					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.2587G>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998277	0.74818	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.09723	3.18;2.95	4.53	4.53	0.55603	.	0.000000	0.56097	D	0.000031	T	0.24547	0.0595	M	0.74647	2.275	0.49483	D	0.999793	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00790	-1.1565	10	0.62326	D	0.03	-10.0306	14.6436	0.68742	0.0:1.0:0.0:0.0	.	863;863	E7EP56;Q5VU65	.;P210L_HUMAN	R	863	ENSP00000357547:G863R;ENSP00000271854:G863R	ENSP00000271854:G863R	G	-	1	0	NUP210L	152300742	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.377000	0.59562	2.518000	0.84900	0.650000	0.86243	GGG		0.338	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		27	53	0	0	0	0.013726	0	27	53				
ALG13	79868	broad.mit.edu	37	X	110924494	110924494	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chrX:110924494C>T	ENST00000394780.3	+	1	60	c.48C>T	c.(46-48)ctC>ctT	p.L16L	ALG13_ENST00000251943.4_5'UTR|ALG13_ENST00000371979.3_Silent_p.L16L	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	16	Glycosyltransferase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						TTGACGACCTCATTGCGTGTG	0.632																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(46-48)ctC>ctT		ALG13, UDP-N-acetylglucosaminyltransferase subunit							203.0	158.0	174.0					X																	110924494		2203	4300	6503	SO:0001819	synonymous_variant	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110924494C>T	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.48C>T	X.37:g.110924494C>T						ALG13_ENST00000371979.3_Silent_p.L16L|ALG13_ENST00000251943.4_5'UTR	p.L16L	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			1	60	+			16					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	ENST00000394780.3	37	c.48C>T	CCDS55477.1																																																																																				0.632	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		123	30	0	0	0	0.014410	0	123	30				
FREM2	341640	broad.mit.edu	37	13	39446956	39446956	+	Silent	SNP	G	G	T	rs147947821		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr13:39446956G>T	ENST00000280481.7	+	17	8277	c.8061G>T	c.(8059-8061)ggG>ggT	p.G2687G		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2687					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCCCCGTGGGGGTAGGAGGCT	0.488																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(8059-8061)ggG>ggT		FRAS1 related extracellular matrix protein 2							129.0	125.0	127.0					13																	39446956		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39446956G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8061G>T	13.37:g.39446956G>T							p.G2687G	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	17	8277	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2687					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.8061G>T	CCDS31960.1																																																																																				0.488	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		40	64	1	0	9.8876e-21	0.004878	1.49422e-20	40	64				
PEAK1	79834	broad.mit.edu	37	15	77474169	77474169	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr15:77474169C>T	ENST00000560626.2	-	4	575	c.100G>A	c.(100-102)Gag>Aag	p.E34K	PEAK1_ENST00000312493.4_Missense_Mutation_p.E34K|PEAK1_ENST00000558305.1_Missense_Mutation_p.E34K			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	34					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGTGCCTTCTCAGGGTCTGGG	0.468																																						ENST00000560626.2																			0											c.(100-102)Gag>Aag		pseudopodium-enriched atypical kinase 1							150.0	144.0	146.0					15																	77474169		1892	4100	5992	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77474169C>T		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.100G>A	15.37:g.77474169C>T	ENSP00000452796:p.Glu34Lys					PEAK1_ENST00000312493.4_Missense_Mutation_p.E34K|PEAK1_ENST00000558305.1_Missense_Mutation_p.E34K	p.E34K			Q9H792	PEAK1_HUMAN			4	575	-			34					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.100G>A	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311026	0.60414	.	.	ENSG00000173517	ENST00000312493	T	0.69175	-0.38	6.07	6.07	0.98685	.	0.207024	0.18670	U	0.134468	T	0.55878	0.1948	N	0.22421	0.69	0.39573	D	0.969307	P	0.41597	0.756	B	0.41236	0.351	T	0.58463	-0.7632	10	0.42905	T	0.14	-9.4514	13.793	0.63152	0.0:0.9304:0.0:0.0696	.	34	Q9H792	PEAK1_HUMAN	K	34	ENSP00000309230:E34K	ENSP00000309230:E34K	E	-	1	0	AC087465.1	75261224	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.697000	0.68295	2.890000	0.99128	0.650000	0.86243	GAG		0.468	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			8	182	0	0	0	0.008291	0	8	182				
PCLO	27445	broad.mit.edu	37	7	82582174	82582174	+	Missense_Mutation	SNP	G	G	T	rs551639501		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:82582174G>T	ENST00000333891.9	-	5	8432	c.8095C>A	c.(8095-8097)Cct>Act	p.P2699T	PCLO_ENST00000423517.2_Missense_Mutation_p.P2699T|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTCTGGAGGAATTGTTATG	0.403																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(8095-8097)Cct>Act		piccolo presynaptic cytomatrix protein							65.0	63.0	64.0					7																	82582174		1874	4100	5974	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82582174G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8095C>A	7.37:g.82582174G>T	ENSP00000334319:p.Pro2699Thr					PCLO_ENST00000333891.8_Missense_Mutation_p.P2699T	p.P2699T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	8432	-			2630						Missense_Mutation	SNP	ENST00000333891.9	37	c.8095C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.626088	0.28978	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17854	2.29;2.25	5.36	5.36	0.76844	.	.	.	.	.	T	0.38188	0.1031	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.975	T	0.09292	-1.0681	9	0.87932	D	0	.	18.6866	0.91567	0.0:0.0:1.0:0.0	.	2699;2699	Q9Y6V0-5;Q9Y6V0-6	.;.	T	2630;2699;2699	ENSP00000334319:P2699T;ENSP00000388393:P2699T	ENSP00000334319:P2699T	P	-	1	0	PCLO	82420110	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.744000	0.74854	2.515000	0.84797	0.591000	0.81541	CCT		0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		18	47	1	0	3.32936e-07	0.006122	4.12498e-07	18	47				
PLXNA1	5361	broad.mit.edu	37	3	126736700	126736700	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr3:126736700G>A	ENST00000393409.2	+	18	3625	c.3625G>A	c.(3625-3627)Gag>Aag	p.E1209K	PLXNA1_ENST00000251772.4_Missense_Mutation_p.E1186K	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1209	IPT/TIG 4.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACTGCTGTGCGAGGCGCCCAA	0.662																																						ENST00000393409.2																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(3625-3627)Gag>Aag		plexin A1							70.0	63.0	65.0					3																	126736700		2203	4299	6502	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126736700G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3625G>A	3.37:g.126736700G>A	ENSP00000377061:p.Glu1209Lys					PLXNA1_ENST00000251772.4_Missense_Mutation_p.E1186K	p.E1209K	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	18	3625	+			1209			IPT/TIG 4.			Missense_Mutation	SNP	ENST00000393409.2	37	c.3625G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196947	0.79015	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.76578	-1.03;-1.03	4.49	4.49	0.54785	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.083363	0.49305	D	0.000146	T	0.81394	0.4813	M	0.87682	2.9	0.80722	D	1	B	0.13145	0.007	B	0.21151	0.033	T	0.80274	-0.1451	10	0.40728	T	0.16	.	17.3544	0.87331	0.0:0.0:1.0:0.0	.	1209	Q9UIW2	PLXA1_HUMAN	K	1209;1186	ENSP00000377061:E1209K;ENSP00000251772:E1186K	ENSP00000251772:E1186K	E	+	1	0	PLXNA1	128219390	1.000000	0.71417	0.998000	0.56505	0.841000	0.47740	9.621000	0.98376	2.316000	0.78162	0.591000	0.81541	GAG		0.662	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		22	71	0	0	0	0.002780	0	22	71				
FAM135B	51059	broad.mit.edu	37	8	139151251	139151251	+	Silent	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:139151251G>C	ENST00000395297.1	-	18	4049	c.3879C>G	c.(3877-3879)ctC>ctG	p.L1293L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1293										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTAGTTGGTAGAGGAAACATT	0.448										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(3877-3879)ctC>ctG		family with sequence similarity 135, member B							129.0	123.0	125.0					8																	139151251		1878	4120	5998	SO:0001819	synonymous_variant	51059							g.chr8:139151251G>C	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3879C>G	8.37:g.139151251G>C		HNSCC(54;0.14)					p.L1293L	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		18	4049	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1293					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.3879C>G	CCDS6375.2																																																																																				0.448	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		12	127	0	0	0	0.013537	0	12	127				
BIRC6	57448	broad.mit.edu	37	2	32728276	32728276	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:32728276G>A	ENST00000421745.2	+	49	9606	c.9472G>A	c.(9472-9474)Gaa>Aaa	p.E3158K		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3158					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGACAATGCTGAAGGGATTCA	0.338																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(9472-9474)Gaa>Aaa		baculoviral IAP repeat containing 6							82.0	81.0	81.0					2																	32728276		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32728276G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.9472G>A	2.37:g.32728276G>A	ENSP00000393596:p.Glu3158Lys						p.E3158K	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			49	9606	+	Acute lymphoblastic leukemia(172;0.155)		3158					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.9472G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896191	0.91962	.	.	ENSG00000115760	ENST00000421745	T	0.75589	-0.95	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84777	0.5547	L	0.53249	1.67	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.83792	0.0231	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	3158	Q9NR09	BIRC6_HUMAN	K	3158	ENSP00000393596:E3158K	ENSP00000393596:E3158K	E	+	1	0	BIRC6	32581780	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAA		0.338	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		7	17	0	0	0	0.004482	0	7	17				
STIL	6491	broad.mit.edu	37	1	47717390	47717390	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:47717390G>A	ENST00000360380.3	-	18	3645	c.3282C>T	c.(3280-3282)agC>agT	p.S1094S	STIL_ENST00000243182.6_Silent_p.S1094S|STIL_ENST00000396221.2_Silent_p.S1077S|STIL_ENST00000371877.3_Silent_p.S1095S|STIL_ENST00000337817.5_Silent_p.S1094S	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1094					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TATGGAGAAGGCTGAATGGGT	0.373																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(3280-3282)agC>agT		SCL/TAL1 interrupting locus							154.0	160.0	158.0					1																	47717390		2203	4300	6503	SO:0001819	synonymous_variant	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47717390G>A	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.3282C>T	1.37:g.47717390G>A						STIL_ENST00000337817.5_Silent_p.S1094S|STIL_ENST00000396221.2_Silent_p.S1077S|STIL_ENST00000243182.6_Silent_p.S1094S|STIL_ENST00000371877.3_Silent_p.S1095S	p.S1094S			Q15468	STIL_HUMAN			18	3645	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	1094					Q5T0C5|Q68CN9	Silent	SNP	ENST00000360380.3	37	c.3282C>T	CCDS548.1																																																																																				0.373	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		69	42	0	0	0	0.014410	0	69	42				
IGKV1D-16	28901	broad.mit.edu	37	2	90139424	90139424	+	RNA	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:90139424C>A	ENST00000492446.1	+	0	222									immunoglobulin kappa variable 1D-16																		CAGAGAAAGCCCCTAAGTCCC	0.522																																						ENST00000492446.1																			0																				159.0	166.0	164.0					2																	90139424		1927	4147	6074			28901							g.chr2:90139424C>A	K01323		2p11.2	2012-02-08			ENSG00000241244	ENSG00000241244		"""Immunoglobulins / IGK locus"""	5748	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151569		2.37:g.90139424C>A														0	222	+									RNA	SNP	ENST00000492446.1	37																																																																																						0.522	IGKV1D-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323144.2	NG_000833		103	218	1	0	3.52173e-36	0.014410	5.78937e-36	103	218				
TCEANC2	127428	broad.mit.edu	37	1	54562036	54562036	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:54562036C>T	ENST00000234827.1	+	5	717	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	TCEANC2_ENST00000371331.1_Missense_Mutation_p.R203W|TCEANC2_ENST00000498272.1_3'UTR	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	173	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|lung(3)|pancreas(1)	5						GCCGTACCGGCGGACGGTGAG	0.512																																						ENST00000234827.1																			0				kidney(1)|lung(3)|pancreas(1)	5						c.(517-519)Cgg>Tgg		transcription elongation factor A (SII) N-terminal and central domain containing 2							61.0	70.0	67.0					1																	54562036		2203	4300	6503	SO:0001583	missense	127428				transcription, DNA-dependent	nucleus	DNA binding	g.chr1:54562036C>T	AK056674	CCDS587.1	1p32.3	2011-01-25	2011-01-25	2011-01-25	ENSG00000116205	ENSG00000116205			26494	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 83"""	C1orf83		12477932	Standard	NM_153035		Approved	FLJ32112	uc001cwt.1	Q96MN5	OTTHUMG00000008434	ENST00000234827.1:c.517C>T	1.37:g.54562036C>T	ENSP00000234827:p.Arg173Trp					TCEANC2_ENST00000498272.1_3'UTR|TCEANC2_ENST00000371331.1_Missense_Mutation_p.R203W	p.R173W	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN			5	717	+			173			TFIIS central.		Q5T702|Q8N8N2	Missense_Mutation	SNP	ENST00000234827.1	37	c.517C>T	CCDS587.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988765	0.53934	.	.	ENSG00000116205	ENST00000234827;ENST00000371331	T;T	0.44083	0.93;0.93	5.34	3.39	0.38822	Transcription elongation factor S-II, central domain (3);	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	M	0.72118	2.19	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.66642	-0.5872	10	0.87932	D	0	-7.642	14.5874	0.68335	0.573:0.427:0.0:0.0	.	173	Q96MN5	TEAN2_HUMAN	W	173;203	ENSP00000234827:R173W;ENSP00000360382:R203W	ENSP00000234827:R173W	R	+	1	2	TCEANC2	54334624	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.318000	0.43779	0.578000	0.29487	0.563000	0.77884	CGG		0.512	TCEANC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023245.1	NM_153035		38	20	0	0	0	0.004878	0	38	20				
BAAT	570	broad.mit.edu	37	9	104133542	104133542	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr9:104133542G>A	ENST00000395051.3	-	1	215	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	BAAT_ENST00000259407.2_Missense_Mutation_p.H49Y			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	49					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GCCCTATAGTGGGCTTGAGAA	0.488																																						ENST00000259407.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.(145-147)Cac>Tac		bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	Glycine(DB00145)						109.0	103.0	105.0					9																	104133542		2203	4300	6503	SO:0001583	missense	570				acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity	g.chr9:104133542G>A	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.145C>T	9.37:g.104133542G>A	ENSP00000378491:p.His49Tyr					BAAT_ENST00000395051.3_Missense_Mutation_p.H49Y	p.H49Y	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN			2	253	-		Acute lymphoblastic leukemia(62;0.0559)	49					Q3B7W9|Q96L31	Missense_Mutation	SNP	ENST00000395051.3	37	c.145C>T	CCDS6752.1	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.299561	0.01364	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.70516	-0.49;-0.49	4.41	-1.08	0.09936	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	1.489440	0.03997	N	0.295773	T	0.47021	0.1423	N	0.20483	0.58	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23190	-1.0195	10	0.07175	T	0.84	-2.7005	1.1186	0.01720	0.5111:0.1535:0.1866:0.1488	.	49	Q14032	BAAT_HUMAN	Y	49	ENSP00000259407:H49Y;ENSP00000378491:H49Y	ENSP00000259407:H49Y	H	-	1	0	BAAT	103173363	0.000000	0.05858	0.099000	0.21106	0.978000	0.69477	-0.033000	0.12246	-0.037000	0.13646	-0.302000	0.09304	CAC		0.488	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1			33	68	0	0	0	0.010818	0	33	68				
ZNF521	25925	broad.mit.edu	37	18	22804737	22804737	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr18:22804737C>A	ENST00000361524.3	-	4	3293	c.3145G>T	c.(3145-3147)Ggg>Tgg	p.G1049W	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.G1049W|ZNF521_ENST00000584787.1_Missense_Mutation_p.G829W	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1049					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ACTGCAGACCCATTCCCTGTC	0.522			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(3145-3147)Ggg>Tgg		zinc finger protein 521							77.0	60.0	66.0					18																	22804737		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804737C>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3145G>T	18.37:g.22804737C>A	ENSP00000354794:p.Gly1049Trp					ZNF521_ENST00000584787.1_Missense_Mutation_p.G829W|ZNF521_ENST00000538137.2_Missense_Mutation_p.G1049W	p.G1049W	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	3293	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1049					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.3145G>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	7.547	0.661839	0.14645	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09163	3.01;3.02	5.98	5.98	0.97165	.	0.321098	0.34628	N	0.003806	T	0.12561	0.0305	N	0.24115	0.695	0.32258	N	0.570531	P	0.42456	0.78	P	0.47206	0.541	T	0.02244	-1.1189	10	0.87932	D	0	-17.9379	12.8817	0.58020	0.0:0.926:0.0:0.074	.	1049	Q96K83	ZN521_HUMAN	W	1049;1083;1049	ENSP00000354794:G1049W;ENSP00000382352:G1049W	ENSP00000354794:G1049W	G	-	1	0	ZNF521	21058735	0.995000	0.38212	0.898000	0.35279	0.993000	0.82548	2.597000	0.46214	2.835000	0.97688	0.650000	0.86243	GGG		0.522	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		19	20	1	0	8.00594e-06	0.007413	9.70504e-06	19	20				
NSMF	26012	broad.mit.edu	37	9	140346851	140346851	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr9:140346851C>G	ENST00000371475.3	-	12	1433	c.1202G>C	c.(1201-1203)gGa>gCa	p.G401A	NSMF_ENST00000541195.1_Missense_Mutation_p.G198A|NSMF_ENST00000371473.3_Missense_Mutation_p.G371A|NSMF_ENST00000484316.1_5'UTR|NSMF_ENST00000392812.4_Missense_Mutation_p.G378A|NSMF_ENST00000265663.7_Missense_Mutation_p.G399A|NSMF_ENST00000371482.1_Missense_Mutation_p.G65A|NSMF_ENST00000371474.3_Missense_Mutation_p.G376A|NSMF_ENST00000339554.3_Missense_Mutation_p.G198A|NSMF_ENST00000371472.2_Missense_Mutation_p.G399A|NSMF_ENST00000437259.1_Missense_Mutation_p.G378A	NM_001130969.1	NP_001124441.1	Q6X4W1	NSMF_HUMAN	NMDA receptor synaptonuclear signaling and neuronal migration factor	401					cellular response to amino acid stimulus (GO:0071230)|cellular response to electrical stimulus (GO:0071257)|cellular response to gonadotropin stimulus (GO:0071371)|positive regulation of neuron migration (GO:2001224)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuronal synaptic plasticity (GO:0048168)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuron projection (GO:0043005)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium-dependent protein binding (GO:0048306)										GATCTTGGCTCCCTTGTGGTA	0.617																																						ENST00000371475.3																			0											c.(1201-1203)gGa>gCa		NMDA receptor synaptonuclear signaling and neuronal migration factor							187.0	168.0	174.0					9																	140346851		2200	4298	6498	SO:0001583	missense	26012							g.chr9:140346851C>G		CCDS7044.1, CCDS48067.1, CCDS48068.1, CCDS48069.1, CCDS55357.1	9q34.3	2013-01-14	2013-01-14	2013-01-14	ENSG00000165802	ENSG00000165802			29843	protein-coding gene	gene with protein product		608137	"""nasal embryonic LHRH factor"""	NELF		11230166, 10898796	Standard	NM_015537		Approved		uc004cna.3	Q6X4W1	OTTHUMG00000020989	ENST00000371475.3:c.1202G>C	9.37:g.140346851C>G	ENSP00000360530:p.Gly401Ala					NSMF_ENST00000541195.1_Missense_Mutation_p.G198A|NSMF_ENST00000265663.7_Missense_Mutation_p.G399A|NSMF_ENST00000392812.4_Missense_Mutation_p.G378A|NSMF_ENST00000371482.1_Missense_Mutation_p.G65A|NSMF_ENST00000437259.1_Missense_Mutation_p.G378A|NSMF_ENST00000371474.3_Missense_Mutation_p.G376A|NSMF_ENST00000371473.3_Missense_Mutation_p.G371A|NSMF_ENST00000339554.3_Missense_Mutation_p.G198A|NSMF_ENST00000371472.2_Missense_Mutation_p.G399A|NSMF_ENST00000484316.1_5'UTR	p.G401A	NM_001130969.1	NP_001124441.1					12	1433	-								Q2TB96|Q6X4V7|Q6X4V8|Q6X4V9|Q8N2M2|Q96SY1|Q9NPM4|Q9NPP3|Q9NPS3	Missense_Mutation	SNP	ENST00000371475.3	37	c.1202G>C	CCDS48069.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770886	0.90108	.	.	ENSG00000165802	ENST00000339554;ENST00000371475;ENST00000265663;ENST00000437259;ENST00000392812;ENST00000371474;ENST00000371473;ENST00000371482;ENST00000371472;ENST00000541195	T;T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.997;0.999;0.999;0.997;0.998;0.996;0.996	T	0.64110	-0.6484	10	0.87932	D	0	-9.3929	15.0992	0.72258	0.0:1.0:0.0:0.0	.	378;198;152;376;371;401;399	Q6X4W1-3;F5GZW0;Q9NTU2;Q2TB96;Q6X4W1-4;Q6X4W1;Q6X4W1-2	.;.;.;.;.;NELF_HUMAN;.	A	198;401;399;378;378;376;371;65;399;198	ENSP00000342966:G198A;ENSP00000360530:G401A;ENSP00000265663:G399A;ENSP00000412007:G378A;ENSP00000376559:G378A;ENSP00000360529:G376A;ENSP00000360528:G371A;ENSP00000360537:G65A;ENSP00000360527:G399A;ENSP00000444177:G198A	ENSP00000265663:G399A	G	-	2	0	NELF	139466672	1.000000	0.71417	0.999000	0.59377	0.841000	0.47740	5.615000	0.67702	2.434000	0.82447	0.455000	0.32223	GGA		0.617	NSMF-204	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015537		59	121	0	0	0	0.014410	0	59	121				
PPAN	56342	broad.mit.edu	37	19	10221511	10221511	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:10221511C>T	ENST00000253107.7	+	11	1276	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	P2RY11_ENST00000321826.4_5'Flank|PPAN_ENST00000556468.1_Silent_p.F390F|PPAN-P2RY11_ENST00000428358.1_Silent_p.F390F|SNORD105B_ENST00000458770.1_RNA|PPAN-P2RY11_ENST00000393796.4_Silent_p.F390F|PPAN_ENST00000393793.1_Silent_p.F337F	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	390					RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TCGAGTATTTCTGCCAGGCGG	0.607																																						ENST00000428358.1																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(1168-1170)ttC>ttT									105.0	116.0	113.0					19																	10221511		2203	4300	6503	SO:0001819	synonymous_variant	692312				RNA splicing	nucleolus	protein binding	g.chr19:10221511C>T	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.1170C>T	19.37:g.10221511C>T						PPAN_ENST00000393793.1_Silent_p.F337F|PPAN_ENST00000253107.7_Silent_p.F390F|PPAN-P2RY11_ENST00000393796.4_Silent_p.F390F|PPAN_ENST00000556468.1_Silent_p.F390F	p.F390F	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		11	1342	+			390					C9J3F9|Q9BW97|Q9H170	Silent	SNP	ENST00000253107.7	37	c.1170C>T	CCDS12225.1																																																																																				0.607	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230		67	140	0	0	0	0.014410	0	67	140				
CYP4F22	126410	broad.mit.edu	37	19	15651373	15651373	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:15651373C>T	ENST00000269703.3	+	8	983	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R262W	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	262						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GGCGGATGGGCGGAGGTTCCG	0.607																																						ENST00000269703.2																			0				endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						c.(784-786)Cgg>Tgg		cytochrome P450, family 4, subfamily F, polypeptide 22							71.0	67.0	68.0					19																	15651373		2203	4300	6503	SO:0001583	missense	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15651373C>T		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.784C>T	19.37:g.15651373C>T	ENSP00000269703:p.Arg262Trp					CYP4F22_ENST00000601005.2_Missense_Mutation_p.R262W	p.R262W	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN			8	983	+			262					Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	37	c.784C>T	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920442	0.33908	.	.	ENSG00000171954	ENST00000269703	T	0.72167	-0.63	5.39	4.34	0.51931	.	0.115971	0.52532	D	0.000063	T	0.67711	0.2922	L	0.59967	1.855	0.50171	D	0.999851	P	0.38565	0.637	B	0.40444	0.329	T	0.68002	-0.5524	10	0.46703	T	0.11	.	11.3666	0.49675	0.3271:0.6729:0.0:0.0	.	262	Q6NT55	CP4FN_HUMAN	W	262	ENSP00000269703:R262W	ENSP00000269703:R262W	R	+	1	2	CYP4F22	15512373	0.975000	0.34042	1.000000	0.80357	0.220000	0.24768	0.799000	0.27028	1.244000	0.43870	0.453000	0.30009	CGG		0.607	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		29	90	0	0	0	0.007291	0	29	90				
ARHGAP15	55843	broad.mit.edu	37	2	143913203	143913203	+	Silent	SNP	T	T	C	rs146989390	byFrequency	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:143913203T>C	ENST00000295095.6	+	2	311	c.144T>C	c.(142-144)gaT>gaC	p.D48D	ARHGAP15_ENST00000409869.1_Silent_p.D48D	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	48					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TCCTCACCGATGTCGGGAAGG	0.423													T|||	3	0.000599042	0.0	0.0	5008	,	,		18099	0.003		0.0	False		,,,				2504	0.0					ENST00000409869.1																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(142-144)gaT>gaC		Rho GTPase activating protein 15							107.0	96.0	100.0					2																	143913203		2203	4300	6503	SO:0001819	synonymous_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143913203T>C	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.144T>C	2.37:g.143913203T>C						ARHGAP15_ENST00000295095.6_Silent_p.D48D	p.D48D			Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	3	321	+			48					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Silent	SNP	ENST00000295095.6	37	c.144T>C	CCDS2184.1																																																																																				0.423	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		26	23	0	0	0	0.007291	0	26	23				
CCDC132	55610	broad.mit.edu	37	7	92887685	92887685	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:92887685G>T	ENST00000305866.5	+	8	685	c.557G>T	c.(556-558)cGg>cTg	p.R186L	CCDC132_ENST00000544910.1_Missense_Mutation_p.R156L|CCDC132_ENST00000251739.5_Missense_Mutation_p.R186L|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	186						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ACAGATGTACGGTTAAGTGAA	0.299																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(466-468)cGg>cTg		coiled-coil domain containing 132							115.0	120.0	119.0					7																	92887685		2203	4300	6503	SO:0001583	missense	55610							g.chr7:92887685G>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.557G>T	7.37:g.92887685G>T	ENSP00000307666:p.Arg186Leu					CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000251739.5_Missense_Mutation_p.R186L|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000305866.5_Missense_Mutation_p.R186L	p.R156L	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		9	687	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		186					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.467G>T	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692230	0.88735	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000458530	.	.	.	5.5	4.61	0.57282	Vacuolar protein sorting-associated protein 54 (1);	0.000000	0.85682	D	0.000000	T	0.77791	0.4183	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	0.991;0.997;1.0	P;D;D	0.81914	0.885;0.995;0.981	T	0.79690	-0.1698	9	0.51188	T	0.08	8.6968	16.0506	0.80760	0.0:0.0:0.8647:0.1353	.	156;186;186	F5H5U7;Q96JG6;Q96JG6-2	.;CC132_HUMAN;.	L	186;186;156;185	.	ENSP00000251739:R186L	R	+	2	0	CCDC132	92725621	1.000000	0.71417	0.992000	0.48379	0.942000	0.58702	9.869000	0.99810	1.449000	0.47699	0.585000	0.79938	CGG		0.299	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		20	52	1	0	3.5997e-14	0.014323	4.99218e-14	20	52				
PCDHGB7	56099	broad.mit.edu	37	5	140797510	140797510	+	Silent	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:140797510G>T	ENST00000398594.2	+	1	84	c.84G>T	c.(82-84)acG>acT	p.T28T	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	28					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTACCCCACGCTGTGTGAGC	0.632											OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(82-84)acG>acT									41.0	43.0	43.0					5																	140797510		1924	4125	6049	SO:0001819	synonymous_variant	56099							g.chr5:140797510G>T	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.84G>T	5.37:g.140797510G>T			OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	p.T28T	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	84	+								Q9UN63	Silent	SNP	ENST00000398594.2	37	c.84G>T	CCDS47293.1																																																																																				0.632	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		13	23	1	0	5.50884e-06	0.013537	6.70209e-06	13	23				
CSMD3	114788	broad.mit.edu	37	8	113246662	113246662	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:113246662G>T	ENST00000297405.5	-	68	10916	c.10672C>A	c.(10672-10674)Ctt>Att	p.L3558I	CSMD3_ENST00000455883.2_Missense_Mutation_p.L3389I|CSMD3_ENST00000352409.3_Missense_Mutation_p.L3488I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L3518I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3558						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTTTAATAAGATATATGCGT	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10672-10674)Ctt>Att		CUB and Sushi multiple domains 3							161.0	160.0	160.0					8																	113246662		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113246662G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10672C>A	8.37:g.113246662G>T	ENSP00000297405:p.Leu3558Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.L3389I|CSMD3_ENST00000352409.3_Missense_Mutation_p.L3488I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L3518I	p.L3558I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			68	10916	-			3558					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10672C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.489247	0.44249	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.24350	2.17;2.17;2.18;1.86;2.18	5.16	3.38	0.38709	.	0.215392	0.33092	N	0.005299	T	0.11410	0.0278	N	0.08118	0	0.27305	N	0.957471	B;B;B	0.29805	0.216;0.059;0.257	B;B;B	0.28916	0.079;0.022;0.096	T	0.23119	-1.0197	10	0.22109	T	0.4	.	7.9132	0.29803	0.3091:0.0:0.6909:0.0	.	3389;3558;3518	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	3518;3558;2828;3389;3488	ENSP00000345799:L3518I;ENSP00000297405:L3558I;ENSP00000341558:L2828I;ENSP00000412263:L3389I;ENSP00000343124:L3488I	ENSP00000297405:L3558I	L	-	1	0	CSMD3	113315838	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.092000	0.41700	0.766000	0.33244	0.655000	0.94253	CTT		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		50	95	1	0	1.4374e-25	0.014410	2.23227e-25	50	95				
RYR2	6262	broad.mit.edu	37	1	237865319	237865319	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:237865319T>A	ENST00000366574.2	+	66	9726	c.9409T>A	c.(9409-9411)Tta>Ata	p.L3137I	RYR2_ENST00000360064.6_Missense_Mutation_p.L3135I|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.L3121I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3137					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTGACTAGCTTATATGCTTT	0.328																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(9409-9411)Tta>Ata		ryanodine receptor 2 (cardiac)							133.0	120.0	124.0					1																	237865319		1814	4078	5892	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237865319T>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9409T>A	1.37:g.237865319T>A	ENSP00000355533:p.Leu3137Ile					RYR2_ENST00000360064.6_Missense_Mutation_p.L3135I|RYR2_ENST00000542537.1_Missense_Mutation_p.L3121I	p.L3137I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		66	9726	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3137					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.9409T>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.408729	0.62399	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288;ENST00000540213	T;T;T	0.71698	-0.59;1.46;-0.59	4.83	4.83	0.62350	.	0.000000	0.46758	U	0.000270	T	0.46541	0.1398	N	0.11427	0.14	0.80722	D	1	B	0.31599	0.33	B	0.22601	0.04	T	0.47947	-0.9077	10	0.33940	T	0.23	.	9.2856	0.37755	0.0:0.0819:0.0:0.9181	.	3137	Q92736	RYR2_HUMAN	I	3137;3135;3121;92;132	ENSP00000355533:L3137I;ENSP00000353174:L3135I;ENSP00000443798:L3121I	ENSP00000353174:L3135I	L	+	1	2	RYR2	235931942	0.728000	0.28080	1.000000	0.80357	0.984000	0.73092	1.020000	0.30027	1.920000	0.55613	0.467000	0.42956	TTA		0.328	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		32	16	0	0	0	0.004289	0	32	16				
MBTPS2	51360	broad.mit.edu	37	X	21869684	21869684	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chrX:21869684A>T	ENST00000379484.5	+	4	595	c.496A>T	c.(496-498)Att>Ttt	p.I166F	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Missense_Mutation_p.I166F	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	166					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GGCAGTTCTCATTAGTGGTGT	0.373																																						ENST00000365779.2																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						c.(496-498)Att>Ttt		membrane-bound transcription factor peptidase, site 2							224.0	202.0	209.0					X																	21869684		2203	4300	6503	SO:0001583	missense	51360				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	g.chrX:21869684A>T	AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.496A>T	X.37:g.21869684A>T	ENSP00000368798:p.Ile166Phe					MBTPS2_ENST00000379484.5_Missense_Mutation_p.I166F|MBTPS2_ENST00000465888.1_3'UTR	p.I166F			O43462	MBTP2_HUMAN			4	577	+			166					Q9UM70|Q9UMD3	Missense_Mutation	SNP	ENST00000379484.5	37	c.496A>T	CCDS14201.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548062	0.65311	.	.	ENSG00000012174	ENST00000379484;ENST00000365779	D;D	0.93811	-3.29;-3.29	5.17	4.01	0.46588	Peptidase M50 (1);	0.219065	0.47455	D	0.000223	D	0.94262	0.8157	L	0.58583	1.82	0.52099	D	0.999943	D;D;P	0.61080	0.967;0.989;0.86	P;P;P	0.60012	0.867;0.814;0.516	D	0.92823	0.6274	10	0.48119	T	0.1	-16.2951	10.2271	0.43231	0.9214:0.0:0.0786:0.0	.	166;166;166	A8KA68;O43462;B9ZVQ3	.;MBTP2_HUMAN;.	F	166	ENSP00000368798:I166F;ENSP00000368796:I166F	ENSP00000368796:I166F	I	+	1	0	MBTPS2	21779605	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.425000	0.52771	0.781000	0.33589	-0.466000	0.05196	ATT		0.373	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			5	78	0	0	0	0.001168	0	5	78				
NPY4R	5540	broad.mit.edu	37	10	47087602	47087602	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr10:47087602C>A	ENST00000395716.1	+	2	904	c.819C>A	c.(817-819)gcC>gcA	p.A273A	NPY4R_ENST00000374312.1_Silent_p.A273A			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	273					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										TGGTGGTGGCCTTTGCTGTGC	0.587																																						ENST00000374312.1																			0											c.(817-819)gcC>gcA		neuropeptide Y receptor Y4							156.0	111.0	126.0					10																	47087602		2203	4300	6503	SO:0001819	synonymous_variant	5540							g.chr10:47087602C>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.819C>A	10.37:g.47087602C>A						NPY4R_ENST00000395716.1_Silent_p.A273A	p.A273A	NM_005972.4	NP_005963.3					3	1238	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.819C>A	CCDS31193.1																																																																																				0.587	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			20	87	1	0	3.99206e-14	0.007413	5.49112e-14	20	87				
HCRTR2	3062	broad.mit.edu	37	6	55113511	55113511	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:55113511G>T	ENST00000370862.3	+	2	634	c.298G>T	c.(298-300)Gat>Tat	p.D100Y		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	100					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTCTCTGGCTGATGTGCTCGT	0.453																																						ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(298-300)Gat>Tat		hypocretin (orexin) receptor 2							237.0	212.0	220.0					6																	55113511		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55113511G>T	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.298G>T	6.37:g.55113511G>T	ENSP00000359899:p.Asp100Tyr						p.D100Y	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	634	+	Lung NSC(77;0.107)|Renal(3;0.122)		100					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.298G>T	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357506	0.82243	.	.	ENSG00000137252	ENST00000370862	D	0.88896	-2.44	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96710	0.8926	H	0.98048	4.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98393	1.0564	10	0.87932	D	0	.	18.2553	0.90017	0.0:0.0:1.0:0.0	.	100;100	Q548Y0;O43614	.;OX2R_HUMAN	Y	100	ENSP00000359899:D100Y	ENSP00000359899:D100Y	D	+	1	0	HCRTR2	55221470	1.000000	0.71417	0.869000	0.34112	0.887000	0.51463	9.420000	0.97426	2.373000	0.80994	0.650000	0.86243	GAT		0.453	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			56	102	1	0	6.4308e-24	0.014410	9.8958e-24	56	102				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	79	0	0	0	0.000602	0	4	79				
C12orf43	64897	broad.mit.edu	37	12	121438953	121438953	+	IGR	SNP	C	C	A	rs193922591		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr12:121438953C>A	ENST00000288757.3	-	0	1920				HNF1A_ENST00000257555.6_Silent_p.I618I|HNF1A_ENST00000544413.1_Silent_p.I625I|HNF1A_ENST00000541395.1_Silent_p.I649I|RP11-216P16.2_ENST00000606238.1_RNA	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43											cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACAGCGTCATCGAGACCTTCA	0.617																																						ENST00000257555.6																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	GRCh37	CM993818	HNF1A	M		c.(1852-1854)atC>atA		HNF1 homeobox A							102.0	77.0	85.0					12																	121438953		2203	4300	6503	SO:0001628	intergenic_variant	6927	Hepatic Adenoma, Familial Clustering of			glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121438953C>A	AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150		12.37:g.121438953C>A						RP11-216P16.2_ENST00000606238.1_RNA|HNF1A_ENST00000541395.1_Silent_p.I649I|HNF1A_ENST00000544413.1_Silent_p.I625I	p.I618I			P20823	HNF1A_HUMAN			10	2080	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		618		I -> M (in MODY3).			Q53HF0|Q9H9Z7	Silent	SNP	ENST00000288757.3	37	c.1854C>A	CCDS9210.1																																																																																				0.617	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022895		10	5	1	0	1.58986e-06	0.008291	1.94831e-06	10	5				
DOCK3	1795	broad.mit.edu	37	3	51400017	51400017	+	Silent	SNP	G	G	A	rs369636952		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr3:51400017G>A	ENST00000266037.9	+	49	5228	c.5205G>A	c.(5203-5205)tcG>tcA	p.S1735S		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1735	Ser-rich.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTCTGTCCTCGTCCCAGGCAA	0.557																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(5203-5205)tcG>tcA		dedicator of cytokinesis 3		G		0,4214		0,0,2107	100.0	108.0	105.0		5205	2.1	1.0	3		105	1,8443		0,1,4221	no	coding-synonymous	DOCK3	NM_004947.4		0,1,6328	AA,AG,GG		0.0118,0.0,0.0079		1735/2031	51400017	1,12657	2107	4222	6329	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51400017G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5205G>A	3.37:g.51400017G>A							p.S1735S	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	49	5228	+			1735			Ser-rich.		O15017	Silent	SNP	ENST00000266037.9	37	c.5205G>A	CCDS46835.1																																																																																				0.557	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		32	18	0	0	0	0.010818	0	32	18				
APC	324	broad.mit.edu	37	5	112151205	112151205	+	Missense_Mutation	SNP	G	G	A	rs149154604		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:112151205G>A	ENST00000457016.1	+	9	1228	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	APC_ENST00000508376.2_Missense_Mutation_p.R283Q|APC_ENST00000257430.4_Missense_Mutation_p.R283Q			P25054	APC_HUMAN	adenomatous polyposis coli	283	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCAACTACACGAATGGACCAT	0.383		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		0				NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(847-849)cGa>cAa		adenomatous polyposis coli							113.0	102.0	106.0					5																	112151205		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112151205G>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.848G>A	5.37:g.112151205G>A	ENSP00000413133:p.Arg283Gln	TSP Lung(16;0.13)				APC_ENST00000508376.2_Missense_Mutation_p.R283Q|APC_ENST00000257430.4_Missense_Mutation_p.R283Q	p.R283Q			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	9	1228	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	283			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.848G>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.074058	0.55646	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.93307	-2.58;-3.2;-2.58;-2.58;-2.76	5.11	4.22	0.49857	.	0.134048	0.50627	D	0.000103	D	0.87803	0.6269	L	0.28192	0.835	0.43199	D	0.995046	B;B	0.20052	0.041;0.024	B;B	0.08055	0.003;0.003	D	0.84106	0.0398	10	0.35671	T	0.21	-10.044	14.4736	0.67533	0.0747:0.0:0.9253:0.0	.	285;283	Q4LE70;P25054	.;APC_HUMAN	Q	283;265;283;283;283	ENSP00000413133:R283Q;ENSP00000423224:R265Q;ENSP00000257430:R283Q;ENSP00000427089:R283Q;ENSP00000423828:R283Q	ENSP00000257430:R283Q	R	+	2	0	APC	112179104	1.000000	0.71417	0.975000	0.42487	0.981000	0.71138	5.844000	0.69430	2.520000	0.84964	0.650000	0.86243	CGA		0.383	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		17	31	0	0	0	0.008871	0	17	31				
PCDHGB3	56102	broad.mit.edu	37	5	140751081	140751081	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:140751081C>A	ENST00000576222.1	+	1	1251	c.1120C>A	c.(1120-1122)Cta>Ata	p.L374I	PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	374	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACACATGATCTAGATTCTGG	0.423																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1120-1122)Cta>Ata									45.0	45.0	45.0					5																	140751081		1918	4124	6042	SO:0001583	missense	56102							g.chr5:140751081C>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1120C>A	5.37:g.140751081C>A	ENSP00000461862:p.Leu374Ile					PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.L374I	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1251	+								A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1120C>A	CCDS58980.1																																																																																				0.423	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		7	24	1	0	0.00198382	0.001984	0.00233758	7	24				
PKHD1L1	93035	broad.mit.edu	37	8	110476802	110476802	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:110476802C>A	ENST00000378402.5	+	49	7845	c.7741C>A	c.(7741-7743)Cac>Aac	p.H2581N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2581					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGTGGCACTCACTTTGGCTT	0.463										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(7741-7743)Cac>Aac		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							101.0	101.0	101.0					8																	110476802		2032	4198	6230	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110476802C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7741C>A	8.37:g.110476802C>A	ENSP00000367655:p.His2581Asn	HNSCC(38;0.096)					p.H2581N	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	7845	+			2581					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.7741C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040371	0.75732	.	.	ENSG00000205038	ENST00000378402	T	0.78364	-1.17	5.55	5.55	0.83447	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	D	0.86406	0.5925	M	0.70595	2.14	0.44685	D	0.997678	D	0.54964	0.969	P	0.62491	0.903	D	0.87313	0.2313	10	0.66056	D	0.02	.	16.9905	0.86352	0.0:1.0:0.0:0.0	.	2581	Q86WI1	PKHL1_HUMAN	N	2581	ENSP00000367655:H2581N	ENSP00000367655:H2581N	H	+	1	0	PKHD1L1	110545978	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	6.471000	0.73562	2.610000	0.88304	0.655000	0.94253	CAC		0.463	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		24	35	1	0	2.21704e-12	0.002780	2.98856e-12	24	35				
TP53	7157	broad.mit.edu	37	17	7577557	7577557	+	Missense_Mutation	SNP	A	A	T	rs397516437		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr17:7577557A>T	ENST00000269305.4	-	7	913	c.724T>A	c.(724-726)Tgc>Agc	p.C242S	TP53_ENST00000445888.2_Missense_Mutation_p.C242S|TP53_ENST00000359597.4_Missense_Mutation_p.C242S|TP53_ENST00000413465.2_Missense_Mutation_p.C242S|TP53_ENST00000455263.2_Missense_Mutation_p.C242S|TP53_ENST00000420246.2_Missense_Mutation_p.C242S|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	242	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:16959974}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C242R(12)|p.C242S(10)|p.0?(8)|p.?(5)|p.N239_C242delNSSC(3)|p.C242G(2)|p.S241del(2)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.C242fs*5(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCGCCCATGCAGGAACTGTTA	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		55	Substitution - Missense(24)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex - deletion inframe(1)	p.C242R(12)|p.C242S(10)|p.0?(8)|p.?(5)|p.N239_C242delNSSC(3)|p.C242G(2)|p.S241del(2)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.C242fs*5(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)	breast(8)|large_intestine(7)|biliary_tract(5)|upper_aerodigestive_tract(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|liver(3)|ovary(3)|pancreas(3)|prostate(3)|stomach(2)|oesophagus(2)|lung(2)|urinary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(724-726)Tgc>Agc	Other conserved DNA damage response genes	tumor protein p53							138.0	106.0	117.0					17																	7577557		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577557A>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.724T>A	17.37:g.7577557A>T	ENSP00000269305:p.Cys242Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.C242S|TP53_ENST00000455263.2_Missense_Mutation_p.C242S|TP53_ENST00000269305.4_Missense_Mutation_p.C242S|TP53_ENST00000413465.2_Missense_Mutation_p.C242S|TP53_ENST00000359597.4_Missense_Mutation_p.C242S	p.C242S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	856	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	242		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.724T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.639501	0.87760	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99914	-7.98;-7.98;-7.98;-7.98;-7.98;-7.98;-7.98;-7.98	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99924	0.9965	M	0.92784	3.345	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.999	D	0.95737	0.8780	10	0.87932	D	0	-27.558	12.3101	0.54924	1.0:0.0:0.0:0.0	.	242;242;149;242;242;242	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	242;242;242;242;242;242;231;149;110;149	ENSP00000410739:C242S;ENSP00000352610:C242S;ENSP00000269305:C242S;ENSP00000398846:C242S;ENSP00000391127:C242S;ENSP00000391478:C242S;ENSP00000425104:C110S;ENSP00000423862:C149S	ENSP00000269305:C242S	C	-	1	0	TP53	7518282	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	TGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		67	22	0	0	0	0.014410	0	67	22				
LYZL6	57151	broad.mit.edu	37	17	34266465	34266465	+	De_novo_Start_InFrame	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr17:34266465G>T	ENST00000585556.1	-	0	230				LYZL6_ENST00000293274.4_Intron|LYZL6_ENST00000394523.3_De_novo_Start_InFrame|LYZL6_ENST00000492340.2_5'Flank			O75951	LYZL6_HUMAN	lysozyme-like 6						cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGGCAGCCAGGTTTCCTTAC	0.448																																						ENST00000585556.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12								lysozyme-like 6																																						57151				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr17:34266465G>T	AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400		17.37:g.34266465G>T						LYZL6_ENST00000293274.4_Intron|LYZL6_ENST00000394523.3_De_novo_Start_InFrame				O75951	LYZL6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	0	230	-								Q6UW30	Translation_Start_Site	SNP	ENST00000585556.1	37		CCDS11302.1																																																																																				0.448	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256578.2	NM_020426		8	23	1	0	0.00307968	0.003080	0.00360365	8	23				
GAA	2548	broad.mit.edu	37	17	78081647	78081647	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr17:78081647G>A	ENST00000302262.3	+	5	1126	c.907G>A	c.(907-909)Gac>Aac	p.D303N	GAA_ENST00000390015.3_Missense_Mutation_p.D303N	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	303					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GGCGCTGGAGGACGGCGGGTC	0.687																																						ENST00000302262.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(907-909)Gac>Aac		glucosidase, alpha; acid	Acarbose(DB00284)						30.0	32.0	31.0					17																	78081647		2199	4300	6499	SO:0001583	missense	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78081647G>A		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.907G>A	17.37:g.78081647G>A	ENSP00000305692:p.Asp303Asn					GAA_ENST00000390015.3_Missense_Mutation_p.D303N	p.D303N	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		5	1126	+	all_neural(118;0.117)		303					Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	c.907G>A	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104733	0.56291	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.85411	-1.98;-1.98	5.29	3.29	0.37713	Glycoside hydrolase-type carbohydrate-binding (1);	0.273321	0.39083	N	0.001466	T	0.77698	0.4169	L	0.42744	1.35	0.27968	N	0.936528	B	0.14012	0.009	B	0.18263	0.021	T	0.62210	-0.6902	10	0.19147	T	0.46	-22.6089	10.7869	0.46411	0.2136:0.0:0.7864:0.0	.	303	P10253	LYAG_HUMAN	N	303	ENSP00000305692:D303N;ENSP00000374665:D303N	ENSP00000305692:D303N	D	+	1	0	GAA	75696242	0.999000	0.42202	0.956000	0.39512	0.847000	0.48162	2.131000	0.42074	0.723000	0.32274	0.655000	0.94253	GAC		0.687	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			3	25	0	0	0	0.004672	0	3	25				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																653390							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		3	46	0	0	0	0.004672	0	3	46				
IGLC2	3538	broad.mit.edu	37	22	23241819	23241819	+	RNA	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr22:23241819C>A	ENST00000390323.2	+	0	0				IGLJ2_ENST00000390322.2_RNA			P0CG05	LAC2_HUMAN	immunoglobulin lambda constant 2 (Kern-Oz- marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GCGGAGGGACCAAGCTGACCG	0.542																																						ENST00000390322.2																			0																				159.0	145.0	150.0					22																	23241819		1996	4164	6160			28832							g.chr22:23241819C>A	J00253		22q11.2	2012-02-08			ENSG00000211677	ENSG00000211677		"""Immunoglobulins / IGL locus"""	5856	other	immunoglobulin gene				IGLC			Standard	NG_000002		Approved			P0CG05	OTTHUMG00000151214		22.37:g.23241819C>A														0	159	+								A0M8Q4|P80423	RNA	SNP	ENST00000390323.2	37																																																																																						0.542	IGLC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000321818.3	NG_000002		39	45	1	0	6.1244e-12	0.007835	8.1578e-12	39	45				
ATG4D	84971	broad.mit.edu	37	19	10665770	10665770	+	IGR	SNP	G	G	C	rs200311568	byFrequency	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:10665770G>C	ENST00000309469.4	+	0	1949				MIR1238_ENST00000408483.1_RNA|KRI1_ENST00000361821.5_Missense_Mutation_p.R594G|KRI1_ENST00000312962.6_Missense_Mutation_p.R598G	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase						apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			tactcttctCGGCAGAGTGAC	0.592													G|||	3	0.000599042	0.0023	0.0	5008	,	,		13657	0.0		0.0	False		,,,				2504	0.0					ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(1792-1794)Cga>Gga		KRI1 homolog (S. cerevisiae)		G	GLY/ARG	0,4406		0,0,2203	59.0	57.0	57.0		1792	-3.1	0.0	19		57	1,8599		0,1,4299	no	missense	KRI1	NM_023008.3	125	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign	598/710	10665770	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	65095							g.chr19:10665770G>C	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582		19.37:g.10665770G>C						KRI1_ENST00000361821.5_Missense_Mutation_p.R594G	p.R598G	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		18	1811	-			598					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.1792C>G	CCDS12241.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	8.424	0.847012	0.17034	0.0	1.16E-4	ENSG00000129347	ENST00000312962;ENST00000361821	T;T	0.08193	3.28;3.12	4.82	-3.08	0.05347	.	1.332470	0.04701	N	0.415790	T	0.02267	0.0070	N	0.08118	0	0.09310	N	0.999994	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.41305	-0.9516	10	0.20519	T	0.43	2.9056	1.4337	0.02339	0.3475:0.1353:0.3789:0.1383	.	598;594	Q8N9T8;D3YTE0	KRI1_HUMAN;.	G	598;594	ENSP00000320917:R598G;ENSP00000355366:R594G	ENSP00000320917:R598G	R	-	1	2	KRI1	10526770	0.012000	0.17670	0.040000	0.18447	0.385000	0.30292	-0.129000	0.10515	-0.347000	0.08299	0.563000	0.77884	CGA		0.592	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		25	39	0	0	0	0.003330	0	25	39				
KRTAP27-1	643812	broad.mit.edu	37	21	31709388	31709388	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr21:31709388C>A	ENST00000382835.2	-	1	624	c.599G>T	c.(598-600)gGt>gTt	p.G200V		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	200						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TTGAGAACCACCAGTAACACA	0.408																																						ENST00000382835.2																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						c.(598-600)gGt>gTt		keratin associated protein 27-1							66.0	65.0	65.0					21																	31709388		2203	4300	6503	SO:0001583	missense	643812					intermediate filament		g.chr21:31709388C>A	AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"""Keratin associated proteins"""	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.599G>T	21.37:g.31709388C>A	ENSP00000372286:p.Gly200Val						p.G200V	NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN			1	624	-			200						Missense_Mutation	SNP	ENST00000382835.2	37	c.599G>T	CCDS33532.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781642	0.49891	.	.	ENSG00000206107	ENST00000382835	T	0.03580	3.88	4.13	4.13	0.48395	.	0.629145	0.13291	U	0.399013	T	0.15782	0.0380	M	0.65975	2.015	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.00122	-1.2027	10	0.87932	D	0	-10.8019	12.1805	0.54210	0.0:1.0:0.0:0.0	.	200	Q3LI81	KR271_HUMAN	V	200	ENSP00000372286:G200V	ENSP00000372286:G200V	G	-	2	0	KRTAP27-1	30631259	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	2.904000	0.48719	2.586000	0.87340	0.484000	0.47621	GGT		0.408	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711		14	29	1	0	0.000219431	0.002450	0.000260382	14	29				
STK31	56164	broad.mit.edu	37	7	23871841	23871841	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:23871841C>T	ENST00000355870.3	+	24	3035	c.2916C>T	c.(2914-2916)ttC>ttT	p.F972F	STK31_ENST00000354639.3_Silent_p.F949F|STK31_ENST00000433467.2_Silent_p.F949F|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.F949F	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	972	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTGAATGTTTCTTGATGCCAA	0.353																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2845-2847)ttC>ttT		serine/threonine kinase 31							109.0	109.0	109.0					7																	23871841		2203	4300	6503	SO:0001819	synonymous_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23871841C>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2916C>T	7.37:g.23871841C>T						STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Silent_p.F949F|STK31_ENST00000355870.3_Silent_p.F972F|STK31_ENST00000428484.1_Silent_p.F949F	p.F949F	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			24	3311	+			972			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Silent	SNP	ENST00000355870.3	37	c.2847C>T	CCDS5386.1																																																																																				0.353	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		68	60	0	0	0	0.014410	0	68	60				
KCNJ3	3760	broad.mit.edu	37	2	155711512	155711512	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:155711512A>G	ENST00000295101.2	+	3	1670	c.1193A>G	c.(1192-1194)aAa>aGa	p.K398R	KCNJ3_ENST00000544049.1_3'UTR|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	398					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ATTACTACAAAACTACCATCT	0.388																																						ENST00000295101.2																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54						c.(1192-1194)aAa>aGa		potassium inwardly-rectifying channel, subfamily J, member 3	Halothane(DB01159)						101.0	109.0	106.0					2																	155711512		2203	4300	6503	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711512A>G	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1193A>G	2.37:g.155711512A>G	ENSP00000295101:p.Lys398Arg					KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	p.K398R	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN			3	1670	+			398					B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.1193A>G	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	A	10.20	1.284451	0.23392	.	.	ENSG00000162989	ENST00000295101	D	0.88509	-2.39	5.86	5.86	0.93980	.	0.199490	0.51477	D	0.000093	T	0.76786	0.4036	N	0.12746	0.255	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.70967	-0.4728	10	0.08837	T	0.75	.	11.3283	0.49460	0.9275:0.0:0.0725:0.0	.	398	P48549	IRK3_HUMAN	R	398	ENSP00000295101:K398R	ENSP00000295101:K398R	K	+	2	0	KCNJ3	155419758	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.306000	0.78905	2.244000	0.73946	0.528000	0.53228	AAA		0.388	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		64	98	0	0	0	0.014410	0	64	98				
KDM6A	7403	broad.mit.edu	37	X	44938390	44938390	+	Splice_Site	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chrX:44938390G>C	ENST00000377967.4	+	20	2979		c.e20-1		KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TATTCATGAAGACCTGGGACT	0.328			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.e20-1		lysine (K)-specific demethylase 6A							53.0	46.0	48.0					X																	44938390		2203	4300	6503	SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44938390G>C	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2939-1G>C	X.37:g.44938390G>C						KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site		NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			20	2979	+								Q52LL9|Q5JVQ7	Splice_Site	SNP	ENST00000377967.4	37		CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125631	0.77436	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000414389;ENST00000433797	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4214	0.90591	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44823334	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.476000	0.97823	2.290000	0.77057	0.594000	0.82650	.		0.328	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Intron	11	1	0	0	0	0.008291	0	11	1				
DNAH5	1767	broad.mit.edu	37	5	13719184	13719184	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:13719184G>T	ENST00000265104.4	-	72	12410	c.12306C>A	c.(12304-12306)tgC>tgA	p.C4102*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4102	AAA 6. {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)					GTCCCAGATGGCAGTTCTGCA	0.418									Kartagener syndrome																													ENST00000265104.4																			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.(12304-12306)tgC>tgA		dynein, axonemal, heavy chain 5							83.0	81.0	81.0					5																	13719184		2203	4300	6503	SO:0001587	stop_gained	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.chr5:13719184G>T	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.12306C>A	5.37:g.13719184G>T	ENSP00000265104:p.Cys4102*						p.C4102*	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			72	12410	-	Lung NSC(4;0.00476)		4102			AAA 6 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	c.12306C>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	53	20.623683	0.99932	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.59	3.83	0.44106	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1027	0.53794	0.1384:0.0:0.8616:0.0	.	.	.	.	X	4102	.	ENSP00000265104:C4102X	C	-	3	2	DNAH5	13772184	1.000000	0.71417	1.000000	0.80357	0.270000	0.26580	1.505000	0.35736	0.733000	0.32492	-0.145000	0.13849	TGC		0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		22	29	1	0	1.10513e-12	0.014323	1.4957e-12	22	29				
SAFB2	9667	broad.mit.edu	37	19	5598876	5598876	+	Silent	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:5598876C>G	ENST00000252542.4	-	13	1974	c.1710G>C	c.(1708-1710)cgG>cgC	p.R570R	SAFB2_ENST00000591310.1_5'Flank	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	570					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TCACGACCGTCCGCTCCATTC	0.507																																					Ovarian(127;888 1728 23957 44128 52668)	ENST00000252542.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1708-1710)cgG>cgC		scaffold attachment factor B2							202.0	156.0	171.0					19																	5598876		2203	4300	6503	SO:0001819	synonymous_variant	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5598876C>G	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.1710G>C	19.37:g.5598876C>G							p.R570R	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	13	1974	-			570					B4DKG3|Q8TB13	Silent	SNP	ENST00000252542.4	37	c.1710G>C	CCDS32879.1																																																																																				0.507	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		26	48	0	0	0	0.008361	0	26	48				
ABT1	29777	broad.mit.edu	37	6	26597372	26597372	+	Silent	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:26597372G>T	ENST00000274849.1	+	1	193	c.162G>T	c.(160-162)ccG>ccT	p.P54P		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	54	RRM.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron differentiation (GO:0021522)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						GCCATATCCCGCCGCGCTTCC	0.612																																						ENST00000274849.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(160-162)ccG>ccT		activator of basal transcription 1							47.0	57.0	54.0					6																	26597372		2203	4300	6503	SO:0001819	synonymous_variant	29777				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity	g.chr6:26597372G>T	AB027258	CCDS4616.1	6p21.31	2008-07-07			ENSG00000146109	ENSG00000146109			17369	protein-coding gene	gene with protein product						10648625	Standard	NM_013375		Approved		uc003nii.3	Q9ULW3	OTTHUMG00000016319	ENST00000274849.1:c.162G>T	6.37:g.26597372G>T							p.P54P	NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN			1	193	+			54			RRM.			Silent	SNP	ENST00000274849.1	37	c.162G>T	CCDS4616.1																																																																																				0.612	ABT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043698.1			16	28	1	0	2.32078e-09	0.003163	2.98513e-09	16	28				
HAO1	54363	broad.mit.edu	37	20	7895010	7895010	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr20:7895010C>T	ENST00000378789.3	-	3	397	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	116	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCCACTTCTTCAATTGAGGAG	0.532																																						ENST00000378789.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(346-348)Gaa>Aaa		hydroxyacid oxidase (glycolate oxidase) 1							81.0	59.0	67.0					20																	7895010		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7895010C>T	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.346G>A	20.37:g.7895010C>T	ENSP00000368066:p.Glu116Lys						p.E116K	NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN			3	397	-			116			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.346G>A	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	36	5.701865	0.96812	.	.	ENSG00000101323	ENST00000378789	T	0.39406	1.08	5.99	5.99	0.97316	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.69886	0.3161	M	0.86740	2.835	0.80722	D	1	P;P	0.51147	0.942;0.942	P;P	0.61201	0.885;0.885	T	0.72858	-0.4165	10	0.72032	D	0.01	-9.5159	20.4777	0.99188	0.0:1.0:0.0:0.0	.	116;116	A8K058;Q9UJM8	.;HAOX1_HUMAN	K	116	ENSP00000368066:E116K	ENSP00000368066:E116K	E	-	1	0	HAO1	7843010	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.456000	0.80751	2.840000	0.97914	0.655000	0.94253	GAA		0.532	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			14	36	0	0	0	0.001855	0	14	36				
DUSP6	1848	broad.mit.edu	37	12	89745444	89745444	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr12:89745444C>T	ENST00000279488.7	-	1	1604	c.373G>A	c.(373-375)Gag>Aag	p.E125K	DUSP6_ENST00000308385.6_Missense_Mutation_p.E125K|DUSP6_ENST00000547140.1_5'Flank|DUSP6_ENST00000547291.1_5'Flank	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	125	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CGGCAGCCCTCGTCCTTGAGC	0.687																																					Colon(132;3456 5224)	ENST00000279488.7																			0				large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						c.(373-375)Gag>Aag		dual specificity phosphatase 6							8.0	9.0	8.0					12																	89745444		2144	4202	6346	SO:0001583	missense	1848				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:89745444C>T	BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.373G>A	12.37:g.89745444C>T	ENSP00000279488:p.Glu125Lys					DUSP6_ENST00000308385.6_Missense_Mutation_p.E125K	p.E125K	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN			1	1604	-			125			Rhodanese.		O75109|Q53Y75|Q9BSH6	Missense_Mutation	SNP	ENST00000279488.7	37	c.373G>A	CCDS9033.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711981	0.89112	.	.	ENSG00000139318	ENST00000279488;ENST00000308385	T;T	0.25250	1.81;1.81	5.27	5.27	0.74061	Rhodanese-like (5);	0.049197	0.85682	D	0.000000	T	0.44350	0.1289	M	0.69358	2.11	0.80722	D	1	P;B	0.52170	0.951;0.284	P;B	0.55871	0.786;0.267	T	0.10543	-1.0625	10	0.32370	T	0.25	.	18.0661	0.89391	0.0:1.0:0.0:0.0	.	125;125	Q16828-2;Q16828	.;DUS6_HUMAN	K	125	ENSP00000279488:E125K;ENSP00000307835:E125K	ENSP00000279488:E125K	E	-	1	0	DUSP6	88269575	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.573000	0.82421	2.748000	0.94277	0.655000	0.94253	GAG		0.687	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2	NM_001946, NM_022652		6	2	0	0	0	0.001168	0	6	2				
SPATA31A6	389730	broad.mit.edu	37	9	43626706	43626706	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr9:43626706T>A	ENST00000332857.6	-	4	2009	c.1981A>T	c.(1981-1983)Agg>Tgg	p.R661W	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	661					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CACAGGTCCCTCTCTAGCTGG	0.562																																						ENST00000332857.6																			0											c.(1981-1983)Agg>Tgg		SPATA31 subfamily A, member 6							2.0	3.0	2.0					9																	43626706		449	1278	1727	SO:0001583	missense	389730							g.chr9:43626706T>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1981A>T	9.37:g.43626706T>A	ENSP00000329825:p.Arg661Trp						p.R661W	NM_001145196.1	NP_001138668.1					4	2009	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.1981A>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.234680	0.39498	.	.	ENSG00000185775	ENST00000332857	T	0.07567	3.18	2.44	1.35	0.21983	.	1.338960	0.05417	N	0.543517	T	0.15739	0.0379	L	0.39898	1.24	0.09310	N	1	P	0.39071	0.658	P	0.52758	0.708	T	0.37337	-0.9710	10	0.66056	D	0.02	0.0615	5.5469	0.17069	0.0:0.0:0.3789:0.6211	.	661	Q5VVP1	F75A6_HUMAN	W	661	ENSP00000329825:R661W	ENSP00000329825:R661W	R	-	1	2	FAM75A6	43566702	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.405000	0.21015	0.437000	0.26423	0.315000	0.21342	AGG		0.562	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		71	13	0	0	0	0.014410	0	71	13				
FAM60A	58516	broad.mit.edu	37	12	31435799	31435799	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr12:31435799C>T	ENST00000337682.4	-	6	881	c.513G>A	c.(511-513)aaG>aaA	p.K171K	FAM60A_ENST00000539409.1_Silent_p.K23K|FAM60A_ENST00000395766.1_Silent_p.K23K|FAM60A_ENST00000454658.2_Silent_p.K171K|FAM60A_ENST00000542983.1_Silent_p.K23K	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	171					negative regulation of cell migration (GO:0030336)	Sin3 complex (GO:0016580)				large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					CACAACATATCTTCTGTCTAA	0.353																																						ENST00000337682.4																			0				large_intestine(1)|lung(2)	3						c.(511-513)aaG>aaA		family with sequence similarity 60, member A							43.0	42.0	43.0					12																	31435799		2203	4300	6503	SO:0001819	synonymous_variant	58516							g.chr12:31435799C>T	AF212220	CCDS8723.1	12p11.21	2012-11-30	2005-04-07	2005-04-07	ENSG00000139146	ENSG00000139146			30702	protein-coding gene	gene with protein product		615027	"""chromosome 12 open reading frame 14"""	C12orf14		11042152, 22984288, 22865885	Standard	NM_021238		Approved	TERA	uc001rke.3	Q9NP50	OTTHUMG00000168586	ENST00000337682.4:c.513G>A	12.37:g.31435799C>T						FAM60A_ENST00000539409.1_Silent_p.K23K|FAM60A_ENST00000395766.1_Silent_p.K23K|FAM60A_ENST00000542983.1_Silent_p.K23K|FAM60A_ENST00000454658.2_Silent_p.K171K	p.K171K	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN			6	881	-	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)		171					D3DUV8|Q9BSZ8	Silent	SNP	ENST00000337682.4	37	c.513G>A	CCDS8723.1																																																																																				0.353	FAM60A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400347.1	NM_021238		17	29	0	0	0	0.007413	0	17	29				
PCDHGA9	56107	broad.mit.edu	37	5	140784798	140784798	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:140784798C>A	ENST00000573521.1	+	1	2279	c.2279C>A	c.(2278-2280)aCc>aAc	p.T760N	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	760					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTCCCTCACCGCTGACTCA	0.537																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(2278-2280)aCc>aAc									105.0	113.0	110.0					5																	140784798		2203	4300	6503	SO:0001583	missense	56107							g.chr5:140784798C>A	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.2279C>A	5.37:g.140784798C>A	ENSP00000460274:p.Thr760Asn					PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	p.T760N	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2279	+								A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.2279C>A	CCDS58981.1																																																																																				0.537	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		44	83	1	0	1.48734e-19	0.013114	2.2277e-19	44	83				
AGL	178	broad.mit.edu	37	1	100327061	100327061	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:100327061T>C	ENST00000294724.4	+	3	563	c.85T>C	c.(85-87)Tat>Cat	p.Y29H	AGL_ENST00000361522.4_Missense_Mutation_p.Y12H|AGL_ENST00000370165.3_Missense_Mutation_p.Y29H|AGL_ENST00000370161.2_Missense_Mutation_p.Y13H|AGL_ENST00000370163.3_Missense_Mutation_p.Y29H|AGL_ENST00000361915.3_Missense_Mutation_p.Y29H|AGL_ENST00000361302.3_Missense_Mutation_p.Y13H	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	29					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TTATTTAGGGTATGAGCTACA	0.308																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(85-87)Tat>Cat		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							52.0	53.0	53.0					1																	100327061		2203	4299	6502	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100327061T>C	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.85T>C	1.37:g.100327061T>C	ENSP00000294724:p.Tyr29His					AGL_ENST00000370161.2_Missense_Mutation_p.Y13H|AGL_ENST00000370165.3_Missense_Mutation_p.Y29H|AGL_ENST00000361915.3_Missense_Mutation_p.Y29H|AGL_ENST00000370163.3_Missense_Mutation_p.Y29H|AGL_ENST00000361302.3_Missense_Mutation_p.Y13H|AGL_ENST00000361522.4_Missense_Mutation_p.Y12H	p.Y29H	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	3	563	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	29					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.85T>C	CCDS759.1	.	.	.	.	.	.	.	.	.	.	T	14.76	2.632983	0.47049	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	4.97	4.97	0.65823	.	0.056665	0.64402	D	0.000001	T	0.45196	0.1330	N	0.19112	0.55	0.33033	D	0.530387	B;B;B	0.18310	0.027;0.027;0.005	B;B;B	0.17098	0.017;0.017;0.004	T	0.40850	-0.9541	10	0.33940	T	0.23	.	14.6514	0.68800	0.0:0.0:0.0:1.0	.	12;13;29	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	H	29;29;29;29;13;13;12	ENSP00000355106:Y29H;ENSP00000359184:Y29H;ENSP00000359182:Y29H;ENSP00000294724:Y29H;ENSP00000354971:Y13H;ENSP00000359180:Y13H;ENSP00000354635:Y12H	ENSP00000294724:Y29H	Y	+	1	0	AGL	100099649	1.000000	0.71417	0.992000	0.48379	0.822000	0.46500	7.985000	0.88162	1.866000	0.54105	0.460000	0.39030	TAT		0.308	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		12	9	0	0	0	0.013537	0	12	9				
PLEKHG3	26030	broad.mit.edu	37	14	65194605	65194605	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr14:65194605C>T	ENST00000394691.1	+	2	403	c.256C>T	c.(256-258)Cct>Tct	p.P86S	PLEKHG3_ENST00000247226.7_Missense_Mutation_p.P86S			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	86							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGCGGCAGGGCCTGCACACCA	0.637																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(256-258)Cct>Tct		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							38.0	38.0	38.0					14																	65194605		2202	4300	6502	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65194605C>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.256C>T	14.37:g.65194605C>T	ENSP00000378183:p.Pro86Ser					PLEKHG3_ENST00000394691.1_Missense_Mutation_p.P86S	p.P86S	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	2	564	+			86					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.256C>T		.	.	.	.	.	.	.	.	.	.	C	0.522	-0.861575	0.02610	.	.	ENSG00000126822	ENST00000555982;ENST00000247226;ENST00000394691;ENST00000554499	T;T;T;T	0.66460	1.58;-0.21;-0.21;0.84	4.75	-2.44	0.06502	Dbl homology (DH) domain (1);	2.246340	0.01443	N	0.015160	T	0.55862	0.1947	L	0.46157	1.445	0.21105	N	0.999781	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.33574	-0.9863	10	0.46703	T	0.11	.	2.6075	0.04882	0.1214:0.4571:0.1196:0.3018	.	86;86	A1L390;A1L390-3	PKHG3_HUMAN;.	S	86	ENSP00000450501:P86S;ENSP00000247226:P86S;ENSP00000378183:P86S;ENSP00000451256:P86S	ENSP00000247226:P86S	P	+	1	0	PLEKHG3	64264358	0.028000	0.19301	0.001000	0.08648	0.001000	0.01503	0.052000	0.14163	-0.150000	0.11195	-1.166000	0.01754	CCT		0.637	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		8	4	0	0	0	0.003080	0	8	4				
PCDHB15	56121	broad.mit.edu	37	5	140627413	140627413	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:140627413C>A	ENST00000231173.3	+	1	2267	c.2267C>A	c.(2266-2268)aCg>aAg	p.T756K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	756					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGTGTCTGACGGGAGGCTCT	0.517																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(2266-2268)aCg>aAg									109.0	121.0	117.0					5																	140627413		2203	4300	6503	SO:0001583	missense	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627413C>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2267C>A	5.37:g.140627413C>A	ENSP00000231173:p.Thr756Lys						p.T756K	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2267	+			756					Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.2267C>A	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712085	0.48517	.	.	ENSG00000113248	ENST00000231173	T	0.16457	2.34	4.34	1.39	0.22231	.	.	.	.	.	T	0.34978	0.0916	H	0.95187	3.635	0.09310	N	0.999998	B	0.29835	0.258	B	0.35813	0.211	T	0.34750	-0.9816	9	0.87932	D	0	.	9.0621	0.36440	0.0:0.642:0.2785:0.0795	.	756	Q9Y5E8	PCDBF_HUMAN	K	756	ENSP00000231173:T756K	ENSP00000231173:T756K	T	+	2	0	PCDHB15	140607597	0.000000	0.05858	0.011000	0.14972	0.363000	0.29612	0.180000	0.16860	0.045000	0.15804	0.556000	0.70494	ACG		0.517	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		71	120	1	0	4.98182e-18	0.014410	7.29945e-18	71	120				
TECRL	253017	broad.mit.edu	37	4	65147243	65147243	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr4:65147243G>A	ENST00000381210.3	-	10	977	c.867C>T	c.(865-867)aaC>aaT	p.N289N	TECRL_ENST00000507440.1_Silent_p.N289N	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	289					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ATGTGAAGGGGTTATAATTTG	0.328																																						ENST00000381210.3																			0				endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						c.(865-867)aaC>aaT		trans-2,3-enoyl-CoA reductase-like							104.0	102.0	102.0					4																	65147243		2203	4300	6503	SO:0001819	synonymous_variant	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65147243G>A	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.867C>T	4.37:g.65147243G>A						TECRL_ENST00000507440.1_Silent_p.N289N	p.N289N	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN			10	977	-			289						Silent	SNP	ENST00000381210.3	37	c.867C>T	CCDS33990.1																																																																																				0.328	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		19	7	0	0	0	0.006122	0	19	7				
RYR3	6263	broad.mit.edu	37	15	33954863	33954863	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr15:33954863G>C	ENST00000389232.4	+	35	5202	c.5132G>C	c.(5131-5133)cGa>cCa	p.R1711P	RYR3_ENST00000415757.3_Missense_Mutation_p.R1711P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1711	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R1711L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCCCACATCCGAGACCCTGTA	0.562																																						ENST00000389232.4																			1	Substitution - Missense(1)	p.R1711L(1)	lung(1)	NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(5131-5133)cGa>cCa		ryanodine receptor 3							72.0	79.0	77.0					15																	33954863		2062	4233	6295	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33954863G>C		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5132G>C	15.37:g.33954863G>C	ENSP00000373884:p.Arg1711Pro					RYR3_ENST00000415757.3_Missense_Mutation_p.R1711P	p.R1711P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	35	5202	+		all_lung(180;7.18e-09)	1711			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.5132G>C	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425297	0.83667	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.75589	-0.95;-0.95	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000002	D	0.87884	0.6290	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.974;0.999	D	0.88822	0.3299	10	0.87932	D	0	.	19.3887	0.94570	0.0:0.0:1.0:0.0	.	1711;1711	Q15413-2;Q15413	.;RYR3_HUMAN	P	1711	ENSP00000373884:R1711P;ENSP00000399610:R1711P	ENSP00000354735:R1711P	R	+	2	0	RYR3	31742155	1.000000	0.71417	0.997000	0.53966	0.856000	0.48823	9.349000	0.97066	2.826000	0.97356	0.655000	0.94253	CGA		0.562	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			23	18	0	0	0	0.003330	0	23	18				
PDZRN3	23024	broad.mit.edu	37	3	73432909	73432909	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr3:73432909C>A	ENST00000263666.4	-	10	2922	c.2808G>T	c.(2806-2808)agG>agT	p.R936S	PDZRN3_ENST00000466780.1_Missense_Mutation_p.R593S|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R593S|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R653S|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R658S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	936					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCCGCACGGGCCTCTTGGTGA	0.667																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2806-2808)agG>agT		PDZ domain containing ring finger 3							32.0	34.0	33.0					3																	73432909		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73432909C>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2808G>T	3.37:g.73432909C>A	ENSP00000263666:p.Arg936Ser					PDZRN3_ENST00000479530.1_Missense_Mutation_p.R653S|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R593S|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R658S|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R593S	p.R936S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2922	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	936					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2808G>T	CCDS33789.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.27|18.27|18.27	3.586073|3.586073|3.586073	0.66105|0.66105|0.66105	.|.|.	.|.|.	ENSG00000121440|ENSG00000121440|ENSG00000121440	ENST00000416926|ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	.|.|T;T;T;T;T	.|.|0.53206	.|.|0.63;0.63;0.63;0.63;0.63	5.4|5.4|5.4	4.52|4.52|4.52	0.55395|0.55395|0.55395	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.67785|0.67785|0.67785	0.2930|0.2930|0.2930	M|M|M	0.82716|0.82716|0.82716	2.605|2.605|2.605	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D;D	.|.|0.89917	.|.|1.0;1.0;1.0;0.997	.|.|D;D;D;D	.|.|0.91635	.|.|0.999;0.996;0.999;0.989	T|T|T	0.70967|0.70967|0.70967	-0.4728|-0.4728|-0.4728	5|5|10	.|.|0.87932	.|.|D	.|.|0	.|.|.	8.884|8.884|8.884	0.35392|0.35392|0.35392	0.0:0.6372:0.2868:0.076|0.0:0.6372:0.2868:0.076|0.0:0.6372:0.2868:0.076	.|.|.	.|.|658;653;653;936	.|.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.|.;.;.;PZRN3_HUMAN	S|V|S	656|252|936;658;593;593;653	.|.|ENSP00000263666:R936S;ENSP00000442026:R658S;ENSP00000418168:R593S;ENSP00000418484:R593S;ENSP00000418624:R653S	.|.|ENSP00000263666:R936S	A|G|R	-|-|-	1|2|3	0|0|2	PDZRN3|PDZRN3|PDZRN3	73515599|73515599|73515599	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.994000|0.994000|0.994000	0.49952|0.49952|0.49952	0.956000|0.956000|0.956000	0.61745|0.61745|0.61745	1.084000|1.084000|1.084000	0.30828|0.30828|0.30828	1.256000|1.256000|1.256000	0.44068|0.44068|0.44068	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCC|GGC|AGG		0.667	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		19	13	1	0	3.99206e-14	0.007413	5.49112e-14	19	13				
OR5M1	390168	broad.mit.edu	37	11	56380788	56380788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:56380788C>T	ENST00000526538.1	-	1	190	c.191G>A	c.(190-192)gGc>gAc	p.G64D		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GGAGAGGTGGCCAAGGAAGAA	0.468																																						ENST00000526538.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						c.(190-192)gGc>gAc		olfactory receptor, family 5, subfamily M, member 1							184.0	179.0	181.0					11																	56380788		1968	4163	6131	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380788C>T	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.191G>A	11.37:g.56380788C>T	ENSP00000435416:p.Gly64Asp						p.G64D	NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN			1	190	-			64					Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.191G>A	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	C	9.894	1.205158	0.22205	.	.	ENSG00000255012	ENST00000526538	T	0.01981	4.52	3.71	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.343499	0.20673	N	0.087789	T	0.03263	0.0095	M	0.65975	2.015	0.09310	N	1	B	0.30584	0.286	B	0.26094	0.066	T	0.27839	-1.0062	10	0.87932	D	0	-26.3939	8.4336	0.32773	0.168:0.6679:0.1641:0.0	.	64	Q8NGP8	OR5M1_HUMAN	D	64	ENSP00000435416:G64D	ENSP00000435416:G64D	G	-	2	0	OR5M1	56137364	0.000000	0.05858	0.931000	0.37212	0.782000	0.44232	-0.225000	0.09151	1.949000	0.56562	0.280000	0.19369	GGC		0.468	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		44	80	0	0	0	0.011902	0	44	80				
RABEP2	79874	broad.mit.edu	37	16	28917494	28917494	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr16:28917494G>A	ENST00000358201.4	-	9	1857	c.1269C>T	c.(1267-1269)tgC>tgT	p.C423C	RABEP2_ENST00000357573.6_Silent_p.C391C|RABEP2_ENST00000544477.1_Silent_p.C352C	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	423					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CTTGCCGCGTGCAGCACAGCA	0.716																																					Pancreas(66;639 1284 10093 31061 49099)	ENST00000358201.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						c.(1267-1269)tgC>tgT		rabaptin, RAB GTPase binding effector protein 2							6.0	8.0	7.0					16																	28917494		1887	3986	5873	SO:0001819	synonymous_variant	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28917494G>A	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.1269C>T	16.37:g.28917494G>A						RABEP2_ENST00000544477.1_Silent_p.C352C|RABEP2_ENST00000357573.6_Silent_p.C391C	p.C423C	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN			9	1857	-			423						Silent	SNP	ENST00000358201.4	37	c.1269C>T	CCDS42140.1																																																																																				0.716	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		7	10	0	0	0	0.004482	0	7	10				
MUC3A	4584	broad.mit.edu	37	7	100551864	100551864	+	Silent	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:100551864C>G	ENST00000319509.7	+	1	615	c.615C>G	c.(613-615)ctC>ctG	p.L205L				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	1870	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AAACTTCACTCACATCTACAA	0.438																																						ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(613-615)ctC>ctG		mucin 3A, cell surface associated							679.0	663.0	668.0					7																	100551864		876	1991	2867	SO:0001819	synonymous_variant	4584							g.chr7:100551864C>G	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.615C>G	7.37:g.100551864C>G							p.L205L							1	615	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Silent	SNP	ENST00000319509.7	37	c.615C>G																																																																																					0.438	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		56	515	0	0	0	0.014410	0	56	515				
LRP5	4041	broad.mit.edu	37	11	68154175	68154175	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:68154175G>A	ENST00000294304.7	+	6	1513	c.1407G>A	c.(1405-1407)gtG>gtA	p.V469V		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	469	Beta-propeller 2.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCACCCCGTGATGGGGTAAG	0.672																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1405-1407)gtG>gtA		low density lipoprotein receptor-related protein 5							22.0	22.0	22.0					11																	68154175		2191	4283	6474	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68154175G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1407G>A	11.37:g.68154175G>A							p.V469V	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			6	1513	+			469			Beta-propeller 2.		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.1407G>A	CCDS8181.1																																																																																				0.672	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		13	27	0	0	0	0.003163	0	13	27				
RELT	84957	broad.mit.edu	37	11	73101965	73101965	+	Splice_Site	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:73101965G>T	ENST00000064780.2	+	4	547	c.286G>T	c.(286-288)Ggg>Tgg	p.G96W	RELT_ENST00000393580.2_Splice_Site_p.G96W	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	96						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						CTGCTGGCCTGGGTAAGCCAA	0.632																																						ENST00000064780.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						c.e4+1		RELT tumor necrosis factor receptor							48.0	52.0	51.0					11																	73101965		2200	4293	6493	SO:0001630	splice_region_variant	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73101965G>T	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.287+1G>T	11.37:g.73101965G>T						RELT_ENST00000393580.2_Splice_Site_p.G96_splice	p.G96_splice	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN			4	547	+			96					Q86V34|Q96JU1|Q9BUX7	Splice_Site	SNP	ENST00000064780.2	37	c.287_splice	CCDS8222.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669867	0.88348	.	.	ENSG00000054967	ENST00000064780;ENST00000545687;ENST00000393580	D;D;D	0.84223	-1.6;-1.82;-1.6	5.31	5.31	0.75309	.	0.108819	0.64402	D	0.000007	D	0.92496	0.7617	M	0.82193	2.58	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.93231	0.6617	10	0.87932	D	0	-34.8675	14.8893	0.70594	0.0:0.0:1.0:0.0	.	96	Q969Z4	TR19L_HUMAN	W	96	ENSP00000064780:G96W;ENSP00000439352:G96W;ENSP00000377207:G96W	ENSP00000064780:G96W	G	+	1	0	RELT	72779613	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.344000	0.79328	2.652000	0.90054	0.638000	0.83543	GGG		0.632	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871	Missense_Mutation	24	19	1	0	1.77063e-15	0.005443	2.49666e-15	24	19				
METTL3	56339	broad.mit.edu	37	14	21969087	21969087	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr14:21969087C>T	ENST00000298717.4	-	5	1235	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	362					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GCACTGGAATCACCTCCGACA	0.507																																						ENST00000298717.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1084-1086)Gat>Aat		methyltransferase like 3							62.0	54.0	57.0					14																	21969087		2203	4300	6503	SO:0001583	missense	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21969087C>T	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.1084G>A	14.37:g.21969087C>T	ENSP00000298717:p.Asp362Asn						p.D362N	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	5	1235	-	all_cancers(95;0.000628)		362					O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	c.1084G>A	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689272	0.48097	.	.	ENSG00000165819	ENST00000298717	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.39708	0.1088	N	0.12746	0.255	0.80722	D	1	B	0.31837	0.342	B	0.25884	0.064	T	0.23976	-1.0173	9	0.25751	T	0.34	-15.3078	18.332	0.90272	0.0:1.0:0.0:0.0	.	362	Q86U44	MTA70_HUMAN	N	362	.	ENSP00000298717:D362N	D	-	1	0	METTL3	21038927	1.000000	0.71417	1.000000	0.80357	0.269000	0.26545	6.796000	0.75145	2.861000	0.98227	0.655000	0.94253	GAT		0.507	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		12	8	0	0	0	0.001855	0	12	8				
STK31	56164	broad.mit.edu	37	7	23827673	23827673	+	Silent	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:23827673A>G	ENST00000355870.3	+	21	2681	c.2562A>G	c.(2560-2562)tcA>tcG	p.S854S	STK31_ENST00000354639.3_Silent_p.S831S|STK31_ENST00000433467.2_Silent_p.S854S|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.S831S	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	854	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTCATGGATCACTTCATCAGA	0.353																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2491-2493)tcA>tcG		serine/threonine kinase 31							150.0	139.0	142.0					7																	23827673		2203	4300	6503	SO:0001819	synonymous_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23827673A>G	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2562A>G	7.37:g.23827673A>G						STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Silent_p.S854S|STK31_ENST00000355870.3_Silent_p.S854S|STK31_ENST00000428484.1_Silent_p.S831S	p.S831S	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			21	2957	+			854			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Silent	SNP	ENST00000355870.3	37	c.2493A>G	CCDS5386.1																																																																																				0.353	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		33	93	0	0	0	0.013726	0	33	93				
APOBEC2	10930	broad.mit.edu	37	6	41029194	41029194	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:41029194C>A	ENST00000244669.2	+	2	303	c.259C>A	c.(259-261)Cgg>Agg	p.R87R		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	87					cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAGGCATCTCGGGGATACCT	0.567																																					Ovarian(118;1320 2185 8096 29684)	ENST00000244669.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10						c.(259-261)Cgg>Agg		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2							89.0	82.0	84.0					6																	41029194		2203	4300	6503	SO:0001819	synonymous_variant	10930				DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding	g.chr6:41029194C>A	AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"""Apolipoprotein B mRNA editing enzymes"""	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.259C>A	6.37:g.41029194C>A							p.R87R	NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN			2	303	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		87					B2R899|Q53F28|Q5TGU5|Q5TGU6	Silent	SNP	ENST00000244669.2	37	c.259C>A	CCDS4848.1																																																																																				0.567	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040498.1	NM_006789		36	82	1	0	4.34311e-12	0.003271	5.80804e-12	36	82				
TNS1	7145	broad.mit.edu	37	2	218751275	218751275	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:218751275T>A	ENST00000171887.4	-	11	1038	c.586A>T	c.(586-588)Aac>Tac	p.N196Y	TNS1_ENST00000430930.1_Missense_Mutation_p.N196Y|TNS1_ENST00000310858.6_Missense_Mutation_p.N227Y|TNS1_ENST00000419504.1_Missense_Mutation_p.N196Y	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	196	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GACTCAAAGTTGGGGATGCCG	0.522											OREG0015188	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(586-588)Aac>Tac		tensin 1							125.0	102.0	110.0					2																	218751275		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218751275T>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.586A>T	2.37:g.218751275T>A	ENSP00000171887:p.Asn196Tyr		OREG0015188	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2253	TNS1_ENST00000430930.1_Missense_Mutation_p.N196Y|TNS1_ENST00000419504.1_Missense_Mutation_p.N196Y|TNS1_ENST00000310858.6_Missense_Mutation_p.N227Y	p.N196Y	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	11	1038	-		Renal(207;0.0483)|Lung NSC(271;0.213)	196			C2 tensin-type.		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.586A>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.240404	0.79912	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858	D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	5.16	5.16	0.70880	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	D	0.92496	0.7617	M	0.83012	2.62	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.537;0.987;0.982;1.0;1.0	D;P;D;P;D;D	0.97110	1.0;0.722;0.956;0.904;1.0;1.0	D	0.93268	0.6649	9	0.59425	D	0.04	.	15.1521	0.72709	0.0:0.0:0.0:1.0	.	196;250;227;196;196;196	B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55	.;.;.;TENS1_HUMAN;.;.	Y	196;196;196;321;264;227	ENSP00000171887:N196Y;ENSP00000408724:N196Y;ENSP00000406016:N196Y;ENSP00000405460:N321Y;ENSP00000400383:N264Y;ENSP00000308321:N227Y	ENSP00000171887:N196Y	N	-	1	0	TNS1	218459520	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.029000	0.70895	2.169000	0.68431	0.486000	0.48141	AAC		0.522	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		15	5	0	0	0	0.003163	0	15	5				
ARHGAP30	257106	broad.mit.edu	37	1	161022564	161022564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:161022564G>A	ENST00000368013.3	-	7	1008	c.688C>T	c.(688-690)Cga>Tga	p.R230*	ARHGAP30_ENST00000368015.1_Nonsense_Mutation_p.R53*|ARHGAP30_ENST00000368016.3_Nonsense_Mutation_p.R230*	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	230					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGAAGCGATCGCCACCCACTC	0.607																																						ENST00000368013.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(688-690)Cga>Tga		Rho GTPase activating protein 30							45.0	48.0	47.0					1																	161022564		2203	4300	6503	SO:0001587	stop_gained	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161022564G>A	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.688C>T	1.37:g.161022564G>A	ENSP00000356992:p.Arg230*					ARHGAP30_ENST00000368015.1_Nonsense_Mutation_p.R53*|ARHGAP30_ENST00000368016.3_Nonsense_Mutation_p.R230*	p.R230*	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		7	1008	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		230					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Nonsense_Mutation	SNP	ENST00000368013.3	37	c.688C>T	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	G	37	6.435718	0.97564	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017;ENST00000368015	.	.	.	4.2	2.16	0.27623	.	0.444110	0.19349	N	0.116455	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	8.8036	0.34923	0.0:0.0:0.5618:0.4382	.	.	.	.	X	230;230;82;53	.	ENSP00000356992:R230X	R	-	1	2	ARHGAP30	159289188	0.361000	0.24972	0.963000	0.40424	0.928000	0.56348	0.882000	0.28186	0.319000	0.23209	0.549000	0.68633	CGA		0.607	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		27	39	0	0	0	0.006320	0	27	39				
TRGV2	6974	broad.mit.edu	37	7	38402465	38402465	+	RNA	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:38402465C>A	ENST00000426402.2	-	0	543									T cell receptor gamma variable 2																		AATCACTGTGCCCGTCCCAGG	0.473																																						ENST00000426402.2																			0																				71.0	65.0	67.0					7																	38402465		1878	4116	5994			6974							g.chr7:38402465C>A	M13429		7p14	2012-02-07			ENSG00000233306	ENSG00000233306		"""T cell receptors / TRG locus"""	12287	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V2"""			TCRGV2		2938743, 2969332	Standard	NG_001336		Approved	VIS2			OTTHUMG00000155105		7.37:g.38402465C>A														0	543	-									RNA	SNP	ENST00000426402.2	37																																																																																						0.473	TRGV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338419.4	NG_001336		31	27	1	0	6.00712e-18	0.012213	8.76364e-18	31	27				
CYP21A1P	1590	broad.mit.edu	37	6	31975532	31975532	+	5'Flank	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:31975532C>T	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							GGACCGTGCACGGCTGCCCTT	0.657																																						ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	1590						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975532C>T																													6.37:g.31975532C>T	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1455	+									RNA	SNP	ENST00000594256.1	37																																																																																						0.657	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				19	19	0	0	0	0.007413	0	19	19				
CMTM1	113540	broad.mit.edu	37	16	66603837	66603837	+	Splice_Site	SNP	A	A	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr16:66603837A>T	ENST00000457188.2	+	2	202		c.e2-1		CMTM1_ENST00000379500.2_Splice_Site|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000528324.1_Splice_Site|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000328020.6_Splice_Site|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000529506.1_Intron	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1						chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CTTTTATTGCAGAGTCTTATC	0.323																																						ENST00000379500.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.e2-1		CKLF-like MARVEL transmembrane domain containing 1							106.0	105.0	105.0					16																	66603837		2200	4300	6500	SO:0001630	splice_region_variant	113540				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66603837A>T	AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"""chemokine-like factor super family 1"", ""chemokine-like factor superfamily 1"""	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.82-1A>T	16.37:g.66603837A>T						CMTM1_ENST00000328020.6_Splice_Site|CMTM1_ENST00000528324.1_Splice_Site|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000457188.2_Splice_Site|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000332695.7_Intron|CKLF-CMTM1_ENST00000527729.1_Intron		NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)	2	499	+		Ovarian(137;0.0563)						Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Splice_Site	SNP	ENST00000457188.2	37		CCDS45503.1	.	.	.	.	.	.	.	.	.	.	A	15.27	2.784400	0.49997	.	.	ENSG00000089505	ENST00000528324;ENST00000457188;ENST00000379500;ENST00000328020	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7674	0.57399	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CMTM1	65161338	0.999000	0.42202	0.517000	0.27799	0.163000	0.22366	4.315000	0.59172	2.270000	0.75569	0.460000	0.39030	.		0.323	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2	NM_052999	Intron	31	57	0	0	0	0.009535	0	31	57				
LOC101927079	101927079	broad.mit.edu	37	15	22332432	22332432	+	RNA	SNP	C	C	T	rs376977769		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr15:22332432C>T	ENST00000558896.1	+	0	239																											AAGATTCTAACGTGACAGAAC	0.343																																						ENST00000558896.1																			0																																																			101927079							g.chr15:22332432C>T																													15.37:g.22332432C>T														0	239	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.343	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			4	26	0	0	0	0.009096	0	4	26				
PCDH11X	27328	broad.mit.edu	37	X	91090459	91090459	+	5'UTR	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chrX:91090459G>T	ENST00000373094.1	+	0	801				PCDH11X_ENST00000373097.1_5'UTR|PCDH11X_ENST00000395337.2_Splice_Site|PCDH11X_ENST00000373088.1_5'Flank|PCDH11X_ENST00000504220.2_5'Flank|PCDH11X_ENST00000406881.1_5'Flank|PCDH11X_ENST00000298274.8_5'Flank|PCDH11X_ENST00000361655.2_5'Flank|PCDH11X_ENST00000361724.1_5'UTR	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked						homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTTTTGGTCAGTGTTGTGCGG	0.403																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000395337.2																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.e4-1		protocadherin 11 X-linked							86.0	80.0	82.0					X																	91090459		2203	4300	6503	SO:0001623	5_prime_UTR_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090459G>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.-45G>T	X.37:g.91090459G>T						PCDH11X_ENST00000373097.1_5'UTR|PCDH11X_ENST00000361724.1_5'UTR|PCDH11X_ENST00000373094.1_5'UTR		NM_032967.2	NP_116749.1	Q9BZA7	PC11X_HUMAN			4	589	+								A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Splice_Site	SNP	ENST00000373094.1	37		CCDS14461.1																																																																																				0.403	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		38	11	1	0	1.96642e-18	0.006999	2.89381e-18	38	11				
STK10	6793	broad.mit.edu	37	5	171488156	171488156	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:171488156C>A	ENST00000176763.5	-	14	2542	c.2199G>T	c.(2197-2199)caG>caT	p.Q733H		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	733					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAAGGAGCTCCTGCTTCTTCA	0.617																																						ENST00000176763.5																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(2197-2199)caG>caT		serine/threonine kinase 10							165.0	145.0	152.0					5																	171488156		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171488156C>A	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2199G>T	5.37:g.171488156C>A	ENSP00000176763:p.Gln733His						p.Q733H	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		14	2542	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	733					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.2199G>T	CCDS34290.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.33|10.33	1.321700|1.321700	0.23994|0.23994	.|.	.|.	ENSG00000072786|ENSG00000072786	ENST00000176763;ENST00000545839|ENST00000520476	T|.	0.70164|.	-0.46|.	5.12|5.12	4.05|4.05	0.47172|0.47172	.|.	0.127933|.	0.56097|.	D|.	0.000038|.	T|T	0.51618|0.51618	0.1685|0.1685	L|L	0.28776|0.28776	0.89|0.89	0.46823|0.46823	D|D	0.999219|0.999219	B|.	0.15473|.	0.013|.	B|.	0.20577|.	0.03|.	T|T	0.44436|0.44436	-0.9328|-0.9328	10|5	0.44086|.	T|.	0.13|.	.|.	11.7784|11.7784	0.51999|0.51999	0.0:0.8981:0.0:0.1019|0.0:0.8981:0.0:0.1019	.|.	733|.	O94804|.	STK10_HUMAN|.	H|M	733|6	ENSP00000176763:Q733H|.	ENSP00000176763:Q733H|.	Q|R	-|-	3|2	2|0	STK10|STK10	171420761|171420761	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.702000|0.702000	0.40608|0.40608	0.495000|0.495000	0.22483|0.22483	2.368000|2.368000	0.80403|0.80403	0.555000|0.555000	0.69702|0.69702	CAG|AGG		0.617	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		71	140	1	0	9.12251e-31	0.014410	1.45701e-30	71	140				
AOX1	316	broad.mit.edu	37	2	201468754	201468754	+	Silent	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:201468754C>G	ENST00000374700.2	+	8	844	c.603C>G	c.(601-603)ctC>ctG	p.L201L		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	201					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.L201L(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTCCAAAACTCTTCGCAGAAG	0.383																																						ENST00000374700.2																			1	Substitution - coding silent(1)	p.L201L(1)	urinary_tract(1)	breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(601-603)ctC>ctG		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						71.0	70.0	71.0					2																	201468754		2203	4300	6503	SO:0001819	synonymous_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201468754C>G	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.603C>G	2.37:g.201468754C>G							p.L201L	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			8	844	+			201					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.603C>G	CCDS33360.1																																																																																				0.383	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		32	30	0	0	0	0.013726	0	32	30				
PPP1R9A	55607	broad.mit.edu	37	7	94791279	94791279	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:94791279G>A	ENST00000433881.1	+	5	2282	c.1750G>A	c.(1750-1752)Gtc>Atc	p.V584I	AC002429.5_ENST00000417881.2_RNA|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.V584I|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.V584I|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.V584I|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.V584I|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.V584I			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	584	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAAGGGCAACGTCAGGTAAAT	0.363										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(1750-1752)Gtc>Atc		protein phosphatase 1, regulatory subunit 9A							100.0	86.0	90.0					7																	94791279		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94791279G>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1750G>A	7.37:g.94791279G>A	ENSP00000398870:p.Val584Ile	HNSCC(28;0.073)				AC002429.5_ENST00000417881.2_RNA|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.V584I|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.V584I|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.V584I|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.V584I|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.V584I	p.V584I	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		4	1966	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		584			PDZ.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.1750G>A	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	31	5.091302	0.94149	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	4.85	4.85	0.62838	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.50377	0.1612	L	0.48877	1.53	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.998	D;D;D;D;D	0.85130	0.99;0.997;0.983;0.991;0.989	T	0.51379	-0.8713	10	0.87932	D	0	.	17.6008	0.88024	0.0:0.0:1.0:0.0	.	584;584;584;584;584	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	I	584	ENSP00000405514:V584I;ENSP00000344524:V584I;ENSP00000411342:V584I;ENSP00000398870:V584I;ENSP00000289495:V584I;ENSP00000402893:V584I	ENSP00000289495:V584I	V	+	1	0	PPP1R9A	94629215	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.335000	0.96500	2.634000	0.89283	0.591000	0.81541	GTC		0.363	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		5	3	0	0	0	0.001168	0	5	3				
CNKSR2	22866	broad.mit.edu	37	X	21627262	21627262	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chrX:21627262C>G	ENST00000379510.3	+	20	2255	c.2219C>G	c.(2218-2220)tCt>tGt	p.S740C	CNKSR2_ENST00000279451.4_Missense_Mutation_p.S740C|CNKSR2_ENST00000425654.2_Missense_Mutation_p.S710C|CNKSR2_ENST00000543067.1_Missense_Mutation_p.S691C	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	740					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CAGTCTCAGTCTTCTCATGAG	0.517																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2128-2130)tCt>tGt		connector enhancer of kinase suppressor of Ras 2							68.0	67.0	68.0					X																	21627262		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627262C>G	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2219C>G	X.37:g.21627262C>G	ENSP00000368824:p.Ser740Cys					CNKSR2_ENST00000543067.1_Missense_Mutation_p.S691C|CNKSR2_ENST00000279451.4_Missense_Mutation_p.S740C|CNKSR2_ENST00000379510.3_Missense_Mutation_p.S740C	p.S710C	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	2609	+			740					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.2129C>G	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923821	0.73213	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.35421	1.31;1.62;1.69;1.51	5.63	5.63	0.86233	.	0.099026	0.64402	D	0.000001	T	0.62853	0.2462	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	T	0.65278	-0.6207	10	0.59425	D	0.04	-26.1172	18.6498	0.91427	0.0:1.0:0.0:0.0	.	710;691;332;740	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	C	710;691;740;740	ENSP00000397906:S710C;ENSP00000444633:S691C;ENSP00000279451:S740C;ENSP00000368824:S740C	ENSP00000279451:S740C	S	+	2	0	CNKSR2	21537183	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.348000	0.79779	0.594000	0.82650	TCT		0.517	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		34	10	0	0	0	0.003271	0	34	10				
PRSS37	136242	broad.mit.edu	37	7	141536336	141536336	+	Splice_Site	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:141536336C>A	ENST00000350549.3	-	5	939		c.e5-1		PRSS37_ENST00000438520.1_Splice_Site	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37						binding of sperm to zona pellucida (GO:0007339)|cell migration (GO:0016477)|protein maturation (GO:0051604)	extracellular region (GO:0005576)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						CGGCCACCTCCTACCGGAGAT	0.547																																						ENST00000350549.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						c.e5-1		protease, serine, 37							90.0	75.0	80.0					7																	141536336		2203	4300	6503	SO:0001630	splice_region_variant	136242				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141536336C>A		CCDS34764.1	7q34	2010-05-07			ENSG00000165076	ENSG00000165076		"""Serine peptidases / Serine peptidases"""	29211	protein-coding gene	gene with protein product							Standard	NM_001008270		Approved		uc003vws.2	A4D1T9	OTTHUMG00000157174	ENST00000350549.3:c.568-1G>T	7.37:g.141536336C>A						PRSS37_ENST00000438520.1_Splice_Site		NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN			5	939	-								B2RPB5	Splice_Site	SNP	ENST00000350549.3	37		CCDS34764.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363019	0.61403	.	.	ENSG00000165076	ENST00000350549;ENST00000438520	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.505	0.67746	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRSS37	141182805	0.211000	0.23529	0.998000	0.56505	0.760000	0.43138	2.025000	0.41059	2.808000	0.96608	0.585000	0.79938	.		0.547	PRSS37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347763.1	NM_001008270	Intron	12	4	1	0	6.40141e-05	0.010729	7.70456e-05	12	4				
ZNF226	7769	broad.mit.edu	37	19	44680226	44680226	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:44680226C>T	ENST00000590089.1	+	7	1178	c.811C>T	c.(811-813)Cag>Tag	p.Q271*	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Nonsense_Mutation_p.Q271*|ZNF226_ENST00000337433.5_Nonsense_Mutation_p.Q271*			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	271					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				TGATCTTCATCAGCAGTTACA	0.423																																					Pancreas(115;581 1665 13228 19278 50070)	ENST00000590089.1																			0											c.(811-813)Cag>Tag		zinc finger protein 226							61.0	59.0	60.0					19																	44680226		2006	4208	6214	SO:0001587	stop_gained	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44680226C>T	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.811C>T	19.37:g.44680226C>T	ENSP00000465121:p.Gln271*					ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Nonsense_Mutation_p.Q271*|ZNF226_ENST00000337433.5_Nonsense_Mutation_p.Q271*	p.Q271*			Q9NYT6	ZN226_HUMAN			7	1178	+		Prostate(69;0.0352)|all_neural(266;0.202)	271					Q8WWE6|Q96TE6|Q9NS44	Nonsense_Mutation	SNP	ENST00000590089.1	37	c.811C>T	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.729242	0.89390	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	.	.	.	3.95	1.74	0.24563	.	0.728031	0.10785	N	0.634482	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	11.737	0.51771	0.3037:0.6963:0.0:0.0	.	.	.	.	X	271	.	ENSP00000336719:Q271X	Q	+	1	0	ZNF226	49372066	0.001000	0.12720	0.007000	0.13788	0.939000	0.58152	0.785000	0.26830	0.427000	0.26145	0.655000	0.94253	CAG		0.423	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			23	42	0	0	0	0.012319	0	23	42				
DOCK9	23348	broad.mit.edu	37	13	99452600	99452600	+	Missense_Mutation	SNP	G	G	A	rs368761374		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr13:99452600G>A	ENST00000376460.1	-	53	5980	c.5900C>T	c.(5899-5901)tCg>tTg	p.S1967L	DOCK9_ENST00000339416.2_Missense_Mutation_p.S1954L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1968	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CACCTCGGCCGAGGAGCACAG	0.612																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(5899-5901)tCg>tTg		dedicator of cytokinesis 9		G	LEU/SER,LEU/SER	0,4300		0,0,2150	43.0	46.0	45.0		5903,5900	4.5	1.0	13		45	1,8525		0,1,4262	no	missense,missense	DOCK9	NM_015296.2,NM_001130048.1	145,145	0,1,6412	AA,AG,GG		0.0117,0.0,0.0078	benign,benign	1968/2070,1967/2069	99452600	1,12825	2150	4263	6413	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99452600G>A	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.5900C>T	13.37:g.99452600G>A	ENSP00000365643:p.Ser1967Leu					DOCK9_ENST00000339416.2_Missense_Mutation_p.S1954L	p.S1967L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			53	5980	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1968			DHR-2.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.5900C>T	CCDS45062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.70|17.70	3.455214|3.455214	0.63401|0.63401	0.0|0.0	1.17E-4|1.17E-4	ENSG00000088387|ENSG00000088387	ENST00000419908|ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000376453	.|T;T	.|0.18657	.|2.2;2.2	5.32|5.32	4.46|4.46	0.54185|0.54185	.|.	.|0.261299	.|0.39909	.|N	.|0.001225	T|T	0.23492|0.23492	0.0568|0.0568	M|M	0.69185|0.69185	2.1|2.1	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B	.|0.17038	.|0.001;0.003;0.014;0.02;0.018;0.001	.|B;B;B;B;B;B	.|0.17098	.|0.003;0.007;0.01;0.017;0.006;0.004	T|T	0.04386|0.04386	-1.0955|-1.0955	5|10	.|0.54805	.|T	.|0.06	.|.	9.5925|9.5925	0.39554|0.39554	0.0741:0.1434:0.7826:0.0|0.0741:0.1434:0.7826:0.0	.|.	.|673;586;1967;1968;623;585	.|B7Z6H5;B7Z2J2;Q9BZ29-5;Q9BZ29;B7Z6G9;F5H1Q4	.|.;.;.;DOCK9_HUMAN;.;.	W|L	371|1967;1968;1960;1945;1967;875;1954;585	.|ENSP00000365643:S1967L;ENSP00000341086:S1954L	.|ENSP00000341086:S1954L	R|S	-|-	1|2	2|0	DOCK9|DOCK9	98250601|98250601	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.992000|0.992000	0.81027|0.81027	5.974000|5.974000	0.70465|0.70465	1.332000|1.332000	0.45431|0.45431	0.561000|0.561000	0.74099|0.74099	CGG|TCG		0.612	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		11	21	0	0	0	0.010729	0	11	21				
BNC1	646	broad.mit.edu	37	15	83926817	83926817	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr15:83926817C>T	ENST00000345382.2	-	5	2447	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	BNC1_ENST00000569704.1_Missense_Mutation_p.E781K|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	788					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AAATGATCTTCACTACTCTCC	0.458																																						ENST00000345382.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(2362-2364)Gaa>Aaa		basonuclin 1							152.0	137.0	142.0					15																	83926817		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83926817C>T	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2362G>A	15.37:g.83926817C>T	ENSP00000307041:p.Glu788Lys					RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.E781K	p.E788K	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN			5	2447	-			788					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.2362G>A	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	6.558	0.471321	0.12461	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.43294	0.95	5.08	5.08	0.68730	.	0.281001	0.38436	N	0.001693	T	0.17408	0.0418	N	0.14661	0.345	0.30312	N	0.788454	B;P	0.38922	0.041;0.651	B;B	0.24974	0.019;0.057	T	0.15407	-1.0438	10	0.06099	T	0.92	-23.9829	10.9024	0.47059	0.0:0.9133:0.0:0.0867	.	781;788	F5GY04;Q01954	.;BNC1_HUMAN	K	788;781	ENSP00000307041:E788K	ENSP00000307041:E788K	E	-	1	0	BNC1	81717821	1.000000	0.71417	0.939000	0.37840	0.403000	0.30841	3.290000	0.51755	2.642000	0.89623	0.467000	0.42956	GAA		0.458	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		36	63	0	0	0	0.005524	0	36	63				
CDH9	1007	broad.mit.edu	37	5	26885803	26885803	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:26885803G>T	ENST00000231021.4	-	11	1974	c.1802C>A	c.(1801-1803)aCc>aAc	p.T601N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	601	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GGCTTCTGCGGTGCAGGATTG	0.488																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1801-1803)aCc>aAc		cadherin 9, type 2 (T1-cadherin)							88.0	71.0	77.0					5																	26885803		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26885803G>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1802C>A	5.37:g.26885803G>T	ENSP00000231021:p.Thr601Asn						p.T601N	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			11	1974	-			601			Cadherin 5.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1802C>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	0.285	-0.983929	0.02180	.	.	ENSG00000113100	ENST00000231021	T	0.55234	0.53	5.89	-0.461	0.12172	Cadherin (1);	0.431256	0.29040	N	0.013325	T	0.12008	0.0292	N	0.00217	-1.83	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37865	-0.9687	9	.	.	.	.	6.1086	0.20087	0.0:0.2122:0.2815:0.5063	.	194;601	B4DFP0;Q9ULB4	.;CADH9_HUMAN	N	601	ENSP00000231021:T601N	.	T	-	2	0	CDH9	26921560	0.000000	0.05858	0.021000	0.16686	0.668000	0.39293	-0.279000	0.08479	-0.293000	0.08986	0.563000	0.77884	ACC		0.488	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		6	20	1	0	5.9392e-07	0.001168	7.33154e-07	6	20				
ERV3-1	2086	broad.mit.edu	37	7	64452342	64452342	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:64452342C>A	ENST00000394323.2	-	2	1563	c.1063G>T	c.(1063-1065)Gac>Tac	p.D355Y	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	355						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						cctactgggtctgtaaaggcc	0.433																																						ENST00000394323.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						c.(1063-1065)Gac>Tac									87.0	81.0	83.0					7																	64452342		1872	4099	5971	SO:0001583	missense	2086					virion		g.chr7:64452342C>A	AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"""endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)"", ""endogenous retroviral sequence 3"""	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.1063G>T	7.37:g.64452342C>A	ENSP00000391594:p.Asp355Tyr						p.D355Y	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN			2	1563	-			355						Missense_Mutation	SNP	ENST00000394323.2	37	c.1063G>T	CCDS47595.1	.	.	.	.	.	.	.	.	.	.	.	15.19	2.760030	0.49468	.	.	ENSG00000213462	ENST00000394323	T	0.12465	2.68	0.109	0.109	0.14578	.	.	.	.	.	T	0.08358	0.0208	N	0.08118	0	0.22996	N	0.998451	D	0.58268	0.982	P	0.47786	0.557	T	0.28202	-1.0051	8	0.52906	T	0.07	.	.	.	.	.	355	Q14264	ENR1_HUMAN	Y	355	ENSP00000391594:D355Y	ENSP00000391594:D355Y	D	-	1	0	ERV3-1	64089777	0.963000	0.33076	0.890000	0.34922	0.891000	0.51852	0.195000	0.17155	0.181000	0.19994	0.184000	0.17185	GAC		0.433	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381468.1	NM_001007253		13	31	1	0	3.03607e-14	0.013537	4.22792e-14	13	31				
LINC00969	440993	broad.mit.edu	37	3	195410687	195410687	+	lincRNA	SNP	T	T	A	rs6583274	byFrequency	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884									long intergenic non-protein coding RNA 969																		CCCTTTGAGGTGCACTGGAGG	0.567													.|||	701	0.139976	0.0552	0.1571	5008	,	,		36746	0.1855		0.16	False		,,,				2504	0.1748					ENST00000445430.1																			0																																																			440993							g.chr3:195410687T>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410687T>A														0	1884	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.567	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	33	0	0	0	0.009096	0	3	33				
CEP72	55722	broad.mit.edu	37	5	637653	637653	+	Missense_Mutation	SNP	C	C	T	rs143077618		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:637653C>T	ENST00000264935.5	+	7	1016	c.926C>T	c.(925-927)tCg>tTg	p.S309L	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	309					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			ACCGAGGACTCGGCCTCTTCT	0.527																																						ENST00000264935.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(925-927)tCg>tTg		centrosomal protein 72kDa		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	65.0	68.0	67.0		926	-0.3	0.0	5	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEP72	NM_018140.3	145	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	309/648	637653	2,13004	2203	4300	6503	SO:0001583	missense	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:637653C>T	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.926C>T	5.37:g.637653C>T	ENSP00000264935:p.Ser309Leu					CEP72_ENST00000444221.1_3'UTR	p.S309L	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		7	1016	+			309					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	c.926C>T	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437677	0.43224	2.27E-4	1.16E-4	ENSG00000112877	ENST00000264935	T	0.09911	2.93	4.76	-0.313	0.12754	.	1.455160	0.03929	N	0.284931	T	0.11965	0.0291	L	0.54323	1.7	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.35895	-0.9770	10	0.49607	T	0.09	-0.0644	4.632	0.12506	0.0:0.4549:0.1633:0.3818	.	309	Q9P209	CEP72_HUMAN	L	309	ENSP00000264935:S309L	ENSP00000264935:S309L	S	+	2	0	CEP72	690653	0.000000	0.05858	0.000000	0.03702	0.582000	0.36321	0.365000	0.20348	-0.193000	0.10415	0.561000	0.74099	TCG		0.527	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		28	50	0	0	0	0.007291	0	28	50				
ANO5	203859	broad.mit.edu	37	11	22301128	22301128	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:22301128G>T	ENST00000324559.8	+	22	2876	c.2559G>T	c.(2557-2559)atG>atT	p.M853I		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	853					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGCCTGGATGATACCTGATG	0.358																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2557-2559)atG>atT		anoctamin 5							111.0	110.0	110.0					11																	22301128		2203	4299	6502	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22301128G>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2559G>T	11.37:g.22301128G>T	ENSP00000315371:p.Met853Ile						p.M853I	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			22	2876	+			853						Missense_Mutation	SNP	ENST00000324559.8	37	c.2559G>T	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440475	0.43326	.	.	ENSG00000171714	ENST00000324559	T	0.61510	0.1	5.98	5.98	0.97165	.	0.196329	0.64402	D	0.000005	T	0.54224	0.1845	L	0.33624	1.015	0.39317	D	0.965171	B	0.33528	0.416	B	0.43508	0.422	T	0.48779	-0.9005	10	0.18710	T	0.47	.	15.1928	0.73060	0.0:0.0:0.8591:0.1408	.	853	Q75V66	ANO5_HUMAN	I	853	ENSP00000315371:M853I	ENSP00000315371:M853I	M	+	3	0	ANO5	22257704	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.008000	0.63991	2.838000	0.97847	0.655000	0.94253	ATG		0.358	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		17	37	1	0	0.00074312	0.006122	0.000878707	17	37				
NFE2L2	4780	broad.mit.edu	37	2	178098973	178098973	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:178098973C>G	ENST00000397062.3	-	2	626	c.72G>C	c.(70-72)tgG>tgC	p.W24C	NFE2L2_ENST00000464747.1_Missense_Mutation_p.W8C|NFE2L2_ENST00000423513.1_Missense_Mutation_p.W8C|NFE2L2_ENST00000397063.4_Missense_Mutation_p.W8C|NFE2L2_ENST00000446151.2_Missense_Mutation_p.W8C	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	24					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W24C(5)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TATCTTGCCTCCAAAGTATGT	0.348			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		5	Substitution - Missense(5)	p.W24C(5)	lung(3)|oesophagus(2)	central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(70-72)tgG>tgC		nuclear factor, erythroid 2-like 2							56.0	50.0	52.0					2																	178098973		1838	4096	5934	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098973C>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.72G>C	2.37:g.178098973C>G	ENSP00000380252:p.Trp24Cys	HNSCC(56;0.16)				NFE2L2_ENST00000423513.1_Missense_Mutation_p.W8C|NFE2L2_ENST00000397063.4_Missense_Mutation_p.W8C|NFE2L2_ENST00000446151.2_Missense_Mutation_p.W8C|NFE2L2_ENST00000464747.1_Missense_Mutation_p.W8C	p.W24C	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	626	-			24					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.72G>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663565	0.67700	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.998	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	8;8;8;24	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	C	8;24;8;8;8;8;8	ENSP00000380253:W8C;ENSP00000380252:W24C;ENSP00000411575:W8C;ENSP00000391590:W8C;ENSP00000400073:W8C;ENSP00000412191:W8C;ENSP00000410015:W8C	ENSP00000380252:W24C	W	-	3	0	NFE2L2	177807219	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	TGG		0.348	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		19	20	0	0	0	0.006122	0	19	20				
COL6A2	1292	broad.mit.edu	37	21	47552400	47552400	+	Missense_Mutation	SNP	C	C	A	rs376362856		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr21:47552400C>A	ENST00000300527.4	+	28	3098	c.2994C>A	c.(2992-2994)caC>caA	p.H998Q		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	998	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCGTGTTCCACGAGAAGGACT	0.677																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2992-2994)caC>caA		collagen, type VI, alpha 2							53.0	45.0	48.0					21																	47552400		2201	4299	6500	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47552400C>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2994C>A	21.37:g.47552400C>A	ENSP00000300527:p.His998Gln						p.H998Q	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	28	3098	+	Breast(49;0.245)		998			Nonhelical region.|VWFA 3.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2994C>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	6.434	0.448212	0.12223	.	.	ENSG00000142173	ENST00000300527	D	0.82984	-1.67	4.4	-8.81	0.00813	von Willebrand factor, type A (3);	0.286130	0.36703	N	0.002447	T	0.47229	0.1434	N	0.02011	-0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21143	-1.0254	10	0.48119	T	0.1	-9.1877	2.1975	0.03915	0.2099:0.1031:0.3942:0.2928	.	998	P12110	CO6A2_HUMAN	Q	998	ENSP00000300527:H998Q	ENSP00000300527:H998Q	H	+	3	2	COL6A2	46376828	0.163000	0.22920	0.799000	0.32177	0.176000	0.22953	-0.488000	0.06497	-1.867000	0.01144	-0.707000	0.03653	CAC		0.677	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			7	18	1	0	8.12818e-05	0.001984	9.74804e-05	7	18				
ZNF776	284309	broad.mit.edu	37	19	58265188	58265188	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:58265188C>A	ENST00000317178.5	+	3	953	c.690C>A	c.(688-690)ctC>ctA	p.L230L		NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	230					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		AGAGACTTCTCCCTAGAGAAG	0.418																																						ENST00000317178.5																			0				cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(688-690)ctC>ctA		zinc finger protein 776							82.0	82.0	82.0					19																	58265188		2203	4300	6503	SO:0001819	synonymous_variant	284309							g.chr19:58265188C>A	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.690C>A	19.37:g.58265188C>A							p.L230L	NM_173632.3	NP_775903.3				UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	3	953	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)						Q6ZS36|Q8N968	Silent	SNP	ENST00000317178.5	37	c.690C>A	CCDS12962.2																																																																																				0.418	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632		38	69	1	0	1.04594e-18	0.006230	1.54597e-18	38	69				
OR6K2	81448	broad.mit.edu	37	1	158669597	158669597	+	Missense_Mutation	SNP	C	C	G	rs141159720	byFrequency	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:158669597C>G	ENST00000359610.2	-	1	889	c.846G>C	c.(844-846)ttG>ttC	p.L282F		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGAAGGGAGACAAAACTGCAA	0.403																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(844-846)ttG>ttC		olfactory receptor, family 6, subfamily K, member 2							99.0	95.0	96.0					1																	158669597		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669597C>G	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.846G>C	1.37:g.158669597C>G	ENSP00000352626:p.Leu282Phe						p.L282F	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	889	-	all_hematologic(112;0.0378)		282					B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.846G>C	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734427	0.30774	.	.	ENSG00000196171	ENST00000359610	T	0.00202	8.56	4.94	0.778	0.18543	GPCR, rhodopsin-like superfamily (1);	0.526437	0.14024	N	0.346593	T	0.00073	0.0002	L	0.60455	1.87	0.09310	N	1	B	0.29671	0.254	B	0.41202	0.35	T	0.29941	-0.9995	10	0.66056	D	0.02	-7.6189	3.3173	0.07038	0.1399:0.5727:0.1359:0.1515	.	282	Q8NGY2	OR6K2_HUMAN	F	282	ENSP00000352626:L282F	ENSP00000352626:L282F	L	-	3	2	OR6K2	156936221	0.000000	0.05858	0.087000	0.20705	0.912000	0.54170	-1.640000	0.02009	-0.019000	0.14055	0.655000	0.94253	TTG		0.403	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		10	29	0	0	0	0.006214	0	10	29				
DAB2	1601	broad.mit.edu	37	5	39376143	39376143	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:39376143C>G	ENST00000320816.6	-	13	2670	c.2203G>C	c.(2203-2205)Gag>Cag	p.E735Q	DAB2_ENST00000509337.1_Missense_Mutation_p.E714Q|DAB2_ENST00000339788.6_Missense_Mutation_p.E517Q|DAB2_ENST00000545653.1_Missense_Mutation_p.E714Q	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	735	Required for interaction with MYO6. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AAAGGGTTCTCAAATGCATTG	0.418																																						ENST00000545653.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47						c.(2140-2142)Gag>Cag		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)							106.0	107.0	107.0					5																	39376143		2203	4300	6503	SO:0001583	missense	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39376143C>G	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.2203G>C	5.37:g.39376143C>G	ENSP00000313391:p.Glu735Gln					DAB2_ENST00000339788.6_Missense_Mutation_p.E517Q|DAB2_ENST00000509337.1_Missense_Mutation_p.E714Q|DAB2_ENST00000320816.6_Missense_Mutation_p.E735Q	p.E714Q	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Epithelial(62;0.137)		12	2670	-	all_lung(31;0.000197)		735			Required for interaction with MYO6 (By similarity).		A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.2140G>C	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580270	0.86645	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.38401	1.15;1.15;1.14;1.14	5.76	5.76	0.90799	.	0.100157	0.64402	D	0.000002	T	0.59362	0.2188	L	0.60455	1.87	0.38683	D	0.952588	D;D	0.89917	0.999;1.0	D;D	0.74023	0.943;0.982	T	0.61729	-0.7003	10	0.72032	D	0.01	-16.9775	19.967	0.97274	0.0:1.0:0.0:0.0	.	735;714	P98082;P98082-3	DAB2_HUMAN;.	Q	735;517;714;714	ENSP00000313391:E735Q;ENSP00000345508:E517Q;ENSP00000439919:E714Q;ENSP00000426245:E714Q	ENSP00000313391:E735Q	E	-	1	0	DAB2	39411900	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.044000	0.64214	2.714000	0.92807	0.655000	0.94253	GAG		0.418	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		19	36	0	0	0	0.008871	0	19	36				
SDCCAG3	10807	broad.mit.edu	37	9	139301763	139301763	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr9:139301763G>A	ENST00000357365.3	-	5	782	c.653C>T	c.(652-654)cCg>cTg	p.P218L	SDCCAG3_ENST00000298537.7_Missense_Mutation_p.P195L|SDCCAG3_ENST00000371725.3_Missense_Mutation_p.P145L|SDCCAG3_ENST00000461693.1_5'Flank	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	218						cytoplasm (GO:0005737)		p.P218L(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CAGCTCCGACGGGGTGGAGAA	0.657																																						ENST00000298537.7																			1	Substitution - Missense(1)	p.P218L(1)	endometrium(1)	NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16						c.(583-585)cCg>cTg		serologically defined colon cancer antigen 3							17.0	20.0	19.0					9																	139301763		2061	4180	6241	SO:0001583	missense	10807					cytoplasm		g.chr9:139301763G>A	AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.653C>T	9.37:g.139301763G>A	ENSP00000349929:p.Pro218Leu					SDCCAG3_ENST00000371725.3_Missense_Mutation_p.P145L|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.P218L	p.P195L	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)	4	795	-		Myeloproliferative disorder(178;0.0511)	218					A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Missense_Mutation	SNP	ENST00000357365.3	37	c.584C>T	CCDS43904.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025101	0.35701	.	.	ENSG00000165689	ENST00000357365;ENST00000298537;ENST00000371725;ENST00000371723	T;T;T;T	0.34667	2.43;2.49;2.47;1.35	5.29	5.29	0.74685	.	0.287890	0.38720	N	0.001587	T	0.33876	0.0878	L	0.56769	1.78	0.26509	N	0.974639	P;P;P	0.50066	0.931;0.931;0.931	B;B;B	0.37267	0.245;0.245;0.245	T	0.40156	-0.9578	10	0.36615	T	0.2	-8.2488	16.4217	0.83760	0.0:0.0:1.0:0.0	.	145;195;218	Q96C92-4;Q96C92-2;Q96C92	.;.;SDCG3_HUMAN	L	218;195;145;168	ENSP00000349929:P218L;ENSP00000298537:P195L;ENSP00000360790:P145L;ENSP00000360788:P168L	ENSP00000298537:P195L	P	-	2	0	SDCCAG3	138421584	0.852000	0.29690	0.152000	0.22495	0.017000	0.09413	5.154000	0.64894	2.449000	0.82847	0.655000	0.94253	CCG		0.657	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055060.2	NM_006643		11	8	0	0	0	0.010729	0	11	8				
HTR2A	3356	broad.mit.edu	37	13	47409480	47409480	+	Missense_Mutation	SNP	G	G	A	rs192924120		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr13:47409480G>A	ENST00000378688.4	-	3	1039	c.908C>T	c.(907-909)cCa>cTa	p.P303L	HTR2A_ENST00000542664.1_Missense_Mutation_p.P303L|HTR2A_ENST00000543956.1_Missense_Mutation_p.P219L			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	303					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.P303Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GTAGGACCCTGGCTCCCTATG	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		20344	0.0		0.001	False		,,,				2504	0.0					ENST00000378688.4																			1	Substitution - Missense(1)	p.P303Q(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(907-909)cCa>cTa		5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						106.0	88.0	94.0					13																	47409480		2203	4300	6503	SO:0001583	missense	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47409480G>A	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.908C>T	13.37:g.47409480G>A	ENSP00000367959:p.Pro303Leu					HTR2A_ENST00000543956.1_Missense_Mutation_p.P219L|HTR2A_ENST00000542664.1_Missense_Mutation_p.P303L	p.P303L			P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	3	1039	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	303					B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	c.908C>T	CCDS9405.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.486	1.099334	0.20552	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.34667	1.35;1.35;1.35	5.87	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.433239	0.25666	N	0.029110	T	0.19127	0.0459	N	0.11756	0.17	0.27931	N	0.937877	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.07578	-1.0765	10	0.23302	T	0.38	.	9.2039	0.37278	0.2018:0.0:0.7982:0.0	.	219;303	F5GWE8;P28223	.;5HT2A_HUMAN	L	303;219;303	ENSP00000367959:P303L;ENSP00000441861:P219L;ENSP00000437737:P303L	ENSP00000367959:P303L	P	-	2	0	HTR2A	46307481	0.151000	0.22747	0.942000	0.38095	0.911000	0.54048	1.803000	0.38863	2.941000	0.99782	0.655000	0.94253	CCA		0.517	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		21	29	0	0	0	0.014323	0	21	29				
MGAM	8972	broad.mit.edu	37	7	141755884	141755884	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:141755884A>C	ENST00000549489.2	+	29	3663	c.3568A>C	c.(3568-3570)Agc>Cgc	p.S1190R	MGAM_ENST00000475668.2_Missense_Mutation_p.S1190R	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1190	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTGCTGAACAGCAATGCCAT	0.512																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(3568-3570)Agc>Cgc		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						32.0	31.0	31.0					7																	141755884		1961	4156	6117	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141755884A>C	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3568A>C	7.37:g.141755884A>C	ENSP00000447378:p.Ser1190Arg					MGAM_ENST00000549489.2_Missense_Mutation_p.S1190R	p.S1190R			O43451	MGA_HUMAN			29	3622	+	Melanoma(164;0.0272)		1190			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.3568A>C	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	A	18.77	3.694837	0.68386	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.87179	-2.22	4.11	4.11	0.48088	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.42294	D	0.000736	D	0.95604	0.8571	H	0.97806	4.08	0.43338	D	0.995386	D	0.89917	1.0	D	0.81914	0.995	D	0.96403	0.9298	10	0.87932	D	0	.	12.0707	0.53616	1.0:0.0:0.0:0.0	.	1190	O43451	MGA_HUMAN	R	1190;1190;1067	ENSP00000447378:S1190R	ENSP00000316431:S1067R	S	+	1	0	MGAM	141402353	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	8.918000	0.92759	1.486000	0.48398	0.260000	0.18958	AGC		0.512	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			8	3	0	0	0	0.003080	0	8	3				
MMP13	4322	broad.mit.edu	37	11	102818711	102818711	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:102818711C>G	ENST00000260302.3	-	8	1148	c.1120G>C	c.(1120-1122)Ggt>Cgt	p.G374R	MMP13_ENST00000340273.4_Missense_Mutation_p.G374R	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	374	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	TTTGGAAGACCCAGTTCAGAT	0.403																																						ENST00000260302.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(1120-1122)Ggt>Cgt		matrix metallopeptidase 13 (collagenase 3)							105.0	91.0	96.0					11																	102818711		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102818711C>G	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.1120G>C	11.37:g.102818711C>G	ENSP00000260302:p.Gly374Arg					MMP13_ENST00000340273.4_Missense_Mutation_p.G374R	p.G374R	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	8	1148	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	374			Hemopexin-like 2.		A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.1120G>C	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564837	0.86439	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.04317	3.65;3.65	5.82	5.82	0.92795	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	M	0.89904	3.07	0.80722	D	1	D	0.53312	0.959	P	0.60789	0.879	T	0.03875	-1.0996	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	374	P45452	MMP13_HUMAN	R	374	ENSP00000260302:G374R;ENSP00000339672:G374R	ENSP00000260302:G374R	G	-	1	0	MMP13	102323921	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.764000	0.85297	2.752000	0.94435	0.655000	0.94253	GGT		0.403	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		21	13	0	0	0	0.008871	0	21	13				
ATP2C1	27032	broad.mit.edu	37	3	130698095	130698095	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr3:130698095C>T	ENST00000510168.1	+	19	2123	c.1573C>T	c.(1573-1575)Ctt>Ttt	p.L525F	ATP2C1_ENST00000393221.4_Missense_Mutation_p.L559F|ATP2C1_ENST00000513801.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000504381.1_Missense_Mutation_p.L470F|ATP2C1_ENST00000428331.2_Missense_Mutation_p.L525F|ATP2C1_ENST00000505330.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000508532.1_Missense_Mutation_p.L525F|ATP2C1_ENST00000328560.8_Missense_Mutation_p.L525F|ATP2C1_ENST00000533801.2_Missense_Mutation_p.L520F|ATP2C1_ENST00000359644.3_Missense_Mutation_p.L525F|ATP2C1_ENST00000504948.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000507488.2_Missense_Mutation_p.L509F|ATP2C1_ENST00000422190.2_Missense_Mutation_p.L525F			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	525					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTCCTAAGTTCTTGCTTTGGC	0.373									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.(1573-1575)Ctt>Ttt		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						106.0	105.0	105.0					3																	130698095		2203	4300	6503	SO:0001583	missense	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130698095C>T	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1573C>T	3.37:g.130698095C>T	ENSP00000427461:p.Leu525Phe					ATP2C1_ENST00000422190.2_Missense_Mutation_p.L525F|ATP2C1_ENST00000508532.1_Missense_Mutation_p.L525F|ATP2C1_ENST00000533801.2_Missense_Mutation_p.L520F|ATP2C1_ENST00000328560.8_Missense_Mutation_p.L525F|ATP2C1_ENST00000505330.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000507488.2_Missense_Mutation_p.L509F|ATP2C1_ENST00000504948.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000504381.1_Missense_Mutation_p.L470F|ATP2C1_ENST00000428331.2_Missense_Mutation_p.L525F|ATP2C1_ENST00000513801.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000393221.4_Missense_Mutation_p.L559F|ATP2C1_ENST00000359644.3_Missense_Mutation_p.L525F	p.L525F			P98194	AT2C1_HUMAN			19	2123	+			525					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.1573C>T	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698731	0.88830	.	.	ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97209	-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29	5.89	5.89	0.94794	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.134244	0.52532	D	0.000071	D	0.98899	0.9627	H	0.95950	3.745	0.80722	D	1	D;D;P;D;P;D;D	0.65815	0.995;0.988;0.75;0.99;0.848;0.983;0.986	D;D;P;D;P;P;D	0.68192	0.927;0.931;0.732;0.927;0.732;0.844;0.956	D	0.99312	1.0904	10	0.72032	D	0.01	.	15.0262	0.71671	0.1422:0.8578:0.0:0.0	.	559;520;559;525;559;525;525	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.;.;.;.;.;.;AT2C1_HUMAN	F	509;470;509;559;520;525;525;509;509;525;525;525;525;524	ENSP00000423774:L509F;ENSP00000425320:L470F;ENSP00000421326:L509F;ENSP00000376914:L559F;ENSP00000432956:L520F;ENSP00000427461:L525F;ENSP00000424783:L525F;ENSP00000423330:L509F;ENSP00000422872:L509F;ENSP00000329664:L525F;ENSP00000395809:L525F;ENSP00000352665:L525F;ENSP00000402677:L525F	ENSP00000329664:L525F	L	+	1	0	ATP2C1	132180785	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.849000	0.55910	2.783000	0.95769	0.655000	0.94253	CTT		0.373	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		8	164	0	0	0	0.003080	0	8	164				
EDF1	8721	broad.mit.edu	37	9	139754408	139754408	+	IGR	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr9:139754408G>A	ENST00000224073.1	-	0	640				MAMDC4_ENST00000317446.2_Silent_p.V1088V|MAMDC4_ENST00000445819.1_Silent_p.V1167V|MAMDC4_ENST00000485732.1_3'UTR	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1						endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TGCTCCTGGTGCTGCTGGGAC	0.627																																						ENST00000445819.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(3499-3501)gtG>gtA		MAM domain containing 4							61.0	60.0	60.0					9																	139754408		2198	4300	6498	SO:0001628	intergenic_variant	158056				protein transport	integral to membrane		g.chr9:139754408G>A	AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"""multiprotein bridging factor-1"""	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948		9.37:g.139754408G>A						MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.V1088V	p.V1167V			Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	28	3551	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	1167					Q5T5T2|Q9UIM1	Silent	SNP	ENST00000224073.1	37	c.3501G>A	CCDS7011.1	.	.	.	.	.	.	.	.	.	.	.	10.91	1.485233	0.26598	.	.	ENSG00000177943	ENST00000413647	.	.	.	4.77	0.807	0.18714	.	.	.	.	.	T	0.50990	0.1648	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34428	-0.9829	4	.	.	.	-8.5702	5.089	0.14698	0.2433:0.282:0.4746:0.0	.	.	.	.	T	1153	.	.	A	+	1	0	MAMDC4	138874229	0.000000	0.05858	0.714000	0.30535	0.974000	0.67602	-0.285000	0.08410	-0.047000	0.13423	0.561000	0.74099	GCT		0.627	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055143.1			24	29	0	0	0	0.003954	0	24	29				
MORC1	27136	broad.mit.edu	37	3	108778707	108778707	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr3:108778707T>G	ENST00000483760.1	-	12	1020	c.977A>C	c.(976-978)cAg>cCg	p.Q326P	MORC1_ENST00000232603.5_Missense_Mutation_p.Q326P					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CAAAGCTCTCTGTAATACATC	0.358																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(976-978)cAg>cCg		MORC family CW-type zinc finger 1							136.0	120.0	125.0					3																	108778707		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108778707T>G	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.977A>C	3.37:g.108778707T>G	ENSP00000417282:p.Gln326Pro					MORC1_ENST00000483760.1_Missense_Mutation_p.Q326P	p.Q326P	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			12	1059	-			326						Missense_Mutation	SNP	ENST00000483760.1	37	c.977A>C		.	.	.	.	.	.	.	.	.	.	T	13.59	2.281695	0.40394	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06218	3.33;3.34	5.02	-0.263	0.12954	.	0.730120	0.11841	N	0.524317	T	0.10937	0.0267	M	0.63428	1.95	0.28472	N	0.915364	D;D	0.67145	0.996;0.965	P;P	0.53649	0.731;0.579	T	0.20075	-1.0286	10	0.30854	T	0.27	0.2174	4.4622	0.11671	0.0:0.1764:0.3261:0.4975	.	326;326	E7ERX1;Q86VD1	.;MORC1_HUMAN	P	326	ENSP00000232603:Q326P;ENSP00000417282:Q326P	ENSP00000232603:Q326P	Q	-	2	0	MORC1	110261397	1.000000	0.71417	0.565000	0.28409	0.946000	0.59487	0.630000	0.24553	-0.173000	0.10761	0.528000	0.53228	CAG		0.358	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			7	51	0	0	0	0.003080	0	7	51				
LRRK1	79705	broad.mit.edu	37	15	101567909	101567909	+	Missense_Mutation	SNP	G	G	T	rs202089769		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr15:101567909G>T	ENST00000388948.3	+	19	2952	c.2593G>T	c.(2593-2595)Gac>Tac	p.D865Y	LRRK1_ENST00000284395.5_Missense_Mutation_p.D862Y	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGCCGGGACGACGACGTGCA	0.662																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(2584-2586)Gac>Tac		leucine-rich repeat kinase 1							25.0	35.0	32.0					15																	101567909		2159	4265	6424	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101567909G>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2593G>T	15.37:g.101567909G>T	ENSP00000373600:p.Asp865Tyr					LRRK1_ENST00000388948.3_Missense_Mutation_p.D865Y	p.D862Y			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		20	2984	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		865						Missense_Mutation	SNP	ENST00000388948.3	37	c.2584G>T	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788508	0.70337	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.73897	-0.77;-0.79	4.35	4.35	0.52113	.	0.064020	0.64402	D	0.000008	D	0.82870	0.5131	M	0.61703	1.905	0.58432	D	0.999995	D	0.69078	0.997	P	0.61722	0.893	D	0.85601	0.1252	10	0.72032	D	0.01	.	17.2497	0.87039	0.0:0.0:1.0:0.0	.	865	Q38SD2	LRRK1_HUMAN	Y	865;862	ENSP00000373600:D865Y;ENSP00000284395:D862Y	ENSP00000284395:D862Y	D	+	1	0	LRRK1	99385432	1.000000	0.71417	0.024000	0.17045	0.854000	0.48673	4.940000	0.63533	2.134000	0.65973	0.563000	0.77884	GAC		0.662	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		12	7	1	0	7.93312e-07	0.002450	9.75716e-07	12	7				
MYH4	4622	broad.mit.edu	37	17	10351339	10351339	+	Silent	SNP	G	G	A	rs377587438		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr17:10351339G>A	ENST00000255381.2	-	34	4871	c.4761C>T	c.(4759-4761)ctC>ctT	p.L1587L	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1587					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTAGCTGATCGAGTTCTTCAT	0.418																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(4759-4761)ctC>ctT		myosin, heavy chain 4, skeletal muscle		G		1,4405	2.1+/-5.4	0,1,2202	222.0	196.0	205.0		4761	-11.0	0.1	17		205	0,8600		0,0,4300	no	coding-synonymous	MYH4	NM_017533.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1587/1940	10351339	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10351339G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4761C>T	17.37:g.10351339G>A						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.L1587L	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			34	4871	-			1587						Silent	SNP	ENST00000255381.2	37	c.4761C>T	CCDS11154.1																																																																																				0.418	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		6	155	0	0	0	0.003080	0	6	155				
BCRP7	100133163	broad.mit.edu	37	22	18846025	18846025	+	3'UTR	SNP	G	G	C	rs5993363		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr22:18846025G>C	ENST00000412938.1	+	0	3383																											GACGTTGAAGGCTGCCTTCAG	0.647																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18846025G>C																												ENST00000412938.1:c.*3380G>C	22.37:g.18846025G>C														0	3383	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	42	0	0	0	0.001168	0	5	42				
MUC5B	727897	broad.mit.edu	37	11	1263788	1263788	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:1263788C>A	ENST00000529681.1	+	31	5736	c.5678C>A	c.(5677-5679)tCc>tAc	p.S1893Y	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.S1896Y	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1893	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCACCAGCTCCACGGCCACG	0.612																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(5686-5688)tCc>tAc		mucin 5B, oligomeric mucus/gel-forming							82.0	102.0	95.0					11																	1263788		2186	4273	6459	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1263788C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5678C>A	11.37:g.1263788C>A	ENSP00000436812:p.Ser1893Tyr					MUC5B_ENST00000529681.1_Missense_Mutation_p.S1893Y|RP11-532E4.2_ENST00000532061.2_RNA	p.S1896Y			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	5745	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1893			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.5687C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	9.324	1.058790	0.19987	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.18657	2.2;2.39	3.68	-1.5	0.08691	.	.	.	.	.	T	0.20455	0.0492	L	0.50333	1.59	0.09310	N	1	P;P	0.45902	0.868;0.868	B;B	0.42030	0.304;0.373	T	0.21008	-1.0258	9	0.87932	D	0	.	11.194	0.48703	0.0:0.7408:0.1771:0.082	.	2586;1896	A7Y9J9;E9PBJ0	.;.	Y	1893;1896;1894;1963	ENSP00000436812:S1893Y;ENSP00000415793:S1896Y	ENSP00000343037:S1894Y	S	+	2	0	MUC5B	1220364	0.001000	0.12720	0.000000	0.03702	0.040000	0.13550	1.122000	0.31295	-0.221000	0.09973	0.205000	0.17691	TCC		0.612	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		45	81	1	0	1.86633e-21	0.014410	2.84595e-21	45	81				
ZNF560	147741	broad.mit.edu	37	19	9577562	9577562	+	Silent	SNP	G	G	A	rs368872787		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:9577562G>A	ENST00000301480.4	-	10	2274	c.2061C>T	c.(2059-2061)aaC>aaT	p.N687N		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	687					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTCCACATGCGTTACATTCAG	0.373																																						ENST00000301480.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(2059-2061)aaC>aaT		zinc finger protein 560		A		0,4406		0,0,2203	126.0	129.0	128.0		2061	-3.0	0.0	19		128	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous	ZNF560	NM_152476.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		687/791	9577562	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9577562G>A	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.2061C>T	19.37:g.9577562G>A							p.N687N	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			10	2274	-			687					Q495S9|Q495T1	Silent	SNP	ENST00000301480.4	37	c.2061C>T	CCDS12214.1																																																																																				0.373	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		69	111	0	0	0	0.014410	0	69	111				
SLC24A5	283652	broad.mit.edu	37	15	48434437	48434437	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr15:48434437C>T	ENST00000341459.3	+	9	1465	c.1392C>T	c.(1390-1392)gaC>gaT	p.D464D	MYEF2_ENST00000267836.6_3'UTR|SLC24A5_ENST00000449382.2_Silent_p.D404D|MYEF2_ENST00000324324.7_3'UTR	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	464					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		GGAAACTAGACAGAAAGTTGG	0.343																																						ENST00000341459.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1390-1392)gaC>gaT		solute carrier family 24 (sodium/potassium/calcium exchanger), member 5							70.0	74.0	73.0					15																	48434437		2198	4296	6494	SO:0001819	synonymous_variant	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48434437C>T	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.1392C>T	15.37:g.48434437C>T						SLC24A5_ENST00000449382.2_Silent_p.D404D|MYEF2_ENST00000324324.7_3'UTR|MYEF2_ENST00000267836.6_3'UTR	p.D464D	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	9	1465	+		all_lung(180;0.00217)	464					A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Silent	SNP	ENST00000341459.3	37	c.1392C>T	CCDS10128.1																																																																																				0.343	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		40	20	0	0	0	0.006999	0	40	20				
ZNF716	441234	broad.mit.edu	37	7	57529071	57529071	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:57529071G>T	ENST00000420713.1	+	4	1016	c.904G>T	c.(904-906)Ggc>Tgc	p.G302C		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						TGAAGAATGTGGCAAAGCCTT	0.418																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(904-906)Ggc>Tgc		zinc finger protein 716							37.0	37.0	37.0					7																	57529071		692	1591	2283	SO:0001583	missense	441234							g.chr7:57529071G>T	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.904G>T	7.37:g.57529071G>T	ENSP00000394248:p.Gly302Cys						p.G302C	NM_001159279.1	NP_001152751.1					4	1016	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.904G>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276362	0.40294	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.01516	4.81	0.109	0.109	0.14578	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10252	0.0251	M	0.92317	3.295	0.36259	D	0.854405	D	0.89917	1.0	D	0.71184	0.972	T	0.05241	-1.0897	9	0.87932	D	0	.	5.9913	0.19465	6.0E-4:0.0:0.9994:0.0	.	290	A6NP11	ZN716_HUMAN	C	302;290	ENSP00000394248:G302C	ENSP00000387687:G290C	G	+	1	0	ZNF716	57533013	1.000000	0.71417	0.163000	0.22734	0.164000	0.22412	3.850000	0.55918	0.181000	0.19994	0.184000	0.17185	GGC		0.418	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		8	16	1	0	0.00307968	0.003080	0.00360365	8	16				
GRM8	2918	broad.mit.edu	37	7	126544151	126544151	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:126544151T>C	ENST00000339582.2	-	5	1701	c.893A>G	c.(892-894)aAc>aGc	p.N298S	GRM8_ENST00000405249.1_Missense_Mutation_p.N298S|GRM8_ENST00000358373.3_Missense_Mutation_p.N298S|GRM8_ENST00000444921.2_Missense_Mutation_p.N298S|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	298					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CCCACTTTGGTTTAGTTTTTT	0.368										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(892-894)aAc>aGc		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						108.0	102.0	104.0					7																	126544151		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126544151T>C		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.893A>G	7.37:g.126544151T>C	ENSP00000344173:p.Asn298Ser	HNSCC(24;0.065)				GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.N298S|GRM8_ENST00000358373.3_Missense_Mutation_p.N298S|GRM8_ENST00000444921.2_Missense_Mutation_p.N298S	p.N298S			O00222	GRM8_HUMAN			5	1701	-		Prostate(267;0.186)	298					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.893A>G	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.147294	0.77888	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	5.27	5.27	0.74061	Extracellular ligand-binding receptor (1);	0.053377	0.64402	D	0.000001	D	0.91868	0.7426	M	0.89840	3.065	0.58432	D	0.999997	P;P;P	0.46020	0.593;0.75;0.871	B;B;P	0.48952	0.198;0.316;0.596	D	0.93158	0.6555	10	0.62326	D	0.03	.	14.4011	0.67047	0.0:0.0:0.0:1.0	.	298;298;298	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	S	298	ENSP00000344173:N298S;ENSP00000409790:N298S;ENSP00000351142:N298S;ENSP00000385731:N298S	ENSP00000344173:N298S	N	-	2	0	GRM8	126331387	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.939000	0.87685	1.998000	0.58463	0.416000	0.27883	AAC		0.368	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			42	60	0	0	0	0.009718	0	42	60				
DMD	1756	broad.mit.edu	37	X	32328320	32328320	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chrX:32328320G>A	ENST00000357033.4	-	42	6202	c.5996C>T	c.(5995-5997)aCt>aTt	p.T1999I	DMD_ENST00000378677.2_Missense_Mutation_p.T1995I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1999					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGTCAAATAAGTAGAAGGCAC	0.393																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(5995-5997)aCt>aTt		dystrophin							112.0	92.0	99.0					X																	32328320		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32328320G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5996C>T	X.37:g.32328320G>A	ENSP00000354923:p.Thr1999Ile					DMD_ENST00000378677.2_Missense_Mutation_p.T1995I	p.T1999I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			42	6202	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1999					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.5996C>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930724	0.52866	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.61158	0.13;0.13	6.16	6.16	0.99307	.	0.000000	0.38058	U	0.001831	T	0.57272	0.2042	L	0.47716	1.5	0.80722	D	1	B;P;B;B;B	0.48589	0.235;0.912;0.278;0.049;0.049	B;P;B;B;B	0.44394	0.175;0.448;0.268;0.113;0.113	T	0.56189	-0.8020	10	0.39692	T	0.17	.	17.89	0.88869	0.0:0.0:1.0:0.0	.	1991;1999;1995;658;655	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	I	1991;658;655;1995;1999;1999;1876	ENSP00000367948:T1995I;ENSP00000354923:T1999I	ENSP00000354923:T1999I	T	-	2	0	DMD	32238241	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.088000	0.76901	2.614000	0.88457	0.594000	0.82650	ACT		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		21	7	0	0	0	0.010504	0	21	7				
GLUD1	2746	broad.mit.edu	37	10	88836358	88836358	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr10:88836358C>T	ENST00000277865.4	-	2	597	c.501G>A	c.(499-501)ctG>ctA	p.L167L	GLUD1_ENST00000537649.1_5'UTR|GLUD1_ENST00000544149.1_Silent_p.L34L	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	167					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	TGTATGTCATCAGAGAAGCCA	0.413																																						ENST00000277865.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22						c.(499-501)ctG>ctA		glutamate dehydrogenase 1	L-Glutamic Acid(DB00142)|NADH(DB00157)						118.0	103.0	108.0					10																	88836358		2203	4300	6503	SO:0001819	synonymous_variant	2746				glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	g.chr10:88836358C>T	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.501G>A	10.37:g.88836358C>T						GLUD1_ENST00000537649.1_5'UTR|GLUD1_ENST00000544149.1_Silent_p.L34L	p.L167L	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN			2	597	-			167					B3KV55|B4DGN5|Q5TBU3	Silent	SNP	ENST00000277865.4	37	c.501G>A	CCDS7382.1																																																																																				0.413	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271		25	36	0	0	0	0.004656	0	25	36				
TIAM1	7074	broad.mit.edu	37	21	32554912	32554912	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr21:32554912C>T	ENST00000286827.3	-	16	3184	c.2713G>A	c.(2713-2715)Gcc>Acc	p.A905T	TIAM1_ENST00000541036.1_Missense_Mutation_p.A845T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	905	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GAGTTCAGGGCGTCAGCAGCA	0.498																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(2713-2715)Gcc>Acc		T-cell lymphoma invasion and metastasis 1							79.0	73.0	75.0					21																	32554912		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32554912C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2713G>A	21.37:g.32554912C>T	ENSP00000286827:p.Ala905Thr					TIAM1_ENST00000541036.1_Missense_Mutation_p.A845T	p.A905T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			16	3184	-			905			PDZ.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.2713G>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	8.918	0.960407	0.18507	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.29142	1.58;1.58	4.42	2.04	0.26737	PDZ/DHR/GLGF (4);	0.434279	0.25219	N	0.032250	T	0.13286	0.0322	N	0.11560	0.145	0.20196	N	0.99992	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.19549	-1.0302	10	0.24483	T	0.36	.	5.9394	0.19184	0.0:0.3213:0.0:0.6786	.	845;845;905	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	T	905;746;845	ENSP00000286827:A905T;ENSP00000441570:A845T	ENSP00000286827:A905T	A	-	1	0	TIAM1	31476783	0.727000	0.28069	0.922000	0.36590	0.814000	0.46013	0.875000	0.28079	0.758000	0.33059	-0.378000	0.06908	GCC		0.498	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		5	63	0	0	0	0.000602	0	5	63				
AFF2	2334	broad.mit.edu	37	X	148072769	148072769	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chrX:148072769G>T	ENST00000370460.2	+	21	4322	c.3843G>T	c.(3841-3843)atG>atT	p.M1281I	AFF2_ENST00000342251.3_Missense_Mutation_p.M1248I|AFF2_ENST00000370457.5_Missense_Mutation_p.M1246I|AFF2_ENST00000286437.5_Missense_Mutation_p.M922I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1281					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACACGCTGATGGGGCCTCTGA	0.493																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(3841-3843)atG>atT		AF4/FMR2 family, member 2							187.0	142.0	157.0					X																	148072769		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148072769G>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3843G>T	X.37:g.148072769G>T	ENSP00000359489:p.Met1281Ile					AFF2_ENST00000286437.5_Missense_Mutation_p.M922I|AFF2_ENST00000342251.3_Missense_Mutation_p.M1248I|AFF2_ENST00000370457.5_Missense_Mutation_p.M1246I	p.M1281I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			21	4322	+	Acute lymphoblastic leukemia(192;6.56e-05)		1281					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3843G>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285906	0.80803	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.80199	0.4579	M	0.82716	2.605	0.58432	D	0.999997	B;P;P;D;D;D	0.69078	0.255;0.807;0.947;0.996;0.996;0.997	P;P;P;D;D;D	0.75020	0.745;0.899;0.859;0.974;0.974;0.985	T	0.78303	-0.2256	10	0.24483	T	0.36	.	18.3933	0.90490	0.0:0.0:1.0:0.0	.	922;1246;1246;1242;1271;1281	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	I	1281;1246;1248;922	ENSP00000359489:M1281I;ENSP00000359486:M1246I;ENSP00000345459:M1248I;ENSP00000286437:M922I	ENSP00000286437:M922I	M	+	3	0	AFF2	147880475	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.770000	0.85390	2.283000	0.76528	0.600000	0.82982	ATG		0.493	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		62	18	1	0	2.02796e-37	0.014410	3.35011e-37	62	18				
OR4A47	403253	broad.mit.edu	37	11	48511249	48511249	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:48511249G>T	ENST00000446524.1	+	1	981	c.905G>T	c.(904-906)aGa>aTa	p.R302I		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						CTCTGGAGAAGAGACCTCATA	0.413																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(904-906)aGa>aTa		olfactory receptor, family 4, subfamily A, member 47							82.0	80.0	81.0					11																	48511249		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511249G>T	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.905G>T	11.37:g.48511249G>T	ENSP00000412752:p.Arg302Ile						p.R302I	NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN			1	981	+			302						Missense_Mutation	SNP	ENST00000446524.1	37	c.905G>T	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	18.54	3.645231	0.67358	.	.	ENSG00000237388	ENST00000446524	T	0.39229	1.09	4.59	-2.76	0.05896	.	0.485335	0.18935	N	0.127117	T	0.34687	0.0906	L	0.31845	0.965	0.09310	N	0.999999	D	0.56746	0.977	P	0.53313	0.723	T	0.26189	-1.0110	10	0.54805	T	0.06	.	5.5381	0.17023	0.5959:0.0:0.2575:0.1467	.	302	Q6IF82	O4A47_HUMAN	I	302	ENSP00000412752:R302I	ENSP00000412752:R302I	R	+	2	0	OR4A47	48467825	0.000000	0.05858	0.000000	0.03702	0.509000	0.34042	-0.085000	0.11250	-0.311000	0.08754	0.205000	0.17691	AGA		0.413	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		28	50	1	0	1.77063e-15	0.005443	2.49666e-15	28	50				
TTN	7273	broad.mit.edu	37	2	179596593	179596593	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:179596593C>G	ENST00000591111.1	-	56	16282	c.16058G>C	c.(16057-16059)tGg>tCg	p.W5353S	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.W5670S|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W4426S|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12171	Ig-like 34.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTTTGAACCAAGTGATCTC	0.428																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(17008-17010)tGg>tCg		titin							118.0	122.0	121.0					2																	179596593		2026	4196	6222	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596593C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16058G>C	2.37:g.179596593C>G	ENSP00000465570:p.Trp5353Ser					TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.W4426S|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.W5353S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.W5670S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		58	17233	-			5353			Ig-like 37.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.17009G>C		.	.	.	.	.	.	.	.	.	.	C	10.35	1.327049	0.24080	.	.	ENSG00000155657	ENST00000342992	D	0.96300	-3.97	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.98738	0.9576	H	0.97707	4.06	0.80722	D	1	D	0.60575	0.988	P	0.57057	0.812	D	0.98968	1.0800	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	5353	Q8WZ42	TITIN_HUMAN	S	4426	ENSP00000343764:W4426S	ENSP00000343764:W4426S	W	-	2	0	TTN	179304838	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.883000	0.56168	2.941000	0.99782	0.655000	0.94253	TGG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		37	139	0	0	0	0.004289	0	37	139				
P2RY2	5029	broad.mit.edu	37	11	72946311	72946311	+	Missense_Mutation	SNP	C	C	G	rs145119561		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:72946311C>G	ENST00000311131.2	+	3	1574	c.1107C>G	c.(1105-1107)agC>agG	p.S369R	P2RY2_ENST00000393597.2_Missense_Mutation_p.S369R|P2RY2_ENST00000393596.2_Missense_Mutation_p.S369R	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	369					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CGGCTGGTAGCGAGAACACTA	0.552																																						ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(1105-1107)agC>agG		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						87.0	90.0	89.0					11																	72946311		2123	4152	6275	SO:0001583	missense	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72946311C>G	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.1107C>G	11.37:g.72946311C>G	ENSP00000310305:p.Ser369Arg					P2RY2_ENST00000393597.2_Missense_Mutation_p.S369R|P2RY2_ENST00000393596.2_Missense_Mutation_p.S369R	p.S369R	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	1574	+			369					B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	c.1107C>G	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	c	0.061	-1.224445	0.01530	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.73897	-0.79;-0.79;-0.79	3.87	-7.74	0.01241	.	0.534301	0.15699	N	0.249032	T	0.46560	0.1399	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.19516	-1.0303	10	0.66056	D	0.02	.	9.3621	0.38201	0.0:0.2345:0.1051:0.6604	.	369	P41231	P2RY2_HUMAN	R	369	ENSP00000377222:S369R;ENSP00000310305:S369R;ENSP00000377221:S369R	ENSP00000310305:S369R	S	+	3	2	P2RY2	72623959	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.447000	0.01010	-2.118000	0.00828	-4.018000	0.00013	AGC		0.552	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		47	35	0	0	0	0.014410	0	47	35				
SEZ6L2	26470	broad.mit.edu	37	16	29888756	29888756	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr16:29888756A>T	ENST00000308713.5	-	11	2272	c.1745T>A	c.(1744-1746)cTg>cAg	p.L582Q	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.L538Q|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.L468Q|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.L512Q	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	582	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCGTCGAACAGCGTCAGCAT	0.692																																						ENST00000308713.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1744-1746)cTg>cAg		seizure related 6 homolog (mouse)-like 2							22.0	24.0	24.0					16																	29888756		2196	4298	6494	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29888756A>T	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1745T>A	16.37:g.29888756A>T	ENSP00000312550:p.Leu582Gln					SEZ6L2_ENST00000537485.1_Missense_Mutation_p.L538Q|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.L512Q|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.L468Q	p.L582Q	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN			11	2272	-			582			CUB 3.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.1745T>A	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	A	34	5.323825	0.95708	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.57	5.57	0.84162	CUB (5);	0.000000	0.40554	N	0.001074	T	0.58075	0.2097	M	0.71036	2.16	0.48452	D	0.999654	D;D;D;D;D;D	0.71674	0.997;0.997;0.996;0.995;0.996;0.998	D;D;D;P;D;D	0.67103	0.935;0.949;0.93;0.885;0.93;0.937	T	0.61277	-0.7095	10	0.59425	D	0.04	.	14.7065	0.69194	1.0:0.0:0.0:0.0	.	538;582;468;512;582;512	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	Q	512;582;468;538	ENSP00000310206:L512Q;ENSP00000312550:L582Q;ENSP00000319215:L468Q;ENSP00000439412:L538Q	ENSP00000312550:L582Q	L	-	2	0	SEZ6L2	29796257	0.582000	0.26749	0.946000	0.38457	0.850000	0.48378	5.657000	0.67996	2.116000	0.64780	0.533000	0.62120	CTG		0.692	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		10	26	0	0	0	0.010729	0	10	26				
OR5T3	390154	broad.mit.edu	37	11	56019812	56019812	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:56019812G>C	ENST00000303059.3	+	1	137	c.137G>C	c.(136-138)gGc>gCc	p.G46A		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATATTGACAGGCTTCACAGAT	0.373																																						ENST00000303059.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(136-138)gGc>gCc		olfactory receptor, family 5, subfamily T, member 3							113.0	114.0	114.0					11																	56019812		2201	4296	6497	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56019812G>C	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.137G>C	11.37:g.56019812G>C	ENSP00000305403:p.Gly46Ala						p.G46A	NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN			1	137	+	Esophageal squamous(21;0.00448)		46					Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.137G>C	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100248	0.56183	.	.	ENSG00000172489	ENST00000303059	T	0.00651	5.97	4.75	3.84	0.44239	.	0.000000	0.42053	D	0.000778	T	0.02888	0.0086	M	0.83312	2.635	0.32330	N	0.561211	D	0.63046	0.992	D	0.68192	0.956	T	0.02877	-1.1099	10	0.87932	D	0	.	7.8894	0.29669	0.1518:0.1349:0.7132:0.0	.	46	Q8NGG3	OR5T3_HUMAN	A	46	ENSP00000305403:G46A	ENSP00000305403:G46A	G	+	2	0	OR5T3	55776388	0.998000	0.40836	0.247000	0.24249	0.091000	0.18340	3.511000	0.53400	1.368000	0.46115	0.643000	0.83706	GGC		0.373	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		41	67	0	0	0	0.013114	0	41	67				
PKHD1L1	93035	broad.mit.edu	37	8	110451290	110451290	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:110451290G>A	ENST00000378402.5	+	32	4029	c.3925G>A	c.(3925-3927)Gaa>Aaa	p.E1309K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1309	IPT/TIG 6.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TATCTATGTAGAAGTCAGAAA	0.398										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(3925-3927)Gaa>Aaa		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							138.0	133.0	135.0					8																	110451290		1842	4091	5933	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110451290G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3925G>A	8.37:g.110451290G>A	ENSP00000367655:p.Glu1309Lys	HNSCC(38;0.096)					p.E1309K	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		32	4029	+			1309			IPT/TIG 6.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.3925G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	6.193	0.403784	0.11754	.	.	ENSG00000205038	ENST00000378402	T	0.76578	-1.03	5.95	5.07	0.68467	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.248378	0.37530	N	0.002051	T	0.59702	0.2213	L	0.27053	0.805	0.24003	N	0.996209	B	0.12013	0.005	B	0.14023	0.01	T	0.43163	-0.9408	10	0.06757	T	0.87	.	7.9061	0.29763	0.0864:0.1623:0.7512:0.0	.	1309	Q86WI1	PKHL1_HUMAN	K	1309	ENSP00000367655:E1309K	ENSP00000367655:E1309K	E	+	1	0	PKHD1L1	110520466	0.996000	0.38824	0.988000	0.46212	0.895000	0.52256	2.401000	0.44513	1.497000	0.48584	0.655000	0.94253	GAA		0.398	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		64	106	0	0	0	0.014410	0	64	106				
KCNN2	3781	broad.mit.edu	37	5	113831815	113831815	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:113831815G>T	ENST00000512097.3	+	9	2694	c.1676G>T	c.(1675-1677)cGg>cTg	p.R559L	KCNN2_ENST00000264773.3_Missense_Mutation_p.R559L|KCNN2_ENST00000503706.1_Missense_Mutation_p.R211L|RP11-492A10.1_ENST00000514115.1_RNA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	559					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	GAGCGGTCCCGGTCCTCGTCC	0.512																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1675-1677)cGg>cTg		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2							100.0	97.0	98.0					5																	113831815		2202	4300	6502	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113831815G>T	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1676G>T	5.37:g.113831815G>T	ENSP00000427120:p.Arg559Leu					KCNN2_ENST00000503706.1_Missense_Mutation_p.R211L|KCNN2_ENST00000264773.3_Missense_Mutation_p.R559L|RP11-492A10.1_ENST00000514115.1_RNA	p.R559L			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	9	2694	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	559					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.1676G>T	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079245	0.55753	.	.	ENSG00000080709	ENST00000264773;ENST00000503706	D;D	0.98329	-4.87;-3.23	5.28	5.28	0.74379	.	0.110636	0.64402	D	0.000008	D	0.95937	0.8677	L	0.51422	1.61	0.51767	D	0.999933	P	0.35401	0.499	B	0.26693	0.072	D	0.95713	0.8759	10	0.17832	T	0.49	.	18.5437	0.91039	0.0:0.0:1.0:0.0	.	559	Q9H2S1	KCNN2_HUMAN	L	559;211	ENSP00000264773:R559L;ENSP00000421439:R211L	ENSP00000264773:R559L	R	+	2	0	KCNN2	113859714	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.950000	0.70265	2.481000	0.83766	0.643000	0.83706	CGG		0.512	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		31	74	1	0	2.08457e-15	0.010818	2.92708e-15	31	74				
SLC15A1	6564	broad.mit.edu	37	13	99364806	99364806	+	Silent	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr13:99364806A>G	ENST00000376503.5	-	10	811	c.756T>C	c.(754-756)agT>agC	p.S252S		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	252					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GAAATGCCTTACTCCGATGCC	0.433																																						ENST00000376503.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(754-756)agT>agC		solute carrier family 15 (oligopeptide transporter), member 1	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						123.0	117.0	119.0					13																	99364806		2203	4300	6503	SO:0001819	synonymous_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99364806A>G	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.756T>C	13.37:g.99364806A>G							p.S252S	NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN			10	811	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		252					Q5VW82	Silent	SNP	ENST00000376503.5	37	c.756T>C	CCDS9489.1																																																																																				0.433	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		37	92	0	0	0	0.007835	0	37	92				
VKORC1	79001	broad.mit.edu	37	16	31105904	31105904	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr16:31105904G>A	ENST00000394975.2	-	1	374	c.147C>T	c.(145-147)atC>atT	p.I49I	VKORC1_ENST00000354895.4_Silent_p.I49I|VKORC1_ENST00000300851.6_Silent_p.I49I|VKORC1_ENST00000319788.7_Silent_p.I49I|VKORC1_ENST00000394971.3_5'Flank|RP11-196G11.1_ENST00000529564.1_Silent_p.I49I|VKORC1_ENST00000498155.1_Intron	NM_024006.4	NP_076869.1	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	49					blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular protein metabolic process (GO:0044267)|drug metabolic process (GO:0017144)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	GCGAACAGCTGATGGCGGTGC	0.682																																						ENST00000319788.7																			0				lung(3)|urinary_tract(1)	4						c.(145-147)atC>atT		vitamin K epoxide reductase complex, subunit 1	Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)						14.0	15.0	15.0					16																	31105904		2195	4284	6479	SO:0001819	synonymous_variant	79001				peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity	g.chr16:31105904G>A		CCDS10703.1, CCDS10704.1	16p11.2	2008-02-05	2004-07-23		ENSG00000167397	ENSG00000167397			23663	protein-coding gene	gene with protein product		608547	"""vitamin K dependent clotting factors deficiency 2"""	VKCFD2			Standard	NM_024006		Approved		uc002eas.3	Q9BQB6	OTTHUMG00000047408	ENST00000394975.2:c.147C>T	16.37:g.31105904G>A						RP11-196G11.1_ENST00000529564.1_Silent_p.I49I|VKORC1_ENST00000498155.1_Intron|VKORC1_ENST00000394975.2_Silent_p.I49I|VKORC1_ENST00000354895.4_Silent_p.I49I|VKORC1_ENST00000300851.6_Silent_p.I49I	p.I49I			Q9BQB6	VKOR1_HUMAN			1	357	-			49					A6NIQ6|B2R4Z6|Q6UX90|Q7Z2R4	Silent	SNP	ENST00000394975.2	37	c.147C>T	CCDS10703.1																																																																																				0.682	VKORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108582.1	NM_024006		12	11	0	0	0	0.013537	0	12	11				
OR4C46	119749	broad.mit.edu	37	11	51515722	51515722	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:51515722G>T	ENST00000328188.1	+	1	441	c.441G>T	c.(439-441)tgG>tgT	p.W147C		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GAGTGGTGTGGATGGGAGGCT	0.463																																						ENST00000328188.1																			0				endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.(439-441)tgG>tgT		olfactory receptor, family 4, subfamily C, member 46							174.0	164.0	168.0					11																	51515722		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515722G>T		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.441G>T	11.37:g.51515722G>T	ENSP00000329056:p.Trp147Cys						p.W147C	NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN			1	441	+			147						Missense_Mutation	SNP	ENST00000328188.1	37	c.441G>T	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	1.311	-0.602128	0.03744	.	.	ENSG00000185926	ENST00000328188	T	0.59638	0.25	2.48	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000641	T	0.57125	0.2032	M	0.76433	2.335	0.18873	N	0.999989	B	0.32031	0.352	B	0.38954	0.286	T	0.54977	-0.8212	10	0.62326	D	0.03	.	7.0289	0.24956	0.1505:0.0:0.8495:0.0	.	147	A6NHA9	O4C46_HUMAN	C	147	ENSP00000329056:W147C	ENSP00000329056:W147C	W	+	3	0	OR4C46	51372298	0.753000	0.28349	0.002000	0.10522	0.003000	0.03518	1.126000	0.31344	0.408000	0.25621	0.134000	0.15878	TGG		0.463	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		75	119	1	0	1.15098e-32	0.014410	1.8648e-32	75	119				
MAGI3	260425	broad.mit.edu	37	1	114216018	114216018	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:114216018G>A	ENST00000307546.9	+	19	3195	c.3120G>A	c.(3118-3120)gaG>gaA	p.E1040E	MAGI3_ENST00000369615.1_Silent_p.E1040E|MAGI3_ENST00000369617.4_Silent_p.E1065E|MAGI3_ENST00000369611.4_Silent_p.E1040E	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1065					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGGAAGGAGTACAACATGG	0.488																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(3118-3120)gaG>gaA		membrane associated guanylate kinase, WW and PDZ domain containing 3							112.0	117.0	116.0					1																	114216018		2203	4300	6503	SO:0001819	synonymous_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114216018G>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3120G>A	1.37:g.114216018G>A						MAGI3_ENST00000307546.9_Silent_p.E1040E|MAGI3_ENST00000369617.4_Silent_p.E1065E|MAGI3_ENST00000369611.4_Silent_p.E1040E	p.E1040E	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	19	3182	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	1065					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	c.3120G>A	CCDS44196.1																																																																																				0.488	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		64	39	0	0	0	0.014410	0	64	39				
PRRC2C	23215	broad.mit.edu	37	1	171509618	171509618	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:171509618G>T	ENST00000338920.4	+	16	3244	c.3007G>T	c.(3007-3009)Gaa>Taa	p.E1003*	PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.E1005*|PRRC2C_ENST00000367742.3_Nonsense_Mutation_p.E1005*|PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.E1003*	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1003					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TAACAGAAGGGAAGAAGTTAA	0.413																																						ENST00000367742.3																			0											c.(3013-3015)Gaa>Taa		proline-rich coiled-coil 2C							26.0	26.0	26.0					1																	171509618		2203	4300	6503	SO:0001587	stop_gained	23215						protein C-terminus binding	g.chr1:171509618G>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3007G>T	1.37:g.171509618G>T	ENSP00000343629:p.Glu1003*					PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.E1005*|PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.E1003*|PRRC2C_ENST00000338920.4_Nonsense_Mutation_p.E1003*	p.E1005*			Q9Y520	PRC2C_HUMAN			16	3255	+			1003					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Nonsense_Mutation	SNP	ENST00000338920.4	37	c.3013G>T	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	43	10.038465	0.99323	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	.	.	.	5.98	5.98	0.97165	.	0.139716	0.32231	N	0.006393	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	.	.	.	X	1005;1004;1003;1005;1003;760;762	.	ENSP00000343629:E1003X	E	+	1	0	PRRC2C	169776242	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.434000	0.97515	2.835000	0.97688	0.650000	0.86243	GAA		0.413	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		17	16	1	0	1.02788e-11	0.004990	1.36377e-11	17	16				
MYO7A	4647	broad.mit.edu	37	11	76916513	76916513	+	Silent	SNP	C	C	T	rs397516318		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:76916513C>T	ENST00000409709.3	+	40	5759	c.5487C>T	c.(5485-5487)agC>agT	p.S1829S	MYO7A_ENST00000605744.1_Intron|MYO7A_ENST00000409619.2_Silent_p.S1780S|MYO7A_ENST00000458637.2_Silent_p.S1791S	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1829	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCAGGTACAGCGAGGAGCGGG	0.677																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(5485-5487)agC>agT		myosin VIIA							17.0	22.0	20.0					11																	76916513		2087	4183	6270	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76916513C>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.5487C>T	11.37:g.76916513C>T						MYO7A_ENST00000409619.2_Silent_p.S1780S|MYO7A_ENST00000605744.1_Intron|MYO7A_ENST00000458637.2_Silent_p.S1791S	p.S1829S	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			40	5759	+			1829			MyTH4 2.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.5487C>T	CCDS53683.1																																																																																				0.677	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		5	0	0	0	0	0.000602	0	5	0				
PRELP	5549	broad.mit.edu	37	1	203452824	203452824	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:203452824G>A	ENST00000343110.2	+	2	639	c.512G>A	c.(511-513)cGg>cAg	p.R171Q		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	171					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GCCCTGCCCCGGAACCTGGAG	0.597																																						ENST00000343110.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(511-513)cGg>cAg		proline/arginine-rich end leucine-rich repeat protein							68.0	74.0	72.0					1																	203452824		2203	4300	6503	SO:0001583	missense	5549				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr1:203452824G>A	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.512G>A	1.37:g.203452824G>A	ENSP00000343924:p.Arg171Gln						p.R171Q	NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	639	+			171					Q6FG38	Missense_Mutation	SNP	ENST00000343110.2	37	c.512G>A	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456738	0.43634	.	.	ENSG00000188783	ENST00000343110	T	0.58358	0.34	4.59	-3.04	0.05412	.	0.412872	0.22755	N	0.056021	T	0.30759	0.0775	N	0.25890	0.77	0.25005	N	0.991442	B	0.13594	0.008	B	0.13407	0.009	T	0.08638	-1.0712	10	0.37606	T	0.19	-12.1321	6.3515	0.21379	0.3738:0.3942:0.232:0.0	.	171	P51888	PRELP_HUMAN	Q	171	ENSP00000343924:R171Q	ENSP00000343924:R171Q	R	+	2	0	PRELP	201719447	0.000000	0.05858	0.813000	0.32504	0.931000	0.56810	0.318000	0.19504	-0.579000	0.05952	-0.369000	0.07265	CGG		0.597	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		5	149	0	0	0	0.001984	0	5	149				
THEMIS	387357	broad.mit.edu	37	6	128222065	128222065	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:128222065G>T	ENST00000368248.2	-	1	161	c.13C>A	c.(13-15)Ctg>Atg	p.L5M	THEMIS_ENST00000368250.1_De_novo_Start_InFrame|THEMIS_ENST00000543064.1_Missense_Mutation_p.L5M|THEMIS_ENST00000537166.1_Intron	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	5	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AATTCTTCCAGTGATAATGCC	0.498																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60								thymocyte selection associated							245.0	239.0	241.0					6																	128222065		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128222065G>T	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.13C>A	6.37:g.128222065G>T	ENSP00000357231:p.Leu5Met					THEMIS_ENST00000368248.2_Missense_Mutation_p.L5M|THEMIS_ENST00000537166.1_Intron|THEMIS_ENST00000543064.1_Missense_Mutation_p.L5M				Q8N1K5	THMS1_HUMAN			0	274	-								A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Translation_Start_Site	SNP	ENST00000368248.2	37		CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.534445	0.45073	.	.	ENSG00000172673	ENST00000543064;ENST00000368248	T;T	0.31510	1.57;1.49	5.55	3.76	0.43208	.	0.205916	0.31760	N	0.007104	T	0.40767	0.1130	M	0.75777	2.31	0.80722	D	1	D;D	0.71674	0.992;0.998	P;D	0.83275	0.9;0.996	T	0.41520	-0.9504	10	0.87932	D	0	-0.9309	8.5567	0.33485	0.1795:0.0:0.8205:0.0	.	5;5	F5H1J9;Q8N1K5	.;THMS1_HUMAN	M	5	ENSP00000439594:L5M;ENSP00000357231:L5M	ENSP00000357231:L5M	L	-	1	2	THEMIS	128263758	0.854000	0.29725	0.643000	0.29450	0.492000	0.33523	1.055000	0.30467	0.700000	0.31782	0.591000	0.81541	CTG		0.498	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		51	69	1	0	9.57592e-29	0.014410	1.51506e-28	51	69				
PRRX1	5396	broad.mit.edu	37	1	170688866	170688866	+	Splice_Site	SNP	G	G	C	rs540157709		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:170688866G>C	ENST00000239461.6	+	2	554		c.e2-1		PRRX1_ENST00000367760.3_Splice_Site|PRRX1_ENST00000497230.2_Splice_Site	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1						artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCTATTCCAGATGACCAGCT	0.408													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21035	0.0		0.0	False		,,,				2504	0.0					ENST00000239461.6																			0				large_intestine(2)|ovary(1)	3						c.e2-1		paired related homeobox 1							41.0	40.0	41.0					1																	170688866		2203	4300	6503	SO:0001630	splice_region_variant	5396					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:170688866G>C	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.242-1G>C	1.37:g.170688866G>C						PRRX1_ENST00000497230.2_Splice_Site|PRRX1_ENST00000367760.3_Splice_Site		NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN			2	554	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)							B5BUM7|O60807	Splice_Site	SNP	ENST00000239461.6	37		CCDS1290.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922477	0.52653	.	.	ENSG00000116132	ENST00000553786;ENST00000367760;ENST00000239461;ENST00000497230	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1089	0.86670	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRRX1	168955490	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	7.508000	0.81686	2.352000	0.79861	0.655000	0.94253	.		0.408	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902	Intron	14	19	0	0	0	0.003163	0	14	19				
ARHGAP17	55114	broad.mit.edu	37	16	24980081	24980081	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr16:24980081C>A	ENST00000289968.6	-	5	354	c.285G>T	c.(283-285)gaG>gaT	p.E95D	ARHGAP17_ENST00000441763.2_Missense_Mutation_p.E95D|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E95D|ARHGAP17_ENST00000575975.1_5'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	95	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CTCCACACGTCTCCAGCATCT	0.507																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(283-285)gaG>gaT		Rho GTPase activating protein 17							75.0	64.0	68.0					16																	24980081		2197	4300	6497	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24980081C>A	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.285G>T	16.37:g.24980081C>A	ENSP00000289968:p.Glu95Asp					ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E95D|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.E95D	p.E95D	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	5	354	-			95			BAR.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.285G>T	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.394171	0.42410	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000441763;ENST00000455311	T;T;T	0.66460	-0.21;-0.21;-0.21	5.85	3.85	0.44370	BAR (3);	0.000000	0.44483	D	0.000445	T	0.48624	0.1510	L	0.37561	1.115	0.33056	D	0.533485	B;B;P;B	0.35155	0.005;0.023;0.487;0.046	B;B;B;B	0.31869	0.018;0.078;0.122;0.137	T	0.55023	-0.8205	10	0.17369	T	0.5	.	7.2291	0.26033	0.0:0.6987:0.1431:0.1582	.	95;95;95;95	Q68EM7-4;C9IZD3;Q68EM7-2;Q68EM7	.;.;.;RHG17_HUMAN	D	95	ENSP00000289968:E95D;ENSP00000303130:E95D;ENSP00000406950:E95D	ENSP00000289968:E95D	E	-	3	2	ARHGAP17	24887582	0.971000	0.33674	1.000000	0.80357	0.993000	0.82548	0.116000	0.15561	1.591000	0.50007	0.643000	0.83706	GAG		0.507	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		27	38	1	0	2.41591e-17	0.004656	3.49426e-17	27	38				
MYO18B	84700	broad.mit.edu	37	22	26242187	26242187	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr22:26242187C>A	ENST00000407587.2	+	19	3661	c.3492C>A	c.(3490-3492)acC>acA	p.T1164T	MYO18B_ENST00000536101.1_Silent_p.T1163T|MYO18B_ENST00000335473.7_Silent_p.T1163T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1163	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGAGGAGGACCTTTGCCAGCA	0.672																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(3487-3489)acC>acA		myosin XVIIIB							65.0	76.0	72.0					22																	26242187		2144	4237	6381	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26242187C>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3492C>A	22.37:g.26242187C>A						MYO18B_ENST00000536101.1_Silent_p.T1163T|MYO18B_ENST00000407587.2_Silent_p.T1164T	p.T1163T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			19	3739	+			1163			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.3489C>A																																																																																					0.672	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		27	36	1	0	1.04121e-07	0.005443	1.30929e-07	27	36				
PCDH10	57575	broad.mit.edu	37	4	134072226	134072226	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr4:134072226G>C	ENST00000264360.5	+	1	1757	c.931G>C	c.(931-933)Gag>Cag	p.E311Q	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	311	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGCAGACTGGAGGTAAGCGG	0.632																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(931-933)Gag>Cag		protocadherin 10							58.0	55.0	56.0					4																	134072226		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072226G>C	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.931G>C	4.37:g.134072226G>C	ENSP00000264360:p.Glu311Gln						p.E311Q	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1757	+			311			Cadherin 3.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.931G>C	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197813	0.58126	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.52295	0.67	4.34	4.34	0.51931	Cadherin (4);Cadherin-like (1);	0.000000	0.45867	D	0.000333	T	0.44623	0.1302	N	0.02539	-0.55	0.53688	D	0.999977	D;B	0.76494	0.999;0.078	D;B	0.83275	0.996;0.18	T	0.62863	-0.6764	10	0.51188	T	0.08	.	16.6535	0.85223	0.0:0.0:1.0:0.0	.	311;311	Q9P2E7;Q96SF0	PCD10_HUMAN;.	Q	311	ENSP00000264360:E311Q	ENSP00000264360:E311Q	E	+	1	0	PCDH10	134291676	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	4.581000	0.60949	2.230000	0.72887	0.407000	0.27541	GAG		0.632	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		37	23	0	0	0	0.003271	0	37	23				
OR1N2	138882	broad.mit.edu	37	9	125315511	125315511	+	Silent	SNP	G	G	C	rs267602122		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr9:125315511G>C	ENST00000373688.2	+	1	121	c.63G>C	c.(61-63)gtG>gtC	p.V21V		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CAGGCAGAGTGAACCAAACCA	0.448																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(61-63)gtG>gtC		olfactory receptor, family 1, subfamily N, member 2							108.0	104.0	105.0					9																	125315511		2203	4300	6503	SO:0001819	synonymous_variant	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125315511G>C		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.63G>C	9.37:g.125315511G>C							p.V21V	NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN			1	121	+			21					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Silent	SNP	ENST00000373688.2	37	c.63G>C	CCDS35123.1																																																																																				0.448	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			39	59	0	0	0	0.004289	0	39	59				
SPACA1	81833	broad.mit.edu	37	6	88763681	88763681	+	Missense_Mutation	SNP	G	G	C	rs373094172		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:88763681G>C	ENST00000237201.1	+	2	343	c.226G>C	c.(226-228)Gtc>Ctc	p.V76L		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	76					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TAGGAATGTCGTCAAAGAAGT	0.348																																						ENST00000237201.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20						c.(226-228)Gtc>Ctc		sperm acrosome associated 1							87.0	85.0	86.0					6																	88763681		2203	4300	6503	SO:0001583	missense	81833					integral to membrane		g.chr6:88763681G>C	AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.226G>C	6.37:g.88763681G>C	ENSP00000237201:p.Val76Leu						p.V76L	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.11)	2	343	+		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	76						Missense_Mutation	SNP	ENST00000237201.1	37	c.226G>C	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.237868	0.22711	.	.	ENSG00000118434	ENST00000237201	T	0.21543	2.0	5.97	1.93	0.25924	.	0.811387	0.10979	N	0.612887	T	0.07683	0.0193	M	0.65975	2.015	0.09310	N	1	P	0.38370	0.628	B	0.35470	0.203	T	0.34576	-0.9823	10	0.59425	D	0.04	-6.9977	1.9497	0.03364	0.1539:0.1154:0.3434:0.3873	.	76	Q9HBV2	SACA1_HUMAN	L	76	ENSP00000237201:V76L	ENSP00000237201:V76L	V	+	1	0	SPACA1	88820400	0.792000	0.28813	0.363000	0.25875	0.182000	0.23217	0.669000	0.25142	0.388000	0.25054	0.650000	0.86243	GTC		0.348	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1			8	20	0	0	0	0.008291	0	8	20				
RSRC1	51319	broad.mit.edu	37	3	157920993	157920993	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr3:157920993G>C	ENST00000295930.3	+	4	615	c.453G>C	c.(451-453)aaG>aaC	p.K151N	RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000480820.1_Missense_Mutation_p.K151N|RSRC1_ENST00000475278.2_Missense_Mutation_p.K151N	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	151				EK -> GE (in Ref. 3; AAF64267). {ECO:0000305}.	mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			aaaaggagaaggataaaggga	0.448																																						ENST00000295930.3																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18						c.(451-453)aaG>aaC		arginine/serine-rich coiled-coil 1							111.0	119.0	116.0					3																	157920993		2203	4300	6503	SO:0001583	missense	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:157920993G>C	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.453G>C	3.37:g.157920993G>C	ENSP00000295930:p.Lys151Asn					RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000475278.2_Missense_Mutation_p.K151N|RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000480820.1_Missense_Mutation_p.K151N|RSRC1_ENST00000464171.1_Intron	p.K151N	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		4	615	+			151	EK -> GE (in Ref. 3; AAF64267).				A8K2R9|Q96QK2|Q9NZE5	Missense_Mutation	SNP	ENST00000295930.3	37	c.453G>C	CCDS3181.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.46|11.46	1.646384|1.646384	0.29246|0.29246	.|.	.|.	ENSG00000174891|ENSG00000174891	ENST00000482822|ENST00000480820;ENST00000494002;ENST00000295930;ENST00000471994;ENST00000475278;ENST00000476899	.|.	.|.	.|.	5.04|5.04	1.74|1.74	0.24563|0.24563	.|.	.|0.218549	.|0.42964	.|D	.|0.000639	T|T	0.43831|0.43831	0.1265|0.1265	L|L	0.32530|0.32530	0.975|0.975	0.41042|0.41042	D|D	0.98523|0.98523	.|P	.|0.51351	.|0.944	.|P	.|0.46850	.|0.529	T|T	0.40646|0.40646	-0.9552|-0.9552	5|9	.|0.59425	.|D	.|0.04	.|.	9.3912|9.3912	0.38374|0.38374	0.3038:0.0:0.6962:0.0|0.3038:0.0:0.6962:0.0	.|.	.|151	.|Q96IZ7	.|RSRC1_HUMAN	R|N	45|151	.|.	.|ENSP00000295930:K151N	G|K	+|+	1|3	0|2	RSRC1|RSRC1	159403687|159403687	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.394000|0.394000	0.30568|0.30568	0.970000|0.970000	0.29383|0.29383	0.650000|0.650000	0.30769|0.30769	-0.191000|-0.191000	0.12829|0.12829	GGA|AAG		0.448	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625		9	25	0	0	0	0.004482	0	9	25				
MUC16	94025	broad.mit.edu	37	19	9000496	9000496	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:9000496C>A	ENST00000397910.4	-	54	40691	c.40488G>T	c.(40486-40488)atG>atT	p.M13496I	MUC16_ENST00000380951.5_Missense_Mutation_p.M137I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13498	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						CAGGGTGATGCATGTTCTCCT	0.478																																						ENST00000397910.4																			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.(40486-40488)atG>atT		mucin 16, cell surface associated							190.0	162.0	171.0					19																	9000496		1992	4158	6150	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9000496C>A	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.40488G>T	19.37:g.9000496C>A	ENSP00000381008:p.Met13496Ile					MUC16_ENST00000380951.5_Missense_Mutation_p.M137I	p.M13496I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			54	40691	-			13498			SEA 10.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.40488G>T	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.82|12.82	2.053882|2.053882	0.36277|0.36277	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.43294	.|0.95;0.95	2.9|2.9	2.9|2.9	0.33743|0.33743	.|SEA (3);	.|.	.|.	.|.	.|.	T|T	0.62696|0.62696	0.2449|0.2449	M|M	0.83692|0.83692	2.655|2.655	.|.	.|.	.|.	.|P;B	.|0.47677	.|0.899;0.115	.|D;P	.|0.67231	.|0.95;0.593	T|T	0.72178|0.72178	-0.4369|-0.4369	4|8	.|0.51188	.|T	.|0.08	-25.5947|-25.5947	9.3576|9.3576	0.38175|0.38175	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|21141;13496	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	F|I	336|13496;137	.|ENSP00000381008:M13496I;ENSP00000370338:M137I	.|ENSP00000370338:M137I	C|M	-|-	2|3	0|0	MUC16|MUC16	8861496|8861496	0.732000|0.732000	0.28121|0.28121	0.028000|0.028000	0.17463|0.17463	0.005000|0.005000	0.04900|0.04900	1.799000|1.799000	0.38824|0.38824	1.626000|1.626000	0.50381|0.50381	0.305000|0.305000	0.20034|0.20034	TGC|ATG		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		33	66	1	0	9.65021e-13	0.010818	1.31134e-12	33	66				
KIAA1217	56243	broad.mit.edu	37	10	24727394	24727394	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr10:24727394A>G	ENST00000376454.3	+	5	862	c.832A>G	c.(832-834)Aat>Gat	p.N278D	KIAA1217_ENST00000430453.2_Missense_Mutation_p.N199D|KIAA1217_ENST00000376462.1_Missense_Mutation_p.N198D|KIAA1217_ENST00000458595.1_Missense_Mutation_p.N278D|KIAA1217_ENST00000376452.3_Missense_Mutation_p.N278D	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	278					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAAAACTATGAATGGAGACAT	0.403																																						ENST00000376454.3																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(832-834)Aat>Gat		KIAA1217							200.0	171.0	181.0					10																	24727394		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24727394A>G	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.832A>G	10.37:g.24727394A>G	ENSP00000365637:p.Asn278Asp					KIAA1217_ENST00000376452.3_Missense_Mutation_p.N278D|KIAA1217_ENST00000430453.2_Missense_Mutation_p.N199D|KIAA1217_ENST00000376462.1_Missense_Mutation_p.N198D|KIAA1217_ENST00000458595.1_Missense_Mutation_p.N278D	p.N278D	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			5	862	+			278					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.832A>G	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.823610	0.71143	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453	T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11	5.46	4.33	0.51752	.	0.089928	0.85682	N	0.000000	T	0.59891	0.2227	M	0.66297	2.02	0.45607	D	0.998549	D;D;D;B	0.89917	0.999;1.0;0.998;0.197	D;D;D;B	0.83275	0.978;0.996;0.986;0.062	T	0.59182	-0.7502	10	0.48119	T	0.1	.	10.999	0.47593	0.927:0.0:0.073:0.0	.	278;278;278;278	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	D	198;278;278;278;278;128;199	ENSP00000365645:N198D;ENSP00000365639:N278D;ENSP00000392625:N278D;ENSP00000365637:N278D;ENSP00000365635:N278D;ENSP00000404798:N128D;ENSP00000389680:N199D	ENSP00000365635:N278D	N	+	1	0	KIAA1217	24767400	1.000000	0.71417	0.913000	0.36048	0.723000	0.41478	6.868000	0.75516	0.927000	0.37143	0.467000	0.42956	AAT		0.403	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		43	56	0	0	0	0.008740	0	43	56				
ZHX2	22882	broad.mit.edu	37	8	123965602	123965602	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:123965602T>C	ENST00000314393.4	+	3	2687	c.1852T>C	c.(1852-1854)Tcc>Ccc	p.S618P		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	618					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGACCAGCTCTCCGGTGCCCA	0.532																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(1852-1854)Tcc>Ccc		zinc fingers and homeoboxes 2							67.0	64.0	65.0					8																	123965602		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123965602T>C	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1852T>C	8.37:g.123965602T>C	ENSP00000314709:p.Ser618Pro						p.S618P	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2687	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		618						Missense_Mutation	SNP	ENST00000314393.4	37	c.1852T>C	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	T	9.202	1.028657	0.19512	.	.	ENSG00000178764	ENST00000314393	T	0.19938	2.11	5.41	-1.06	0.10002	.	0.877358	0.10279	N	0.693773	T	0.11239	0.0274	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28933	-1.0028	10	0.72032	D	0.01	-9.4686	6.5105	0.22218	0.3592:0.0:0.2347:0.4061	.	618	Q9Y6X8	ZHX2_HUMAN	P	618	ENSP00000314709:S618P	ENSP00000314709:S618P	S	+	1	0	ZHX2	124034783	0.007000	0.16637	0.583000	0.28640	0.952000	0.60782	0.061000	0.14366	-0.322000	0.08615	0.459000	0.35465	TCC		0.532	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		25	52	0	0	0	0.003954	0	25	52				
RECQL5	9400	broad.mit.edu	37	17	73657115	73657115	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr17:73657115C>G	ENST00000317905.5	-	6	1065	c.906G>C	c.(904-906)caG>caC	p.Q302H	RECQL5_ENST00000340830.5_Missense_Mutation_p.Q302H|RECQL5_ENST00000423245.2_Missense_Mutation_p.Q275H|RECQL5_ENST00000584999.1_Missense_Mutation_p.Q302H|RECQL5_ENST00000420326.2_Missense_Mutation_p.Q302H	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	302	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCCAGTCGTTCTGCACCAGCG	0.512								Other identified genes with known or suspected DNA repair function																														ENST00000420326.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(904-906)caG>caC	Other identified genes with known or suspected DNA repair function	RecQ protein-like 5							168.0	137.0	148.0					17																	73657115		2203	4300	6503	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73657115C>G	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.906G>C	17.37:g.73657115C>G	ENSP00000317636:p.Gln302His					RECQL5_ENST00000423245.2_Missense_Mutation_p.Q275H|RECQL5_ENST00000584999.1_Missense_Mutation_p.Q302H|RECQL5_ENST00000317905.5_Missense_Mutation_p.Q302H|RECQL5_ENST00000340830.5_Missense_Mutation_p.Q302H	p.Q302H	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		6	1065	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		302			Helicase C-terminal.		Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.906G>C	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897586	0.33535	.	.	ENSG00000108469	ENST00000423245;ENST00000317905;ENST00000420326;ENST00000340830	T;T;T	0.75367	-0.93;-0.93;-0.93	5.6	3.27	0.37495	Helicase, C-terminal (3);	0.056914	0.64402	D	0.000001	D	0.84447	0.5474	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	D	0.86487	0.1795	10	0.87932	D	0	-14.6098	13.089	0.59156	0.0:0.8472:0.0:0.1527	.	302;275;302	O94762;Q6P4G0;O94762-3	RECQ5_HUMAN;.;.	H	302	ENSP00000317636:Q302H;ENSP00000414933:Q302H;ENSP00000341983:Q302H	ENSP00000317636:Q302H	Q	-	3	2	RECQL5	71168710	1.000000	0.71417	0.999000	0.59377	0.873000	0.50193	4.935000	0.63498	1.369000	0.46134	0.561000	0.74099	CAG		0.512	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		14	110	0	0	0	0.001855	0	14	110				
LEPR	3953	broad.mit.edu	37	1	66081724	66081724	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:66081724C>T	ENST00000349533.6	+	15	2214	c.2029C>T	c.(2029-2031)Cag>Tag	p.Q677*	LEPR_ENST00000371060.3_Nonsense_Mutation_p.Q677*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.Q677*|LEPR_ENST00000371058.1_Nonsense_Mutation_p.Q677*|LEPR_ENST00000371059.3_Nonsense_Mutation_p.Q677*|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GTGCAGTGTTCAGAGATATGT	0.393																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(2029-2031)Cag>Tag		leptin receptor							110.0	101.0	104.0					1																	66081724		2203	4300	6503	SO:0001587	stop_gained	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66081724C>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2029C>T	1.37:g.66081724C>T	ENSP00000330393:p.Gln677*					LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Nonsense_Mutation_p.Q677*|LEPR_ENST00000371060.3_Nonsense_Mutation_p.Q677*|LEPR_ENST00000371058.1_Nonsense_Mutation_p.Q677*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.Q677*	p.Q677*	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	15	2214	+			677			Fibronectin type-III 3.		Q6FHL5	Nonsense_Mutation	SNP	ENST00000349533.6	37	c.2029C>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	34	5.377648	0.95945	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	.	.	.	5.37	1.58	0.23477	.	0.456851	0.26590	N	0.023538	.	.	.	.	.	.	0.29540	N	0.852166	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8649	15.6277	0.76874	0.3522:0.6478:0.0:0.0	.	.	.	.	X	677	.	ENSP00000340884:Q677X	Q	+	1	0	LEPR	65854312	0.959000	0.32827	0.549000	0.28204	0.263000	0.26337	0.460000	0.21924	0.014000	0.14944	-0.262000	0.10625	CAG		0.393	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		15	15	0	0	0	0.004007	0	15	15				
OR2T3	343173	broad.mit.edu	37	1	248637239	248637239	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:248637239C>G	ENST00000359594.2	+	1	613	c.588C>G	c.(586-588)gaC>gaG	p.D196E		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTGCTCTGACGTCTCCCTCT	0.522																																						ENST00000359594.2																			0				breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(586-588)gaC>gaG		olfactory receptor, family 2, subfamily T, member 3							161.0	131.0	142.0					1																	248637239		2145	4251	6396	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637239C>G		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.588C>G	1.37:g.248637239C>G	ENSP00000352604:p.Asp196Glu						p.D196E	NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	613	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		196					B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.588C>G	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	c	14.91	2.675728	0.47781	.	.	ENSG00000196539	ENST00000359594	T	0.00227	8.5	2.37	-3.17	0.05202	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00384	0.0012	M	0.85099	2.735	0.09310	N	0.999999	P	0.49447	0.924	P	0.53185	0.72	T	0.15694	-1.0428	9	0.66056	D	0.02	.	8.5949	0.33710	0.0:0.4374:0.0:0.5626	.	196	Q8NH03	OR2T3_HUMAN	E	196	ENSP00000352604:D196E	ENSP00000352604:D196E	D	+	3	2	OR2T3	246703862	0.000000	0.05858	0.001000	0.08648	0.232000	0.25224	-1.050000	0.03510	-0.802000	0.04421	-1.202000	0.01658	GAC		0.522	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		107	273	0	0	0	0.014410	0	107	273				
GRIN2A	2903	broad.mit.edu	37	16	10274094	10274094	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr16:10274094G>T	ENST00000396573.2	-	3	484	c.175C>A	c.(175-177)Cag>Aag	p.Q59K	GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q59K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q59K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q59K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q59K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	59					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCGCCGCCTGCTCGGGGCCC	0.657																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(175-177)Cag>Aag		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						59.0	64.0	63.0					16																	10274094		2197	4299	6496	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10274094G>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.175C>A	16.37:g.10274094G>T	ENSP00000379818:p.Gln59Lys					GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q59K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q59K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q59K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q59K	p.Q59K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			3	484	-			59					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.175C>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	4.998	0.185286	0.09495	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000330684;ENST00000396575	D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06	4.54	4.54	0.55810	.	0.577583	0.15854	N	0.241367	T	0.71986	0.3405	L	0.29908	0.895	0.80722	D	1	B;B;B	0.31125	0.309;0.019;0.016	B;B;B	0.21917	0.037;0.017;0.013	T	0.67177	-0.5736	9	.	.	.	.	6.0149	0.19596	0.0976:0.0:0.6983:0.204	.	59;59;59	Q547U9;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	K	59	ENSP00000379818:Q59K;ENSP00000385872:Q59K;ENSP00000332549:Q59K;ENSP00000379820:Q59K	.	Q	-	1	0	GRIN2A	10181595	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.165000	0.58196	2.088000	0.63022	0.561000	0.74099	CAG		0.657	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			44	77	1	0	1.8453e-21	0.010771	2.82666e-21	44	77				
DUSP12	11266	broad.mit.edu	37	1	161719654	161719654	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:161719654C>T	ENST00000367943.4	+	1	95	c.63C>T	c.(61-63)gtC>gtT	p.V21V		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	21					cellular protein modification process (GO:0006464)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of glucokinase activity (GO:0033133)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CCAGCAGAGTCAGCTGTGCCG	0.672																																						ENST00000367943.4																			0				breast(1)|endometrium(2)|kidney(1)|lung(1)	5						c.(61-63)gtC>gtT		dual specificity phosphatase 12							16.0	19.0	18.0					1																	161719654		2199	4296	6495	SO:0001819	synonymous_variant	11266				positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding	g.chr1:161719654C>T	AF119226	CCDS1234.1	1q21-q22	2011-06-09			ENSG00000081721	ENSG00000081721		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3067	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog"""	604835				10446167	Standard	XM_005244862		Approved	YVH1, DUSP1	uc001gbo.3	Q9UNI6	OTTHUMG00000034540	ENST00000367943.4:c.63C>T	1.37:g.161719654C>T						DUSP12_ENST00000484291.1_3'UTR	p.V21V	NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		1	95	+	all_hematologic(112;0.0359)		21					Q5VXA8	Silent	SNP	ENST00000367943.4	37	c.63C>T	CCDS1234.1																																																																																				0.672	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083588.1	NM_007240		4	16	0	0	0	0.009096	0	4	16				
PSKH2	85481	broad.mit.edu	37	8	87060915	87060915	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:87060915C>G	ENST00000276616.2	-	3	1008	c.934G>C	c.(934-936)Ggc>Cgc	p.G312R		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	312	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			AGGGCCTGGCCAGCTGACATG	0.512																																						ENST00000276616.2																			0				NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47						c.(934-936)Ggc>Cgc		protein serine kinase H2							79.0	86.0	83.0					8																	87060915		2203	4300	6503	SO:0001583	missense	85481						ATP binding|protein serine/threonine kinase activity	g.chr8:87060915C>G	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.934G>C	8.37:g.87060915C>G	ENSP00000276616:p.Gly312Arg						p.G312R	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	STAD - Stomach adenocarcinoma(118;0.129)		3	1008	-			312			Protein kinase.		A0AV22	Missense_Mutation	SNP	ENST00000276616.2	37	c.934G>C	CCDS6240.1	.	.	.	.	.	.	.	.	.	.	C	9.218	1.032646	0.19590	.	.	ENSG00000147613	ENST00000276616	T	0.64085	-0.08	4.94	3.14	0.36123	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.35998	0.0951	N	0.02202	-0.64	0.24898	N	0.992123	B	0.31705	0.336	B	0.39027	0.288	T	0.30090	-0.9990	9	0.24483	T	0.36	.	4.5473	0.12087	0.1751:0.6377:0.0:0.1872	.	312	Q96QS6	KPSH2_HUMAN	R	312	ENSP00000276616:G312R	ENSP00000276616:G312R	G	-	1	0	PSKH2	87130031	0.039000	0.19947	0.971000	0.41717	0.850000	0.48378	2.346000	0.44027	0.495000	0.27882	0.555000	0.69702	GGC		0.512	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		36	49	0	0	0	0.004289	0	36	49				
LDLRAD4	753	broad.mit.edu	37	18	13621229	13621229	+	Missense_Mutation	SNP	C	C	T	rs375984547		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr18:13621229C>T	ENST00000359446.5	+	4	763	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C	LDLRAD4_ENST00000399848.3_Missense_Mutation_p.R99C|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.R62C|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.R62C|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.R22C|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.R99C	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	99					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)	p.R99C(2)|p.R62C(1)									CTTCATCAACCGCCCGAACCA	0.637																																						ENST00000361205.4																			3	Substitution - Missense(3)	p.R99C(2)|p.R62C(1)	lung(2)|stomach(1)								c.(295-297)Cgc>Tgc		low density lipoprotein receptor class A domain containing 4		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	97.0	80.0	85.0		184,184,121,295,295,121	5.6	1.0	18		85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	C18orf1	NM_001003674.2,NM_001003675.2,NM_004338.3,NM_181481.3,NM_181482.3,NM_181483.3	180,180,180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	62/270,62/252,41/249,99/307,99/289,41/231	13621229	1,13005	2203	4300	6503	SO:0001583	missense	753							g.chr18:13621229C>T	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.295C>T	18.37:g.13621229C>T	ENSP00000352420:p.Arg99Cys					LDLRAD4_ENST00000399848.3_Missense_Mutation_p.R99C|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.R22C|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.R62C|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.R62C|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.R99C	p.R99C	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1					5	963	+								B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.295C>T	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574042	0.86542	0.0	1.16E-4	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.37411	1.2;1.48	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.65059	0.2655	M	0.81341	2.54	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.997;0.999;0.997;0.999;0.999;0.998	T	0.68652	-0.5352	10	0.87932	D	0	0.527	19.156	0.93510	0.0:1.0:0.0:0.0	.	41;41;62;62;99;99	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	C	99;99;62;62;41;41	ENSP00000354753:R99C;ENSP00000382741:R99C	ENSP00000352420:R62C	R	+	1	0	C18orf1	13611229	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	2.684000	0.46951	2.645000	0.89757	0.655000	0.94253	CGC		0.637	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		102	29	0	0	0	0.014410	0	102	29				
WBSCR17	64409	broad.mit.edu	37	7	71142291	71142291	+	Splice_Site	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:71142291G>T	ENST00000333538.5	+	9	2134	c.1500G>T	c.(1498-1500)caG>caT	p.Q500H	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	500	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGGGACCACAGGTAGGAGCTC	0.537																																						ENST00000333538.5																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.e9+1		Williams-Beuren syndrome chromosome region 17							147.0	144.0	145.0					7																	71142291		2203	4300	6503	SO:0001630	splice_region_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71142291G>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1500+1G>T	7.37:g.71142291G>T						WBSCR17_ENST00000498380.2_3'UTR	p.Q500_splice	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			9	2134	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	500			Ricin B-type lectin.		Q8NFV9|Q9NTA8	Splice_Site	SNP	ENST00000333538.5	37	c.1500_splice	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766463	0.90020	.	.	ENSG00000185274	ENST00000333538	T	0.68765	-0.35	5.35	5.35	0.76521	Ricin B-related lectin (1);Ricin B lectin (3);	0.178264	0.51477	N	0.000095	D	0.85522	0.5716	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88003	0.2757	10	0.87932	D	0	.	18.2305	0.89934	0.0:0.0:1.0:0.0	.	500	Q6IS24	GLTL3_HUMAN	H	500	ENSP00000329654:Q500H	ENSP00000329654:Q500H	Q	+	3	2	WBSCR17	70780227	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.258000	0.78371	2.779000	0.95612	0.650000	0.86243	CAG		0.537	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	Missense_Mutation	61	111	1	0	1.03172e-35	0.014410	1.68782e-35	61	111				
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89								p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I89V(4)	prostate(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(265-267)Att>Gtt																																						SO:0001583	missense	284802							g.chr20:29628263A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.265A>G	20.37:g.29628263A>G	ENSP00000278882:p.Ile89Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V	p.I89V							6	645	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.265A>G		.	.	.	.	.	.	.	.	.	.	a	8.196	0.797144	0.16327	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44482	0.92	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.22666	0.0547	.	.	.	0.33862	D	0.633895	B;B	0.06786	0.0;0.001	B;B	0.20767	0.018;0.031	T	0.12041	-1.0563	9	0.22706	T	0.39	.	3.8663	0.09018	0.8139:0.0:0.1861:0.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	89;94;89	ENSP00000408863:I94V	ENSP00000278882:I89V	I	+	1	0	FRG1B	28241924	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.345000	0.59360	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	56	0	0	0	0.001984	0	3	56				
DDI2	84301	broad.mit.edu	37	1	15956910	15956910	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:15956910C>T	ENST00000480945.1	+	3	530	c.359C>T	c.(358-360)tCa>tTa	p.S120L		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	120							aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CAGTCCCACTCATCTCCTGGA	0.542																																						ENST00000480945.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17						c.(358-360)tCa>tTa		DNA-damage inducible 1 homolog 2 (S. cerevisiae)							94.0	87.0	89.0					1																	15956910		2203	4300	6503	SO:0001583	missense	84301				proteolysis		aspartic-type endopeptidase activity	g.chr1:15956910C>T		CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"""				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.359C>T	1.37:g.15956910C>T	ENSP00000417748:p.Ser120Leu						p.S120L	NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	3	530	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	120					A8KAE1|Q7RTZ0|Q9BRT1	Missense_Mutation	SNP	ENST00000480945.1	37	c.359C>T	CCDS30607.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556993	0.45590	.	.	ENSG00000197312	ENST00000480945	T	0.24538	1.85	5.67	3.76	0.43208	.	0.527388	0.18587	U	0.136856	T	0.14614	0.0353	N	0.11313	0.125	0.24772	N	0.992864	B	0.02656	0.0	B	0.01281	0.0	T	0.16276	-1.0408	10	0.37606	T	0.19	-28.6399	12.7461	0.57281	0.0:0.861:0.0:0.139	.	120	Q5TDH0	DDI2_HUMAN	L	120	ENSP00000417748:S120L	ENSP00000449475:S5L	S	+	2	0	DDI2	15829497	0.086000	0.21541	0.994000	0.49952	0.998000	0.95712	2.847000	0.48270	1.379000	0.46325	0.650000	0.86243	TCA		0.542	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1	NM_032341		33	15	0	0	0	0.010818	0	33	15				
CACNA1E	777	broad.mit.edu	37	1	181680164	181680164	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:181680164A>G	ENST00000367573.2	+	8	1130	c.1130A>G	c.(1129-1131)gAg>gGg	p.E377G	CACNA1E_ENST00000358338.5_Missense_Mutation_p.E328G|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E328G|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E377G|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E377G|CACNA1E_ENST00000526775.1_Missense_Mutation_p.E377G	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	377	Binding to the beta subunit. {ECO:0000250}.				calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGCAGATTGAGCGTGAGCTG	0.577																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(1129-1131)gAg>gGg		calcium channel, voltage-dependent, R type, alpha 1E subunit							68.0	74.0	72.0					1																	181680164		1983	4158	6141	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181680164A>G	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1130A>G	1.37:g.181680164A>G	ENSP00000356545:p.Glu377Gly					CACNA1E_ENST00000358338.5_Missense_Mutation_p.E328G|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E377G|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E328G|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E377G|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E377G	p.E377G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			8	1295	+			377			Binding to the beta subunit (By similarity).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.1130A>G	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535069	0.85812	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.95554	-3.74;-3.74;-3.74;-3.74;-3.74;-3.74;-3.74	5.29	4.17	0.49024	.	0.175740	0.50627	N	0.000103	D	0.96178	0.8754	M	0.89414	3.03	0.80722	D	1	B;B	0.29301	0.241;0.241	B;B	0.39217	0.294;0.199	D	0.94839	0.8003	10	0.87932	D	0	.	10.7014	0.45928	0.9238:0.0:0.0762:0.0	.	377;377	Q15878-2;Q15878-3	.;.	G	377;377;377;328;328;377;377	ENSP00000432038:E377G;ENSP00000356542:E377G;ENSP00000434814:E377G;ENSP00000350183:E328G;ENSP00000351101:E328G;ENSP00000353222:E377G;ENSP00000356545:E377G	ENSP00000350183:E328G	E	+	2	0	CACNA1E	179946787	1.000000	0.71417	0.962000	0.40283	0.936000	0.57629	9.197000	0.94985	0.861000	0.35504	0.533000	0.62120	GAG		0.577	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		39	98	0	0	0	0.007835	0	39	98				
CD226	10666	broad.mit.edu	37	18	67614187	67614187	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr18:67614187G>A	ENST00000280200.4	-	3	433	c.165C>T	c.(163-165)acC>acT	p.T55T	CD226_ENST00000582621.1_Silent_p.T55T|CD226_ENST00000577287.1_Intron|CD226_ENST00000581982.1_Intron	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	55	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				AATCCTGCTGGGTCCCGATCT	0.463																																					NSCLC(184;838 2130 8673 21498 50749)	ENST00000280200.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24						c.(163-165)acC>acT		CD226 molecule							110.0	91.0	98.0					18																	67614187		2203	4300	6503	SO:0001819	synonymous_variant	10666				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	g.chr18:67614187G>A	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.165C>T	18.37:g.67614187G>A						CD226_ENST00000582621.1_Silent_p.T55T|CD226_ENST00000581982.1_Intron|CD226_ENST00000577287.1_Intron	p.T55T	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN			3	433	-		Esophageal squamous(42;0.129)	55			Ig-like C2-type 1.		B2R818	Silent	SNP	ENST00000280200.4	37	c.165C>T	CCDS11997.1																																																																																				0.463	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566		21	15	0	0	0	0.012319	0	21	15				
TRRAP	8295	broad.mit.edu	37	7	98581764	98581764	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:98581764A>G	ENST00000359863.4	+	60	9292	c.9083A>G	c.(9082-9084)aAt>aGt	p.N3028S	TRRAP_ENST00000446306.3_Missense_Mutation_p.N2999S|TRRAP_ENST00000355540.3_Missense_Mutation_p.N2999S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3028	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCAGTTCAAATAACGCTATG	0.448																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(9082-9084)aAt>aGt		transformation/transcription domain-associated protein							131.0	121.0	125.0					7																	98581764		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98581764A>G	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9083A>G	7.37:g.98581764A>G	ENSP00000352925:p.Asn3028Ser					TRRAP_ENST00000355540.3_Missense_Mutation_p.N2999S|TRRAP_ENST00000446306.3_Missense_Mutation_p.N2999S	p.N3028S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		60	9292	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3028			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.9083A>G	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.920|9.920	1.211956|1.211956	0.22289|0.22289	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.62232	.|4.14;0.04	5.26|5.26	5.26|5.26	0.73747|0.73747	.|PIK-related kinase (1);PIK-related kinase, FAT (1);	.|0.050083	.|0.85682	.|D	.|0.000000	T|T	0.42177|0.42177	0.1191|0.1191	N|N	0.16130|0.16130	0.375|0.375	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.27416	.|0.147;0.097;0.178	.|B;B;B	.|0.28709	.|0.082;0.052;0.093	T|T	0.39375|0.39375	-0.9617|-0.9617	5|10	.|0.02654	.|T	.|1	.|.	15.1768|15.1768	0.72920|0.72920	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|2999;2738;3028	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	V|S	2739|3028;2999;2998	.|ENSP00000352925:N3028S;ENSP00000347733:N2999S	.|ENSP00000347733:N2999S	I|N	+|+	1|2	0|0	TRRAP|TRRAP	98419700|98419700	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.992000|0.992000	0.81027|0.81027	7.469000|7.469000	0.80959|0.80959	2.008000|2.008000	0.58898|0.58898	0.533000|0.533000	0.62120|0.62120	ATA|AAT		0.448	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		43	62	0	0	0	0.006999	0	43	62				
SLC2A2	6514	broad.mit.edu	37	3	170716928	170716928	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr3:170716928G>T	ENST00000314251.3	-	9	1175	c.1096C>A	c.(1096-1098)Cgt>Agt	p.R366S	SLC2A2_ENST00000382808.4_Missense_Mutation_p.R247S	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	366					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	AAGAGAGAACGTCGCCCTGCC	0.398																																						ENST00000314251.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1096-1098)Cgt>Agt		solute carrier family 2 (facilitated glucose transporter), member 2							156.0	138.0	144.0					3																	170716928		2203	4300	6503	SO:0001583	missense	6514				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	g.chr3:170716928G>T	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.1096C>A	3.37:g.170716928G>T	ENSP00000323568:p.Arg366Ser					SLC2A2_ENST00000382808.4_Missense_Mutation_p.R247S	p.R366S	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		9	1175	-	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		366					A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	37	c.1096C>A	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875034	0.51695	.	.	ENSG00000163581	ENST00000314251;ENST00000382808	D;D	0.84660	-1.88;-1.88	4.96	4.96	0.65561	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95220	0.8450	H	0.98333	4.205	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.96295	0.9217	10	0.87932	D	0	.	13.712	0.62674	0.0:0.0:0.8461:0.1539	.	366	P11168	GTR2_HUMAN	S	366;247	ENSP00000323568:R366S;ENSP00000372258:R247S	ENSP00000323568:R366S	R	-	1	0	SLC2A2	172199622	0.993000	0.37304	0.997000	0.53966	0.289000	0.27227	2.285000	0.43487	2.739000	0.93911	0.655000	0.94253	CGT		0.398	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		39	107	1	0	2.54651e-27	0.006999	3.9915e-27	39	107				
KIDINS220	57498	broad.mit.edu	37	2	8936972	8936972	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:8936972T>C	ENST00000256707.3	-	11	1208	c.1027A>G	c.(1027-1029)Acc>Gcc	p.T343A	KIDINS220_ENST00000473731.1_Missense_Mutation_p.T343A|KIDINS220_ENST00000427284.1_Missense_Mutation_p.T343A|KIDINS220_ENST00000418530.1_Missense_Mutation_p.T301A|KIDINS220_ENST00000319688.5_Missense_Mutation_p.T344A	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	343					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTCATCTTGGTAGCCTTTATA	0.418																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(1027-1029)Acc>Gcc		kinase D-interacting substrate, 220kDa							244.0	239.0	241.0					2																	8936972		1979	4167	6146	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8936972T>C	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1027A>G	2.37:g.8936972T>C	ENSP00000256707:p.Thr343Ala					KIDINS220_ENST00000319688.5_Missense_Mutation_p.T344A|KIDINS220_ENST00000427284.1_Missense_Mutation_p.T343A|KIDINS220_ENST00000418530.1_Missense_Mutation_p.T301A|KIDINS220_ENST00000473731.1_Missense_Mutation_p.T343A	p.T343A	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			11	1208	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		343					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.1027A>G	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.831958	0.50845	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.11	5.11	0.69529	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.40398	0.1115	N	0.00661	-1.28	0.54753	D	0.999987	D;D;P;D	0.76494	0.979;0.97;0.947;0.999	D;D;P;D	0.91635	0.982;0.919;0.907;0.999	T	0.57952	-0.7722	10	0.18276	T	0.48	.	15.1758	0.72910	0.0:0.0:0.0:1.0	.	344;344;301;343	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	A	90;27;343;343;301;343;344;344	ENSP00000420364:T90A;ENSP00000256707:T343A;ENSP00000411849:T343A;ENSP00000414923:T301A;ENSP00000418974:T343A;ENSP00000419964:T344A;ENSP00000319947:T344A	ENSP00000256707:T343A	T	-	1	0	KIDINS220	8854423	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	7.606000	0.82863	2.053000	0.61076	0.482000	0.46254	ACC		0.418	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		64	121	0	0	0	0.014410	0	64	121				
KIAA1244	57221	broad.mit.edu	37	6	138601217	138601217	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:138601217G>A	ENST00000251691.4	+	14	2543	c.2377G>A	c.(2377-2379)Gtg>Atg	p.V793M		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTACCATCAGGTGCTCGACAG	0.552																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(2377-2379)Gtg>Atg		KIAA1244							120.0	103.0	109.0					6																	138601217		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138601217G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2377G>A	6.37:g.138601217G>A	ENSP00000251691:p.Val793Met						p.V793M	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	14	2543	+	Breast(32;0.135)		793			SEC7.			Missense_Mutation	SNP	ENST00000251691.4	37	c.2377G>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	31	5.064239	0.93898	.	.	ENSG00000112379	ENST00000251691	T	0.51574	0.7	5.86	5.86	0.93980	SEC7-like (1);	0.112704	0.64402	D	0.000013	T	0.63920	0.2552	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.64778	-0.6327	10	0.87932	D	0	-35.5157	20.1772	0.98182	0.0:0.0:1.0:0.0	.	793	Q5TH69	BIG3_HUMAN	M	793	ENSP00000251691:V793M	ENSP00000251691:V793M	V	+	1	0	KIAA1244	138642910	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.409000	0.97331	2.778000	0.95560	0.655000	0.94253	GTG		0.552	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		28	29	0	0	0	0.006320	0	28	29				
OR4Q3	441669	broad.mit.edu	37	14	20216179	20216179	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr14:20216179T>A	ENST00000331723.1	+	1	593	c.593T>A	c.(592-594)gTg>gAg	p.V198E		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGTAGAGGTGCTGGTGATA	0.493																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(592-594)gTg>gAg		olfactory receptor, family 4, subfamily Q, member 3							207.0	162.0	177.0					14																	20216179		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216179T>A	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.593T>A	14.37:g.20216179T>A	ENSP00000330049:p.Val198Glu						p.V198E	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	593	+	all_cancers(95;0.00108)		198					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.593T>A	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	11.54	1.668942	0.29604	.	.	ENSG00000182652	ENST00000331723	T	0.00193	8.58	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.226592	0.21659	U	0.071050	T	0.00356	0.0011	L	0.47016	1.485	0.09310	N	1	D	0.58620	0.983	P	0.61477	0.889	T	0.56619	-0.7949	10	0.87932	D	0	.	11.2781	0.49178	0.0:0.0:0.0:1.0	.	198	Q8NH05	OR4Q3_HUMAN	E	198	ENSP00000330049:V198E	ENSP00000330049:V198E	V	+	2	0	OR4Q3	19286019	0.001000	0.12720	0.410000	0.26471	0.033000	0.12548	0.958000	0.29227	1.758000	0.51981	0.416000	0.27883	GTG		0.493	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			25	36	0	0	0	0.002780	0	25	36				
TTN	7273	broad.mit.edu	37	2	179465721	179465721	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:179465721C>A	ENST00000591111.1	-	238	51211	c.50987G>T	c.(50986-50988)cGt>cTt	p.R16996L	TTN_ENST00000460472.2_Missense_Mutation_p.R9572L|TTN_ENST00000359218.5_Missense_Mutation_p.R9697L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9764L|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18637L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R16069L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16996	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCACATCACGCTTATTGCA	0.488																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(55909-55911)cGt>cTt		titin							148.0	156.0	153.0					2																	179465721		2170	4281	6451	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179465721C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50987G>T	2.37:g.179465721C>A	ENSP00000465570:p.Arg16996Leu					TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9697L|TTN_ENST00000342992.6_Missense_Mutation_p.R16069L|TTN_ENST00000342175.6_Missense_Mutation_p.R9764L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16996L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9572L	p.R18637L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	56134	-			16996			Fibronectin type-III 35.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.55910G>T		.	.	.	.	.	.	.	.	.	.	C	16.16	3.045832	0.55110	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65883	0.2734	L	0.35341	1.055	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.67397	-0.5681	9	0.87932	D	0	.	20.0781	0.97751	0.0:1.0:0.0:0.0	.	9572;9697;9764;16996	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	16069;9572;9764;9697;9572	ENSP00000343764:R16069L;ENSP00000434586:R9572L;ENSP00000340554:R9764L;ENSP00000352154:R9697L	ENSP00000340554:R9764L	R	-	2	0	TTN	179173966	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.520000	0.81821	2.817000	0.96982	0.563000	0.77884	CGT		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		138	102	1	0	2.82259e-58	0.014410	4.68578e-58	138	102				
CCDC150	284992	broad.mit.edu	37	2	197538986	197538986	+	Missense_Mutation	SNP	A	A	G	rs36060491		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:197538986A>G	ENST00000389175.4	+	10	1186	c.1051A>G	c.(1051-1053)Aaa>Gaa	p.K351E	CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000423093.2_Missense_Mutation_p.K19E|CCDC150_ENST00000272831.7_Missense_Mutation_p.K19E	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	351										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CCAATTGACTAAAAAGTGTTC	0.343																																						ENST00000389175.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1051-1053)Aaa>Gaa		coiled-coil domain containing 150							85.0	85.0	85.0					2																	197538986		1891	4121	6012	SO:0001583	missense	284992							g.chr2:197538986A>G		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1051A>G	2.37:g.197538986A>G	ENSP00000373827:p.Lys351Glu					CCDC150_ENST00000272831.7_Missense_Mutation_p.K19E|CCDC150_ENST00000423093.2_Missense_Mutation_p.K19E|CCDC150_ENST00000472405.2_3'UTR	p.K351E	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			10	1186	+			351					Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.1051A>G	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.021320	0.00414	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000423093	T	0.36878	1.23	5.17	4.0	0.46444	.	0.952786	0.08687	N	0.908552	T	0.31071	0.0785	L	0.44542	1.39	0.09310	N	1	B;B	0.19200	0.034;0.034	B;B	0.22601	0.04;0.04	T	0.32640	-0.9899	10	0.16420	T	0.52	-0.0244	9.4296	0.38601	0.6501:0.3499:0.0:0.0	.	19;351	B4DZ03;Q8NCX0	.;CC150_HUMAN	E	19;351;19	ENSP00000373827:K351E	ENSP00000272831:K19E	K	+	1	0	CCDC150	197247231	0.012000	0.17670	0.003000	0.11579	0.093000	0.18481	2.256000	0.43231	0.958000	0.37956	0.482000	0.46254	AAA		0.343	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		7	9	0	0	0	0.001984	0	7	9				
OGDHL	55753	broad.mit.edu	37	10	50945898	50945898	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr10:50945898T>A	ENST00000374103.4	-	20	2609	c.2524A>T	c.(2524-2526)Atc>Ttc	p.I842F	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.I633F|OGDHL_ENST00000419399.1_Missense_Mutation_p.I785F	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	842					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGTGTGAAGATAATCAGCTGG	0.617																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(2524-2526)Atc>Ttc		oxoglutarate dehydrogenase-like							73.0	87.0	82.0					10																	50945898		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50945898T>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2524A>T	10.37:g.50945898T>A	ENSP00000363216:p.Ile842Phe					OGDHL_ENST00000432695.1_Missense_Mutation_p.I633F|OGDHL_ENST00000419399.1_Missense_Mutation_p.I785F|OGDHL_ENST00000490844.1_5'UTR	p.I842F	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			20	2609	-			842					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.2524A>T	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.748980	0.69533	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.91351	-2.83;-2.83;-2.83	5.19	-0.534	0.11883	Transketolase-like, pyrimidine-binding domain (2);	0.248550	0.38605	N	0.001624	D	0.91626	0.7354	M	0.79475	2.455	0.46298	D	0.998979	B;B;B	0.31209	0.112;0.313;0.136	B;B;P	0.44477	0.14;0.444;0.451	D	0.88690	0.3208	10	0.72032	D	0.01	.	10.9565	0.47360	0.0:0.4469:0.0:0.5531	.	785;633;842	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	F	842;785;633	ENSP00000363216:I842F;ENSP00000401356:I785F;ENSP00000390240:I633F	ENSP00000363216:I842F	I	-	1	0	OGDHL	50615904	0.010000	0.17322	0.981000	0.43875	0.993000	0.82548	-0.085000	0.11250	-0.061000	0.13110	0.528000	0.53228	ATC		0.617	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		33	50	0	0	0	0.010818	0	33	50				
PKD2L1	9033	broad.mit.edu	37	10	102050202	102050202	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr10:102050202C>A	ENST00000318222.3	-	13	2464	c.2082G>T	c.(2080-2082)gaG>gaT	p.E694D	PKD2L1_ENST00000338519.3_Missense_Mutation_p.E619D|PKD2L1_ENST00000353274.3_Missense_Mutation_p.E694D	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	694					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTCTGGCAGCCTCTGGACCCG	0.527																																						ENST00000318222.3																			0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2080-2082)gaG>gaT		polycystic kidney disease 2-like 1							67.0	58.0	61.0					10																	102050202		2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102050202C>A	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.2082G>T	10.37:g.102050202C>A	ENSP00000325296:p.Glu694Asp					PKD2L1_ENST00000338519.3_Missense_Mutation_p.E619D|PKD2L1_ENST00000353274.3_Missense_Mutation_p.E694D	p.E694D	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	13	2464	-		Colorectal(252;0.117)	694					O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.2082G>T	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	3.893	-0.023639	0.07634	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.60797	0.36;0.16;0.22	5.05	3.12	0.35913	.	0.637137	0.15380	N	0.265346	T	0.37732	0.1014	L	0.28274	0.84	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.13415	-1.0510	10	0.24483	T	0.36	-14.4003	4.5268	0.11985	0.3044:0.527:0.0:0.1686	.	647;694	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	D	619;694;694;692	ENSP00000345068:E619D;ENSP00000266049:E694D;ENSP00000325296:E694D	ENSP00000325296:E694D	E	-	3	2	PKD2L1	102040192	0.000000	0.05858	0.994000	0.49952	0.087000	0.18053	-0.057000	0.11768	1.130000	0.42092	0.313000	0.20887	GAG		0.527	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		8	23	1	0	0.000157383	0.003080	0.000187414	8	23				
WNT8B	7479	broad.mit.edu	37	10	102241771	102241771	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr10:102241771G>A	ENST00000343737.5	+	5	598	c.470G>A	c.(469-471)cGg>cAg	p.R157Q		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	157					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|negative regulation of gene expression (GO:0010629)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of gene expression (GO:0010628)|response to estradiol (GO:0032355)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		CAGGATGCACGGGCAGCCATG	0.592											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000343737.5																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)	4						c.(469-471)cGg>cAg		wingless-type MMTV integration site family, member 8B							102.0	91.0	94.0					10																	102241771		2203	4300	6503	SO:0001583	missense	7479				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr10:102241771G>A	X91940	CCDS7494.1	10q24	2003-11-12			ENSG00000075290	ENSG00000075290		"""Wingless-type MMTV integration sites"""	12789	protein-coding gene	gene with protein product		601396				8661156	Standard	NM_003393		Approved		uc001krb.3	Q93098	OTTHUMG00000018912	ENST00000343737.5:c.470G>A	10.37:g.102241771G>A	ENSP00000340677:p.Arg157Gln		OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1365		p.R157Q	NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)	5	598	+		Colorectal(252;0.117)	157					O00771|Q5VX55|Q8WYK9	Missense_Mutation	SNP	ENST00000343737.5	37	c.470G>A	CCDS7494.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001882	0.93227	.	.	ENSG00000075290	ENST00000343737	T	0.76968	-1.06	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.87313	0.6146	M	0.62209	1.925	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87967	0.2734	10	0.87932	D	0	.	19.4761	0.94989	0.0:0.0:1.0:0.0	.	157	Q93098	WNT8B_HUMAN	Q	157	ENSP00000340677:R157Q	ENSP00000340677:R157Q	R	+	2	0	WNT8B	102231761	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.682000	0.91365	0.561000	0.74099	CGG		0.592	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049867.1	NM_003393		25	48	0	0	0	0.004656	0	25	48				
RFX5	5993	broad.mit.edu	37	1	151315026	151315026	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:151315026G>C	ENST00000290524.4	-	11	1665	c.1487C>G	c.(1486-1488)tCa>tGa	p.S496*	RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000368870.2_Nonsense_Mutation_p.S496*|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452671.2_Nonsense_Mutation_p.S496*|RFX5_ENST00000452513.2_Nonsense_Mutation_p.S456*	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	496					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGGTAACCTTGAGGACTGGGC	0.577																																						ENST00000290524.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(1486-1488)tCa>tGa		regulatory factor X, 5 (influences HLA class II expression)							129.0	140.0	136.0					1																	151315026		2203	4300	6503	SO:0001587	stop_gained	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151315026G>C		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.1487C>G	1.37:g.151315026G>C	ENSP00000290524:p.Ser496*					RFX5_ENST00000452671.2_Nonsense_Mutation_p.S496*|RFX5_ENST00000452513.2_Nonsense_Mutation_p.S456*|RFX5_ENST00000368870.2_Nonsense_Mutation_p.S496*	p.S496*	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		11	1665	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		496					B7Z848|D3DV19|E9PFU4|Q5VWC3	Nonsense_Mutation	SNP	ENST00000290524.4	37	c.1487C>G	CCDS994.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195412	0.78902	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000452671;ENST00000452513;ENST00000392746	.	.	.	5.42	3.5	0.40072	.	0.638481	0.14751	N	0.300615	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-2.1499	8.0684	0.30674	0.0825:0.3031:0.6144:0.0	.	.	.	.	X	496;496;496;456;496	.	ENSP00000290524:S496X	S	-	2	0	RFX5	149581650	0.090000	0.21635	0.068000	0.19968	0.462000	0.32619	1.556000	0.36288	1.512000	0.48834	0.491000	0.48974	TCA		0.577	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		83	194	0	0	0	0.014410	0	83	194				
FBXL7	23194	broad.mit.edu	37	5	15616151	15616151	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:15616151A>G	ENST00000504595.1	+	2	578	c.97A>G	c.(97-99)Aaa>Gaa	p.K33E	FBXL7_ENST00000510662.1_5'UTR|FBXL7_ENST00000329673.7_Missense_Mutation_p.K21E	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	33					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CACGCCCACTAAAGCCCAGAA	0.453																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(97-99)Aaa>Gaa		F-box and leucine-rich repeat protein 7							85.0	86.0	86.0					5																	15616151		1998	4177	6175	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15616151A>G	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.97A>G	5.37:g.15616151A>G	ENSP00000423630:p.Lys33Glu					FBXL7_ENST00000510662.1_5'UTR|FBXL7_ENST00000329673.7_Missense_Mutation_p.K21E	p.K33E	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			2	578	+			33					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.97A>G	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	A	14.81	2.647095	0.47258	.	.	ENSG00000183580	ENST00000504595;ENST00000329673	T;T	0.13778	2.64;2.56	5.9	4.84	0.62591	.	0.276068	0.33127	N	0.005259	T	0.08537	0.0212	N	0.24115	0.695	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.09930	-1.0652	10	0.07030	T	0.85	.	11.5371	0.50643	0.7868:0.2132:0.0:0.0	.	33	Q9UJT9	FBXL7_HUMAN	E	33;21	ENSP00000423630:K33E;ENSP00000329632:K21E	ENSP00000329632:K21E	K	+	1	0	FBXL7	15669151	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.934000	0.75880	1.227000	0.43598	0.533000	0.62120	AAA		0.453	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		10	25	0	0	0	0.013537	0	10	25				
FMN2	56776	broad.mit.edu	37	1	240370643	240370643	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:240370643C>T	ENST00000319653.9	+	5	2761	c.2531C>T	c.(2530-2532)tCt>tTt	p.S844F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	844	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACGAACACTCTGTTTCCTCT	0.562																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2530-2532)tCt>tTt		formin 2							111.0	106.0	107.0					1																	240370643		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370643C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2531C>T	1.37:g.240370643C>T	ENSP00000318884:p.Ser844Phe						p.S844F	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2761	+	Ovarian(103;0.127)	all_cancers(173;0.013)	844			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2531C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	5.809	0.333470	0.11013	.	.	ENSG00000155816	ENST00000319653	T	0.35605	1.3	4.09	2.18	0.27775	Actin-binding FH2/DRF autoregulatory (1);	0.758933	0.11961	N	0.512711	T	0.23210	0.0561	L	0.32530	0.975	0.27490	N	0.952318	B	0.10296	0.003	B	0.08055	0.003	T	0.17289	-1.0374	9	.	.	.	.	5.098	0.14745	0.179:0.6482:0.0:0.1728	.	844	Q9NZ56	FMN2_HUMAN	F	844	ENSP00000318884:S844F	.	S	+	2	0	FMN2	238437266	0.000000	0.05858	0.324000	0.25361	0.504000	0.33889	0.282000	0.18829	1.048000	0.40298	0.555000	0.69702	TCT		0.562	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		73	68	0	0	0	0.014410	0	73	68				
TBX3	6926	broad.mit.edu	37	12	115109999	115109999	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr12:115109999G>A	ENST00000257566.3	-	8	2268	c.1879C>T	c.(1879-1881)Ccc>Tcc	p.P627S	TBX3_ENST00000349155.2_Missense_Mutation_p.P607S	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	627	Transcription repression.			SAAASSSVHRHPF -> LRQPQLRCTAPL (in Ref. 1). {ECO:0000305}.	anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TTGAGGAAGGGGTGGCGGTGC	0.682																																						ENST00000349155.2																			0				breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1819-1821)Ccc>Tcc		T-box 3							10.0	8.0	9.0					12																	115109999		2155	4245	6400	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115109999G>A	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1879C>T	12.37:g.115109999G>A	ENSP00000257566:p.Pro627Ser					TBX3_ENST00000257566.3_Missense_Mutation_p.P627S	p.P607S	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	7	2782	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		627			Transcription repression.		Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.1819C>T	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913670	0.52439	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.88818	-2.39;-2.43	4.62	2.76	0.32466	.	1.389650	0.04711	N	0.417699	D	0.86322	0.5905	L	0.39397	1.21	0.54753	D	0.999984	B;B	0.21147	0.052;0.011	B;B	0.29176	0.099;0.014	T	0.72265	-0.4344	10	0.48119	T	0.1	.	8.9949	0.36045	0.185:0.0:0.815:0.0	.	607;627	O15119-2;O15119	.;TBX3_HUMAN	S	607;627;501	ENSP00000257567:P607S;ENSP00000257566:P627S	ENSP00000257566:P627S	P	-	1	0	TBX3	113594382	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.092000	0.76930	0.930000	0.37217	0.655000	0.94253	CCC		0.682	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		3	2	0	0	0	0.004672	0	3	2				
PBX2	5089	broad.mit.edu	37	6	32154610	32154610	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:32154610C>T	ENST00000375050.4	-	7	1363	c.1093G>A	c.(1093-1095)Gat>Aat	p.D365N	AGER_ENST00000375076.4_5'Flank|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000375070.3_5'Flank|AGER_ENST00000375069.3_5'Flank|AGER_ENST00000375055.2_5'Flank|AGER_ENST00000375065.5_5'Flank|AGER_ENST00000375067.3_5'Flank|AGER_ENST00000438221.2_5'Flank|AGER_ENST00000538695.1_5'Flank	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	365					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GAATAGGAATCTCCGTTGAGC	0.512																																						ENST00000375050.4																			0				endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						c.(1093-1095)Gat>Aat		pre-B-cell leukemia homeobox 2							78.0	76.0	77.0					6																	32154610		2203	4300	6503	SO:0001583	missense	5089						transcription factor binding	g.chr6:32154610C>T		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.1093G>A	6.37:g.32154610C>T	ENSP00000364190:p.Asp365Asn						p.D365N	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN			7	1363	-			365					A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	c.1093G>A	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894516	0.72639	.	.	ENSG00000204304	ENST00000375050	D	0.87729	-2.29	4.99	4.99	0.66335	.	0.000000	0.52532	D	0.000076	D	0.83529	0.5274	L	0.54323	1.7	0.42793	D	0.993907	P	0.45672	0.864	P	0.46543	0.52	D	0.83463	0.0055	10	0.38643	T	0.18	-13.195	15.8213	0.78648	0.0:1.0:0.0:0.0	.	365	P40425	PBX2_HUMAN	N	365	ENSP00000364190:D365N	ENSP00000364190:D365N	D	-	1	0	PBX2	32262588	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.384000	0.66225	2.606000	0.88127	0.561000	0.74099	GAT		0.512	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			30	55	0	0	0	0.012213	0	30	55				
OR4X2	119764	broad.mit.edu	37	11	48267430	48267430	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:48267430A>G	ENST00000302329.3	+	1	823	c.775A>G	c.(775-777)Ata>Gta	p.I259V		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CACTCTGCCCATAGACAAGAT	0.512																																						ENST00000302329.3																			0				breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(775-777)Ata>Gta		olfactory receptor, family 4, subfamily X, member 2							79.0	69.0	73.0					11																	48267430		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48267430A>G	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.775A>G	11.37:g.48267430A>G	ENSP00000307751:p.Ile259Val						p.I259V	NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN			1	823	+			259					B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.775A>G	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	A	0.110	-1.139554	0.01728	.	.	ENSG00000172208	ENST00000302329	T	0.00115	8.71	5.37	1.22	0.21188	GPCR, rhodopsin-like superfamily (1);	0.754501	0.11671	N	0.540801	T	0.00109	0.0003	L	0.31752	0.955	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.03717	-1.1010	10	0.23891	T	0.37	.	4.6149	0.12420	0.3381:0.157:0.5049:0.0	.	259	Q8NGF9	OR4X2_HUMAN	V	259	ENSP00000307751:I259V	ENSP00000307751:I259V	I	+	1	0	OR4X2	48224006	0.000000	0.05858	0.051000	0.19133	0.544000	0.35116	-1.124000	0.03260	0.622000	0.30249	-0.182000	0.12963	ATA		0.512	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		26	32	0	0	0	0.003330	0	26	32				
COL19A1	1310	broad.mit.edu	37	6	70856592	70856592	+	Silent	SNP	A	A	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:70856592A>T	ENST00000322773.4	+	26	1914	c.1812A>T	c.(1810-1812)ccA>ccT	p.P604P	COL19A1_ENST00000393344.1_Silent_p.P226P	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	604	Collagen-like 5.|Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CACGTGGGCCAAAGGTATACA	0.323																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(1810-1812)ccA>ccT		collagen, type XIX, alpha 1							37.0	41.0	39.0					6																	70856592		2203	4300	6503	SO:0001819	synonymous_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70856592A>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1812A>T	6.37:g.70856592A>T						COL19A1_ENST00000393344.1_Silent_p.P226P	p.P604P	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			26	1914	+			604			Triple-helical region 3 (COL3).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	c.1812A>T	CCDS4970.1																																																																																				0.323	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			5	11	0	0	0	0.001168	0	5	11				
CDH17	1015	broad.mit.edu	37	8	95174380	95174380	+	Silent	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:95174380G>T	ENST00000027335.3	-	11	1417	c.1293C>A	c.(1291-1293)acC>acA	p.T431T	CDH17_ENST00000441892.2_Silent_p.T217T|CDH17_ENST00000450165.2_Silent_p.T431T	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	431	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CAAAACAAAGGGTCTTGAAAT	0.313																																						ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(1291-1293)acC>acA		cadherin 17, LI cadherin (liver-intestine)							95.0	93.0	94.0					8																	95174380		2203	4300	6503	SO:0001819	synonymous_variant	1015					integral to membrane	calcium ion binding	g.chr8:95174380G>T	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1293C>A	8.37:g.95174380G>T						CDH17_ENST00000441892.2_Silent_p.T217T|CDH17_ENST00000450165.2_Silent_p.T431T	p.T431T	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		11	1417	-	Breast(36;4.65e-06)		431			Cadherin 4.		Q15336|Q2M2E0	Silent	SNP	ENST00000027335.3	37	c.1293C>A	CCDS6260.1																																																																																				0.313	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		13	30	1	0	6.72482e-11	0.003163	8.81815e-11	13	30				
OR5P2	120065	broad.mit.edu	37	11	7818034	7818034	+	Silent	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:7818034A>G	ENST00000329434.2	-	1	486	c.456T>C	c.(454-456)gcT>gcC	p.A152A	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TATAGGAGACAGCAATGAGAA	0.388																																						ENST00000329434.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22						c.(454-456)gcT>gcC		olfactory receptor, family 5, subfamily P, member 2							61.0	73.0	69.0					11																	7818034		2098	4292	6390	SO:0001819	synonymous_variant	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7818034A>G	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.456T>C	11.37:g.7818034A>G						RP11-35J10.5_ENST00000527565.1_lincRNA	p.A152A	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	486	-			152					Q3MIS8	Silent	SNP	ENST00000329434.2	37	c.456T>C	CCDS7782.1																																																																																				0.388	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		31	44	0	0	0	0.010818	0	31	44				
LRP4	4038	broad.mit.edu	37	11	46908046	46908046	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:46908046T>C	ENST00000378623.1	-	17	2496	c.2254A>G	c.(2254-2256)Atc>Gtc	p.I752V		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	752					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ATTCGACGGATGTCCATCCTT	0.517																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(2254-2256)Atc>Gtc		low density lipoprotein receptor-related protein 4							83.0	67.0	73.0					11																	46908046		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46908046T>C	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2254A>G	11.37:g.46908046T>C	ENSP00000367888:p.Ile752Val						p.I752V	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	17	2496	-			752					B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.2254A>G	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.724776	0.89298	.	.	ENSG00000134569	ENST00000378623	D	0.91996	-2.95	5.48	5.48	0.80851	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.89767	0.6810	L	0.49350	1.555	0.80722	D	1	B	0.33103	0.397	B	0.33799	0.17	D	0.88573	0.3131	10	0.40728	T	0.16	.	15.5763	0.76392	0.0:0.0:0.0:1.0	.	752	O75096	LRP4_HUMAN	V	752	ENSP00000367888:I752V	ENSP00000367888:I752V	I	-	1	0	LRP4	46864622	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.671000	0.83941	2.089000	0.63090	0.459000	0.35465	ATC		0.517	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		25	34	0	0	0	0.006320	0	25	34				
ZNF804B	219578	broad.mit.edu	37	7	88847532	88847532	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:88847532G>T	ENST00000333190.4	+	2	781	c.172G>T	c.(172-174)Gaa>Taa	p.E58*		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	58							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTTTTACTGTGAATTATGTGA	0.368										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(172-174)Gaa>Taa		zinc finger protein 804B							98.0	95.0	96.0					7																	88847532		2203	4300	6503	SO:0001587	stop_gained	219578					intracellular	zinc ion binding	g.chr7:88847532G>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.172G>T	7.37:g.88847532G>T	ENSP00000329638:p.Glu58*	HNSCC(36;0.09)					p.E58*	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		2	781	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		58					B2RTV2|Q7Z714|Q96MN7	Nonsense_Mutation	SNP	ENST00000333190.4	37	c.172G>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	43	9.950189	0.99303	.	.	ENSG00000182348	ENST00000333190	.	.	.	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.4128	19.1711	0.93578	0.0:0.0:1.0:0.0	.	.	.	.	X	58	.	ENSP00000329638:E58X	E	+	1	0	ZNF804B	88685468	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.774000	0.95407	0.484000	0.47621	GAA		0.368	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		26	29	1	0	1.1804e-14	0.003954	1.6506e-14	26	29				
ANKRD50	57182	broad.mit.edu	37	4	125600031	125600031	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr4:125600031T>G	ENST00000504087.1	-	3	1579	c.542A>C	c.(541-543)aAg>aCg	p.K181T	ANKRD50_ENST00000515641.1_Missense_Mutation_p.K2T	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	181										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTGGGGAGGCTTCATTCCCAG	0.398																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(541-543)aAg>aCg		ankyrin repeat domain 50							119.0	122.0	121.0					4																	125600031		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125600031T>G	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.542A>C	4.37:g.125600031T>G	ENSP00000425658:p.Lys181Thr					ANKRD50_ENST00000515641.1_Missense_Mutation_p.K2T	p.K181T	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			3	1579	-			181					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.542A>C	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.929521	0.34096	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.66280	2.16;-0.2	5.81	5.81	0.92471	.	0.261280	0.36972	N	0.002320	T	0.55970	0.1954	L	0.49455	1.56	0.46044	D	0.998838	B	0.11235	0.004	B	0.09377	0.004	T	0.52540	-0.8562	10	0.14252	T	0.57	.	16.1564	0.81670	0.0:0.0:0.0:1.0	.	181	Q9ULJ7	ANR50_HUMAN	T	181;2	ENSP00000425658:K181T;ENSP00000425355:K2T	ENSP00000425658:K181T	K	-	2	0	ANKRD50	125819481	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	4.295000	0.59049	2.228000	0.72767	0.477000	0.44152	AAG		0.398	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		3	99	0	0	0	0.004672	0	3	99				
FAM135B	51059	broad.mit.edu	37	8	139165165	139165165	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:139165165C>A	ENST00000395297.1	-	13	1723	c.1553G>T	c.(1552-1554)tGt>tTt	p.C518F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	518								p.C518F(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCCAGTCCAACATTCATCTTC	0.463										HNSCC(54;0.14)																												ENST00000395297.1																			2	Substitution - Missense(2)	p.C518F(2)	lung(2)	NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(1552-1554)tGt>tTt		family with sequence similarity 135, member B							134.0	127.0	129.0					8																	139165165		1959	4148	6107	SO:0001583	missense	51059							g.chr8:139165165C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1553G>T	8.37:g.139165165C>A	ENSP00000378710:p.Cys518Phe	HNSCC(54;0.14)					p.C518F	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1723	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		518					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1553G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	8.679	0.904754	0.17760	.	.	ENSG00000147724	ENST00000395297	T	0.14144	2.53	4.92	-0.962	0.10333	.	1.118960	0.06588	N	0.751478	T	0.11239	0.0274	L	0.54323	1.7	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.001	T	0.42849	-0.9427	10	0.10377	T	0.69	1.219	4.8929	0.13735	0.224:0.192:0.5014:0.0827	.	518;518;518	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	F	518	ENSP00000378710:C518F	ENSP00000276737:C518F	C	-	2	0	FAM135B	139234347	0.000000	0.05858	0.000000	0.03702	0.182000	0.23217	-0.096000	0.11059	-0.005000	0.14395	-0.211000	0.12701	TGT		0.463	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		41	165	1	0	2.24893e-16	0.009718	3.2114e-16	41	165				
FAM188A	80013	broad.mit.edu	37	10	15828592	15828592	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr10:15828592C>A	ENST00000277632.3	-	13	1304	c.1084G>T	c.(1084-1086)Ggc>Tgc	p.G362C	FAM188A_ENST00000477891.1_5'UTR|FAM188A_ENST00000378036.1_Missense_Mutation_p.G67C	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	362					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						AGAAATGGGCCCAATAATATG	0.338																																					Pancreas(159;946 1953 2111 4475 22008)	ENST00000378036.1																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						c.(199-201)Ggc>Tgc		family with sequence similarity 188, member A							86.0	96.0	93.0					10																	15828592		2203	4300	6503	SO:0001583	missense	80013				apoptosis	nucleus	calcium ion binding	g.chr10:15828592C>A	AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"""caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein"""	611649	"""chromosome 10 open reading frame 97"""	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.1084G>T	10.37:g.15828592C>A	ENSP00000277632:p.Gly362Cys					FAM188A_ENST00000277632.3_Missense_Mutation_p.G362C|FAM188A_ENST00000477891.1_5'UTR	p.G67C			Q9H8M7	F188A_HUMAN			4	1375	-			362					Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	ENST00000277632.3	37	c.199G>T	CCDS7110.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658089	0.88154	.	.	ENSG00000148481	ENST00000277632;ENST00000378036;ENST00000378033	T	0.30981	1.51	5.52	5.52	0.82312	EF-hand-like domain (1);	0.045546	0.85682	D	0.000000	T	0.49898	0.1584	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.45454	-0.9260	10	0.66056	D	0.02	-11.4454	19.7913	0.96458	0.0:1.0:0.0:0.0	.	362	Q9H8M7	F188A_HUMAN	C	362;67;67	ENSP00000277632:G362C	ENSP00000277632:G362C	G	-	1	0	FAM188A	15868598	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.739000	0.93911	0.655000	0.94253	GGC		0.338	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2	NM_024948		38	77	1	0	6.97489e-18	0.004878	1.01316e-17	38	77				
SCN3A	6328	broad.mit.edu	37	2	165986510	165986510	+	Silent	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:165986510G>T	ENST00000360093.3	-	17	3353	c.2862C>A	c.(2860-2862)gtC>gtA	p.V954V	SCN3A_ENST00000283254.7_Silent_p.V954V|SCN3A_ENST00000409101.3_Silent_p.V905V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	954					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTGGCCAGCGACCTCCATAC	0.468																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(2860-2862)gtC>gtA		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						202.0	190.0	194.0					2																	165986510		2203	4300	6503	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165986510G>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2862C>A	2.37:g.165986510G>T						SCN3A_ENST00000409101.3_Silent_p.V905V|SCN3A_ENST00000283254.7_Silent_p.V954V	p.V954V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			17	3353	-			954					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.2862C>A																																																																																					0.468	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		188	143	1	0	3.0798e-103	0.014410	5.16365e-103	188	143				
CDK8	1024	broad.mit.edu	37	13	26911771	26911771	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr13:26911771G>C	ENST00000381527.3	+	2	699	c.196G>C	c.(196-198)Gaa>Caa	p.E66Q	CDK8_ENST00000536792.1_Missense_Mutation_p.E66Q	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	66	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		GGCATGTAGAGAAATAGCAGT	0.294																																						ENST00000381527.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25						c.(196-198)Gaa>Caa		cyclin-dependent kinase 8							90.0	103.0	99.0					13																	26911771		2203	4290	6493	SO:0001583	missense	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26911771G>C	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.196G>C	13.37:g.26911771G>C	ENSP00000370938:p.Glu66Gln					CDK8_ENST00000536792.1_Missense_Mutation_p.E66Q	p.E66Q	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	2	699	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	66			Protein kinase.		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	c.196G>C	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809904	0.90707	.	.	ENSG00000132964	ENST00000381527;ENST00000536792	D;D	0.84873	-1.91;-1.91	5.74	5.74	0.90152	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94722	0.8297	H	0.94771	3.58	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.69142	0.936;0.962	D	0.95594	0.8657	10	0.87932	D	0	-18.1362	19.5297	0.95223	0.0:0.0:1.0:0.0	.	66;66	P49336-2;P49336	.;CDK8_HUMAN	Q	66	ENSP00000370938:E66Q;ENSP00000437696:E66Q	ENSP00000370938:E66Q	E	+	1	0	CDK8	25809771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.868000	0.92320	2.712000	0.92718	0.563000	0.77884	GAA		0.294	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			30	51	0	0	0	0.003755	0	30	51				
ZNF878	729747	broad.mit.edu	37	19	12155285	12155285	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:12155285A>G	ENST00000547628.1	-	4	1068	c.931T>C	c.(931-933)Tat>Cat	p.Y311H	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.Y358H|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TTACACTCATAGGGTTTCTCT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(1072-1074)Tat>Cat		zinc finger protein 878							77.0	85.0	82.0					19																	12155285		2171	4286	6457	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155285A>G		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.931T>C	19.37:g.12155285A>G	ENSP00000447931:p.Tyr311His					CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.Y311H|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA	p.Y358H			C9JN71	ZN878_HUMAN			5	1071	-			311						Missense_Mutation	SNP	ENST00000547628.1	37	c.1072T>C	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	A	13.05	2.122860	0.37436	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.21734	1.99	1.3	0.136	0.14780	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32496	0.0831	L	0.58510	1.815	0.09310	N	1	D	0.56521	0.976	P	0.62089	0.898	T	0.12760	-1.0535	9	0.48119	T	0.1	.	5.2025	0.15273	0.8209:0.0:0.1791:0.0	.	311	C9JN71	ZN878_HUMAN	H	311;358	ENSP00000447931:Y311H	ENSP00000447931:Y311H	Y	-	1	0	AC022415.4;ZNF878	12016285	0.014000	0.17966	0.005000	0.12908	0.263000	0.26337	1.635000	0.37134	-0.226000	0.09899	0.260000	0.18958	TAT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		33	74	0	0	0	0.012213	0	33	74				
DRP2	1821	broad.mit.edu	37	X	100494001	100494001	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chrX:100494001C>T	ENST00000395209.3	+	6	997	c.470C>T	c.(469-471)cCc>cTc	p.P157L	DRP2_ENST00000402866.1_Missense_Mutation_p.P157L|DRP2_ENST00000541709.1_Missense_Mutation_p.P79L|DRP2_ENST00000538510.1_Missense_Mutation_p.P157L	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	157					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TCTCGGGGCCCCTACATCTAT	0.463																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(469-471)cCc>cTc		dystrophin related protein 2							132.0	118.0	123.0					X																	100494001		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100494001C>T	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.470C>T	X.37:g.100494001C>T	ENSP00000378635:p.Pro157Leu					DRP2_ENST00000402866.1_Missense_Mutation_p.P157L|DRP2_ENST00000541709.1_Missense_Mutation_p.P79L|DRP2_ENST00000538510.1_Missense_Mutation_p.P157L	p.P157L	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN			6	997	+			157					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.470C>T	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445825	0.84101	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.66806	-0.5830	10	0.72032	D	0.01	-13.6137	18.2643	0.90048	0.0:1.0:0.0:0.0	.	157	Q13474	DRP2_HUMAN	L	157;157;79;157	ENSP00000385038:P157L;ENSP00000378635:P157L;ENSP00000444752:P79L;ENSP00000441051:P157L	ENSP00000362007:P157L	P	+	2	0	DRP2	100380657	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.279000	0.78599	2.251000	0.74343	0.499000	0.49734	CCC		0.463	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		58	16	0	0	0	0.014410	0	58	16				
KIF26B	55083	broad.mit.edu	37	1	245849620	245849620	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:245849620G>T	ENST00000407071.2	+	12	3775	c.3335G>T	c.(3334-3336)gGc>gTc	p.G1112V	KIF26B_ENST00000366518.4_Missense_Mutation_p.G731V	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1112					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AAGGATTCCGGCGTGGCGTCT	0.612																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2191-2193)gGc>gTc		kinesin family member 26B							65.0	73.0	70.0					1																	245849620		1941	4137	6078	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245849620G>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3335G>T	1.37:g.245849620G>T	ENSP00000385545:p.Gly1112Val					KIF26B_ENST00000407071.2_Missense_Mutation_p.G1112V	p.G731V			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	2296	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1112			Kinesin-motor.		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.2192G>T	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	5.072	0.198903	0.09652	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.77229	-1.08;-1.08	5.76	4.85	0.62838	.	.	.	.	.	T	0.65903	0.2736	L	0.52126	1.63	0.19775	N	0.99996	P;P	0.46277	0.498;0.875	B;B	0.36719	0.178;0.231	T	0.56306	-0.8001	9	0.22109	T	0.4	.	6.5086	0.22208	0.2091:0.1343:0.6566:0.0	.	731;1112	B7WPD9;Q2KJY2	.;KI26B_HUMAN	V	1112;731;728	ENSP00000385545:G1112V;ENSP00000355475:G731V	ENSP00000355475:G731V	G	+	2	0	KIF26B	243916243	0.972000	0.33761	0.016000	0.15963	0.004000	0.04260	3.539000	0.53604	1.454000	0.47793	0.549000	0.68633	GGC		0.612	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		56	125	1	0	3.31993e-32	0.014410	5.35318e-32	56	125				
HSF2BP	11077	broad.mit.edu	37	21	45076541	45076541	+	Silent	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr21:45076541T>A	ENST00000291560.2	-	3	445	c.114A>T	c.(112-114)atA>atT	p.I38I	RRP1B_ENST00000340648.4_5'Flank|HSF2BP_ENST00000542962.1_Intron	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	38					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		AGAAGTCCCGTATTTGCATCA	0.393																																						ENST00000291560.2																			0				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7						c.(112-114)atA>atT		heat shock transcription factor 2 binding protein							163.0	156.0	158.0					21																	45076541		2203	4300	6503	SO:0001819	synonymous_variant	11077				spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding	g.chr21:45076541T>A	AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"""heat shock factor 2 binding protein"""	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.114A>T	21.37:g.45076541T>A						HSF2BP_ENST00000542962.1_Intron	p.I38I	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)	3	445	-			38					B4DX36	Silent	SNP	ENST00000291560.2	37	c.114A>T	CCDS13697.1																																																																																				0.393	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195620.1	NM_007031		39	51	0	0	0	0.006999	0	39	51				
CYP11B2	1585	broad.mit.edu	37	8	143994844	143994844	+	Silent	SNP	C	C	A	rs374863640		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:143994844C>A	ENST00000323110.2	-	6	980	c.978G>T	c.(976-978)acG>acT	p.T326T		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	326					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GCTCAAAGAGCGTCATCAGCA	0.622									Familial Hyperaldosteronism type I																													ENST00000323110.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39						c.(976-978)acG>acT		cytochrome P450, family 11, subfamily B, polypeptide 2	Candesartan(DB00796)|Metyrapone(DB01011)						77.0	74.0	75.0					8																	143994844		2203	4300	6503	SO:0001819	synonymous_variant	1585	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143994844C>A	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.978G>T	8.37:g.143994844C>A							p.T326T	NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN			6	980	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		326					B0ZBE4|Q16726	Silent	SNP	ENST00000323110.2	37	c.978G>T	CCDS6393.1																																																																																				0.622	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			27	151	1	0	3.73148e-12	0.007291	5.00999e-12	27	151				
UNC13A	23025	broad.mit.edu	37	19	17728564	17728564	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:17728564G>A	ENST00000519716.2	-	41	4504	c.4505C>T	c.(4504-4506)aCg>aTg	p.T1502M	UNC13A_ENST00000252773.7_Missense_Mutation_p.T1502M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T1477M|UNC13A_ENST00000428389.2_Missense_Mutation_p.T1590M|UNC13A_ENST00000551649.1_Missense_Mutation_p.T1502M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T1475M	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1502	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGTGGCCTGCGTGTAGAGCGA	0.607																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(4768-4770)aCg>aTg		unc-13 homolog A (C. elegans)							108.0	115.0	113.0					19																	17728564		2082	4233	6315	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17728564G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4505C>T	19.37:g.17728564G>A	ENSP00000429562:p.Thr1502Met					UNC13A_ENST00000551649.1_Missense_Mutation_p.T1502M|UNC13A_ENST00000519716.2_Missense_Mutation_p.T1502M|UNC13A_ENST00000252773.7_Missense_Mutation_p.T1502M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T1475M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T1477M	p.T1590M			Q9UPW8	UN13A_HUMAN			42	4768	-			1502			C2 3.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.4769C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079450	0.55753	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	4.01	4.01	0.46588	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.000000	0.85682	D	0.000000	D	0.87042	0.6079	M	0.86740	2.835	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	D	0.89594	0.3830	10	0.87932	D	0	-18.9242	13.9609	0.64177	0.0:0.0:1.0:0.0	.	1502	Q9UPW8	UN13A_HUMAN	M	1502;1590;1502;1502;1477;1475	ENSP00000429562:T1502M;ENSP00000400409:T1590M;ENSP00000252773:T1502M;ENSP00000447236:T1502M;ENSP00000447572:T1477M;ENSP00000446831:T1475M	ENSP00000252773:T1502M	T	-	2	0	UNC13A	17589564	1.000000	0.71417	0.994000	0.49952	0.105000	0.19272	9.684000	0.98659	1.952000	0.56665	0.313000	0.20887	ACG		0.607	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		50	72	0	0	0	0.014410	0	50	72				
HDHD1	8226	broad.mit.edu	37	X	7023726	7023726	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chrX:7023726T>C	ENST00000381077.5	-	2	291	c.215A>G	c.(214-216)gAg>gGg	p.E72G	HDHD1_ENST00000412827.2_Intron|HDHD1_ENST00000540122.1_Missense_Mutation_p.E72G|HDHD1_ENST00000424830.2_Missense_Mutation_p.E95G|HDHD1_ENST00000498474.2_5'UTR	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	72					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						CACCAGCTCCTCTTTGGACAT	0.502																																						ENST00000381077.5																			0				breast(2)|large_intestine(1)|lung(3)	6						c.(214-216)gAg>gGg		haloacid dehalogenase-like hydrolase domain containing 1							75.0	73.0	73.0					X																	7023726		1926	4135	6061	SO:0001583	missense	8226				nucleotide metabolic process		metal ion binding|phosphatase activity	g.chrX:7023726T>C	M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"""family with sequence similarity 16, member A, X-linked"", ""haloacid dehalogenase-like hydrolase domain containing 1A"""	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.215A>G	X.37:g.7023726T>C	ENSP00000370467:p.Glu72Gly					HDHD1_ENST00000412827.2_Intron|HDHD1_ENST00000540122.1_Missense_Mutation_p.E72G|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000424830.2_Missense_Mutation_p.E95G	p.E72G	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN			2	291	-			72					B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Missense_Mutation	SNP	ENST00000381077.5	37	c.215A>G	CCDS48075.1	.	.	.	.	.	.	.	.	.	.	t	21.6	4.167355	0.78339	.	.	ENSG00000130021	ENST00000381077;ENST00000544385;ENST00000424830;ENST00000540122;ENST00000486446	T;T;T;T	0.05717	3.4;3.4;3.4;3.4	4.01	4.01	0.46588	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.28101	0.0693	M	0.88031	2.925	0.80722	D	1	P;B;D;P	0.89917	0.729;0.228;1.0;0.485	B;B;D;P	0.91635	0.367;0.383;0.999;0.502	T	0.06607	-1.0817	10	0.66056	D	0.02	-26.2932	11.2368	0.48944	0.0:0.0:0.0:1.0	.	72;95;72;72	Q08623-3;E9PAV8;E7EVH9;Q08623	.;.;.;HDHD1_HUMAN	G	72;88;95;72;72	ENSP00000370467:E72G;ENSP00000396452:E95G;ENSP00000441208:E72G;ENSP00000430995:E72G	ENSP00000370467:E72G	E	-	2	0	HDHD1	7033726	1.000000	0.71417	0.921000	0.36526	0.981000	0.71138	6.361000	0.73070	1.308000	0.44962	0.483000	0.47432	GAG		0.502	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055683.2	NM_012080		16	0	0	0	0	0.004007	0	16	0				
RP11-146E13.4	0	broad.mit.edu	37	14	19856854	19856854	+	lincRNA	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr14:19856854C>G	ENST00000548109.1	+	0	72																											CTCATGTCATCTACAGCACTC	0.343																																						ENST00000548109.1																			0																																																			0							g.chr14:19856854C>G																													14.37:g.19856854C>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.343	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			7	40	0	0	0	0.004482	0	7	40				
PCDH15	65217	broad.mit.edu	37	10	56106133	56106133	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr10:56106133C>A	ENST00000320301.6	-	6	980	c.586G>T	c.(586-588)Gat>Tat	p.D196Y	PCDH15_ENST00000373955.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000373957.3_Missense_Mutation_p.D174Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000373965.2_Missense_Mutation_p.D196Y|PCDH15_ENST00000414778.1_Missense_Mutation_p.D201Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.D196Y|PCDH15_ENST00000395446.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395442.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395432.2_Missense_Mutation_p.D196Y|PCDH15_ENST00000409834.1_Intron|AC013737.1_ENST00000583830.1_RNA|PCDH15_ENST00000395433.1_Missense_Mutation_p.D174Y|PCDH15_ENST00000395440.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395438.1_Missense_Mutation_p.D196Y	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	196	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.D196Y(2)|p.D201Y(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCGGATCATCTGGATTATAC	0.308										HNSCC(58;0.16)																												ENST00000373965.2																			4	Substitution - Missense(4)	p.D196Y(2)|p.D201Y(2)	lung(4)	NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(586-588)Gat>Tat		protocadherin-related 15							119.0	114.0	116.0					10																	56106133		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56106133C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.586G>T	10.37:g.56106133C>A	ENSP00000322604:p.Asp196Tyr	HNSCC(58;0.16)				PCDH15_ENST00000395442.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395440.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000414778.1_Missense_Mutation_p.D201Y|PCDH15_ENST00000395433.1_Missense_Mutation_p.D174Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395438.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.D196Y|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.D174Y|PCDH15_ENST00000395446.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395432.2_Missense_Mutation_p.D196Y|PCDH15_ENST00000320301.6_Missense_Mutation_p.D196Y|PCDH15_ENST00000373955.1_Missense_Mutation_p.D196Y	p.D196Y	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			6	980	-		Melanoma(3;0.117)|Lung SC(717;0.238)	196			Cadherin 2.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.586G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760515	0.69763	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;2.39;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.35	5.35	0.76521	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58963	0.2159	L	0.54323	1.7	0.24435	N	0.994558	D;P;D;D;P;P;D;P;D;D;P;P;P;P;D	0.58970	0.971;0.951;0.971;0.971;0.941;0.901;0.971;0.552;0.984;0.984;0.88;0.552;0.488;0.949;0.971	P;P;P;P;P;B;P;B;P;P;P;B;B;P;P	0.62649	0.905;0.722;0.863;0.808;0.722;0.396;0.905;0.363;0.793;0.793;0.485;0.363;0.353;0.722;0.863	T	0.53892	-0.8374	9	0.72032	D	0.01	.	8.2797	0.31894	0.0:0.8314:0.0:0.1686	.	174;196;196;201;196;196;196;196;196;196;196;201;196;174;196	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	Y	196;201;196;196;196;196;196;196;196;196;174;174;196;196;201;196;196	ENSP00000363076:D196Y;ENSP00000410304:D201Y;ENSP00000378826:D196Y;ENSP00000378832:D196Y;ENSP00000378833:D196Y;ENSP00000378829:D196Y;ENSP00000378827:D196Y;ENSP00000378820:D196Y;ENSP00000354950:D196Y;ENSP00000378821:D174Y;ENSP00000363068:D174Y;ENSP00000322604:D196Y;ENSP00000378818:D196Y;ENSP00000412628:D196Y;ENSP00000363066:D196Y	ENSP00000322604:D196Y	D	-	1	0	PCDH15	55776139	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	1.772000	0.38552	2.514000	0.84764	0.650000	0.86243	GAT		0.308	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		26	59	1	0	1.66031e-10	0.003954	2.16869e-10	26	59				
CLCNKB	1188	broad.mit.edu	37	1	16380200	16380200	+	Silent	SNP	A	A	G	rs185493054	byFrequency	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:16380200A>G	ENST00000375679.4	+	16	1800	c.1689A>G	c.(1687-1689)ccA>ccG	p.P563P	CLCNKB_ENST00000375667.3_Silent_p.P394P	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	563	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		AGGACATGCCACTGGAGGAGG	0.632													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18876	0.001		0.0	False		,,,				2504	0.0					ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21						c.(1687-1689)ccA>ccG		chloride channel, voltage-sensitive Kb							107.0	77.0	87.0					1																	16380200		2203	4300	6503	SO:0001819	synonymous_variant	1188							g.chr1:16380200A>G	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1689A>G	1.37:g.16380200A>G						CLCNKB_ENST00000375667.3_Silent_p.P394P	p.P563P	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	16	1800	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.1689A>G	CCDS168.1																																																																																				0.632	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		15	15	0	0	0	0.008871	0	15	15				
OR2T3	343173	broad.mit.edu	37	1	248637225	248637225	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:248637225C>T	ENST00000359594.2	+	1	599	c.574C>T	c.(574-576)Ctc>Ttc	p.L192F		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTGCTGAAGCTCTCCTGCTC	0.517																																						ENST00000359594.2																			0				breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(574-576)Ctc>Ttc		olfactory receptor, family 2, subfamily T, member 3							127.0	106.0	113.0					1																	248637225		2161	4270	6431	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637225C>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.574C>T	1.37:g.248637225C>T	ENSP00000352604:p.Leu192Phe						p.L192F	NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	599	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		192					B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.574C>T	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	c	15.66	2.899977	0.52227	.	.	ENSG00000196539	ENST00000359594	T	0.00392	7.58	2.37	1.42	0.22433	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01592	0.0051	H	0.98199	4.17	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.26224	-1.0109	9	0.87932	D	0	.	8.0052	0.30321	0.0:0.8622:0.0:0.1378	.	192	Q8NH03	OR2T3_HUMAN	F	192	ENSP00000352604:L192F	ENSP00000352604:L192F	L	+	1	0	OR2T3	246703848	0.081000	0.21417	0.001000	0.08648	0.334000	0.28698	0.366000	0.20365	0.109000	0.17891	0.186000	0.17326	CTC		0.517	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		192	155	0	0	0	0.014410	0	192	155				
FUK	197258	broad.mit.edu	37	16	70499039	70499039	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr16:70499039C>T	ENST00000288078.6	+	4	477	c.245C>T	c.(244-246)tCc>tTc	p.S82F	FUK_ENST00000378912.2_Missense_Mutation_p.S114F|FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Intron	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	82						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GTGGTCACATCCGATGTCCTG	0.572																																						ENST00000288078.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23						c.(244-246)tCc>tTc		fucokinase							55.0	53.0	54.0					16																	70499039		2017	4173	6190	SO:0001583	missense	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70499039C>T		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.245C>T	16.37:g.70499039C>T	ENSP00000288078:p.Ser82Phe					FUK_ENST00000378912.2_Missense_Mutation_p.S114F|FUK_ENST00000428974.2_Intron|FUK_ENST00000571514.1_Intron	p.S82F	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN			4	477	+		Ovarian(137;0.0694)	82					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	c.245C>T	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597449	0.46318	.	.	ENSG00000157353	ENST00000288078;ENST00000378912	T;T	0.08546	3.15;3.08	4.8	4.8	0.61643	.	0.145269	0.46442	D	0.000296	T	0.12008	0.0292	L	0.56769	1.78	0.80722	D	1	P;B	0.42203	0.773;0.437	B;B	0.41764	0.366;0.156	T	0.00797	-1.1562	10	0.56958	D	0.05	-10.0173	12.1926	0.54280	0.0:0.9197:0.0:0.0802	.	114;82	Q8N0W3-2;Q8N0W3	.;FUK_HUMAN	F	82;114	ENSP00000288078:S82F;ENSP00000368192:S114F	ENSP00000288078:S82F	S	+	2	0	FUK	69056540	0.476000	0.25901	0.256000	0.24389	0.707000	0.40811	4.805000	0.62561	2.615000	0.88500	0.650000	0.86243	TCC		0.572	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		11	14	0	0	0	0.001855	0	11	14				
ST5	6764	broad.mit.edu	37	11	8737301	8737301	+	Missense_Mutation	SNP	C	C	T	rs144868309	byFrequency	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:8737301C>T	ENST00000534127.1	-	9	2079	c.1694G>A	c.(1693-1695)cGg>cAg	p.R565Q	ST5_ENST00000313726.6_Missense_Mutation_p.R565Q|ST5_ENST00000357665.1_Missense_Mutation_p.R565Q|ST5_ENST00000526757.1_Missense_Mutation_p.R145Q|ST5_ENST00000526099.1_Missense_Mutation_p.R78Q|ST5_ENST00000530991.1_Missense_Mutation_p.R37Q|ST5_ENST00000530438.1_Missense_Mutation_p.R145Q	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	565					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TCGTGGCAGCCGGTGGCTCTT	0.617													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17424	0.0		0.0	False		,,,				2504	0.0					ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1693-1695)cGg>cAg		suppression of tumorigenicity 5		C	GLN/ARG,GLN/ARG,GLN/ARG	0,4402		0,0,2201	102.0	87.0	92.0		1694,434,1694	5.6	1.0	11	dbSNP_134	92	2,8590	2.2+/-6.3	0,2,4294	no	missense,missense,missense	ST5	NM_005418.3,NM_139157.2,NM_213618.1	43,43,43	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	565/1138,145/718,565/1138	8737301	2,12992	2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8737301C>T	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1694G>A	11.37:g.8737301C>T	ENSP00000433528:p.Arg565Gln					ST5_ENST00000526757.1_Missense_Mutation_p.R145Q|ST5_ENST00000357665.1_Missense_Mutation_p.R565Q|ST5_ENST00000526099.1_Missense_Mutation_p.R78Q|ST5_ENST00000530438.1_Missense_Mutation_p.R145Q|ST5_ENST00000313726.6_Missense_Mutation_p.R565Q|ST5_ENST00000530991.1_Missense_Mutation_p.R37Q	p.R565Q	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	9	2079	-			565					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.1694G>A	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	31	5.071209	0.93950	0.0	2.33E-4	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593;ENST00000528527;ENST00000531060;ENST00000526057;ENST00000528196	T;T;T;T;T;T;T;T;T;T;T;T	0.10192	2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.13543	0.0328	L	0.38175	1.15	0.58432	D	0.999992	P;P;P	0.47762	0.832;0.824;0.9	B;P;P	0.46975	0.206;0.459;0.533	T	0.00575	-1.1663	10	0.54805	T	0.06	-13.431	12.9013	0.58126	0.0:0.9257:0.0:0.0743	.	78;145;565	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	Q	145;565;565;37;565;78;145;37;175;37;37;54;37;145	ENSP00000435097:R145Q;ENSP00000433528:R565Q;ENSP00000319678:R565Q;ENSP00000432887:R37Q;ENSP00000350294:R565Q;ENSP00000436808:R78Q;ENSP00000436802:R145Q;ENSP00000433588:R37Q;ENSP00000437096:R37Q;ENSP00000431580:R37Q;ENSP00000433858:R54Q;ENSP00000431564:R145Q	ENSP00000319678:R565Q	R	-	2	0	ST5	8693877	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.304000	0.65744	2.640000	0.89533	0.655000	0.94253	CGG		0.617	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		41	80	0	0	0	0.011902	0	41	80				
NPY5R	4889	broad.mit.edu	37	4	164272687	164272687	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr4:164272687A>G	ENST00000515560.1	+	4	2784	c.1262A>G	c.(1261-1263)aAt>aGt	p.N421S	NPY5R_ENST00000506953.1_Missense_Mutation_p.N421S|NPY5R_ENST00000338566.3_Missense_Mutation_p.N421S			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	421					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGTTGTCTTAATCCAATTCTA	0.328																																					Melanoma(139;1287 1774 9781 19750 25599)	ENST00000515560.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1261-1263)aAt>aGt		neuropeptide Y receptor Y5							110.0	110.0	110.0					4																	164272687		2202	4300	6502	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164272687A>G	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.1262A>G	4.37:g.164272687A>G	ENSP00000423917:p.Asn421Ser					NPY5R_ENST00000506953.1_Missense_Mutation_p.N421S|NPY5R_ENST00000338566.3_Missense_Mutation_p.N421S	p.N421S			Q15761	NPY5R_HUMAN			4	2784	+	all_hematologic(180;0.166)	Prostate(90;0.109)	421					Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.1262A>G	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.723047	0.68959	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	D;D;D	0.85484	-1.99;-1.99;-1.99	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	D	0.93446	0.7909	M	0.89840	3.065	0.49798	D	0.999826	D	0.89917	1.0	D	0.87578	0.998	D	0.94786	0.7958	10	0.87932	D	0	.	14.9133	0.70776	1.0:0.0:0.0:0.0	.	421	Q15761	NPY5R_HUMAN	S	421	ENSP00000339377:N421S;ENSP00000423917:N421S;ENSP00000423474:N421S	ENSP00000339377:N421S	N	+	2	0	NPY5R	164492137	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.876000	0.87215	1.981000	0.57761	0.377000	0.23210	AAT		0.328	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		45	20	0	0	0	0.014410	0	45	20				
OR2AT4	341152	broad.mit.edu	37	11	74800246	74800246	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:74800246C>G	ENST00000305159.3	-	1	553	c.513G>C	c.(511-513)atG>atC	p.M171I		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	171						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						TGTTATATGCCATCTGGGAGG	0.572																																						ENST00000305159.3																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						c.(511-513)atG>atC		olfactory receptor, family 2, subfamily AT, member 4							98.0	88.0	91.0					11																	74800246		2200	4293	6493	SO:0001583	missense	341152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:74800246C>G	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.513G>C	11.37:g.74800246C>G	ENSP00000304846:p.Met171Ile						p.M171I	NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN			1	553	-			171					B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	37	c.513G>C	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	C	8.330	0.826374	0.16749	.	.	ENSG00000171561	ENST00000305159	T	0.36157	1.27	4.73	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38548	U	0.001653	T	0.14917	0.0360	N	0.02315	-0.6	0.31856	N	0.621564	B	0.14805	0.011	B	0.16289	0.015	T	0.05716	-1.0868	10	0.87932	D	0	.	7.3937	0.26923	0.0:0.8069:0.0:0.1931	.	171	A6NND4	O2AT4_HUMAN	I	171	ENSP00000304846:M171I	ENSP00000304846:M171I	M	-	3	0	OR2AT4	74477894	0.254000	0.23992	0.931000	0.37212	0.228000	0.25075	1.328000	0.33758	1.350000	0.45770	0.650000	0.86243	ATG		0.572	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		25	9	0	0	0	0.003954	0	25	9				
OR2T1	26696	broad.mit.edu	37	1	248569514	248569514	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:248569514C>A	ENST00000366474.1	+	1	219	c.219C>A	c.(217-219)acC>acA	p.T73T		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAAAGGAAACCTCAGGTCTTA	0.423																																						ENST00000366474.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39						c.(217-219)acC>acA		olfactory receptor, family 2, subfamily T, member 1							155.0	146.0	149.0					1																	248569514		2203	4300	6503	SO:0001819	synonymous_variant	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569514C>A	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.219C>A	1.37:g.248569514C>A							p.T73T	NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	219	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		73					Q6IEZ9	Silent	SNP	ENST00000366474.1	37	c.219C>A	CCDS31115.1																																																																																				0.423	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			83	73	1	0	1.20873e-29	0.014410	1.92143e-29	83	73				
COX10	1352	broad.mit.edu	37	17	13977709	13977709	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr17:13977709A>G	ENST00000261643.3	+	2	190	c.113A>G	c.(112-114)cAt>cGt	p.H38R	COX10_ENST00000429152.2_Missense_Mutation_p.H38R|COX10_ENST00000536205.1_5'UTR|COX10_ENST00000537334.1_5'UTR	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	38					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		AAGTTCTTACATCTTCTCAGG	0.403																																						ENST00000261643.3																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(112-114)cAt>cGt		cytochrome c oxidase assembly homolog 10 (yeast)							175.0	171.0	172.0					17																	13977709		2203	4300	6503	SO:0001583	missense	1352				heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	g.chr17:13977709A>G	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.113A>G	17.37:g.13977709A>G	ENSP00000261643:p.His38Arg					COX10_ENST00000429152.2_Missense_Mutation_p.H38R|COX10_ENST00000536205.1_5'UTR|COX10_ENST00000537334.1_5'UTR	p.H38R	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	2	190	+		all_lung(20;0.06)|Lung SC(565;0.168)	38					B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	37	c.113A>G	CCDS11166.1	.	.	.	.	.	.	.	.	.	.	A	7.978	0.750463	0.15778	.	.	ENSG00000006695	ENST00000261643	T	0.34275	1.37	5.14	-4.5	0.03493	.	0.404866	0.28225	N	0.016139	T	0.24774	0.0601	L	0.40543	1.245	0.21386	N	0.999709	B	0.02656	0.0	B	0.04013	0.001	T	0.14282	-1.0478	10	0.23302	T	0.38	-20.3785	14.9871	0.71356	0.3877:0.0:0.6123:0.0	.	38	Q12887	COX10_HUMAN	R	38	ENSP00000261643:H38R	ENSP00000261643:H38R	H	+	2	0	COX10	13918434	0.003000	0.15002	0.003000	0.11579	0.938000	0.57974	0.010000	0.13242	-1.002000	0.03429	0.528000	0.53228	CAT		0.403	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		63	95	0	0	0	0.014410	0	63	95				
MITD1	129531	broad.mit.edu	37	2	99797327	99797327	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:99797327C>T	ENST00000289359.2	-	1	194	c.118G>A	c.(118-120)Gag>Aag	p.E40K	C2orf15_ENST00000512183.2_5'Flank|MRPL30_ENST00000410042.1_Intron|MRPL30_ENST00000338148.3_5'Flank|MITD1_ENST00000466880.1_5'Flank|MRPL30_ENST00000409145.1_5'Flank	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	40	MIT.				cytokinetic cell separation (GO:0000920)|mitotic cytokinesis (GO:0000281)|mitotic cytokinetic cell separation (GO:1902409)|negative regulation of protein binding (GO:0032091)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)	phosphatidylinositol binding (GO:0035091)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(2)|ovary(1)	6						TCAATCCCCTCTTGGTAACAC	0.582																																						ENST00000289359.2																			0				large_intestine(3)|lung(2)|ovary(1)	6						c.(118-120)Gag>Aag		MIT, microtubule interacting and transport, domain containing 1							112.0	112.0	112.0					2																	99797327		2203	4300	6503	SO:0001583	missense	129531				protein transport	late endosome membrane		g.chr2:99797327C>T	BC018453	CCDS2040.1	2q11.2	2006-07-14			ENSG00000158411	ENSG00000158411			25207	protein-coding gene	gene with protein product						16730941	Standard	NM_138798		Approved	LOC129531	uc002szs.1	Q8WV92	OTTHUMG00000130638	ENST00000289359.2:c.118G>A	2.37:g.99797327C>T	ENSP00000289359:p.Glu40Lys					MRPL30_ENST00000410042.1_Intron	p.E40K	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN			1	194	-			40			MIT.		Q69YV0	Missense_Mutation	SNP	ENST00000289359.2	37	c.118G>A	CCDS2040.1	.	.	.	.	.	.	.	.	.	.	C	36	5.966941	0.97156	.	.	ENSG00000158411	ENST00000422537;ENST00000289359;ENST00000409107	T;T;T	0.69685	-0.42;-0.42;-0.42	5.49	5.49	0.81192	MIT (2);	0.000000	0.85682	D	0.000000	T	0.79387	0.4437	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78319	-0.2250	10	0.51188	T	0.08	.	18.5375	0.91015	0.0:1.0:0.0:0.0	.	40	Q8WV92	MITD1_HUMAN	K	22;40;40	ENSP00000413371:E22K;ENSP00000289359:E40K;ENSP00000387316:E40K	ENSP00000289359:E40K	E	-	1	0	MITD1	99163759	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.023000	0.64084	2.845000	0.97973	0.643000	0.83706	GAG		0.582	MITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253126.1	NM_138798		65	104	0	0	0	0.014410	0	65	104				
KRTAP11-1	337880	broad.mit.edu	37	21	32253706	32253706	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr21:32253706G>T	ENST00000332378.4	-	1	168	c.138C>A	c.(136-138)ttC>ttA	p.F46L		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	46						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AGCCAGTCTGGAAGGAACTGG	0.582																																						ENST00000332378.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						c.(136-138)ttC>ttA		keratin associated protein 11-1							71.0	68.0	69.0					21																	32253706		2203	4300	6503	SO:0001583	missense	337880					keratin filament	structural molecule activity	g.chr21:32253706G>T	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.138C>A	21.37:g.32253706G>T	ENSP00000330720:p.Phe46Leu						p.F46L	NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN			1	168	-			46					A1L4I8	Missense_Mutation	SNP	ENST00000332378.4	37	c.138C>A	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248073	0.59103	.	.	ENSG00000182591	ENST00000332378	T	0.03212	4.01	5.4	4.51	0.55191	.	0.394264	0.26612	N	0.023406	T	0.06462	0.0166	M	0.71581	2.175	0.34494	D	0.705297	B	0.18013	0.025	B	0.23419	0.046	T	0.03112	-1.1071	10	0.72032	D	0.01	-19.641	7.8756	0.29592	0.0866:0.1627:0.7507:0.0	.	46	Q8IUC1	KR111_HUMAN	L	46	ENSP00000330720:F46L	ENSP00000330720:F46L	F	-	3	2	KRTAP11-1	31175577	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.865000	0.48412	1.431000	0.47355	0.650000	0.86243	TTC		0.582	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			24	39	1	0	6.21321e-17	0.002780	8.91001e-17	24	39				
SNHG14	104472715	broad.mit.edu	37	15	25438354	25438354	+	RNA	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr15:25438354C>G	ENST00000424208.1	+	0	1213				SNORD115-14_ENST00000363090.1_RNA|SNHG14_ENST00000363358.1_RNA|SNORD115-12_ENST00000362583.1_RNA|SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GTGCTGAGCCCCTGGTGCACT	0.597																																						ENST00000424208.1																			0																																																			104472715							g.chr15:25438354C>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25438354C>G						SNHG14_ENST00000414175.1_RNA		NR_003305.1						0	1213	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.597	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			46	16	0	0	0	0.009718	0	46	16				
ARHGAP15	55843	broad.mit.edu	37	2	143913079	143913079	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:143913079C>G	ENST00000295095.6	+	2	187	c.20C>G	c.(19-21)tCt>tGt	p.S7C	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.S7C	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	7					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TCTACAAATTCTGATACTTCC	0.373																																						ENST00000409869.1																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(19-21)tCt>tGt		Rho GTPase activating protein 15							53.0	49.0	50.0					2																	143913079		2203	4300	6503	SO:0001583	missense	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143913079C>G	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.20C>G	2.37:g.143913079C>G	ENSP00000295095:p.Ser7Cys					ARHGAP15_ENST00000295095.6_Missense_Mutation_p.S7C	p.S7C			Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	3	197	+			7					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.20C>G	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799559	0.31869	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	T	0.08458	3.09	5.96	3.14	0.36123	.	0.562839	0.18780	N	0.131351	T	0.05502	0.0145	N	0.14661	0.345	0.25858	N	0.983862	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.34750	-0.9816	10	0.34782	T	0.22	.	11.2255	0.48882	0.0:0.6864:0.2483:0.0653	.	7;7	B4E0R3;Q53QZ3	.;RHG15_HUMAN	C	7	ENSP00000295095:S7C	ENSP00000295095:S7C	S	+	2	0	ARHGAP15	143629549	0.999000	0.42202	0.867000	0.34043	0.847000	0.48162	1.551000	0.36233	0.381000	0.24851	0.655000	0.94253	TCT		0.373	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		11	18	0	0	0	0.008291	0	11	18				
OR5H1	26341	broad.mit.edu	37	3	97852283	97852283	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr3:97852283G>T	ENST00000354565.2	+	1	742	c.742G>T	c.(742-744)Gtc>Ttc	p.V248F	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TCTCTTCTCTGTCTCTTTATA	0.413																																						ENST00000354565.2																			0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(742-744)Gtc>Ttc		olfactory receptor, family 5, subfamily H, member 1							126.0	136.0	132.0					3																	97852283		2203	4299	6502	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852283G>T	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.742G>T	3.37:g.97852283G>T	ENSP00000346575:p.Val248Phe					RP11-343D2.11_ENST00000508964.1_RNA	p.V248F	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN			1	742	+			248						Missense_Mutation	SNP	ENST00000354565.2	37	c.742G>T	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	G	9.026	0.986204	0.18889	.	.	ENSG00000231192	ENST00000354565	T	0.00354	7.93	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	D	0.000699	T	0.01222	0.0040	H	0.95437	3.67	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.10520	-1.0626	10	0.87932	D	0	.	12.6623	0.56822	0.0:0.0:1.0:0.0	.	248	A6NKK0	OR5H1_HUMAN	F	248	ENSP00000346575:V248F	ENSP00000346575:V248F	V	+	1	0	OR5H1	99334973	0.991000	0.36638	0.562000	0.28370	0.015000	0.08874	2.239000	0.43079	1.818000	0.53035	0.195000	0.17529	GTC		0.413	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		45	160	1	0	3.7052e-28	0.013114	5.83483e-28	45	160				
IVNS1ABP	10625	broad.mit.edu	37	1	185276680	185276680	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:185276680G>C	ENST00000367498.3	-	6	1094	c.472C>G	c.(472-474)Cag>Gag	p.Q158E	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	158	BACK.				negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						AAATGCTCCTGAATATAAGCA	0.363																																						ENST00000367498.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						c.(472-474)Cag>Gag		influenza virus NS1A binding protein							73.0	76.0	75.0					1																	185276680		2203	4299	6502	SO:0001583	missense	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185276680G>C	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.472C>G	1.37:g.185276680G>C	ENSP00000356468:p.Gln158Glu					IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR	p.Q158E	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN			6	1094	-			158			BACK.		A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.472C>G	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973951	0.74246	.	.	ENSG00000116679	ENST00000367498;ENST00000422754	T;T	0.68025	-0.3;-0.3	5.61	5.61	0.85477	BTB/Kelch-associated (2);	0.053515	0.85682	D	0.000000	T	0.72120	0.3421	N	0.21373	0.66	0.80722	D	1	D	0.63046	0.992	D	0.76071	0.987	T	0.67810	-0.5574	10	0.23302	T	0.38	.	19.6342	0.95722	0.0:0.0:1.0:0.0	.	158	Q9Y6Y0	NS1BP_HUMAN	E	158;39	ENSP00000356468:Q158E;ENSP00000401826:Q39E	ENSP00000356468:Q158E	Q	-	1	0	IVNS1ABP	183543303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.652000	0.98499	2.653000	0.90120	0.591000	0.81541	CAG		0.363	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		25	70	0	0	0	0.004656	0	25	70				
APOB	338	broad.mit.edu	37	2	21228818	21228818	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:21228818G>T	ENST00000233242.1	-	26	11049	c.10922C>A	c.(10921-10923)tCt>tAt	p.S3641Y		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3641					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAAGACCCAGAATGAATCCG	0.463																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(10921-10923)tCt>tAt		apolipoprotein B	Atorvastatin(DB01076)						59.0	58.0	58.0					2																	21228818		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228818G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10922C>A	2.37:g.21228818G>T	ENSP00000233242:p.Ser3641Tyr						p.S3641Y	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	11049	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3641					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.10922C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165586	0.38217	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.73363	-0.74	5.75	2.77	0.32553	.	0.395313	0.21995	N	0.066092	D	0.82866	0.5130	M	0.73962	2.25	0.23720	N	0.99703	D	0.76494	0.999	D	0.74674	0.984	T	0.73040	-0.4108	10	0.87932	D	0	.	8.5102	0.33213	0.0745:0.0:0.6541:0.2714	.	3641	P04114	APOB_HUMAN	Y	3641	ENSP00000233242:S3641Y	ENSP00000233242:S3641Y	S	-	2	0	APOB	21082323	0.033000	0.19621	0.000000	0.03702	0.478000	0.33099	2.184000	0.42575	0.262000	0.21774	0.655000	0.94253	TCT		0.463	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			14	26	1	0	1.5842e-08	0.001855	2.01462e-08	14	26				
CPQ	10404	broad.mit.edu	37	8	97978226	97978226	+	Missense_Mutation	SNP	G	G	A	rs373415893		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:97978226G>A	ENST00000220763.5	+	5	1123	c.913G>A	c.(913-915)Ggt>Agt	p.G305S		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	305					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										GGATGATGGCGGTGGAGCCTT	0.378																																						ENST00000220763.5																			0											c.(913-915)Ggt>Agt		carboxypeptidase Q		G	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	98.0	97.0	98.0		913	4.1	1.0	8		98	0,8600		0,0,4300	no	missense	PGCP	NM_016134.2	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	305/473	97978226	1,13005	2203	4300	6503	SO:0001583	missense	10404				peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	g.chr8:97978226G>A	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.913G>A	8.37:g.97978226G>A	ENSP00000220763:p.Gly305Ser						p.G305S	NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN			5	1123	+			305					B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	ENST00000220763.5	37	c.913G>A	CCDS6273.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.668052	0.67814	2.27E-4	0.0	ENSG00000104324	ENST00000220763	T	0.36878	1.23	5.94	4.14	0.48551	Peptidase M28 (1);	0.191964	0.46442	N	0.000298	T	0.25606	0.0623	N	0.16166	0.38	0.45415	D	0.998397	P;P	0.45672	0.864;0.814	P;P	0.48425	0.552;0.577	T	0.02813	-1.1107	10	0.11182	T	0.66	-2.2955	10.4502	0.44518	0.1514:0.0:0.8486:0.0	.	305;305	B5MDX4;Q9Y646	.;PGCP_HUMAN	S	305	ENSP00000220763:G305S	ENSP00000220763:G305S	G	+	1	0	AC010859.1	98047402	1.000000	0.71417	0.951000	0.38953	0.990000	0.78478	5.541000	0.67212	1.524000	0.49035	0.561000	0.74099	GGT		0.378	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134		3	56	0	0	0	0.000602	0	3	56				
ERICH3	127254	broad.mit.edu	37	1	75037100	75037100	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:75037100C>A	ENST00000326665.5	-	14	4512	c.4294G>T	c.(4294-4296)Ggc>Tgc	p.G1432C	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1432	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTGGAGTGCCCACCCCAGCC	0.612																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(4294-4296)Ggc>Tgc		chromosome 1 open reading frame 173							102.0	105.0	104.0					1																	75037100		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037100C>A																												ENST00000326665.5:c.4294G>T	1.37:g.75037100C>A	ENSP00000322609:p.Gly1432Cys					C1orf173_ENST00000433746.2_5'UTR	p.G1432C	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	4512	-			1432			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.4294G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.415054	0.42817	.	.	ENSG00000178965	ENST00000326665	T	0.12147	2.71	4.73	1.78	0.24846	.	.	.	.	.	T	0.06872	0.0175	N	0.19112	0.55	0.09310	N	1	D	0.69078	0.997	P	0.60473	0.875	T	0.17137	-1.0379	9	0.54805	T	0.06	-0.747	4.7153	0.12893	0.0:0.5636:0.1578:0.2786	.	1432	Q5RHP9	CA173_HUMAN	C	1432	ENSP00000322609:G1432C	ENSP00000322609:G1432C	G	-	1	0	C1orf173	74809688	0.000000	0.05858	0.003000	0.11579	0.018000	0.09664	0.238000	0.18004	0.426000	0.26116	0.561000	0.74099	GGC		0.612	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			58	33	1	0	2.43698e-19	0.014410	3.6339e-19	58	33				
IARS	3376	broad.mit.edu	37	9	95009669	95009669	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr9:95009669G>T	ENST00000375643.3	-	26	3047	c.2781C>A	c.(2779-2781)ttC>ttA	p.F927L	IARS_ENST00000375627.1_5'Flank|IARS_ENST00000443024.2_Missense_Mutation_p.F927L|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.F817L	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	927					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CAGTCTTCTGGAACTGCTCCA	0.483																																						ENST00000375643.3																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(2779-2781)ttC>ttA		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						136.0	113.0	121.0					9																	95009669		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95009669G>T	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.2781C>A	9.37:g.95009669G>T	ENSP00000364794:p.Phe927Leu					IARS_ENST00000443024.2_Missense_Mutation_p.F927L|IARS_ENST00000447699.2_Missense_Mutation_p.F817L|IARS_ENST00000375629.3_5'UTR	p.F927L	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN			26	3047	-			927					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.2781C>A	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464677	0.26335	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000449893	T;T;T	0.10573	2.87;2.87;2.86	5.66	2.6	0.31112	.	0.043486	0.85682	D	0.000000	T	0.14570	0.0352	M	0.69823	2.125	0.80722	D	1	B;B;B	0.30664	0.289;0.007;0.003	B;B;B	0.36845	0.234;0.018;0.008	T	0.02417	-1.1162	10	0.48119	T	0.1	-18.4395	7.5258	0.27653	0.2281:0.1332:0.6388:0.0	.	437;927;772	F5H1M4;P41252;Q6P0M4	.;SYIC_HUMAN;.	L	927;927;817;927;159	ENSP00000364794:F927L;ENSP00000406448:F927L;ENSP00000415020:F817L	ENSP00000364794:F927L	F	-	3	2	IARS	94049490	1.000000	0.71417	0.973000	0.42090	0.132000	0.20833	2.626000	0.46460	0.736000	0.32559	0.563000	0.77884	TTC		0.483	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		24	53	1	0	2.24059e-21	0.006320	3.40126e-21	24	53				
ACY3	91703	broad.mit.edu	37	11	67410230	67410230	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:67410230G>T	ENST00000255082.3	-	8	1095	c.925C>A	c.(925-927)Ccc>Acc	p.P309T	ACY3_ENST00000529256.1_Missense_Mutation_p.P188T	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	309	Shielding domain. {ECO:0000250}.				viral process (GO:0016032)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	GTCAGCGCGGGCATGGCAGGC	0.587																																					GBM(56;346 1011 27014 29495 46841)	ENST00000255082.3																			0				endometrium(1)|lung(5)|prostate(2)	8						c.(925-927)Ccc>Acc		aspartoacylase (aminocyclase) 3	L-Aspartic Acid(DB00128)						114.0	102.0	106.0					11																	67410230		2200	4294	6494	SO:0001583	missense	91703				interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding	g.chr11:67410230G>T	BC008689	CCDS8175.1	11q13.2	2014-08-08			ENSG00000132744	ENSG00000132744			24104	protein-coding gene	gene with protein product		614413				14656720	Standard	NM_080658		Approved	HCBP1, MGC9740, ACY-3	uc001omq.3	Q96HD9	OTTHUMG00000167283	ENST00000255082.3:c.925C>A	11.37:g.67410230G>T	ENSP00000255082:p.Pro309Thr					ACY3_ENST00000529256.1_Missense_Mutation_p.P188T	p.P309T	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN			8	1095	-			309						Missense_Mutation	SNP	ENST00000255082.3	37	c.925C>A	CCDS8175.1	.	.	.	.	.	.	.	.	.	.	G	5.417	0.262124	0.10239	.	.	ENSG00000132744	ENST00000255082;ENST00000529256	D;D	0.96459	-3.94;-4.02	3.86	3.86	0.44501	.	0.780493	0.11776	N	0.530594	D	0.89976	0.6871	N	0.08118	0	0.28188	N	0.927869	P	0.48911	0.917	B	0.38655	0.278	D	0.84511	0.0622	10	0.40728	T	0.16	-12.108	13.5369	0.61652	0.0:0.0:1.0:0.0	.	309	Q96HD9	ACY3_HUMAN	T	309;188	ENSP00000255082:P309T;ENSP00000434270:P188T	ENSP00000255082:P309T	P	-	1	0	ACY3	67166806	1.000000	0.71417	0.462000	0.27118	0.010000	0.07245	3.627000	0.54252	2.107000	0.64212	0.561000	0.74099	CCC		0.587	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394002.1	NM_080658		45	98	1	0	4.78724e-31	0.014410	7.68238e-31	45	98				
RIMS2	9699	broad.mit.edu	37	8	105235910	105235910	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:105235910G>T	ENST00000339750.2	+	1	31	c.31G>T	c.(31-33)Gct>Tct	p.A11S	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000436393.2_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1247					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGGTGCCAGCGCTGCGGGGCG	0.687										HNSCC(12;0.0054)																												ENST00000339750.2																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(31-33)Gct>Tct		regulating synaptic membrane exocytosis 2							15.0	16.0	16.0					8																	105235910		875	1991	2866	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105235910G>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000339750.2:c.31G>T	8.37:g.105235910G>T	ENSP00000342051:p.Ala11Ser	HNSCC(12;0.0054)				RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000262231.10_Intron	p.A11S			Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		1	31	+			1247					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000339750.2	37	c.31G>T		.	.	.	.	.	.	.	.	.	.	G	10.53	1.376400	0.24857	.	.	ENSG00000176406	ENST00000523362;ENST00000339750	T;T	0.17213	2.29;2.29	4.69	2.49	0.30216	.	.	.	.	.	T	0.12902	0.0313	.	.	.	0.22835	N	0.998674	.	.	.	.	.	.	T	0.31503	-0.9941	6	0.19147	T	0.46	.	9.6716	0.40015	0.2083:0.0:0.7917:0.0	.	.	.	.	S	11	ENSP00000428478:A11S;ENSP00000342051:A11S	ENSP00000342051:A11S	A	+	1	0	RIMS2	105305086	0.896000	0.30565	0.975000	0.42487	0.279000	0.26890	0.732000	0.26072	0.959000	0.37980	0.591000	0.81541	GCT		0.687	RIMS2-201	KNOWN	basic	protein_coding	protein_coding		NM_001100117		8	16	1	0	1.12685e-05	0.004482	1.36111e-05	8	16				
DCHS1	8642	broad.mit.edu	37	11	6643935	6643935	+	Missense_Mutation	SNP	C	C	T	rs200152314	byFrequency	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:6643935C>T	ENST00000299441.3	-	21	9383	c.8972G>A	c.(8971-8973)cGg>cAg	p.R2991Q	RP11-732A19.9_ENST00000545572.1_RNA|RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2991					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTGGCTCCCGGCCCAGTTT	0.642													C|||	4	0.000798722	0.003	0.0	5008	,	,		18024	0.0		0.0	False		,,,				2504	0.0					ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(8971-8973)cGg>cAg		dachsous cadherin-related 1																																				SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6643935C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.8972G>A	11.37:g.6643935C>T	ENSP00000299441:p.Arg2991Gln						p.R2991Q	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	9383	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2991					O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.8972G>A	CCDS7771.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	5.515	0.279895	0.10458	.	.	ENSG00000166341	ENST00000299441	T	0.54675	0.56	4.71	4.71	0.59529	.	0.000000	0.32563	N	0.005932	T	0.50205	0.1602	L	0.34521	1.04	0.32176	N	0.581039	D	0.71674	0.998	P	0.58520	0.84	T	0.50197	-0.8856	10	0.13108	T	0.6	.	8.7988	0.34896	0.0:0.8294:0.0:0.1706	.	2991	Q96JQ0	PCD16_HUMAN	Q	2991	ENSP00000299441:R2991Q	ENSP00000299441:R2991Q	R	-	2	0	DCHS1	6600511	0.935000	0.31712	1.000000	0.80357	0.005000	0.04900	1.909000	0.39917	2.450000	0.82876	0.655000	0.94253	CGG		0.642	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		5	5	0	0	0	0.000602	0	5	5				
HECTD4	283450	broad.mit.edu	37	12	112622228	112622228	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr12:112622228G>A	ENST00000430131.2	-	60	10421	c.9276C>T	c.(9274-9276)gcC>gcT	p.A3092A	HECTD4_ENST00000377560.5_Silent_p.A3342A|HECTD4_ENST00000550722.1_Silent_p.A3368A			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3092					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GCTCGAGGCCGGCAGGCAGCG	0.677																																						ENST00000550722.1																			0											c.(10102-10104)gcC>gcT		HECT domain containing E3 ubiquitin protein ligase 4							15.0	21.0	19.0					12																	112622228		2153	4259	6412	SO:0001819	synonymous_variant	283450							g.chr12:112622228G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9276C>T	12.37:g.112622228G>A						HECTD4_ENST00000430131.2_Silent_p.A3092A|HECTD4_ENST00000377560.5_Silent_p.A3342A	p.A3368A	NM_001109662.3	NP_001103132.3					61	10499	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.10104C>T																																																																																					0.677	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		11	1	0	0	0	0.008291	0	11	1				
DYRK1B	9149	broad.mit.edu	37	19	40321360	40321360	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:40321360C>T	ENST00000593685.1	-	3	595	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	DYRK1B_ENST00000430012.2_Missense_Mutation_p.A43T|DYRK1B_ENST00000601972.1_Missense_Mutation_p.A43T|DYRK1B_ENST00000597639.1_Missense_Mutation_p.A43T|DYRK1B_ENST00000323039.5_Missense_Mutation_p.A43T|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A43T			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	43					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CGCAGCGGGGCTGAGGTTGCA	0.642																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(127-129)Gcc>Acc		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							70.0	65.0	67.0					19																	40321360		2203	4300	6503	SO:0001583	missense	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40321360C>T	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.127G>A	19.37:g.40321360C>T	ENSP00000469863:p.Ala43Thr					DYRK1B_ENST00000597639.1_Missense_Mutation_p.A43T|DYRK1B_ENST00000430012.2_Missense_Mutation_p.A43T|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A43T|DYRK1B_ENST00000323039.5_Missense_Mutation_p.A43T|DYRK1B_ENST00000601972.1_Missense_Mutation_p.A43T	p.A43T			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		3	595	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		43					O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	c.127G>A	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268854	0.80469	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.58210	0.35;0.39;0.37	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	M	0.78637	2.42	0.80722	D	1	P;B;P;P	0.45672	0.864;0.2;0.568;0.855	B;B;B;P	0.49953	0.423;0.198;0.196;0.627	T	0.69072	-0.5242	10	0.51188	T	0.08	.	15.3649	0.74513	0.0:1.0:0.0:0.0	.	43;43;43;43	B3KQI0;Q9Y463-2;Q9Y463;Q9Y463-3	.;.;DYR1B_HUMAN;.	T	43	ENSP00000312789:A43T;ENSP00000221803:A43T;ENSP00000403182:A43T	ENSP00000312789:A43T	A	-	1	0	DYRK1B	45013200	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	7.783000	0.85696	2.213000	0.71641	0.563000	0.77884	GCC		0.642	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		30	42	0	0	0	0.007291	0	30	42				
TRIM39	56658	broad.mit.edu	37	6	30297275	30297275	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:30297275G>A	ENST00000396547.1	+	2	341	c.181G>A	c.(181-183)Gag>Aag	p.E61K	HCG18_ENST00000426882.1_RNA|TRIM39_ENST00000376659.5_Missense_Mutation_p.E61K|TRIM39_ENST00000396551.3_Missense_Mutation_p.E61K|HCG18_ENST00000412685.2_RNA|TRIM39_ENST00000396548.1_Missense_Mutation_p.E61K|TRIM39_ENST00000376656.4_Missense_Mutation_p.E61K|TRIM39-RPP21_ENST00000513556.1_5'Flank|TRIM39_ENST00000540416.1_Missense_Mutation_p.E61K|HCG18_ENST00000413358.2_RNA			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	61					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						GGAGGACCTAGAGAGGGACTT	0.542																																						ENST00000376659.5																			0				ovary(3)	3						c.(181-183)Gag>Aag		tripartite motif containing 39							160.0	142.0	149.0					6																	30297275		1510	2709	4219	SO:0001583	missense	56658							g.chr6:30297275G>A	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.181G>A	6.37:g.30297275G>A	ENSP00000379796:p.Glu61Lys					TRIM39_ENST00000376656.4_Missense_Mutation_p.E61K|TRIM39_ENST00000396551.3_Missense_Mutation_p.E61K|TRIM39_ENST00000396548.1_Missense_Mutation_p.E61K|TRIM39_ENST00000540416.1_Missense_Mutation_p.E61K|TRIM39_ENST00000396547.1_Missense_Mutation_p.E61K	p.E61K	NM_172016.2	NP_742013.1					3	779	+								Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	c.181G>A	CCDS34377.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095120	0.56075	.	.	ENSG00000204599	ENST00000458516;ENST00000440271;ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000428728;ENST00000396548;ENST00000376659;ENST00000396547	T;T;T;T;T;T;T;T;T	0.08102	3.13;3.13;3.13;3.13;3.13;3.13;3.13;3.13;3.13	5.15	4.27	0.50696	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.53938	D	0.000045	T	0.01661	0.0053	N	0.02830	-0.485	0.36415	D	0.863987	P;B	0.36086	0.536;0.012	B;B	0.40702	0.338;0.022	T	0.55244	-0.8171	10	0.21540	T	0.41	.	11.5226	0.50560	0.0:0.1802:0.8198:0.0	.	61;61	Q9HCM9;Q9HCM9-2	TRI39_HUMAN;.	K	61	ENSP00000405928:E61K;ENSP00000394768:E61K;ENSP00000379800:E61K;ENSP00000365844:E61K;ENSP00000439400:E61K;ENSP00000406019:E61K;ENSP00000379797:E61K;ENSP00000365847:E61K;ENSP00000379796:E61K	ENSP00000365844:E61K	E	+	1	0	TRIM39	30405254	0.492000	0.26027	0.998000	0.56505	0.980000	0.70556	1.210000	0.32370	1.364000	0.46038	0.561000	0.74099	GAG		0.542	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		48	83	0	0	0	0.014410	0	48	83				
LRRTM1	347730	broad.mit.edu	37	2	80529897	80529897	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:80529897C>A	ENST00000295057.3	-	2	1704	c.1048G>T	c.(1048-1050)Ggc>Tgc	p.G350C	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.G350C|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	350	LRRCT.				exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						ACGTCCTCGCCCTGTGCGTAC	0.672										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(1048-1050)Ggc>Tgc		leucine rich repeat transmembrane neuronal 1							22.0	21.0	21.0					2																	80529897		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529897C>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1048G>T	2.37:g.80529897C>A	ENSP00000295057:p.Gly350Cys	HNSCC(69;0.2)				LRRTM1_ENST00000409148.1_Missense_Mutation_p.G350C|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron	p.G350C	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1704	-			350			LRRCT.		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.1048G>T	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938840	0.73557	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.58060	0.36;0.36	5.32	5.32	0.75619	.	0.000000	0.85682	U	0.000000	T	0.77445	0.4131	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80585	-0.1317	9	.	.	.	.	18.995	0.92809	0.0:1.0:0.0:0.0	.	350	Q86UE6	LRRT1_HUMAN	C	350	ENSP00000295057:G350C;ENSP00000386646:G350C	.	G	-	1	0	LRRTM1	80383408	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.808000	0.86044	2.452000	0.82932	0.655000	0.94253	GGC		0.672	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		14	20	1	0	1.5842e-08	0.001855	2.01462e-08	14	20				
GALNTL5	168391	broad.mit.edu	37	7	151699803	151699803	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:151699803T>A	ENST00000392800.2	+	6	917	c.663T>A	c.(661-663)gaT>gaA	p.D221E	GALNTL5_ENST00000483959.1_3'UTR|GALNTL5_ENST00000431418.2_Missense_Mutation_p.D221E	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	221	Catalytic subdomain A.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CCCCAGGGGATGTTCTGGTGT	0.498																																						ENST00000392800.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32						c.(661-663)gaT>gaA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5							80.0	73.0	75.0					7																	151699803		2203	4300	6503	SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151699803T>A	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.663T>A	7.37:g.151699803T>A	ENSP00000376548:p.Asp221Glu					GALNTL5_ENST00000483959.1_3'UTR|GALNTL5_ENST00000431418.2_Missense_Mutation_p.D221E	p.D221E	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	6	917	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	221			Catalytic subdomain A.		Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	c.663T>A	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	T	4.700	0.130073	0.08981	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.61040	0.14;0.14	4.83	-9.66	0.00534	Glycosyl transferase, family 2 (1);	0.135832	0.33875	N	0.004466	T	0.25382	0.0617	N	0.16743	0.435	0.23708	N	0.997058	B	0.25235	0.121	B	0.30316	0.114	T	0.39035	-0.9633	10	0.08599	T	0.76	.	4.6922	0.12786	0.297:0.092:0.0688:0.5421	.	221	Q7Z4T8	GLTL5_HUMAN	E	221	ENSP00000392582:D221E;ENSP00000376548:D221E	ENSP00000376548:D221E	D	+	3	2	GALNTL5	151330736	0.000000	0.05858	0.012000	0.15200	0.895000	0.52256	-2.225000	0.01212	-2.681000	0.00408	-1.167000	0.01749	GAT		0.498	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		25	12	0	0	0	0.002780	0	25	12				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	284802							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	44	0	0	0	0.001168	0	4	44				
PMFBP1	83449	broad.mit.edu	37	16	72188112	72188112	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr16:72188112C>T	ENST00000237353.10	-	4	673	c.412G>A	c.(412-414)Gag>Aag	p.E138K	PMFBP1_ENST00000537465.1_Missense_Mutation_p.E138K|PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000543746.1_5'Flank	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	138						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GTCTATACCTCATCTTCTTTC	0.463																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(412-414)Gag>Aag		polyamine modulated factor 1 binding protein 1							150.0	143.0	145.0					16																	72188112		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72188112C>T	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.412G>A	16.37:g.72188112C>T	ENSP00000237353:p.Glu138Lys					PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E138K	p.E138K			Q8TBY8	PMFBP_HUMAN			4	570	-		Ovarian(137;0.179)	138					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.412G>A	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885033	0.91814	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000535461	T;T	0.80033	-1.33;-1.33	5.63	5.63	0.86233	.	0.000000	0.49916	D	0.000122	D	0.82715	0.5097	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82024	-0.0662	10	0.37606	T	0.19	-27.9575	15.1899	0.73035	0.0:1.0:0.0:0.0	.	138;138	Q8TBY8-2;G3V1Q7	.;.	K	138	ENSP00000443817:E138K;ENSP00000237353:E138K	ENSP00000237353:E138K	E	-	1	0	PMFBP1	70745613	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.761000	0.55242	2.669000	0.90835	0.655000	0.94253	GAG		0.463	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		42	68	0	0	0	0.010771	0	42	68				
RPS6KB1	6198	broad.mit.edu	37	17	58024140	58024140	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr17:58024140G>C	ENST00000225577.4	+	15	1590	c.1569G>C	c.(1567-1569)atG>atC	p.M523I	RP11-178C3.1_ENST00000591035.1_Intron|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.M470I|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.M500I|RPS6KB1_ENST00000406116.3_Intron	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	523	Autoinhibitory domain.				aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ACCTGCGTATGAATCTATGAC	0.463																																						ENST00000225577.4																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(1567-1569)atG>atC		ribosomal protein S6 kinase, 70kDa, polypeptide 1							73.0	69.0	71.0					17																	58024140		2203	4300	6503	SO:0001583	missense	6198				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity	g.chr17:58024140G>C	M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"""ribosomal protein S6 kinase, 70kD, polypeptide 1"""	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.1569G>C	17.37:g.58024140G>C	ENSP00000225577:p.Met523Ile					RP11-178C3.1_ENST00000591035.1_Intron|RPS6KB1_ENST00000406116.3_Intron|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.M500I|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.M470I	p.M523I	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)		15	1590	+	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		523			Autoinhibitory domain.		B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Missense_Mutation	SNP	ENST00000225577.4	37	c.1569G>C	CCDS11621.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684580	0.47991	.	.	ENSG00000108443	ENST00000443572;ENST00000225577;ENST00000393021	T;T;T	0.70045	-0.45;-0.28;-0.23	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.69566	0.3125	L	0.36672	1.1	0.80722	D	1	P;B	0.39044	0.656;0.16	P;B	0.48627	0.584;0.045	T	0.72354	-0.4319	10	0.66056	D	0.02	.	18.7992	0.92008	0.0:0.0:1.0:0.0	.	500;523	F6UYM1;P23443	.;KS6B1_HUMAN	I	500;523;470	ENSP00000441993:M500I;ENSP00000225577:M523I;ENSP00000376744:M470I	ENSP00000225577:M523I	M	+	3	0	RPS6KB1	55378922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.410000	0.97335	2.430000	0.82344	0.655000	0.94253	ATG		0.463	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319324.1	NM_003161		31	45	0	0	0	0.003271	0	31	45				
RGS7	6000	broad.mit.edu	37	1	240964780	240964780	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:240964780G>C	ENST00000407727.1	-	16	1387	c.1388C>G	c.(1387-1389)tCt>tGt	p.S463C	RGS7_ENST00000348120.2_Intron|RGS7_ENST00000446183.2_Intron|RGS7_ENST00000366564.1_Intron|RGS7_ENST00000366562.4_Intron|RGS7_ENST00000366565.1_Missense_Mutation_p.S463C|RGS7_ENST00000331110.7_Intron|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000366563.1_Intron			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	463					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTTTCAAAAGATGTTCTGCG	0.333																																						ENST00000366565.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1387-1389)tCt>tGt		regulator of G-protein signaling 7							68.0	64.0	66.0					1																	240964780		2203	4299	6502	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240964780G>C	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1388C>G	1.37:g.240964780G>C	ENSP00000384428:p.Ser463Cys					RGS7_ENST00000401882.1_Intron|RGS7_ENST00000331110.7_Intron|RGS7_ENST00000366563.1_Intron|RGS7_ENST00000446183.2_Intron|RGS7_ENST00000366562.4_Intron|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366564.1_Intron|RGS7_ENST00000407727.1_Missense_Mutation_p.S463C	p.S463C	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		17	1769	-		all_cancers(173;0.0131)	463					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.1388C>G		.	.	.	.	.	.	.	.	.	.	G	19.51	3.842122	0.71488	.	.	ENSG00000182901	ENST00000366565;ENST00000440928;ENST00000407727	T;T;T	0.37235	1.42;1.21;1.38	5.77	4.86	0.63082	.	0.000000	0.56097	D	0.000034	T	0.41971	0.1182	N	0.19112	0.55	0.80722	D	1	D;D	0.63880	0.993;0.975	D;P	0.63381	0.914;0.832	T	0.33803	-0.9854	10	0.40728	T	0.16	.	14.6306	0.68653	0.0:0.1452:0.8548:0.0	.	463;463	P49802-5;P49802	.;RGS7_HUMAN	C	463;294;463	ENSP00000355523:S463C;ENSP00000404399:S294C;ENSP00000384428:S463C	ENSP00000355523:S463C	S	-	2	0	RGS7	239031403	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.592000	0.74095	1.564000	0.49628	0.655000	0.94253	TCT		0.333	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		10	18	0	0	0	0.008291	0	10	18				
PLCH1	23007	broad.mit.edu	37	3	155203145	155203145	+	Splice_Site	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr3:155203145C>T	ENST00000340059.7	-	22	2997	c.2998G>A	c.(2998-3000)Gca>Aca	p.A1000T	PLCH1_ENST00000334686.6_Splice_Site_p.A962T|PLCH1_ENST00000414191.1_Splice_Site_p.A962T|PLCH1_ENST00000494598.1_Splice_Site_p.D980N|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000460012.1_Splice_Site_p.A962T|PLCH1_ENST00000447496.2_Splice_Site_p.V1000I	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1000					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGCATCTTACCTAGAGAGTTT	0.423																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.e22+1		phospholipase C, eta 1							71.0	71.0	71.0					3																	155203145		2203	4300	6503	SO:0001630	splice_region_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155203145C>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2998+1G>A	3.37:g.155203145C>T						PLCH1_ENST00000414191.1_Splice_Site_p.A962_splice|PLCH1_ENST00000340059.7_Splice_Site_p.A1000_splice|PLCH1_ENST00000447496.2_Splice_Site_p.V1000_splice|PLCH1_ENST00000334686.6_Splice_Site_p.A962_splice|PLCH1_ENST00000494598.1_Splice_Site_p.D980_splice	p.A962_splice			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		22	3241	-			1000					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Splice_Site	SNP	ENST00000340059.7	37	c.2884_splice	CCDS46939.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	20.1|20.1|20.1	3.935124|3.935124|3.935124	0.73442|0.73442|0.73442	.|.|.	.|.|.	ENSG00000114805|ENSG00000114805|ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191|ENST00000494598|ENST00000447496	T;T;T;T|T|T	0.22134|0.20463|0.29917	1.97;1.97;1.97;1.97|2.07|1.55	5.88|5.88|5.88	5.88|5.88|5.88	0.94601|0.94601|0.94601	.|.|.	1.617990|.|.	0.02939|.|.	N|.|.	0.140214|.|.	T|T|T	0.48314|0.48314|0.48314	0.1493|0.1493|0.1493	L|L|L	0.44542|0.44542|0.44542	1.39|1.39|1.39	0.54753|0.54753|0.54753	D|D|D	0.999988|0.999988|0.999988	B;B|.|P	0.32245|.|0.47910	0.277;0.361|.|0.902	B;B|.|P	0.24394|.|0.61722	0.053;0.036|.|0.893	T|T|T	0.08889|0.08889|0.08889	-1.0700|-1.0700|-1.0700	9|6|8	.|.|.	.|.|.	.|.|.	.|.|.	20.2228|20.2228|20.2228	0.98330|0.98330|0.98330	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	962;1000|.|1000	Q4KWH8-2;Q4KWH8|.|Q4KWH8-3	.;PLCH1_HUMAN|.|.	T|N|I	962;1000;962;962|980|1000	ENSP00000417502:A962T;ENSP00000345988:A1000T;ENSP00000335469:A962T;ENSP00000412977:A962T|ENSP00000419100:D980N|ENSP00000402759:V1000I	.|.|.	A|D|V	-|-|-	1|1|1	0|0|0	PLCH1|PLCH1|PLCH1	156685839|156685839|156685839	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.983000|0.983000|0.983000	0.44433|0.44433|0.44433	0.772000|0.772000|0.772000	0.43724|0.43724|0.43724	4.009000|4.009000|4.009000	0.57110|0.57110|0.57110	2.789000|2.789000|2.789000	0.95967|0.95967|0.95967	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCA|GAC|GTA		0.423	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	Missense_Mutation	13	50	0	0	0	0.013537	0	13	50				
PRAMEF10	343071	broad.mit.edu	37	1	12955542	12955542	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:12955542A>C	ENST00000235347.4	-	2	216	c.137T>G	c.(136-138)aTg>aGg	p.M46R		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	46					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAACGTCTCATGCTGAAGGC	0.572																																						ENST00000235347.4																			0				NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(136-138)aTg>aGg		PRAME family member 10							38.0	37.0	38.0					1																	12955542		2091	3762	5853	SO:0001583	missense	343071							g.chr1:12955542A>C	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.137T>G	1.37:g.12955542A>C	ENSP00000235347:p.Met46Arg						p.M46R	NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	216	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	46					Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	c.137T>G	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.804134	0.00611	.	.	ENSG00000187545	ENST00000235347	T	0.10192	2.9	1.99	-3.36	0.04913	.	1.181070	0.06056	N	0.657500	T	0.01592	0.0051	N	0.00060	-2.34	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40553	-0.9557	10	0.18710	T	0.47	.	2.8525	0.05562	0.2123:0.3287:0.0:0.4589	.	46	O60809	PRA10_HUMAN	R	46	ENSP00000235347:M46R	ENSP00000235347:M46R	M	-	2	0	PRAMEF10	12878129	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.901000	0.04093	-0.902000	0.03886	-0.910000	0.02820	ATG		0.572	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		33	21	0	0	0	0.011902	0	33	21				
FCAR	2204	broad.mit.edu	37	19	55396680	55396680	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:55396680C>A	ENST00000355524.3	+	3	114	c.104C>A	c.(103-105)tCg>tAg	p.S35*	FCAR_ENST00000391724.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000391725.3_Nonsense_Mutation_p.S35*|FCAR_ENST00000359272.4_Nonsense_Mutation_p.S23*|FCAR_ENST00000391723.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000391726.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000345937.4_Nonsense_Mutation_p.S35*|FCAR_ENST00000469767.1_Nonsense_Mutation_p.S35*|FCAR_ENST00000482092.2_3'UTR	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	35					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.S35L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TCTGCCAAATCGAGTCCTGTG	0.498																																						ENST00000355524.3																			2	Substitution - Missense(2)	p.S35L(2)	large_intestine(2)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24						c.(103-105)tCg>tAg		Fc fragment of IgA, receptor for							67.0	65.0	66.0					19																	55396680		2203	4300	6503	SO:0001587	stop_gained	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55396680C>A	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.104C>A	19.37:g.55396680C>A	ENSP00000347714:p.Ser35*					FCAR_ENST00000345937.4_Nonsense_Mutation_p.S35*|FCAR_ENST00000391726.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000391723.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000391725.3_Nonsense_Mutation_p.S35*|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000391724.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000469767.1_Nonsense_Mutation_p.S35*|FCAR_ENST00000359272.4_Nonsense_Mutation_p.S23*	p.S35*	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	3	114	+			35					Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Nonsense_Mutation	SNP	ENST00000355524.3	37	c.104C>A	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054995	0.36277	.	.	ENSG00000186431	ENST00000433231;ENST00000391726;ENST00000355524;ENST00000391725;ENST00000345937;ENST00000359272;ENST00000391723;ENST00000391724	.	.	.	3.19	2.1	0.27182	.	0.788741	0.10353	N	0.684825	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	7.3977	0.26946	0.2597:0.7403:0.0:0.0	.	.	.	.	X	35;23;35;35;35;23;23;23	.	ENSP00000338257:S35X	S	+	2	0	FCAR	60088492	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.083000	0.30815	0.852000	0.35287	0.563000	0.77884	TCG		0.498	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		22	34	1	0	3.62473e-10	0.012319	4.71635e-10	22	34				
HMCN1	83872	broad.mit.edu	37	1	185946936	185946936	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:185946936C>T	ENST00000271588.4	+	16	2618	c.2389C>T	c.(2389-2391)Caa>Taa	p.Q797*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.Q797*|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	797	Ig-like C2-type 5.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGTTTTCATACAAGAACCTGC	0.343																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(2389-2391)Caa>Taa		hemicentin 1							148.0	132.0	137.0					1																	185946936		2203	4300	6503	SO:0001587	stop_gained	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185946936C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2389C>T	1.37:g.185946936C>T	ENSP00000271588:p.Gln797*					HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Nonsense_Mutation_p.Q797*	p.Q797*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			16	2618	+			797			Ig-like C2-type 5.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	c.2389C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	41	9.012301	0.99035	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.89	5.89	0.94794	.	0.173959	0.51477	D	0.000087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2576	0.98430	0.0:1.0:0.0:0.0	.	.	.	.	X	797	.	ENSP00000271588:Q797X	Q	+	1	0	HMCN1	184213559	0.997000	0.39634	1.000000	0.80357	0.920000	0.55202	3.847000	0.55895	2.783000	0.95769	0.655000	0.94253	CAA		0.343	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		49	61	0	0	0	0.014410	0	49	61				
KANSL1L	151050	broad.mit.edu	37	2	210893657	210893657	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:210893657A>C	ENST00000281772.9	-	11	2571	c.2308T>G	c.(2308-2310)Tat>Gat	p.Y770D	AC007038.7_ENST00000452057.1_RNA|RP11-260M2.1_ENST00000608095.1_RNA|KANSL1L_ENST00000418791.1_Missense_Mutation_p.Y728D	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	770						histone acetyltransferase complex (GO:0000123)											TCTATGTCATAAGAGCTCTCA	0.368																																						ENST00000281772.9																			0											c.(2308-2310)Tat>Gat		KAT8 regulatory NSL complex subunit 1-like							144.0	137.0	139.0					2																	210893657		2203	4300	6503	SO:0001583	missense	151050							g.chr2:210893657A>C	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2308T>G	2.37:g.210893657A>C	ENSP00000281772:p.Tyr770Asp					KANSL1L_ENST00000418791.1_Missense_Mutation_p.Y728D	p.Y770D	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN			11	2571	-			770					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.2308T>G	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.233115	0.79688	.	.	ENSG00000144445	ENST00000281772;ENST00000418791	.	.	.	5.19	5.19	0.71726	.	0.369996	0.25795	N	0.028253	T	0.77980	0.4212	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.80841	-0.1202	9	0.87932	D	0	.	14.713	0.69247	1.0:0.0:0.0:0.0	.	728;770	A0AUZ9-2;A0AUZ9	.;CB067_HUMAN	D	770;728	.	ENSP00000281772:Y770D	Y	-	1	0	C2orf67	210601902	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.775000	0.85489	1.961000	0.56991	0.460000	0.39030	TAT		0.368	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		45	65	0	0	0	0.013114	0	45	65				
PGM5	5239	broad.mit.edu	37	9	71098829	71098829	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr9:71098829G>T	ENST00000396396.1	+	9	1573	c.1344G>T	c.(1342-1344)agG>agT	p.R448S		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	448					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ATATCATGAGGGACCTGGAGG	0.507																																						ENST00000396396.1																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(1342-1344)agG>agT		phosphoglucomutase 5							107.0	95.0	99.0					9																	71098829		2203	4300	6503	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71098829G>T	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1344G>T	9.37:g.71098829G>T	ENSP00000379678:p.Arg448Ser						p.R448S	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN			9	1573	+			448					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.1344G>T	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	G	8.226	0.803546	0.16467	.	.	ENSG00000154330	ENST00000396396	T	0.39997	1.05	5.75	2.55	0.30701	.	0.042824	0.85682	D	0.000000	T	0.19765	0.0475	N	0.12182	0.205	0.49130	D	0.999753	B	0.22909	0.077	B	0.26614	0.071	T	0.04255	-1.0965	10	0.12430	T	0.62	.	5.4794	0.16715	0.497:0.0:0.503:0.0	.	448	Q15124	PGM5_HUMAN	S	448	ENSP00000379678:R448S	ENSP00000379678:R448S	R	+	3	2	PGM5	70288649	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	0.303000	0.19210	0.780000	0.33566	0.655000	0.94253	AGG		0.507	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		29	57	1	0	7.38237e-10	0.006320	9.53202e-10	29	57				
ENPP3	5169	broad.mit.edu	37	6	132061454	132061454	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:132061454C>T	ENST00000414305.1	+	25	2719	c.2391C>T	c.(2389-2391)tgC>tgT	p.C797C	ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Silent_p.C797C			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	797	Nuclease.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CGGAAAACTGCCCTGGGTGGC	0.512																																						ENST00000414305.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2389-2391)tgC>tgT		ectonucleotide pyrophosphatase/phosphodiesterase 3							120.0	106.0	110.0					6																	132061454		2203	4300	6503	SO:0001819	synonymous_variant	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132061454C>T	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.2391C>T	6.37:g.132061454C>T						ENPP3_ENST00000357639.3_Silent_p.C797C|ENPP3_ENST00000358229.5_3'UTR	p.C797C			O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	25	2719	+	Breast(56;0.0753)		797			Nuclease.		Q5JTL3	Silent	SNP	ENST00000414305.1	37	c.2391C>T	CCDS5148.1																																																																																				0.512	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			31	50	0	0	0	0.010818	0	31	50				
HRH4	59340	broad.mit.edu	37	18	22056718	22056718	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr18:22056718A>T	ENST00000256906.4	+	3	465	c.365A>T	c.(364-366)tAt>tTt	p.Y122F	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	122					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	TAGGTGTCTTATAGAACTCAA	0.378																																						ENST00000256906.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(364-366)tAt>tTt		histamine receptor H4	Clozapine(DB00363)						131.0	127.0	128.0					18																	22056718		2203	4300	6503	SO:0001583	missense	59340					integral to membrane|plasma membrane	histamine receptor activity	g.chr18:22056718A>T	AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"""GPCR / Class A : Histamine receptors"""	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.365A>T	18.37:g.22056718A>T	ENSP00000256906:p.Tyr122Phe					HRH4_ENST00000426880.2_Intron	p.Y122F	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN			3	465	+	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		122					B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	ENST00000256906.4	37	c.365A>T	CCDS11887.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.902374	0.92035	.	.	ENSG00000134489	ENST00000256906	T	0.51574	0.7	5.79	5.79	0.91817	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.69223	0.3087	.	.	.	0.80722	D	1	D	0.65815	0.995	D	0.70016	0.967	T	0.73266	-0.4037	9	0.72032	D	0.01	-19.3922	15.3188	0.74105	1.0:0.0:0.0:0.0	.	122	Q9H3N8	HRH4_HUMAN	F	122	ENSP00000256906:Y122F	ENSP00000256906:Y122F	Y	+	2	0	HRH4	20310716	1.000000	0.71417	0.967000	0.41034	0.993000	0.82548	8.175000	0.89684	2.212000	0.71576	0.533000	0.62120	TAT		0.378	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254904.1			7	42	0	0	0	0.001984	0	7	42				
PCDHGA2	56113	broad.mit.edu	37	5	140718609	140718609	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:140718609G>T	ENST00000394576.2	+	1	71	c.71G>T	c.(70-72)tGg>tTg	p.W24L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	24					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGACCCTGTGGGAGGCCAGG	0.577											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(70-72)tGg>tTg									54.0	55.0	54.0					5																	140718609		2203	4300	6503	SO:0001583	missense	56113							g.chr5:140718609G>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.71G>T	5.37:g.140718609G>T	ENSP00000378077:p.Trp24Leu		OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_ENST00000517417.1_Intron	p.W24L	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	71	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.71G>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	11.95	1.790210	0.31685	.	.	ENSG00000081853	ENST00000394576	T	0.46451	0.87	5.07	4.19	0.49359	Cadherin (1);	0.000000	0.39146	U	0.001450	T	0.27731	0.0682	L	0.28649	0.875	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.12837	0.008;0.005	T	0.15867	-1.0422	10	0.17832	T	0.49	.	9.1054	0.36694	0.0792:0.147:0.7738:0.0	.	24;24	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	L	24	ENSP00000378077:W24L	ENSP00000378077:W24L	W	+	2	0	PCDHGA2	140698793	0.982000	0.34865	0.353000	0.25747	0.156000	0.22039	2.306000	0.43673	1.268000	0.44264	0.585000	0.79938	TGG		0.577	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		19	42	1	0	1.67942e-08	0.006122	2.12768e-08	19	42				
ROS1	6098	broad.mit.edu	37	6	117709005	117709005	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:117709005G>A	ENST00000368508.3	-	13	2150	c.1952C>T	c.(1951-1953)gCa>gTa	p.A651V	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.A646V	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	651	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGGAGAACTTGCTCTCACAGA	0.488			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(1951-1953)gCa>gTa		c-ros oncogene 1 , receptor tyrosine kinase							125.0	125.0	125.0					6																	117709005		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117709005G>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1952C>T	6.37:g.117709005G>A	ENSP00000357494:p.Ala651Val					GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.A646V	p.A651V	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	13	2150	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	651			Fibronectin type-III 3.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.1952C>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288334	0.80803	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;T	0.94497	-3.44;-0.43	5.24	4.35	0.52113	.	0.191954	0.36591	N	0.002508	D	0.93812	0.8021	M	0.62723	1.935	0.80722	D	1	D	0.56968	0.978	P	0.53360	0.724	D	0.94090	0.7352	10	0.87932	D	0	.	12.2325	0.54497	0.0842:0.0:0.9158:0.0	.	651	P08922	ROS1_HUMAN	V	651;646	ENSP00000357494:A651V;ENSP00000357493:A646V	ENSP00000357493:A646V	A	-	2	0	ROS1	117815698	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.463000	0.66712	2.630000	0.89119	0.561000	0.74099	GCA		0.488	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			50	70	0	0	0	0.014410	0	50	70				
OR52L1	338751	broad.mit.edu	37	11	6007529	6007529	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:6007529G>T	ENST00000332249.4	-	1	686	c.632C>A	c.(631-633)aCa>aAa	p.T211K		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGATTGACTGTGGTTTCTGA	0.493																																					Melanoma(121;653 1666 10547 22796 51255)	ENST00000332249.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30						c.(631-633)aCa>aAa		olfactory receptor, family 52, subfamily L, member 1							124.0	115.0	118.0					11																	6007529		2000	4172	6172	SO:0001583	missense	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6007529G>T	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.632C>A	11.37:g.6007529G>T	ENSP00000330338:p.Thr211Lys						p.T211K	NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	686	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	211					B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	c.632C>A	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	G	1.732	-0.493936	0.04322	.	.	ENSG00000183313	ENST00000332249	T	0.00044	8.83	3.95	2.94	0.34122	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000394	T	0.00144	0.0004	N	0.12831	0.26	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.55509	-0.8130	10	0.02654	T	1	.	6.8404	0.23959	0.0:0.3118:0.5146:0.1736	.	211	Q8NGH7	O52L1_HUMAN	K	211	ENSP00000330338:T211K	ENSP00000330338:T211K	T	-	2	0	OR52L1	5964105	0.000000	0.05858	0.990000	0.47175	0.067000	0.16453	-1.207000	0.03008	1.914000	0.55421	0.313000	0.20887	ACA		0.493	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		55	99	1	0	5.22555e-25	0.014410	8.07804e-25	55	99				
MYO18B	84700	broad.mit.edu	37	22	26242186	26242186	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr22:26242186C>A	ENST00000407587.2	+	19	3660	c.3491C>A	c.(3490-3492)aCc>aAc	p.T1164N	MYO18B_ENST00000536101.1_Missense_Mutation_p.T1163N|MYO18B_ENST00000335473.7_Missense_Mutation_p.T1163N			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1163	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTGAGGAGGACCTTTGCCAGC	0.667																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(3487-3489)aCc>aAc		myosin XVIIIB							65.0	76.0	72.0					22																	26242186		2143	4236	6379	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26242186C>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3491C>A	22.37:g.26242186C>A	ENSP00000386096:p.Thr1164Asn					MYO18B_ENST00000536101.1_Missense_Mutation_p.T1163N|MYO18B_ENST00000407587.2_Missense_Mutation_p.T1164N	p.T1163N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			19	3738	+			1163			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.3488C>A		.	.	.	.	.	.	.	.	.	.	C	16.98	3.272695	0.59649	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87103	-2.21;-2.21;-2.21	4.21	4.21	0.49690	Myosin head, motor domain (2);	0.325367	0.30732	N	0.008999	D	0.92410	0.7591	M	0.77486	2.375	0.29004	N	0.88732	D;D;D;D	0.64830	0.987;0.994;0.971;0.992	P;D;P;D	0.67382	0.872;0.951;0.763;0.918	D	0.88153	0.2852	10	0.62326	D	0.03	.	14.1257	0.65219	0.0:1.0:0.0:0.0	.	676;1163;1164;1163	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	N	1163;1163;1164	ENSP00000441229:T1163N;ENSP00000334563:T1163N;ENSP00000386096:T1164N	ENSP00000334563:T1163N	T	+	2	0	MYO18B	24572186	0.864000	0.29904	0.081000	0.20488	0.493000	0.33554	2.059000	0.41384	2.196000	0.70406	0.561000	0.74099	ACC		0.667	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		27	36	1	0	1.04121e-07	0.005443	1.30929e-07	27	36				
DMD	1756	broad.mit.edu	37	X	32404497	32404497	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chrX:32404497G>T	ENST00000357033.4	-	33	4810	c.4604C>A	c.(4603-4605)aCg>aAg	p.T1535K	DMD_ENST00000378677.2_Missense_Mutation_p.T1531K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1535	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGGATTTTCCGTCTGCTTTTT	0.383																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(4603-4605)aCg>aAg		dystrophin							225.0	189.0	201.0					X																	32404497		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32404497G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4604C>A	X.37:g.32404497G>T	ENSP00000354923:p.Thr1535Lys					DMD_ENST00000378677.2_Missense_Mutation_p.T1531K	p.T1535K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			33	4810	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1535			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.4604C>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	34	5.347640	0.95807	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.61859	0.07;0.07	5.71	5.71	0.89125	.	0.000000	0.38058	U	0.001840	T	0.76644	0.4016	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.988;1.0;1.0;1.0	D;P;D;D;D	0.87578	0.998;0.753;0.997;0.997;0.997	T	0.75036	-0.3459	10	0.36615	T	0.2	.	18.8699	0.92309	0.0:0.0:1.0:0.0	.	1527;1535;1531;194;191	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	K	1527;194;191;1531;1535;1535;1412	ENSP00000367948:T1531K;ENSP00000354923:T1535K	ENSP00000354923:T1535K	T	-	2	0	DMD	32314418	1.000000	0.71417	0.955000	0.39395	0.974000	0.67602	9.869000	0.99810	2.402000	0.81655	0.600000	0.82982	ACG		0.383	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		49	13	1	0	2.43139e-17	0.014410	3.50162e-17	49	13				
MTMR11	10903	broad.mit.edu	37	1	149905389	149905389	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:149905389C>T	ENST00000439741.2	-	10	1145	c.895G>A	c.(895-897)Gat>Aat	p.D299N	MTMR11_ENST00000406732.3_Missense_Mutation_p.D271N|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.D227N	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	299	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AGGACAACATCTGAATGCCCA	0.547																																						ENST00000439741.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.(895-897)Gat>Aat		myotubularin related protein 11							98.0	84.0	89.0					1																	149905389		2203	4300	6503	SO:0001583	missense	10903						phosphatase activity	g.chr1:149905389C>T	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.895G>A	1.37:g.149905389C>T	ENSP00000391668:p.Asp299Asn					MTMR11_ENST00000369140.3_Missense_Mutation_p.D227N|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000406732.3_Missense_Mutation_p.D271N	p.D299N	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		10	1145	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		299			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	c.895G>A	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476299	0.44044	.	.	ENSG00000014914	ENST00000369140;ENST00000439741;ENST00000406732;ENST00000405710	D;D;D	0.92595	-3.07;-2.57;-3.07	5.23	5.23	0.72850	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.218630	0.39020	N	0.001496	D	0.88310	0.6402	N	0.19112	0.55	0.32929	D	0.516813	D;D;D;D	0.63880	0.974;0.991;0.991;0.993	P;P;P;D	0.65233	0.736;0.805;0.889;0.933	D	0.86342	0.1705	10	0.30854	T	0.27	.	11.9347	0.52866	0.0:0.8252:0.1747:0.0	.	141;271;227;299	F8W8W0;A4FU01-6;A4FU01-4;A4FU01	.;.;.;MTMRB_HUMAN	N	227;299;271;141	ENSP00000358136:D227N;ENSP00000391668:D299N;ENSP00000383948:D271N	ENSP00000358136:D227N	D	-	1	0	MTMR11	148172013	0.996000	0.38824	0.897000	0.35233	0.224000	0.24922	4.066000	0.57520	2.736000	0.93811	0.655000	0.94253	GAT		0.547	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		31	105	0	0	0	0.012213	0	31	105				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		5	52	0	0	0	0.000602	0	5	52				
ZNF112	7771	broad.mit.edu	37	19	44832694	44832694	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:44832694C>G	ENST00000337401.4	-	5	1722	c.1634G>C	c.(1633-1635)aGa>aCa	p.R545T	ZNF112_ENST00000354340.4_Missense_Mutation_p.R539T|ZNF112_ENST00000536500.1_Missense_Mutation_p.R562T	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	545					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TGTGTGGACTCTCTGATGAAC	0.423																																						ENST00000354340.4																			0											c.(1615-1617)aGa>aCa		zinc finger protein 112							133.0	136.0	135.0					19																	44832694		2203	4300	6503	SO:0001583	missense	7665							g.chr19:44832694C>G	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1634G>C	19.37:g.44832694C>G	ENSP00000337081:p.Arg545Thr					ZNF112_ENST00000337401.4_Missense_Mutation_p.R545T|ZNF112_ENST00000536500.1_Missense_Mutation_p.R562T	p.R539T	NM_013380.3	NP_037512.3					4	1667	-								A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.1616G>C	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197441	0.58126	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.02421	4.3;4.3;4.3	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36268	N	0.002698	T	0.12987	0.0315	M	0.66560	2.04	0.33973	D	0.647089	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.986;0.992	T	0.01879	-1.1255	10	0.66056	D	0.02	-6.2909	14.011	0.64495	0.0:0.8474:0.1526:0.0	.	544;562;545	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	T	545;545;539;562;544	ENSP00000337081:R545T;ENSP00000346305:R539T;ENSP00000441990:R562T	ENSP00000253426:R544T	R	-	2	0	ZNF285	49524534	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	-0.175000	0.09825	2.541000	0.85698	0.655000	0.94253	AGA		0.423	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		61	101	0	0	0	0.014410	0	61	101				
CPS1	1373	broad.mit.edu	37	2	211473158	211473158	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:211473158G>A	ENST00000233072.5	+	19	2462	c.2266G>A	c.(2266-2268)Ggg>Agg	p.G756R	CPS1_ENST00000451903.2_Missense_Mutation_p.G305R|CPS1_ENST00000430249.2_Missense_Mutation_p.G762R	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	756					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CGTCGTATCCGGGAAGACATC	0.433																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(2266-2268)Ggg>Agg		carbamoyl-phosphate synthase 1, mitochondrial							130.0	124.0	126.0					2																	211473158		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211473158G>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2266G>A	2.37:g.211473158G>A	ENSP00000233072:p.Gly756Arg					CPS1_ENST00000430249.2_Missense_Mutation_p.G762R|CPS1_ENST00000451903.2_Missense_Mutation_p.G305R	p.G756R	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	19	2462	+			756					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2266G>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562701	0.27915	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97256	-4.31;-4.31;-4.31	6.16	6.16	0.99307	ATP-grasp fold, subdomain 2 (1);	0.098532	0.64402	D	0.000001	D	0.94951	0.8367	L	0.48935	1.535	0.58432	D	0.999998	P;P	0.38535	0.635;0.635	B;B	0.31442	0.13;0.13	D	0.93637	0.6961	10	0.39692	T	0.17	-5.3045	20.8598	0.99761	0.0:0.0:1.0:0.0	.	766;756	Q59HF8;P31327	.;CPSM_HUMAN	R	762;764;756;305	ENSP00000402608:G762R;ENSP00000233072:G756R;ENSP00000406136:G305R	ENSP00000233072:G756R	G	+	1	0	CPS1	211181403	1.000000	0.71417	0.992000	0.48379	0.248000	0.25809	7.289000	0.78701	2.937000	0.99478	0.650000	0.86243	GGG		0.433	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			76	85	0	0	0	0.014410	0	76	85				
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473030	22473030	+	RNA	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr15:22473030G>T	ENST00000557788.2	-	0	240							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											TTGAGGGACGGGTTGTAGTTG	0.567																																						ENST00000557788.2																			0																																																			28317							g.chr15:22473030G>T	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22473030G>T														0	240	-									RNA	SNP	ENST00000557788.2	37																																																																																						0.567	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			65	159	1	0	6.20203e-27	0.014410	9.67632e-27	65	159				
FBN1	2200	broad.mit.edu	37	15	48818391	48818391	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr15:48818391G>A	ENST00000316623.5	-	9	1379	c.924C>T	c.(922-924)gtC>gtT	p.V308V		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	308	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGTAACTGCTGACTGTGTTTG	0.403																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(922-924)gtC>gtT		fibrillin 1							122.0	110.0	114.0					15																	48818391		2197	4296	6493	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48818391G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.924C>T	15.37:g.48818391G>A							p.V308V	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	9	1379	-		all_lung(180;0.00279)	308			EGF-like 5; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.924C>T	CCDS32232.1																																																																																				0.403	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			50	11	0	0	0	0.014410	0	50	11				
AKAP13	11214	broad.mit.edu	37	15	86124699	86124699	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr15:86124699G>A	ENST00000394518.2	+	7	3495	c.3400G>A	c.(3400-3402)Gtg>Atg	p.V1134M	AKAP13_ENST00000361243.2_Missense_Mutation_p.V1134M|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1134					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGGTTTGCCAGTGGCTCTACA	0.507																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(3400-3402)Gtg>Atg		A kinase (PRKA) anchor protein 13							91.0	85.0	87.0					15																	86124699		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86124699G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.3400G>A	15.37:g.86124699G>A	ENSP00000378026:p.Val1134Met					AKAP13_ENST00000361243.2_Missense_Mutation_p.V1134M	p.V1134M	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			7	3495	+			1134					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.3400G>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499781	0.26861	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.12672	2.66;2.66	4.89	4.89	0.63831	.	.	.	.	.	T	0.12008	0.0292	N	0.14661	0.345	0.80722	D	1	P;P	0.51791	0.913;0.948	B;P	0.47162	0.339;0.54	T	0.07616	-1.0763	9	0.49607	T	0.09	.	13.5355	0.61644	0.0:0.0:1.0:0.0	.	1134;1134	Q12802;Q12802-2	AKP13_HUMAN;.	M	1134;1134;1133;1133	ENSP00000354718:V1134M;ENSP00000378026:V1134M	ENSP00000354718:V1134M	V	+	1	0	AKAP13	83925703	0.962000	0.33011	0.534000	0.28014	0.018000	0.09664	1.823000	0.39062	2.217000	0.71921	0.655000	0.94253	GTG		0.507	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		64	19	0	0	0	0.014410	0	64	19				
GIN1	54826	broad.mit.edu	37	5	102423676	102423676	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:102423676C>A	ENST00000399004.2	-	8	1589	c.1495G>T	c.(1495-1497)Gat>Tat	p.D499Y	GIN1_ENST00000508629.1_3'UTR	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	499					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		GAACTATGATCGTCTATCAAT	0.318																																						ENST00000399004.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1495-1497)Gat>Tat		gypsy retrotransposon integrase 1							87.0	82.0	83.0					5																	102423676		1822	4075	5897	SO:0001583	missense	54826				DNA integration		DNA binding	g.chr5:102423676C>A	BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.1495G>T	5.37:g.102423676C>A	ENSP00000381970:p.Asp499Tyr					GIN1_ENST00000508629.1_3'UTR	p.D499Y	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)	8	1589	-		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)	499					B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	ENST00000399004.2	37	c.1495G>T	CCDS43349.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640947	0.47153	.	.	ENSG00000145723	ENST00000399004	T	0.29655	1.56	5.51	4.64	0.57946	.	0.000000	0.37483	U	0.002063	T	0.22936	0.0554	L	0.27053	0.805	0.80722	D	1	B	0.15930	0.015	B	0.17979	0.02	T	0.04767	-1.0928	10	0.87932	D	0	-15.6993	10.9501	0.47323	0.1456:0.7143:0.1401:0.0	.	499	Q9NXP7	GIN1_HUMAN	Y	499	ENSP00000381970:D499Y	ENSP00000381970:D499Y	D	-	1	0	GIN1	102451575	0.973000	0.33851	0.997000	0.53966	0.498000	0.33706	2.148000	0.42235	1.440000	0.47531	-0.169000	0.13324	GAT		0.318	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676		33	53	1	0	3.80469e-20	0.009535	5.72403e-20	33	53				
PABPC4	8761	broad.mit.edu	37	1	40030930	40030930	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:40030930C>A	ENST00000372857.3	-	8	1885	c.1093G>T	c.(1093-1095)Gtt>Ttt	p.V365F	PABPC4_ENST00000372858.3_Missense_Mutation_p.V365F|PABPC4_ENST00000372856.3_Missense_Mutation_p.V365F|SNORA55_ENST00000364587.1_RNA|PABPC4_ENST00000372862.3_Missense_Mutation_p.V365F|RP11-69E11.8_ENST00000415255.1_RNA	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	365	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCCAGGGCAACATATAGTGGC	0.507																																						ENST00000372857.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21						c.(1093-1095)Gtt>Ttt		poly(A) binding protein, cytoplasmic 4 (inducible form)							107.0	90.0	96.0					1																	40030930		2203	4300	6503	SO:0001583	missense	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40030930C>A	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1093G>T	1.37:g.40030930C>A	ENSP00000361948:p.Val365Phe					PABPC4_ENST00000372856.3_Missense_Mutation_p.V365F|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.V365F|PABPC4_ENST00000372862.3_Missense_Mutation_p.V365F	p.V365F	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		8	1885	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	365			RRM 4.		B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	c.1093G>T	CCDS438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.955818|4.955818	0.92726|0.92726	.|.	.|.	ENSG00000090621|ENSG00000090621	ENST00000421687;ENST00000527718|ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856	.|T;T;T;T	.|0.10288	.|2.89;2.89;2.89;2.89	6.06|6.06	5.14|5.14	0.70334|0.70334	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51024|0.51024	0.1650|0.1650	H|H	0.98446|0.98446	4.235|4.235	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.85130	.|0.972;0.997;0.986	T|T	0.69367|0.69367	-0.5164|-0.5164	5|10	.|0.87932	.|D	.|0	.|.	15.7739|15.7739	0.78193|0.78193	0.0:0.934:0.0:0.066|0.0:0.934:0.0:0.066	.|.	.|365;365;365	.|Q13310;Q13310-2;Q4VC03	.|PABP4_HUMAN;.;.	I|F	266;91|365	.|ENSP00000361953:V365F;ENSP00000361949:V365F;ENSP00000361948:V365F;ENSP00000361947:V365F	.|ENSP00000361947:V365F	M|V	-|-	3|1	0|0	PABPC4|PABPC4	39803517|39803517	1.000000|1.000000	0.71417|0.71417	0.891000|0.891000	0.34965|0.34965	0.975000|0.975000	0.68041|0.68041	6.060000|6.060000	0.71141|0.71141	2.879000|2.879000	0.98667|0.98667	0.650000|0.650000	0.86243|0.86243	ATG|GTT		0.507	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		30	17	1	0	8.4185e-14	0.012213	1.15327e-13	30	17				
ZDBF2	57683	broad.mit.edu	37	2	207170044	207170044	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:207170044G>C	ENST00000374423.3	+	5	1178	c.792G>C	c.(790-792)atG>atC	p.M264I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	264							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CTTTACGCATGAATTCAGATA	0.388																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(790-792)atG>atC		zinc finger, DBF-type containing 2							29.0	28.0	29.0					2																	207170044		1831	4078	5909	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207170044G>C	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.792G>C	2.37:g.207170044G>C	ENSP00000363545:p.Met264Ile						p.M264I	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	1178	+			264					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.792G>C	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.682746	0.00101	.	.	ENSG00000204186	ENST00000374423	T	0.16457	2.34	5.11	-0.172	0.13327	.	1.300300	0.05692	N	0.592470	T	0.04318	0.0119	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37056	-0.9722	10	0.05436	T	0.98	.	4.646	0.12572	0.351:0.0:0.4608:0.1882	.	264	Q9HCK1	ZDBF2_HUMAN	I	264	ENSP00000363545:M264I	ENSP00000363545:M264I	M	+	3	0	ZDBF2	206878289	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.205000	0.09411	0.009000	0.14813	-1.000000	0.02509	ATG		0.388	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		30	25	0	0	0	0.008361	0	30	25				
GRIA4	2893	broad.mit.edu	37	11	105789531	105789531	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:105789531G>C	ENST00000530497.1	+	10	1363	c.1363G>C	c.(1363-1365)Gca>Cca	p.A455P	GRIA4_ENST00000525187.1_Missense_Mutation_p.A455P|GRIA4_ENST00000282499.5_Missense_Mutation_p.A455P|GRIA4_ENST00000393127.2_Missense_Mutation_p.A455P			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	455					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		ATCTGAAATTGCAAAACATAT	0.353																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(1363-1365)Gca>Cca		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						92.0	87.0	89.0					11																	105789531		2202	4299	6501	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105789531G>C	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1363G>C	11.37:g.105789531G>C	ENSP00000435775:p.Ala455Pro					GRIA4_ENST00000530497.1_Missense_Mutation_p.A455P|GRIA4_ENST00000525187.1_Missense_Mutation_p.A455P|GRIA4_ENST00000282499.5_Missense_Mutation_p.A455P	p.A455P	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	11	1809	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	455					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.1363G>C	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.995749	0.93167	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.46	5.46	0.80206	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000002	D	0.93569	0.7947	H	0.96889	3.9	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.74674	0.984;0.956	D	0.95237	0.8348	10	0.87932	D	0	.	19.6752	0.95928	0.0:0.0:1.0:0.0	.	455;455	P48058;G3V164	GRIA4_HUMAN;.	P	455	ENSP00000282499:A455P;ENSP00000376835:A455P;ENSP00000435775:A455P;ENSP00000432180:A455P	ENSP00000282499:A455P	A	+	1	0	GRIA4	105294741	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.718000	0.92993	0.650000	0.86243	GCA		0.353	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			13	5	0	0	0	0.013537	0	13	5				
CSMD3	114788	broad.mit.edu	37	8	113697930	113697930	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:113697930C>A	ENST00000297405.5	-	15	2431	c.2187G>T	c.(2185-2187)atG>atT	p.M729I	CSMD3_ENST00000455883.2_Missense_Mutation_p.M625I|CSMD3_ENST00000352409.3_Missense_Mutation_p.M729I|CSMD3_ENST00000343508.3_Missense_Mutation_p.M689I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	729	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAACTGTTCCCATTGGTGCAG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(2185-2187)atG>atT		CUB and Sushi multiple domains 3							72.0	80.0	77.0					8																	113697930		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113697930C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2187G>T	8.37:g.113697930C>A	ENSP00000297405:p.Met729Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.M625I|CSMD3_ENST00000352409.3_Missense_Mutation_p.M729I|CSMD3_ENST00000343508.3_Missense_Mutation_p.M689I	p.M729I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			15	2431	-			729			CUB 4.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2187G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251803	0.59212	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	5.72	5.72	0.89469	CUB (5);	0.118364	0.52532	D	0.000074	T	0.19366	0.0465	N	0.14661	0.345	0.33814	D	0.628217	P;P;P	0.51147	0.69;0.562;0.942	B;P;P	0.51582	0.333;0.545;0.674	T	0.07252	-1.0782	10	0.27785	T	0.31	.	19.8753	0.96867	0.0:1.0:0.0:0.0	.	625;729;689	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	689;729;69;625;729	ENSP00000345799:M689I;ENSP00000297405:M729I;ENSP00000341558:M69I;ENSP00000412263:M625I;ENSP00000343124:M729I	ENSP00000297405:M729I	M	-	3	0	CSMD3	113767106	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.390000	0.44416	2.711000	0.92665	0.655000	0.94253	ATG		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		27	64	1	0	1.74197e-06	0.006320	2.12697e-06	27	64				
DUS3L	56931	broad.mit.edu	37	19	5786796	5786796	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:5786796C>T	ENST00000309061.7	-	9	1546	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	DUS3L_ENST00000320699.8_Missense_Mutation_p.E242K|CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000590681.1_5'Flank|PRR22_ENST00000419421.2_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	484							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TGCACGCACTCCTCGATGTAC	0.667																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(1450-1452)Gag>Aag		dihydrouridine synthase 3-like (S. cerevisiae)							36.0	42.0	40.0					19																	5786796		2198	4297	6495	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5786796C>T		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1450G>A	19.37:g.5786796C>T	ENSP00000311977:p.Glu484Lys					DUS3L_ENST00000320699.8_Missense_Mutation_p.E242K	p.E484K	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			9	1546	-			484					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.1450G>A	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.176133	0.38413	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.30981	1.51;1.51	5.01	3.95	0.45737	Aldolase-type TIM barrel (1);	0.398964	0.27720	N	0.018123	T	0.22244	0.0536	N	0.21545	0.675	0.32095	N	0.591319	B;B	0.11235	0.002;0.004	B;B	0.22152	0.008;0.038	T	0.14671	-1.0464	10	0.30854	T	0.27	-24.0801	13.3013	0.60326	0.0:0.1632:0.8368:0.0	.	242;484	Q96G46-3;Q96G46	.;DUS3L_HUMAN	K	484;242	ENSP00000311977:E484K;ENSP00000315558:E242K	ENSP00000311977:E484K	E	-	1	0	DUS3L	5737796	0.954000	0.32549	1.000000	0.80357	0.840000	0.47671	1.780000	0.38634	1.101000	0.41535	-0.290000	0.09829	GAG		0.667	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		19	33	0	0	0	0.014323	0	19	33				
MRPL39	54148	broad.mit.edu	37	21	26960033	26960033	+	Intron	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr21:26960033G>A	ENST00000352957.4	-	9	1011				MRPL39_ENST00000307301.7_Silent_p.L346L	NM_017446.3	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39							mitochondrial ribosome (GO:0005761)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						TTCCATGGAGGAGGTACGACT	0.348																																						ENST00000307301.7																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						c.(1036-1038)ctC>ctT		mitochondrial ribosomal protein L39							75.0	73.0	73.0					21																	26960033		2203	4300	6503	SO:0001627	intron_variant	54148					mitochondrial ribosome	nucleotide binding	g.chr21:26960033G>A	AB051346	CCDS13573.1, CCDS33522.1	21q11.2-q21	2012-09-13			ENSG00000154719	ENSG00000154719		"""Mitochondrial ribosomal proteins / large subunits"""	14027	protein-coding gene	gene with protein product		611845				11543634	Standard	NM_080794		Approved	RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451	uc002yln.3	Q9NYK5	OTTHUMG00000078371	ENST00000352957.4:c.969+1113C>T	21.37:g.26960033G>A						MRPL39_ENST00000352957.4_Intron	p.L346L	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN			10	1079	-			0					C9JYA5|Q32Q74|Q5QTR3|Q96Q65|Q9BSQ7|Q9BZV6|Q9NX44	Silent	SNP	ENST00000352957.4	37	c.1038C>T	CCDS13573.1																																																																																				0.348	MRPL39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171194.1	NM_017446		15	38	0	0	0	0.003163	0	15	38				
NAPRT	93100	broad.mit.edu	37	8	144658323	144658323	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:144658323C>A	ENST00000449291.2	-	8	1326	c.1032G>T	c.(1030-1032)gtG>gtT	p.V344V	RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000460623.1_5'UTR|NAPRT1_ENST00000426292.3_Silent_p.V344V|NAPRT1_ENST00000276844.7_Silent_p.V344V|NAPRT1_ENST00000435154.3_Silent_p.V344V																endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCAGCCAGGGCACCTGGAACC	0.667																																						ENST00000449291.2																			0				endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(1030-1032)gtG>gtT		nicotinate phosphoribosyltransferase domain containing 1							30.0	30.0	30.0					8																	144658323		2201	4298	6499	SO:0001819	synonymous_variant	93100				nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr8:144658323C>A																												ENST00000449291.2:c.1032G>T	8.37:g.144658323C>A						NAPRT1_ENST00000460623.1_5'UTR|NAPRT1_ENST00000435154.3_Silent_p.V344V|NAPRT1_ENST00000426292.3_Silent_p.V344V|NAPRT1_ENST00000276844.7_Silent_p.V344V|RP11-661A12.9_ENST00000531730.1_RNA	p.V344V			Q6XQN6	PNCB_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)		8	1326	-	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		344						Silent	SNP	ENST00000449291.2	37	c.1032G>T	CCDS6403.2																																																																																				0.667	NAPRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346708.3			20	34	1	0	7.41877e-09	0.012319	9.50618e-09	20	34				
MAST4	375449	broad.mit.edu	37	5	66429471	66429471	+	Silent	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:66429471A>G	ENST00000403625.2	+	17	2518	c.2223A>G	c.(2221-2223)aaA>aaG	p.K741K	MAST4_ENST00000405643.1_Silent_p.K562K|MAST4_ENST00000403666.1_Silent_p.K552K|MAST4_ENST00000404260.3_Silent_p.K744K|MAST4_ENST00000261569.7_Silent_p.K547K	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	744	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCCTGGATAAACAGGTAAGCT	0.408																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(2230-2232)aaA>aaG		microtubule associated serine/threonine kinase family member 4							130.0	125.0	126.0					5																	66429471		1904	4103	6007	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66429471A>G	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.2223A>G	5.37:g.66429471A>G						MAST4_ENST00000403666.1_Silent_p.K552K|MAST4_ENST00000405643.1_Silent_p.K562K|MAST4_ENST00000261569.7_Silent_p.K547K|MAST4_ENST00000403625.2_Silent_p.K741K	p.K744K			O15021	MAST4_HUMAN		Lung(70;0.011)	17	2540	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	744			Protein kinase.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.2232A>G	CCDS54861.1																																																																																				0.408	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			21	37	0	0	0	0.010504	0	21	37				
ZNF233	353355	broad.mit.edu	37	19	44778658	44778658	+	Silent	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:44778658G>T	ENST00000391958.2	+	5	1972	c.1845G>T	c.(1843-1845)acG>acT	p.T615T	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Silent_p.T597T|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	615					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GGATCCACACGGGAGAGAAAC	0.438																																						ENST00000391958.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20						c.(1843-1845)acG>acT		zinc finger protein 233							95.0	93.0	94.0					19																	44778658		2203	4300	6503	SO:0001819	synonymous_variant	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44778658G>T	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1845G>T	19.37:g.44778658G>T						ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Silent_p.T597T|ZNF235_ENST00000589799.1_Intron	p.T615T	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN			5	1972	+		Prostate(69;0.0435)|all_neural(266;0.226)	615					B2RN78|B2RN79|Q86WL8	Silent	SNP	ENST00000391958.2	37	c.1845G>T	CCDS33047.1																																																																																				0.438	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		38	56	1	0	1.06647e-15	0.003755	1.51646e-15	38	56				
RP11-478B9.1	0	broad.mit.edu	37	12	45459000	45459000	+	RNA	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr12:45459000C>T	ENST00000548424.1	+	0	448																											AGTCAGTCCTCTCCCACTTTT	0.448																																						ENST00000548424.1																			0																																																			0							g.chr12:45459000C>T																													12.37:g.45459000C>T														0	448	+									RNA	SNP	ENST00000548424.1	37																																																																																						0.448	RP11-478B9.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000404811.1			10	17	0	0	0	0.006214	0	10	17				
IRF8	3394	broad.mit.edu	37	16	85946795	85946795	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr16:85946795G>T	ENST00000268638.5	+	5	928	c.506G>T	c.(505-507)tGt>tTt	p.C169F	IRF8_ENST00000562492.1_5'Flank	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	169					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CCGGAGGCCTGTCGGAGTCAG	0.617																																						ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(505-507)tGt>tTt		interferon regulatory factor 8							95.0	100.0	98.0					16																	85946795		2198	4300	6498	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85946795G>T	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.506G>T	16.37:g.85946795G>T	ENSP00000268638:p.Cys169Phe						p.C169F	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			5	928	+		Prostate(104;0.0771)	169					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.506G>T	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342533	0.61073	.	.	ENSG00000140968	ENST00000268638	D	0.97041	-4.22	4.86	4.86	0.63082	.	0.506206	0.24479	N	0.038161	D	0.95354	0.8492	L	0.58101	1.795	0.80722	D	1	B	0.33073	0.396	B	0.33392	0.163	D	0.94497	0.7706	10	0.15499	T	0.54	-33.2094	18.3574	0.90362	0.0:0.0:1.0:0.0	.	169	Q02556	IRF8_HUMAN	F	169	ENSP00000268638:C169F	ENSP00000268638:C169F	C	+	2	0	IRF8	84504296	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.208000	0.77907	2.420000	0.82092	0.561000	0.74099	TGT		0.617	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		48	88	1	0	6.17242e-35	0.014410	1.00488e-34	48	88				
UBBP4	23666	broad.mit.edu	37	17	21731491	21731491	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr17:21731491C>A	ENST00000578713.1	+	2	570	c.566C>A	c.(565-567)cCc>cAc	p.P189H	UBBP4_ENST00000584755.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GAAGGCATCCCCCCCGATCAG	0.537																																						ENST00000578713.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(565-567)cCc>cAc																																						SO:0001583	missense	23666							g.chr17:21731491C>A	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.566C>A	17.37:g.21731491C>A	ENSP00000464265:p.Pro189His					UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_3'UTR	p.P189H							2	570	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.566C>A																																																																																					0.537	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			21	37	1	0	2.37509e-13	0.010504	3.24051e-13	21	37				
LAMA1	284217	broad.mit.edu	37	18	7079974	7079974	+	Splice_Site	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr18:7079974C>G	ENST00000389658.3	-	3	438	c.345G>C	c.(343-345)caG>caC	p.Q115H	RP11-76K13.3_ENST00000581502.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	115	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCTCACCTACCTGTCTTAAGT	0.468																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.e3+1		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						173.0	129.0	144.0					18																	7079974		2203	4300	6503	SO:0001630	splice_region_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7079974C>G	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.345+1G>C	18.37:g.7079974C>G						RP11-76K13.3_ENST00000581502.1_RNA	p.Q115_splice	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			3	438	-		Colorectal(10;0.172)	115			Laminin N-terminal.			Splice_Site	SNP	ENST00000389658.3	37	c.345_splice	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644320	0.87859	.	.	ENSG00000101680	ENST00000389658	T	0.76448	-1.02	5.61	5.61	0.85477	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.89368	0.6695	M	0.90309	3.105	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.90709	0.4626	9	.	.	.	.	12.904	0.58141	0.0:0.9261:0.0:0.0739	.	115	P25391	LAMA1_HUMAN	H	115	ENSP00000374309:Q115H	.	Q	-	3	2	LAMA1	7069974	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.782000	0.68973	2.652000	0.90054	0.655000	0.94253	CAG		0.468	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	Missense_Mutation	9	59	0	0	0	0.004482	0	9	59				
ABCD2	225	broad.mit.edu	37	12	39947723	39947723	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr12:39947723C>G	ENST00000308666.3	-	10	2349	c.2214G>C	c.(2212-2214)gaG>gaC	p.E738D		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	738					fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						ATTAAGATGTCTCATCTTCAT	0.323																																						ENST00000308666.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(2212-2214)gaG>gaC		ATP-binding cassette, sub-family D (ALD), member 2							48.0	45.0	46.0					12																	39947723		2201	4298	6499	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:39947723C>G	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.2214G>C	12.37:g.39947723C>G	ENSP00000310688:p.Glu738Asp						p.E738D	NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN			10	2349	-			738					B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.2214G>C	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	1.802	-0.476821	0.04414	.	.	ENSG00000173208	ENST00000308666	D	0.94330	-3.4	4.44	-1.06	0.10002	.	1.245250	0.05397	N	0.539993	D	0.82907	0.5139	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.70608	-0.4825	9	.	.	.	-27.193	5.5709	0.17196	0.0:0.3827:0.1419:0.4754	.	738	Q9UBJ2	ABCD2_HUMAN	D	738	ENSP00000310688:E738D	.	E	-	3	2	ABCD2	38233990	0.007000	0.16637	0.018000	0.16275	0.492000	0.33523	-0.187000	0.09656	-0.079000	0.12707	-0.253000	0.11424	GAG		0.323	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		4	7	0	0	0	0.009096	0	4	7				
NPAP1	23742	broad.mit.edu	37	15	24923926	24923926	+	Missense_Mutation	SNP	C	C	G	rs267604139		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr15:24923926C>G	ENST00000329468.2	+	1	3386	c.2912C>G	c.(2911-2913)gCt>gGt	p.A971G		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	971					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											AATGCAAGTGCTTTCCCCAAT	0.483																																						ENST00000329468.2																			0											c.(2911-2913)gCt>gGt		nuclear pore associated protein 1							70.0	71.0	71.0					15																	24923926		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24923926C>G	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2912C>G	15.37:g.24923926C>G	ENSP00000333735:p.Ala971Gly						p.A971G	NM_018958.2	NP_061831.2					1	3386	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.2912C>G	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	4.084	0.013468	0.07959	.	.	ENSG00000185823	ENST00000329468	T	0.07114	3.22	1.93	-0.453	0.12201	.	1.256340	0.06000	N	0.647540	T	0.03739	0.0106	N	0.19112	0.55	0.09310	N	1	P	0.50710	0.938	B	0.31751	0.135	T	0.40421	-0.9564	10	0.24483	T	0.36	.	4.4001	0.11383	0.0:0.5669:0.0:0.4331	.	971	Q9NZP6	CO002_HUMAN	G	971	ENSP00000333735:A971G	ENSP00000333735:A971G	A	+	2	0	C15orf2	22475019	0.000000	0.05858	0.002000	0.10522	0.117000	0.20001	-0.361000	0.07612	-0.102000	0.12197	0.313000	0.20887	GCT		0.483	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		28	16	0	0	0	0.005443	0	28	16				
PLEC	5339	broad.mit.edu	37	8	145016653	145016653	+	Intron	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:145016653G>T	ENST00000322810.4	-	2	693				PLEC_ENST00000354958.2_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000398774.2_Intron|MIR661_ENST00000384842.1_RNA|PLEC_ENST00000345136.3_5'Flank|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000357649.2_Missense_Mutation_p.P11T|PLEC_ENST00000354589.3_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin						apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACCTCCCTCGGCGAGGCAAAG	0.756																																						ENST00000357649.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(31-33)Ccg>Acg		plectin							5.0	7.0	6.0					8																	145016653		1688	3848	5536	SO:0001627	intron_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145016653G>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.524-3793C>A	8.37:g.145016653G>T						PLEC_ENST00000354958.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000354589.3_Intron|PLEC_ENST00000322810.4_Intron|PLEC_ENST00000398774.2_Intron|PLEC_ENST00000356346.3_Intron	p.P11T	NM_201383.1	NP_958785.1	Q15149	PLEC_HUMAN			1	39	-			0			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.31C>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	5.687	0.311364	0.10789	.	.	ENSG00000178209	ENST00000357649	T	0.80480	-1.38	3.67	2.69	0.31865	.	.	.	.	.	T	0.65923	0.2738	.	.	.	0.23978	N	0.996288	B	0.09022	0.002	B	0.09377	0.004	T	0.51694	-0.8673	8	0.26408	T	0.33	.	8.1341	0.31043	0.0:0.25:0.75:0.0	.	11	Q15149-6	.	T	11	ENSP00000350277:P11T	ENSP00000350277:P11T	P	-	1	0	PLEC	145088641	0.002000	0.14202	0.247000	0.24249	0.086000	0.17979	0.879000	0.28146	1.588000	0.49971	0.561000	0.74099	CCG		0.756	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		23	13	1	0	4.54149e-19	0.014323	6.74221e-19	23	13				
RYR2	6262	broad.mit.edu	37	1	237660034	237660034	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:237660034G>C	ENST00000366574.2	+	20	2502	c.2185G>C	c.(2185-2187)Ggc>Cgc	p.G729R	RYR2_ENST00000360064.6_Missense_Mutation_p.G727R|RYR2_ENST00000542537.1_Missense_Mutation_p.G713R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	729	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGATTTGATGGCCTTCATCT	0.493																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(2185-2187)Ggc>Cgc		ryanodine receptor 2 (cardiac)							157.0	163.0	161.0					1																	237660034		1969	4163	6132	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237660034G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2185G>C	1.37:g.237660034G>C	ENSP00000355533:p.Gly729Arg					RYR2_ENST00000360064.6_Missense_Mutation_p.G727R|RYR2_ENST00000542537.1_Missense_Mutation_p.G713R	p.G729R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		20	2502	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	729			B30.2/SPRY 1.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2185G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888374	0.91814	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.71461	-0.57;-0.57;-0.57	5.98	5.98	0.97165	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000004	D	0.90438	0.7006	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92655	0.6136	10	0.87932	D	0	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	729	Q92736	RYR2_HUMAN	R	729;727;713	ENSP00000355533:G729R;ENSP00000353174:G727R;ENSP00000443798:G713R	ENSP00000353174:G727R	G	+	1	0	RYR2	235726657	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.813000	0.99286	2.835000	0.97688	0.650000	0.86243	GGC		0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		65	188	0	0	0	0.014410	0	65	188				
PANK3	79646	broad.mit.edu	37	5	168006280	168006280	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:168006280G>A	ENST00000239231.6	-	1	325	c.9C>T	c.(7-9)atC>atT	p.I3I		NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	3					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		TGGCATCTTTGATCTTCATGG	0.706																																						ENST00000239231.6																			0				NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(7-9)atC>atT		pantothenate kinase 3							20.0	21.0	21.0					5																	168006280		2202	4299	6501	SO:0001819	synonymous_variant	79646				coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity	g.chr5:168006280G>A	AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.9C>T	5.37:g.168006280G>A							p.I3I	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)	1	325	-	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	3					D3DQL1|Q53FJ9|Q7RTX4	Silent	SNP	ENST00000239231.6	37	c.9C>T	CCDS4368.1																																																																																				0.706	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2	NM_024594		6	9	0	0	0	0.001984	0	6	9				
LUM	4060	broad.mit.edu	37	12	91502199	91502199	+	Silent	SNP	G	G	C	rs144214151		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr12:91502199G>C	ENST00000266718.4	-	2	1012	c.558C>G	c.(556-558)ctC>ctG	p.L186L	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	186					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CAAGGTATTCGAGTGATTTAA	0.433																																						ENST00000266718.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(556-558)ctC>ctG		lumican							121.0	119.0	120.0					12																	91502199		2203	4300	6503	SO:0001819	synonymous_variant	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91502199G>C	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.558C>G	12.37:g.91502199G>C						LUM_ENST00000548071.1_Intron	p.L186L	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN			2	1012	-			186					B2R6R5|Q96QM7	Silent	SNP	ENST00000266718.4	37	c.558C>G	CCDS9038.1																																																																																				0.433	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		40	12	0	0	0	0.006230	0	40	12				
CYFIP1	23191	broad.mit.edu	37	15	22956494	22956494	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr15:22956494G>C	ENST00000313077.7	+	16	1856	c.1731G>C	c.(1729-1731)aaG>aaC	p.K577N	CYFIP1_ENST00000435939.2_Missense_Mutation_p.K146N|CYFIP1_ENST00000560848.1_Missense_Mutation_p.K577N	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GTGGTTCCAAGAAAACCTTGA	0.408																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1729-1731)aaG>aaC		cytoplasmic FMR1 interacting protein 1							76.0	72.0	73.0					15																	22956494		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22956494G>C	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1731G>C	15.37:g.22956494G>C	ENSP00000324549:p.Lys577Asn					CYFIP1_ENST00000435939.2_Missense_Mutation_p.K146N|CYFIP1_ENST00000560848.1_Missense_Mutation_p.K577N	p.K577N	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	16	1856	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	577						Missense_Mutation	SNP	ENST00000313077.7	37	c.1731G>C	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063767	0.93898	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.27557	1.66;1.66	5.74	5.74	0.90152	.	0.160332	0.44902	D	0.000401	T	0.61590	0.2359	M	0.82323	2.585	0.80722	D	1	D;D;P	0.69078	0.997;0.987;0.753	D;P;P	0.80764	0.994;0.868;0.86	T	0.60332	-0.7284	10	0.45353	T	0.12	-48.2093	20.2982	0.98569	0.0:0.0:1.0:0.0	.	605;146;577	E7EQ04;Q7L576-2;Q7L576	.;.;CYFP1_HUMAN	N	577;605;146	ENSP00000324549:K577N;ENSP00000405956:K146N	ENSP00000324549:K577N	K	+	3	2	CYFIP1	20507935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.643000	0.98464	2.873000	0.98535	0.563000	0.77884	AAG		0.408	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		32	15	0	0	0	0.009535	0	32	15				
THRA	7067	broad.mit.edu	37	17	38249328	38249328	+	Missense_Mutation	SNP	C	C	A	rs201283167		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr17:38249328C>A	ENST00000264637.4	+	10	1746	c.1166C>A	c.(1165-1167)cCg>cAg	p.P389Q	NR1D1_ENST00000246672.3_3'UTR|THRA_ENST00000394121.4_Missense_Mutation_p.P389Q|THRA_ENST00000584985.1_Intron	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	389					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GAAGGCCGGCCGGGCGGGTCA	0.552																																						ENST00000264637.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(1165-1167)cCg>cAg		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)						40.0	46.0	44.0					17																	38249328		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38249328C>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.1166C>A	17.37:g.38249328C>A	ENSP00000264637:p.Pro389Gln					NR1D1_ENST00000246672.3_3'UTR|THRA_ENST00000394121.4_Missense_Mutation_p.P389Q|THRA_ENST00000584985.1_Intron	p.P389Q	NM_003250.5	NP_003241.2	P10827	THA_HUMAN			10	1746	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	389					A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.1166C>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.496592	0.26861	.	.	ENSG00000126351	ENST00000394121;ENST00000264637	D;D	0.92149	-2.98;-2.98	4.9	2.83	0.33086	.	0.274718	0.33916	N	0.004437	T	0.77605	0.4155	N	0.08118	0	0.80722	D	1	B	0.31879	0.344	B	0.22386	0.039	T	0.74080	-0.3780	10	0.31617	T	0.26	.	5.9447	0.19211	0.0:0.7025:0.1953:0.1021	.	389	P10827	THA_HUMAN	Q	389	ENSP00000377679:P389Q;ENSP00000264637:P389Q	ENSP00000264637:P389Q	P	+	2	0	THRA	35502854	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	0.663000	0.25053	2.538000	0.85594	0.563000	0.77884	CCG		0.552	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			31	57	1	0	4.4194e-11	0.013726	5.84054e-11	31	57				
PDE10A	10846	broad.mit.edu	37	6	165957010	165957010	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:165957010C>A	ENST00000366882.1	-	3	238	c.84G>T	c.(82-84)caG>caT	p.Q28H	PDE10A_ENST00000354448.4_Missense_Mutation_p.Q28H|PDE10A_ENST00000539869.2_Missense_Mutation_p.Q38H			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	28					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.Q28fs*5(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CATCTAATACCTGGGGGTGAA	0.358																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			1	Insertion - Frameshift(1)	p.Q28fs*5(1)	breast(1)	breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(82-84)caG>caT		phosphodiesterase 10A	Dipyridamole(DB00975)						138.0	131.0	134.0					6																	165957010		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165957010C>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.84G>T	6.37:g.165957010C>A	ENSP00000355847:p.Gln28His					PDE10A_ENST00000539869.2_Missense_Mutation_p.Q38H|PDE10A_ENST00000354448.4_Missense_Mutation_p.Q28H	p.Q28H			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	3	238	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	28					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.84G>T		.	.	.	.	.	.	.	.	.	.	C	19.90	3.912389	0.72983	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.71817	-0.6;-0.6	5.49	2.78	0.32641	.	0.058526	0.64402	D	0.000001	T	0.69913	0.3164	L	0.53249	1.67	0.43195	D	0.995035	D;D	0.58970	0.98;0.984	D;P	0.69654	0.965;0.527	T	0.70648	-0.4814	10	0.51188	T	0.08	.	10.3374	0.43858	0.0:0.7863:0.0:0.2137	.	38;28	Q9ULW9;Q9Y233	.;PDE10_HUMAN	H	28;56;38;28;27	ENSP00000355847:Q28H;ENSP00000346435:Q28H	ENSP00000341187:Q38H	Q	-	3	2	PDE10A	165877000	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.553000	0.36255	0.388000	0.25054	0.585000	0.79938	CAG		0.358	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			18	28	1	0	5.03518e-11	0.007413	6.62835e-11	18	28				
CAPN6	827	broad.mit.edu	37	X	110491846	110491846	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chrX:110491846T>G	ENST00000324068.1	-	10	1602	c.1435A>C	c.(1435-1437)Acc>Ccc	p.T479P	CAPN6_ENST00000541758.1_Missense_Mutation_p.T224P	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	479	Domain III.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AACTCGCTGGTGCGACCATGC	0.502																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(1435-1437)Acc>Ccc		calpain 6							87.0	74.0	78.0					X																	110491846		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110491846T>G	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1435A>C	X.37:g.110491846T>G	ENSP00000317214:p.Thr479Pro					CAPN6_ENST00000541758.1_Missense_Mutation_p.T224P	p.T479P	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			10	1602	-			479			Domain III.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.1435A>C	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.339347	0.41398	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	D;D	0.87412	-2.25;-2.25	5.97	4.82	0.62117	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.101677	0.64402	D	0.000003	T	0.74786	0.3762	N	0.14661	0.345	0.38278	D	0.942333	B	0.18013	0.025	B	0.21360	0.034	T	0.71663	-0.4525	10	0.40728	T	0.16	.	7.3572	0.26725	0.0:0.1602:0.0:0.8398	.	479	Q9Y6Q1	CAN6_HUMAN	P	479;224	ENSP00000317214:T479P;ENSP00000441736:T224P	ENSP00000317214:T479P	T	-	1	0	CAPN6	110378502	0.446000	0.25665	0.999000	0.59377	0.997000	0.91878	1.014000	0.29950	2.009000	0.58944	0.486000	0.48141	ACC		0.502	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			15	4	0	0	0	0.004007	0	15	4				
MET	4233	broad.mit.edu	37	7	116339752	116339752	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:116339752A>G	ENST00000318493.6	+	2	801	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	MET_ENST00000397752.3_Missense_Mutation_p.Y205C|MET_ENST00000436117.2_Missense_Mutation_p.Y205C			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AATTCTTCTTATTTCCCAGAT	0.418			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(613-615)tAt>tGt		met proto-oncogene							140.0	137.0	138.0					7																	116339752		1894	4112	6006	SO:0001583	missense	4233	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116339752A>G	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.614A>G	7.37:g.116339752A>G	ENSP00000317272:p.Tyr205Cys					MET_ENST00000436117.2_Missense_Mutation_p.Y205C|MET_ENST00000318493.6_Missense_Mutation_p.Y205C	p.Y205C	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		2	814	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	205			Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.614A>G	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	A	10.19	1.283018	0.23392	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.04502	3.61;3.61;3.61	6.17	3.64	0.41730	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.521170	0.20749	N	0.086383	T	0.16514	0.0397	M	0.84219	2.685	0.23238	N	0.998064	D;P;D;P;P;P;P;P;P;P;P;P;P	0.56968	0.978;0.909;0.974;0.909;0.909;0.909;0.909;0.909;0.836;0.508;0.797;0.899;0.899	P;P;P;P;P;P;P;P;P;P;P;P;P	0.59948	0.645;0.684;0.866;0.84;0.84;0.684;0.84;0.684;0.506;0.556;0.684;0.8;0.8	T	0.04041	-1.0982	10	0.52906	T	0.07	.	7.2487	0.26138	0.4814:0.3758:0.0:0.1428	.	205;205;205;205;205;205;205;205;205;205;205;205;205	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	C	205	ENSP00000380860:Y205C;ENSP00000317272:Y205C;ENSP00000410980:Y205C	ENSP00000317272:Y205C	Y	+	2	0	MET	116126988	0.004000	0.15560	0.486000	0.27416	0.650000	0.38633	0.745000	0.26259	1.119000	0.41883	0.533000	0.62120	TAT		0.418	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			67	89	0	0	0	0.014410	0	67	89				
NUDT9	53343	broad.mit.edu	37	4	88344060	88344060	+	Start_Codon_SNP	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr4:88344060G>A	ENST00000302174.4	+	1	327	c.3G>A	c.(1-3)atG>atA	p.M1I	NUDT9_ENST00000473942.1_Intron	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	1					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		GGGCGCTCATGGCGGGACGCC	0.672																																						ENST00000302174.4																			0				endometrium(1)|large_intestine(4)|lung(6)	11						c.(1-3)atG>atA		nudix (nucleoside diphosphate linked moiety X)-type motif 9							57.0	63.0	61.0					4																	88344060		2203	4300	6503	SO:0001582	initiator_codon_variant	53343					mitochondrion	ADP-ribose diphosphatase activity	g.chr4:88344060G>A	AY026252	CCDS3620.1, CCDS3621.1	4q22.1	2008-08-29			ENSG00000170502	ENSG00000170502		"""Nudix motif containing"""	8056	protein-coding gene	gene with protein product		606022				11385575, 12427752	Standard	NM_024047		Approved	MGC3037	uc003hqq.3	Q9BW91	OTTHUMG00000130591	ENST00000302174.4:c.3G>A	4.37:g.88344060G>A	ENSP00000303575:p.Met1Ile					NUDT9_ENST00000473942.1_Intron	p.M1I	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000937)	1	327	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1					Q8NBN1|Q8NCB9|Q8NG25	Translation_Start_Site	SNP	ENST00000302174.4	37	c.3G>A	CCDS3620.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098427	0.56183	.	.	ENSG00000170502	ENST00000302174;ENST00000440591	T;T	0.18016	2.48;2.24	4.26	4.26	0.50523	.	0.107922	0.64402	D	0.000011	T	0.33352	0.0860	.	.	.	0.80722	D	1	P;P	0.45126	0.851;0.851	P;P	0.55391	0.775;0.775	T	0.05402	-1.0887	9	0.87932	D	0	-17.7439	12.3707	0.55254	0.0:0.0:1.0:0.0	.	1;1	Q96KB3;Q9BW91	.;NUDT9_HUMAN	I	1	ENSP00000303575:M1I;ENSP00000410270:M1I	ENSP00000303575:M1I	M	+	3	0	NUDT9	88563084	1.000000	0.71417	1.000000	0.80357	0.108000	0.19459	4.130000	0.57964	2.356000	0.79943	0.585000	0.79938	ATG		0.672	NUDT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253035.2		Missense_Mutation	32	52	0	0	0	0.009535	0	32	52				
TNR	7143	broad.mit.edu	37	1	175362961	175362962	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:175362961_175362962insA	ENST00000367674.2	-	6	2018_2019	c.1310_1311insT	c.(1309-1311)cccfs	p.P437fs	TNR_ENST00000263525.2_Frame_Shift_Ins_p.P437fs			Q92752	TENR_HUMAN	tenascin R	437	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAAATGAGAAGGGCTCCCACTG	0.455																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(1309-1311)cttfs		tenascin R																																				SO:0001589	frameshift_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175362961_175362962insA	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1310_1311insT	1.37:g.175362961_175362962insA	ENSP00000356646:p.Pro437fs					TNR_ENST00000263525.2_Frame_Shift_Ins_p.L437fs	p.L437fs	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			6	2018_2019	-	Renal(580;0.146)		437			Fibronectin type-III 2.		C9J563|Q15568|Q5R3G0	Frame_Shift_Ins	INS	ENST00000367674.2	37	c.1310_1311insT	CCDS1318.1																																																																																				0.455	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		164	157						164	157	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197390341	197390355	+	In_Frame_Del	DEL	AGATGGCCAGCATGG	AGATGGCCAGCATGG	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:197390341_197390355delAGATGGCCAGCATGG	ENST00000367400.3	+	6	1518_1532	c.1383_1397delAGATGGCCAGCATGG	c.(1381-1398)caagatggccagcatgga>caa	p.DGQHG462del	CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000543483.1_In_Frame_Del_p.DGQHG161del|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000367399.2_In_Frame_Del_p.DGQHG350del|CRB1_ENST00000538660.1_In_Frame_Del_p.DGQHG462del|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000535699.1_In_Frame_Del_p.DGQHG393del	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	462	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTCACTTCCAAGATGGCCAGCATGGATTCAGCTGC	0.484																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(1381-1398)caa>ca		crumbs homolog 1 (Drosophila)																																				SO:0001651	inframe_deletion	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390341_197390355delAGATGGCCAGCATGG		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1383_1397delAGATGGCCAGCATGG	1.37:g.197390341_197390355delAGATGGCCAGCATGG	ENSP00000356370:p.Asp462_Gly466del					CRB1_ENST00000367399.2_In_Frame_Del_p.QDGQHG349del|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_In_Frame_Del_p.QDGQHG461del|CRB1_ENST00000535699.1_In_Frame_Del_p.QDGQHG392del|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000543483.1_In_Frame_Del_p.QDGQHG160del	p.QDGQHG461del	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			6	1518_1532	+			461			EGF-like 11.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	In_Frame_Del	DEL	ENST00000367400.3	37	c.1383_1397delAGATGGCCAGCATGG	CCDS1390.1																																																																																				0.484	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		19	62						19	62	---	---	---	---
FSIP2	401024	broad.mit.edu	37	2	186670222	186670223	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:186670222_186670223insT	ENST00000424728.1	+	17	16189_16190	c.16189_16190insT	c.(16189-16191)cttfs	p.L5397fs	FSIP2_ENST00000343098.5_Frame_Shift_Ins_p.L5486fs			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5397										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GATTCAACCACTTTTTTCAGGA	0.381																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(16456-16458)tttfs		fibrous sheath interacting protein 2																																				SO:0001589	frameshift_variant	401024							g.chr2:186670222_186670223insT	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.16195dupT	2.37:g.186670228_186670228dupT	ENSP00000401306:p.Leu5397fs					FSIP2_ENST00000424728.1_Frame_Shift_Ins_p.F5397fs	p.F5486fs	NM_173651.2	NP_775922.2					17	16456_16457	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Frame_Shift_Ins	INS	ENST00000424728.1	37	c.16456_16457insT																																																																																					0.381	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		23	83						23	83	---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220164922	220164922	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:220164922delG	ENST00000295718.2	-	9	1461	c.1221delC	c.(1219-1221)cccfs	p.P407fs	PTPRN_ENST00000423636.2_Frame_Shift_Del_p.P317fs|PTPRN_ENST00000409251.3_Frame_Shift_Del_p.P407fs|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	407					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GTCCAGGCATGGGGGATGTGC	0.632																																						ENST00000295718.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1219-1221)ccfs		protein tyrosine phosphatase, receptor type, N							62.0	68.0	66.0					2																	220164922		2203	4300	6503	SO:0001589	frameshift_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220164922delG		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1221delC	2.37:g.220164922delG	ENSP00000295718:p.Pro407fs					PTPRN_ENST00000409251.3_Frame_Shift_Del_p.P407fs|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Frame_Shift_Del_p.P317fs	p.P407fs	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	9	1461	-		Renal(207;0.0474)	407					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Frame_Shift_Del	DEL	ENST00000295718.2	37	c.1221delC	CCDS2440.1																																																																																				0.632	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			58	29						58	29	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:178916938_178916940delGAA	ENST00000263967.3	+	2	482_484	c.325_327delGAA	c.(325-327)gaadel	p.E110del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	110					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E109del(3)|p.G106_R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGGCAACCGTGAAGAAAAGATCC	0.34		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		4	Deletion - In frame(4)	p.E109del(3)|p.G106_R108del(1)	endometrium(2)|large_intestine(1)|lung(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(325-327)del		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha																																				SO:0001651	inframe_deletion	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916938_178916940delGAA		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.325_327delGAA	3.37:g.178916941_178916943delGAA	ENSP00000263967:p.Glu110del	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E110del	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	482_484	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		110					Q14CW1|Q99762	In_Frame_Del	DEL	ENST00000263967.3	37	c.325_327delGAA	CCDS43171.1																																																																																				0.340	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			29	90						29	90	---	---	---	---
SETX	23064	broad.mit.edu	37	9	135203353	135203376	+	In_Frame_Del	DEL	CGTGAATTGGGAGTTGAAGTCCTT	CGTGAATTGGGAGTTGAAGTCCTT	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:135203353_135203376delCGTGAATTGGGAGTTGAAGTCCTT	ENST00000224140.5	-	10	3791_3814	c.3609_3632delAAGGACTTCAACTCCCAATTCACG	c.(3607-3633)agaaggacttcaactcccaattcacgt>agt	p.1203_1211RRTSTPNSR>S	SETX_ENST00000393220.1_In_Frame_Del_p.1203_1211RRTSTPNSR>S|SETX_ENST00000372169.2_In_Frame_Del_p.1203_1211RRTSTPNSR>S	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1203					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCTCTGAATACGTGAATTGGGAGTTGAAGTCCTTCTATCAATAC	0.402																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(3607-3633)agt>ag		senataxin																																				SO:0001651	inframe_deletion	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135203353_135203376delCGTGAATTGGGAGTTGAAGTCCTT	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.3609_3632delAAGGACTTCAACTCCCAATTCACG	9.37:g.135203353_135203376delCGTGAATTGGGAGTTGAAGTCCTT	ENSP00000224140:p.Arg1203_Arg1211delinsSer					SETX_ENST00000393220.1_In_Frame_Del_p.RRTSTPNSR1203del|SETX_ENST00000224140.5_In_Frame_Del_p.RRTSTPNSR1203del	p.RRTSTPNSR1203del			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	3791_3814	-		Myeloproliferative disorder(178;0.204)	1203					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	In_Frame_Del	DEL	ENST00000224140.5	37	c.3609_3632delAAGGACTTCAACTCCCAATTCACG	CCDS6947.1																																																																																				0.402	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		16	70						16	70	---	---	---	---
FGF23	8074	broad.mit.edu	37	12	4479740	4479740	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:4479740delC	ENST00000237837.1	-	3	670	c.525delG	c.(523-525)cggfs	p.R176fs		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	176			R -> Q (in ADHR; partially resistant to cleavage by furin). {ECO:0000269|PubMed:11062477}.		cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GGGTGTGCCGCCGTGGTATGG	0.672																																						ENST00000237837.1																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22						c.(523-525)cgfs		fibroblast growth factor 23							33.0	38.0	36.0					12																	4479740		2202	4299	6501	SO:0001589	frameshift_variant	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4479740delC	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.525delG	12.37:g.4479740delC	ENSP00000237837:p.Arg176fs						p.R176fs	NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		3	670	-			176		R -> Q (in ADHR; partially resistant to cleavage by furin).			Q4V758	Frame_Shift_Del	DEL	ENST00000237837.1	37	c.525delG	CCDS8526.1																																																																																				0.672	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			31	42						31	42	---	---	---	---
ITPRIPL2	162073	broad.mit.edu	37	16	19127024	19127026	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:19127024_19127026delTGC	ENST00000381440.3	+	1	1771_1773	c.1241_1243delTGC	c.(1240-1245)gtgctg>gtg	p.L416del	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	416						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CTGCTGGCAGTGCTGCTGCGCAA	0.655																																						ENST00000381440.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1240-1245)gtg>g		inositol 1,4,5-trisphosphate receptor interacting protein-like 2																																				SO:0001651	inframe_deletion	162073					integral to membrane		g.chr16:19127024_19127026delTGC		CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"""inositol 1,4,5-triphosphate receptor interacting protein-like 2"""				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.1241_1243delTGC	16.37:g.19127030_19127032delTGC	ENSP00000370849:p.Leu416del					CTD-2349B8.1_ENST00000564808.2_Intron	p.VL414del	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN			1	1771_1773	+			414						In_Frame_Del	DEL	ENST00000381440.3	37	c.1241_1243delTGC	CCDS32395.1																																																																																				0.655	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435827.3	NM_001034841		83	140						83	140	---	---	---	---
NANOS3	342977	broad.mit.edu	37	19	13988559	13988561	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:13988559_13988561delGAG	ENST00000397555.2	+	2	440_442	c.440_442delGAG	c.(439-444)cgagga>cga	p.G152del	MIR181D_ENST00000384853.1_RNA|NANOS3_ENST00000339133.5_In_Frame_Del_p.G171del|NANOS3_ENST00000591727.1_Intron|MIR181C_ENST00000384881.1_RNA	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	152					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G171delG(1)		breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGCCACCGCCGAGGAGGAGGAGG	0.645																																						ENST00000397555.2																			1	Deletion - In frame(1)	p.G171delG(1)	prostate(1)	breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7						c.(439-444)cga>c		nanos homolog 3 (Drosophila)				244,68,82,2948		50,1,2,141,16,0,35,6,68,1352						1.2	0.5		dbSNP_134	7	6,2,199,6931		1,0,0,4,0,0,2,8,183,3371	no	codingComplex	NANOS3	NM_001098622.2		51,1,2,145,16,0,37,14,251,4723	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		2.9,11.7893,5.7347				250,70,281,9879				SO:0001651	inframe_deletion	342977				anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	g.chr19:13988559_13988561delGAG	BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323		ENST00000397555.2:c.440_442delGAG	19.37:g.13988568_13988570delGAG	ENSP00000380687:p.Gly152del					NANOS3_ENST00000339133.5_In_Frame_Del_p.RG166del|NANOS3_ENST00000591161.1_5'UTR|NANOS3_ENST00000591727.1_Intron	p.RG147del	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		2	440_442	+			147					Q495E5	In_Frame_Del	DEL	ENST00000397555.2	37	c.440_442delGAG																																																																																					0.645	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_292819		3	4						3	4	---	---	---	---
HNRNPL	3191	broad.mit.edu	37	19	39330958	39330959	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:39330958_39330959insG	ENST00000221419.5	-	8	1376_1377	c.1010_1011insC	c.(1009-1011)ccafs	p.P337fs	HNRNPL_ENST00000600873.1_Frame_Shift_Ins_p.P204fs|AC104534.3_ENST00000594769.1_5'Flank	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	337	Pro-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CGTAGTGAGGTGGGGGGGGCCC	0.668																																						ENST00000221419.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1009-1011)cccfs		heterogeneous nuclear ribonucleoprotein L																																				SO:0001589	frameshift_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39330958_39330959insG	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1011dupC	19.37:g.39330966_39330966dupG	ENSP00000221419:p.Pro337fs					HNRNPL_ENST00000600873.1_Frame_Shift_Ins_p.P204fs	p.P337fs	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		8	1376_1377	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		337			Pro-rich.		A6ND69|A6NIT8|Q9H3P3	Frame_Shift_Ins	INS	ENST00000221419.5	37	c.1010_1011insC	CCDS33015.1																																																																																				0.668	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			10	21						10	21	---	---	---	---
DAZ2	57055	broad.mit.edu	37	Y	25375814	25375815	+	Splice_Site	DEL	CA	CA	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrY:25375814_25375815delCA	ENST00000382433.4	+	7	761_762	c.568_569delCA	c.(568-570)cag>g	p.Q190fs	DAZ2_ENST00000382434.3_Splice_Site_p.Q190fs|DAZ2_ENST00000382424.4_Splice_Site_p.Q190fs|DAZ2_ENST00000382449.1_Splice_Site_p.Q190fs|DAZ2_ENST00000449947.1_Splice_Site_p.Q190fs|DAZ2_ENST00000382294.2_Splice_Site_p.Q190fs|DAZ2_ENST00000400493.2_Splice_Site_p.Q190fs|DAZ2_ENST00000382431.4_Splice_Site_p.Q190fs|DAZ2_ENST00000382440.1_Splice_Site_p.Q190fs|DAZ2_ENST00000382306.2_Splice_Site_p.Q190fs			Q13117	DAZ2_HUMAN	deleted in azoospermia 2	190	DAZ-like 1.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										ATATAATTATCAGGTAATTGAA	0.356																																						ENST00000382440.1																			0											c.e7+1		deleted in azoospermia 2																																				SO:0001630	splice_region_variant	57055				cell differentiation|multicellular organismal development|single fertilization|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chrY:25375814_25375815delCA	AF248480	CCDS35485.1, CCDS48210.1, CCDS65375.1	Yq11	2013-02-12			ENSG00000205944	ENSG00000205944		"""RNA binding motif (RRM) containing"""	15964	protein-coding gene	gene with protein product		400026				10936047	Standard	NM_020363		Approved	pDP1678, MGC126442	uc022con.1	Q13117	OTTHUMG00000044060	ENST00000382433.4:c.570+1CA>-	Y.37:g.25375814_25375815delCA						DAZ2_ENST00000382449.1_Splice_Site_p.Q190_splice|DAZ2_ENST00000382294.2_Splice_Site_p.Q190_splice|DAZ2_ENST00000382434.3_Splice_Site_p.Q190_splice|DAZ2_ENST00000382306.2_Splice_Site_p.Q190_splice|DAZ2_ENST00000400493.2_Splice_Site_p.Q190_splice|DAZ2_ENST00000382424.4_Splice_Site_p.Q190_splice|DAZ2_ENST00000382431.4_Splice_Site_p.Q190_splice|DAZ2_ENST00000382433.4_Splice_Site_p.Q190_splice|DAZ2_ENST00000449947.1_Splice_Site_p.Q190_splice	p.Q190_splice			Q13117	DAZ2_HUMAN			7	834_835	+			190			DAZ-like 1.		Q2KHN6|Q96P41|Q9NR91	Splice_Site	DEL	ENST00000382433.4	37	c.570_splice																																																																																					0.356	DAZ2-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000102482.1	NM_020363	Frame_Shift_Del	2	4						2	4	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175362961	175362962	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:175362961_175362962insA	ENST00000367674.2	-	6	2018_2019	c.1310_1311insT	c.(1309-1311)cccfs	p.P437fs	TNR_ENST00000263525.2_Frame_Shift_Ins_p.P437fs			Q92752	TENR_HUMAN	tenascin R	437	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAAATGAGAAGGGCTCCCACTG	0.455																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(1309-1311)cttfs		tenascin R																																				SO:0001589	frameshift_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175362961_175362962insA	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1310_1311insT	1.37:g.175362961_175362962insA	ENSP00000356646:p.Pro437fs					TNR_ENST00000263525.2_Frame_Shift_Ins_p.L437fs	p.L437fs	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			6	2018_2019	-	Renal(580;0.146)		437			Fibronectin type-III 2.		C9J563|Q15568|Q5R3G0	Frame_Shift_Ins	INS	ENST00000367674.2	37	c.1310_1311insT	CCDS1318.1																																																																																				0.455	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		164	157						164	157	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197390341	197390355	+	In_Frame_Del	DEL	AGATGGCCAGCATGG	AGATGGCCAGCATGG	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:197390341_197390355delAGATGGCCAGCATGG	ENST00000367400.3	+	6	1518_1532	c.1383_1397delAGATGGCCAGCATGG	c.(1381-1398)caagatggccagcatgga>caa	p.DGQHG462del	CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000543483.1_In_Frame_Del_p.DGQHG161del|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000367399.2_In_Frame_Del_p.DGQHG350del|CRB1_ENST00000538660.1_In_Frame_Del_p.DGQHG462del|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000535699.1_In_Frame_Del_p.DGQHG393del	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	462	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTCACTTCCAAGATGGCCAGCATGGATTCAGCTGC	0.484																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(1381-1398)caa>ca		crumbs homolog 1 (Drosophila)																																				SO:0001651	inframe_deletion	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390341_197390355delAGATGGCCAGCATGG		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1383_1397delAGATGGCCAGCATGG	1.37:g.197390341_197390355delAGATGGCCAGCATGG	ENSP00000356370:p.Asp462_Gly466del					CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367399.2_In_Frame_Del_p.QDGQHG349del|CRB1_ENST00000538660.1_In_Frame_Del_p.QDGQHG461del|CRB1_ENST00000535699.1_In_Frame_Del_p.QDGQHG392del|CRB1_ENST00000543483.1_In_Frame_Del_p.QDGQHG160del|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000367397.1_5'UTR	p.QDGQHG461del	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			6	1518_1532	+			461			EGF-like 11.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	In_Frame_Del	DEL	ENST00000367400.3	37	c.1383_1397delAGATGGCCAGCATGG	CCDS1390.1																																																																																				0.484	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		19	62						19	62	---	---	---	---
FSIP2	401024	broad.mit.edu	37	2	186670222	186670223	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:186670222_186670223insT	ENST00000424728.1	+	17	16189_16190	c.16189_16190insT	c.(16189-16191)cttfs	p.L5397fs	FSIP2_ENST00000343098.5_Frame_Shift_Ins_p.L5486fs			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5397										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GATTCAACCACTTTTTTCAGGA	0.381																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(16456-16458)tttfs		fibrous sheath interacting protein 2																																				SO:0001589	frameshift_variant	401024							g.chr2:186670222_186670223insT	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.16195dupT	2.37:g.186670228_186670228dupT	ENSP00000401306:p.Leu5397fs					FSIP2_ENST00000424728.1_Frame_Shift_Ins_p.F5397fs	p.F5486fs	NM_173651.2	NP_775922.2					17	16456_16457	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Frame_Shift_Ins	INS	ENST00000424728.1	37	c.16456_16457insT																																																																																					0.381	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		23	83						23	83	---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220164922	220164922	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:220164922delG	ENST00000295718.2	-	9	1461	c.1221delC	c.(1219-1221)cccfs	p.P407fs	PTPRN_ENST00000423636.2_Frame_Shift_Del_p.P317fs|PTPRN_ENST00000409251.3_Frame_Shift_Del_p.P407fs|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	407					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GTCCAGGCATGGGGGATGTGC	0.632																																						ENST00000295718.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1219-1221)ccfs		protein tyrosine phosphatase, receptor type, N							62.0	68.0	66.0					2																	220164922		2203	4300	6503	SO:0001589	frameshift_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220164922delG		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1221delC	2.37:g.220164922delG	ENSP00000295718:p.Pro407fs					PTPRN_ENST00000409251.3_Frame_Shift_Del_p.P407fs|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Frame_Shift_Del_p.P317fs	p.P407fs	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	9	1461	-		Renal(207;0.0474)	407					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Frame_Shift_Del	DEL	ENST00000295718.2	37	c.1221delC	CCDS2440.1																																																																																				0.632	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			58	29						58	29	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr3:178916938_178916940delGAA	ENST00000263967.3	+	2	482_484	c.325_327delGAA	c.(325-327)gaadel	p.E110del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	110					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E109del(3)|p.G106_R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGGCAACCGTGAAGAAAAGATCC	0.34		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		4	Deletion - In frame(4)	p.E109del(3)|p.G106_R108del(1)	endometrium(2)|large_intestine(1)|lung(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(325-327)del		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha																																				SO:0001651	inframe_deletion	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916938_178916940delGAA		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.325_327delGAA	3.37:g.178916941_178916943delGAA	ENSP00000263967:p.Glu110del	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E110del	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	482_484	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		110					Q14CW1|Q99762	In_Frame_Del	DEL	ENST00000263967.3	37	c.325_327delGAA	CCDS43171.1																																																																																				0.340	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			29	90						29	90	---	---	---	---
SETX	23064	broad.mit.edu	37	9	135203353	135203376	+	In_Frame_Del	DEL	CGTGAATTGGGAGTTGAAGTCCTT	CGTGAATTGGGAGTTGAAGTCCTT	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr9:135203353_135203376delCGTGAATTGGGAGTTGAAGTCCTT	ENST00000224140.5	-	10	3791_3814	c.3609_3632delAAGGACTTCAACTCCCAATTCACG	c.(3607-3633)agaaggacttcaactcccaattcacgt>agt	p.1203_1211RRTSTPNSR>S	SETX_ENST00000393220.1_In_Frame_Del_p.1203_1211RRTSTPNSR>S|SETX_ENST00000372169.2_In_Frame_Del_p.1203_1211RRTSTPNSR>S	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1203					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCTCTGAATACGTGAATTGGGAGTTGAAGTCCTTCTATCAATAC	0.402																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(3607-3633)agt>ag		senataxin																																				SO:0001651	inframe_deletion	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135203353_135203376delCGTGAATTGGGAGTTGAAGTCCTT	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.3609_3632delAAGGACTTCAACTCCCAATTCACG	9.37:g.135203353_135203376delCGTGAATTGGGAGTTGAAGTCCTT	ENSP00000224140:p.Arg1203_Arg1211delinsSer					SETX_ENST00000224140.5_In_Frame_Del_p.RRTSTPNSR1203del|SETX_ENST00000393220.1_In_Frame_Del_p.RRTSTPNSR1203del	p.RRTSTPNSR1203del			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	3791_3814	-		Myeloproliferative disorder(178;0.204)	1203					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	In_Frame_Del	DEL	ENST00000224140.5	37	c.3609_3632delAAGGACTTCAACTCCCAATTCACG	CCDS6947.1																																																																																				0.402	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		16	70						16	70	---	---	---	---
FGF23	8074	broad.mit.edu	37	12	4479740	4479740	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr12:4479740delC	ENST00000237837.1	-	3	670	c.525delG	c.(523-525)cggfs	p.R176fs		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	176			R -> Q (in ADHR; partially resistant to cleavage by furin). {ECO:0000269|PubMed:11062477}.		cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GGGTGTGCCGCCGTGGTATGG	0.672																																						ENST00000237837.1																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22						c.(523-525)cgfs		fibroblast growth factor 23							33.0	38.0	36.0					12																	4479740		2202	4299	6501	SO:0001589	frameshift_variant	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4479740delC	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.525delG	12.37:g.4479740delC	ENSP00000237837:p.Arg176fs						p.R176fs	NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		3	670	-			176		R -> Q (in ADHR; partially resistant to cleavage by furin).			Q4V758	Frame_Shift_Del	DEL	ENST00000237837.1	37	c.525delG	CCDS8526.1																																																																																				0.672	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			31	42						31	42	---	---	---	---
ITPRIPL2	162073	broad.mit.edu	37	16	19127024	19127026	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr16:19127024_19127026delTGC	ENST00000381440.3	+	1	1771_1773	c.1241_1243delTGC	c.(1240-1245)gtgctg>gtg	p.L416del	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	416						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CTGCTGGCAGTGCTGCTGCGCAA	0.655																																						ENST00000381440.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1240-1245)gtg>g		inositol 1,4,5-trisphosphate receptor interacting protein-like 2																																				SO:0001651	inframe_deletion	162073					integral to membrane		g.chr16:19127024_19127026delTGC		CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"""inositol 1,4,5-triphosphate receptor interacting protein-like 2"""				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.1241_1243delTGC	16.37:g.19127030_19127032delTGC	ENSP00000370849:p.Leu416del					CTD-2349B8.1_ENST00000564808.2_Intron	p.VL414del	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN			1	1771_1773	+			414						In_Frame_Del	DEL	ENST00000381440.3	37	c.1241_1243delTGC	CCDS32395.1																																																																																				0.655	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435827.3	NM_001034841		83	140						83	140	---	---	---	---
NANOS3	342977	broad.mit.edu	37	19	13988559	13988561	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:13988559_13988561delGAG	ENST00000397555.2	+	2	440_442	c.440_442delGAG	c.(439-444)cgagga>cga	p.G152del	MIR181D_ENST00000384853.1_RNA|NANOS3_ENST00000339133.5_In_Frame_Del_p.G171del|NANOS3_ENST00000591727.1_Intron|MIR181C_ENST00000384881.1_RNA	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	152					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G171delG(1)		breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGCCACCGCCGAGGAGGAGGAGG	0.645																																						ENST00000397555.2																			1	Deletion - In frame(1)	p.G171delG(1)	prostate(1)	breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7						c.(439-444)cga>c		nanos homolog 3 (Drosophila)				244,68,82,2948		50,1,2,141,16,0,35,6,68,1352						1.2	0.5		dbSNP_134	7	6,2,199,6931		1,0,0,4,0,0,2,8,183,3371	no	codingComplex	NANOS3	NM_001098622.2		51,1,2,145,16,0,37,14,251,4723	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		2.9,11.7893,5.7347				250,70,281,9879				SO:0001651	inframe_deletion	342977				anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	g.chr19:13988559_13988561delGAG	BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323		ENST00000397555.2:c.440_442delGAG	19.37:g.13988568_13988570delGAG	ENSP00000380687:p.Gly152del					NANOS3_ENST00000591161.1_5'UTR|NANOS3_ENST00000591727.1_Intron|NANOS3_ENST00000339133.5_In_Frame_Del_p.RG166del	p.RG147del	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		2	440_442	+			147					Q495E5	In_Frame_Del	DEL	ENST00000397555.2	37	c.440_442delGAG																																																																																					0.645	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_292819		3	4						3	4	---	---	---	---
HNRNPL	3191	broad.mit.edu	37	19	39330958	39330959	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:39330958_39330959insG	ENST00000221419.5	-	8	1376_1377	c.1010_1011insC	c.(1009-1011)ccafs	p.P337fs	HNRNPL_ENST00000600873.1_Frame_Shift_Ins_p.P204fs|AC104534.3_ENST00000594769.1_5'Flank	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	337	Pro-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CGTAGTGAGGTGGGGGGGGCCC	0.668																																						ENST00000221419.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1009-1011)cccfs		heterogeneous nuclear ribonucleoprotein L																																				SO:0001589	frameshift_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39330958_39330959insG	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1011dupC	19.37:g.39330966_39330966dupG	ENSP00000221419:p.Pro337fs					HNRNPL_ENST00000600873.1_Frame_Shift_Ins_p.P204fs	p.P337fs	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		8	1376_1377	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		337			Pro-rich.		A6ND69|A6NIT8|Q9H3P3	Frame_Shift_Ins	INS	ENST00000221419.5	37	c.1010_1011insC	CCDS33015.1																																																																																				0.668	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			10	21						10	21	---	---	---	---
DAZ2	57055	broad.mit.edu	37	Y	25375814	25375815	+	Splice_Site	DEL	CA	CA	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chrY:25375814_25375815delCA	ENST00000382433.4	+	7	761_762	c.568_569delCA	c.(568-570)cag>g	p.Q190fs	DAZ2_ENST00000382434.3_Splice_Site_p.Q190fs|DAZ2_ENST00000382424.4_Splice_Site_p.Q190fs|DAZ2_ENST00000382449.1_Splice_Site_p.Q190fs|DAZ2_ENST00000449947.1_Splice_Site_p.Q190fs|DAZ2_ENST00000382294.2_Splice_Site_p.Q190fs|DAZ2_ENST00000400493.2_Splice_Site_p.Q190fs|DAZ2_ENST00000382431.4_Splice_Site_p.Q190fs|DAZ2_ENST00000382440.1_Splice_Site_p.Q190fs|DAZ2_ENST00000382306.2_Splice_Site_p.Q190fs			Q13117	DAZ2_HUMAN	deleted in azoospermia 2	190	DAZ-like 1.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										ATATAATTATCAGGTAATTGAA	0.356																																						ENST00000382440.1																			0											c.e7+1		deleted in azoospermia 2																																				SO:0001630	splice_region_variant	57055				cell differentiation|multicellular organismal development|single fertilization|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chrY:25375814_25375815delCA	AF248480	CCDS35485.1, CCDS48210.1, CCDS65375.1	Yq11	2013-02-12			ENSG00000205944	ENSG00000205944		"""RNA binding motif (RRM) containing"""	15964	protein-coding gene	gene with protein product		400026				10936047	Standard	NM_020363		Approved	pDP1678, MGC126442	uc022con.1	Q13117	OTTHUMG00000044060	ENST00000382433.4:c.570+1CA>-	Y.37:g.25375814_25375815delCA						DAZ2_ENST00000382449.1_Splice_Site_p.Q190_splice|DAZ2_ENST00000449947.1_Splice_Site_p.Q190_splice|DAZ2_ENST00000382434.3_Splice_Site_p.Q190_splice|DAZ2_ENST00000382294.2_Splice_Site_p.Q190_splice|DAZ2_ENST00000400493.2_Splice_Site_p.Q190_splice|DAZ2_ENST00000382306.2_Splice_Site_p.Q190_splice|DAZ2_ENST00000382424.4_Splice_Site_p.Q190_splice|DAZ2_ENST00000382431.4_Splice_Site_p.Q190_splice|DAZ2_ENST00000382433.4_Splice_Site_p.Q190_splice	p.Q190_splice			Q13117	DAZ2_HUMAN			7	834_835	+			190			DAZ-like 1.		Q2KHN6|Q96P41|Q9NR91	Splice_Site	DEL	ENST00000382433.4	37	c.570_splice																																																																																					0.356	DAZ2-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000102482.1	NM_020363	Frame_Shift_Del	2	4						2	4	---	---	---	---
