#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
GPR153	387509	broad.mit.edu	37	1	6311445	6311445	+	Missense_Mutation	SNP	C	C	T	rs139457263	byFrequency	TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:6311445C>T	ENST00000377893.2	-	4	1191	c.932G>A	c.(931-933)cGg>cAg	p.R311Q		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GCACTTCTCCCGGACAGCTTT	0.637													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18170	0.0		0.0	False		,,,				2504	0.0					uc001amp.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14						c.(931-933)cGg>cAg		Homo sapiens G protein-coupled receptor 153 (GPR153), mRNA.		C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	81.0	80.0	80.0		932	4.6	1.0	1	dbSNP_134	80	0,8600		0,0,4300	no	missense	GPR153	NM_207370.2	43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	311/610	6311445	2,13004	2203	4300	6503	SO:0001583	missense	387509					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:6311445C>T	AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.932G>A	1.37:g.6311445C>T	ENSP00000367125:p.Arg311Gln						p.R311Q	NM_207370	NP_997253	Q6NV75	GP153_HUMAN		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)	3	1192	-	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	311					Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	ENST00000377893.2	37	c.932G>A	CCDS64.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609638	0.87258	4.54E-4	0.0	ENSG00000158292	ENST00000377893	T	0.21932	1.98	5.47	4.55	0.56014	.	0.116828	0.64402	D	0.000006	T	0.11707	0.0285	N	0.08118	0	0.29855	N	0.828097	P	0.44946	0.846	B	0.38020	0.263	T	0.02617	-1.1133	10	0.72032	D	0.01	-16.7908	14.2784	0.66196	0.1502:0.8498:0.0:0.0	.	311	Q6NV75	GP153_HUMAN	Q	311	ENSP00000367125:R311Q	ENSP00000367125:R311Q	R	-	2	0	GPR153	6234032	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	1.285000	0.44548	0.655000	0.94253	CGG		0.637	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2		
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:7838212_7838214delTCA	ENST00000054666.6	+	4	381_383	c.266_268delTCA	c.(265-270)ttcatc>ttc	p.I94del	RP3-467L1.6_ENST00000602406.1_RNA|VAMP3_ENST00000470357.1_In_Frame_Del_p.I66del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	94					calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTTATCTTCATCATCATCAT	0.365																																						uc001aol.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6						c.(265-270)ttcatc>ttc		Homo sapiens vesicle-associated membrane protein 3 (cellubrevin) (VAMP3), mRNA.																																				SO:0001651	inframe_deletion	9341				cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding	g.chr1:7838212_7838214delTCA	BC003570	CCDS88.1	1p36.23	2013-02-13	2012-10-17		ENSG00000049245	ENSG00000049245		"""Vesicle-associated membrane proteins"""	12644	protein-coding gene	gene with protein product	"""cellubrevin"""	603657				9885218	Standard	NM_004781		Approved	CEB	uc001aol.3	Q15836	OTTHUMG00000001225	ENST00000054666.6:c.266_268delTCA	1.37:g.7838221_7838223delTCA	ENSP00000054666:p.Ile94del						p.I94del	NM_004781	NP_004772	Q15836	VAMP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	3	381_383	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	94					Q9BRV4	In_Frame_Del	DEL	ENST00000054666.6	37	c.266_268delTCA	CCDS88.1																																																																																				0.365	VAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003625.1	NM_004781	
DMBX1	127343	broad.mit.edu	37	1	46976764	46976764	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:46976764G>A	ENST00000360032.3	+	3	505	c.491G>A	c.(490-492)cGt>cAt	p.R164H	DMBX1_ENST00000371956.4_Missense_Mutation_p.R169H	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1									p.R169H(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CAGCCCCCACGTCTGCCTGGC	0.652																																						uc001cpx.3																			1	Substitution - Missense(1)	p.R169H(2)	endometrium(1)	endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(505-507)cGt>cAt		Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.							54.0	65.0	61.0					1																	46976764		2203	4300	6503	SO:0001583	missense	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46976764G>A	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.491G>A	1.37:g.46976764G>A	ENSP00000353132:p.Arg164His					DMBX1_uc001cpw.3_Missense_Mutation_p.R164H	p.R169H	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN			2	521	+	Acute lymphoblastic leukemia(166;0.155)		169						Missense_Mutation	SNP	ENST00000360032.3	37	c.506G>A	CCDS536.1	.	.	.	.	.	.	.	.	.	.	G	0.332	-0.955817	0.02267	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.93366	-3.14;-3.21	4.84	1.59	0.23543	.	1.221350	0.05308	N	0.524244	D	0.84737	0.5538	N	0.08118	0	0.09310	N	1	B;B	0.19331	0.021;0.035	B;B	0.06405	0.001;0.002	T	0.69971	-0.5000	10	0.14656	T	0.56	.	10.2854	0.43564	0.1572:0.1239:0.7189:0.0	.	169;164	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	H	169;164	ENSP00000361024:R169H;ENSP00000353132:R164H	ENSP00000353132:R164H	R	+	2	0	DMBX1	46749351	0.281000	0.24258	0.001000	0.08648	0.004000	0.04260	1.542000	0.36137	0.137000	0.18759	-1.094000	0.02160	CGT		0.652	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1		
TCHH	7062	broad.mit.edu	37	1	152081245	152081245	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:152081245C>T	ENST00000368804.1	-	2	4447	c.4448G>A	c.(4447-4449)cGt>cAt	p.R1483H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1483	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTTCTGTCACGCTCTTGGCG	0.557																																						uc009wne.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(4447-4449)cGt>cAt		Homo sapiens trichohyalin (TCHH), mRNA.							95.0	95.0	95.0					1																	152081245		1896	4105	6001	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081245C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4448G>A	1.37:g.152081245C>T	ENSP00000357794:p.Arg1483His					TCHH_uc001ezp.2_Missense_Mutation_p.R1483H	p.R1483H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4720	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1483			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4448G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	N	9.063	0.994920	0.19043	.	.	ENSG00000159450	ENST00000368804	T	0.05580	3.42	3.65	-0.382	0.12481	.	.	.	.	.	T	0.04092	0.0114	M	0.66939	2.045	0.09310	N	1	D	0.67145	0.996	P	0.51193	0.662	T	0.26121	-1.0112	9	0.54805	T	0.06	.	2.5587	0.04766	0.2223:0.3047:0.0:0.473	.	1483	Q07283	TRHY_HUMAN	H	1483	ENSP00000357794:R1483H	ENSP00000357794:R1483H	R	-	2	0	TCHH	150347869	0.003000	0.15002	0.002000	0.10522	0.060000	0.15804	-0.153000	0.10144	0.068000	0.16574	0.195000	0.17529	CGT		0.557	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
F5	2153	broad.mit.edu	37	1	169509611	169509611	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:169509611G>A	ENST00000367797.3	-	13	4918	c.4717C>T	c.(4717-4719)Cgc>Tgc	p.R1573C	F5_ENST00000367796.3_Missense_Mutation_p.R1578C	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1573	B.	Cleavage; by thrombin.			blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TTGTTGCTGCGGAGGTACCAT	0.398																																						uc001ggg.1																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(4717-4719)Cgc>Tgc		Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	Drotrecogin alfa(DB00055)						111.0	109.0	109.0					1																	169509611		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169509611G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4717C>T	1.37:g.169509611G>A	ENSP00000356771:p.Arg1573Cys						p.R1573C	NM_000130	NP_000121	P12259	FA5_HUMAN			12	4862	-	all_hematologic(923;0.208)		1573			B.	Cleavage; by thrombin.	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.4717C>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356431	0.82243	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.57752	0.38;0.38	5.55	5.55	0.83447	.	0.319926	0.35772	N	0.002996	T	0.74959	0.3785	M	0.88979	2.995	0.80722	D	1.000000	D	0.89917	1.0	D	0.79108	0.992	T	0.79713	-0.1688	9	0.87932	D	0	-15.4653	19.4923	0.95056	0.0:0.0:1.0:0.0	.	1573	P12259	FA5_HUMAN	C	1573;1578	ENSP00000356771:R1573C;ENSP00000356770:R1578C	ENSP00000356770:R1578C	R	-	1	0	F5	167776235	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.108000	0.71522	2.615000	0.88500	0.591000	0.81541	CGC		0.398	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
IPO9	55705	broad.mit.edu	37	1	201823997	201823997	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:201823997C>T	ENST00000361565.4	+	8	926	c.857C>T	c.(856-858)tCc>tTc	p.S286F		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	286					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ATGGTGTCCTCCATGCAGCAG	0.403																																						uc001gwz.3																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(856-858)tCc>tTc		Homo sapiens importin 9 (IPO9), mRNA.							145.0	141.0	142.0					1																	201823997		2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201823997C>T	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.857C>T	1.37:g.201823997C>T	ENSP00000354742:p.Ser286Phe						p.S286F	NM_018085	NP_060555	Q96P70	IPO9_HUMAN			7	907	+			286					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.857C>T	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828552	0.32329	.	.	ENSG00000198700	ENST00000361565	T	0.65178	-0.14	5.04	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.32675	0.0837	N	0.01352	-0.895	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.31280	-0.9949	10	0.11182	T	0.66	-8.129	16.2171	0.82237	0.0:1.0:0.0:0.0	.	286	Q96P70	IPO9_HUMAN	F	286	ENSP00000354742:S286F	ENSP00000354742:S286F	S	+	2	0	IPO9	200090620	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.356000	0.79445	2.491000	0.84063	0.563000	0.77884	TCC		0.403	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085	
ADARB2	105	broad.mit.edu	37	10	1284215	1284215	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr10:1284215G>A	ENST00000381312.1	-	5	1665	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M	ADARB2_ENST00000469464.1_5'Flank	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	447	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CTCCAGCTGCGTGTAGAGGAA	0.701																																						uc009xhq.3																			0		p.T447A(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1339-1341)aCg>aTg		Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.							24.0	24.0	24.0					10																	1284215		2199	4294	6493	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1284215G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1340C>T	10.37:g.1284215G>A	ENSP00000370713:p.Thr447Met						p.T447M	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	4	1666	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	447			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.1340C>T	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444837	0.83993	.	.	ENSG00000185736	ENST00000381312	D	0.93763	-3.28	5.64	5.64	0.86602	Adenosine deaminase/editase (3);	0.305278	0.37577	N	0.002025	D	0.90452	0.7010	L	0.41492	1.28	0.80722	D	1	B	0.33288	0.406	B	0.28385	0.089	D	0.89585	0.3823	10	0.66056	D	0.02	-9.3436	19.6902	0.95998	0.0:0.0:1.0:0.0	.	447	Q9NS39	RED2_HUMAN	M	447	ENSP00000370713:T447M	ENSP00000370713:T447M	T	-	2	0	ADARB2	1274215	0.995000	0.38212	0.085000	0.20634	0.712000	0.41017	6.460000	0.73518	2.656000	0.90262	0.407000	0.27541	ACG		0.701	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702	
PFKFB3	5209	broad.mit.edu	37	10	6265943	6265943	+	Silent	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr10:6265943C>T	ENST00000379775.4	+	12	1566	c.1236C>T	c.(1234-1236)tgC>tgT	p.C412C	PFKFB3_ENST00000379789.4_Silent_p.C392C|PFKFB3_ENST00000379785.1_Silent_p.C412C|PFKFB3_ENST00000317350.4_Silent_p.C412C|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000360521.2_Silent_p.C412C|PFKFB3_ENST00000379782.3_Silent_p.C412C|PFKFB3_ENST00000540253.1_Silent_p.C426C	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	412	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)	p.C412C(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						ACCTGAAATGCCCTCTTCACA	0.547																																						uc001ije.3																			2	Substitution - coding silent(2)	p.C412C(3)	kidney(2)	central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						c.(1234-1236)tgC>tgT		Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1, mRNA.							174.0	154.0	161.0					10																	6265943		2203	4300	6503	SO:0001819	synonymous_variant	5209				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chr10:6265943C>T		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.1236C>T	10.37:g.6265943C>T						PFKFB3_uc001ijd.3_Silent_p.C392C|PFKFB3_uc009xii.3_Non-coding_Transcript|PFKFB3_uc010qaw.2_Silent_p.C426C|PFKFB3_uc001ijf.3_Silent_p.C412C|PFKFB3_uc001ijg.3_5'Flank|PFKFB3_uc009xij.3_5'Flank|PFKFB3_uc009xik.3_5'Flank|PFKFB3_uc009xil.3_5'Flank	p.C412C	NM_004566	NP_004557	Q16875	F263_HUMAN			11	1620	+			412			Fructose-2,6-bisphosphatase.		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Silent	SNP	ENST00000379775.4	37	c.1236C>T	CCDS7078.1	.	.	.	.	.	.	.	.	.	.	C	9.918	1.211409	0.22289	.	.	ENSG00000170525	ENST00000450232	.	.	.	5.1	-0.583	0.11706	.	.	.	.	.	T	0.53690	0.1812	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46005	-0.9222	4	.	.	.	-7.0047	7.8366	0.29374	0.0:0.4327:0.1101:0.4572	.	.	.	.	S	93	.	.	P	+	1	0	PFKFB3	6305949	0.901000	0.30685	0.970000	0.41538	0.887000	0.51463	-0.050000	0.11904	-0.017000	0.14103	0.655000	0.94253	CCC		0.547	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1		
PTEN	5728	broad.mit.edu	37	10	89711993	89711993	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr10:89711993C>T	ENST00000371953.3	+	6	1968	c.611C>T	c.(610-612)cCa>cTa	p.P204L	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	204	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.P204fs*17(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAAACTATTCCAATGTTCAGT	0.358		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		53	Whole gene deletion(37)|Deletion - Frameshift(11)|Unknown(4)|Deletion - In frame(1)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.P204T(2)|p.Y27fs*1(2)|p.P204fs*17(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.I203fs*39(1)|p.G165_*404del(1)|p.P204S(1)|p.I203fs*18(1)	prostate(16)|central_nervous_system(14)|skin(8)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(610-612)cCa>cTa		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							153.0	151.0	152.0					10																	89711993		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711993C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.611C>T	10.37:g.89711993C>T	ENSP00000361021:p.Pro204Leu	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.P204L	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1643	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	204			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.611C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159829	0.94727	.	.	ENSG00000171862	ENST00000371953	D	0.93604	-3.25	5.85	5.85	0.93711	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.049396	0.85682	D	0.000000	D	0.96343	0.8807	M	0.78456	2.415	0.80722	D	1	D	0.63880	0.993	P	0.61070	0.883	D	0.95539	0.8610	9	.	.	.	-1.0436	20.1698	0.98157	0.0:1.0:0.0:0.0	.	204	P60484	PTEN_HUMAN	L	204	ENSP00000361021:P204L	.	P	+	2	0	PTEN	89701973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.406000	0.80017	2.777000	0.95525	0.585000	0.79938	CCA		0.358	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
DCLRE1A	9937	broad.mit.edu	37	10	115610208	115610208	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr10:115610208T>C	ENST00000361384.2	-	2	1573	c.656A>G	c.(655-657)cAa>cGa	p.Q219R	DCLRE1A_ENST00000476112.1_5'Flank|DCLRE1A_ENST00000369305.1_Missense_Mutation_p.Q219R	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	219					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GTTATCAGTTTGGTTCTGATA	0.433								Other identified genes with known or suspected DNA repair function																														uc001law.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(655-657)cAa>cGa	Other identified genes with known or suspected DNA repair function	Homo sapiens DNA cross-link repair 1A (DCLRE1A), mRNA.							65.0	59.0	61.0					10																	115610208		2203	4300	6503	SO:0001583	missense	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115610208T>C		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.656A>G	10.37:g.115610208T>C	ENSP00000355185:p.Gln219Arg						p.Q219R	NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	1	1574	-			219					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	c.656A>G	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.487790	0.26686	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	D;D	0.94723	-3.5;-3.5	5.57	4.44	0.53790	.	0.411178	0.25906	N	0.027523	D	0.94192	0.8136	M	0.62723	1.935	0.21256	N	0.999743	D	0.71674	0.998	P	0.59115	0.852	D	0.85887	0.1426	10	0.15066	T	0.55	-6.7935	6.0442	0.19750	0.0:0.0858:0.1785:0.7357	.	219	Q6PJP8	DCR1A_HUMAN	R	219	ENSP00000355185:Q219R;ENSP00000358311:Q219R	ENSP00000355185:Q219R	Q	-	2	0	DCLRE1A	115600198	0.194000	0.23325	0.225000	0.23894	0.009000	0.06853	0.320000	0.19540	0.959000	0.37980	0.455000	0.32223	CAA		0.433	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881	
METTL12	751071	broad.mit.edu	37	11	62434124	62434124	+	Silent	SNP	T	T	C	rs376560159		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr11:62434124T>C	ENST00000532971.1	+	3	581	c.324T>C	c.(322-324)ttT>ttC	p.F108F	SNORA57_ENST00000383870.1_RNA|C11orf48_ENST00000532208.1_Intron|METTL12_ENST00000398922.2_3'UTR|RP11-831H9.11_ENST00000528405.1_5'Flank|C11orf48_ENST00000524958.1_5'Flank|C11orf48_ENST00000354588.3_Intron|C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000525675.1_5'Flank	NM_001043229.1	NP_001036694.1	A8MUP2	MET12_HUMAN	methyltransferase like 12	108						mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						GGGTGGACTTTTCTCCTGTGG	0.592																																						uc001nug.1																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						c.(322-324)ttT>ttC		Homo sapiens methyltransferase like 12 (METTL12), nuclear gene encoding mitochondrial protein, mRNA.							52.0	57.0	55.0					11																	62434124		1947	4155	6102	SO:0001819	synonymous_variant	751071					mitochondrion	methyltransferase activity	g.chr11:62434124T>C	BC041359	CCDS41657.1	11q12.3	2013-09-30			ENSG00000214756	ENSG00000214756			33113	protein-coding gene	gene with protein product							Standard	NM_001043229		Approved	U99HG	uc001nuh.3	A8MUP2	OTTHUMG00000167545	ENST00000532971.1:c.324T>C	11.37:g.62434124T>C						C11orf48_uc001nuf.3_Intron|METTL12_uc001nuh.3_Missense_Mutation_p.F150S|METTL12_uc010rmc.1_Non-coding_Transcript	p.F108F	NM_001043229	NP_001036694	A8MUP2	MTL12_HUMAN			2	583	+			108					B7Z4C1	Silent	SNP	ENST00000532971.1	37	c.324T>C	CCDS41657.1																																																																																				0.592	METTL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394990.1	NM_001043229	
AICDA	57379	broad.mit.edu	37	12	8758006	8758006	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr12:8758006C>T	ENST00000229335.6	-	3	335	c.232G>A	c.(232-234)Gtc>Atc	p.V78I	AICDA_ENST00000537228.1_Missense_Mutation_p.V78I	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	78					B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					AACCAGGTGACGCGGTAGCAG	0.617																																					GBM(62;896 1067 5527 26594 30137)	uc001qur.2																			0		p.R77R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16						c.(232-234)Gtc>Atc		Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.							48.0	54.0	52.0					12																	8758006		2125	4245	6370	SO:0001583	missense	57379				B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	g.chr12:8758006C>T	AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.232G>A	12.37:g.8758006C>T	ENSP00000229335:p.Val78Ile					AICDA_uc001qup.1_Missense_Mutation_p.V73I|AICDA_uc001quq.1_Missense_Mutation_p.V73I|AICDA_uc009zgd.1_Intron	p.V78I	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN			2	311	-	Lung SC(5;0.184)		78					Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	c.232G>A	CCDS41747.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722388	0.48728	.	.	ENSG00000111732	ENST00000229335;ENST00000537228	T;T	0.57907	0.37;0.37	5.43	5.43	0.79202	APOBEC-like, N-terminal (1);APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);	0.170536	0.52532	D	0.000074	T	0.34745	0.0908	N	0.13198	0.31	0.48452	D	0.999658	B;B;B	0.13594	0.008;0.008;0.008	B;B;B	0.09377	0.004;0.004;0.004	T	0.13361	-1.0512	10	0.30854	T	0.27	-35.0235	12.2559	0.54623	0.0:0.9178:0.0:0.0822	.	78;78;78	Q9GZX7;Q6QJ80;Q6QJ81	AICDA_HUMAN;.;.	I	78	ENSP00000229335:V78I;ENSP00000445691:V78I	ENSP00000229335:V78I	V	-	1	0	AICDA	8649273	0.991000	0.36638	0.960000	0.40013	0.985000	0.73830	2.806000	0.47947	2.545000	0.85829	0.462000	0.41574	GTC		0.617	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661	
AGAP2-AS1	100130776	broad.mit.edu	37	12	58120988	58120988	+	Silent	SNP	G	G	A	rs145154021		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr12:58120988G>A	ENST00000542466.2	+	2	349	c.213G>A	c.(211-213)gcG>gcA	p.A71A	RP11-571M6.8_ENST00000548410.2_RNA|AGAP2_ENST00000257897.3_Silent_p.R679R|AGAP2_ENST00000547588.1_Silent_p.R1035R					AGAP2 antisense RNA 1																		CGTACTTGGCGCGAATCCACG	0.677											OREG0021951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001spq.3																			0				breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(3103-3105)cgC>cgT		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.							17.0	20.0	19.0					12																	58120988		2195	4280	6475	SO:0001819	synonymous_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58120988G>A	BC039697, BC069024		12q14.1	2013-05-30			ENSG00000255737	ENSG00000255737		"""Long non-coding RNAs"""	48633	non-coding RNA	RNA, long non-coding							Standard	NR_027032		Approved				OTTHUMG00000170286	ENST00000542466.2:c.213G>A	12.37:g.58120988G>A			OREG0021951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1028	AGAP2_uc001spp.3_Silent_p.R1034R|AGAP2_uc001spr.3_Silent_p.R679R|LOC100130776_uc001sps.4_Silent_p.A71A	p.R1035R	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN			17	3105	-			1035			Arf-GAP.			Silent	SNP	ENST00000542466.2	37	c.3105C>T		.	.	.	.	.	.	.	.	.	.	g	9.444	1.088913	0.20390	.	.	ENSG00000135439	ENST00000328568	T	0.50277	0.75	4.99	-1.43	0.08884	.	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38929	-0.9638	7	0.87932	D	0	.	0.5507	0.00662	0.29:0.2087:0.307:0.1943	.	.	.	.	C	879	ENSP00000328160:R879C	ENSP00000328160:R879C	R	-	1	0	AGAP2	56407255	0.000000	0.05858	0.993000	0.49108	0.992000	0.81027	-2.380000	0.01066	-0.228000	0.09869	-0.127000	0.14921	CGC		0.677	AGAP2-AS1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000408368.1		
USP15	9958	broad.mit.edu	37	12	62785633	62785634	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr12:62785633_62785634insA	ENST00000280377.5	+	17	2329_2330	c.2271_2272insA	c.(2272-2274)aaafs	p.K758fs	USP15_ENST00000393654.3_Frame_Shift_Ins_p.K733fs|USP15_ENST00000353364.3_Frame_Shift_Ins_p.K729fs	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	758	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ATCCTGATTTGAAAAAAAGATA	0.277																																					Melanoma(181;615 2041 39364 49691 50001)	uc001src.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(2269-2274)ttgaaafs		Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62785633_62785634insA	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2278dupA	12.37:g.62785640_62785640dupA	ENSP00000280377:p.Lys758fs					USP15_uc001srb.2_Frame_Shift_Ins_p.L728fs	p.L757fs	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	16	2346_2347	+			757					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Frame_Shift_Ins	INS	ENST00000280377.5	37	c.2271_2272insA	CCDS58251.1																																																																																				0.277	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313	
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																						uc010vbl.1																			0											c.(106-108)Ctg>Ttg		Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA.																																						730092							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A						LOC23117_uc021tel.1_Intron	p.L36L							6	603	-								A8K6T4|B3KWX9|O75704	Silent	SNP	ENST00000546471.1	37	c.106C>T																																																																																					0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370	
ZFHX3	463	broad.mit.edu	37	16	72832031	72832031	+	Missense_Mutation	SNP	G	G	A	rs144091993	byFrequency	TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr16:72832031G>A	ENST00000268489.5	-	9	5222	c.4550C>T	c.(4549-4551)tCg>tTg	p.S1517L	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S603L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1517					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|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)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCTGAGCCCGAGTCTTCTTG	0.483													G|||	10	0.00199681	0.003	0.0	5008	,	,		20571	0.0		0.0	False		,,,				2504	0.0061					uc002fck.3																			0		p.S1517S(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(4549-4551)tCg>tTg		Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.		G	LEU/SER,LEU/SER	1,4395	2.1+/-5.4	0,1,2197	85.0	88.0	87.0		1808,4550	5.8	1.0	16	dbSNP_134	87	3,8597	2.2+/-6.3	0,3,4297	yes	missense,missense	ZFHX3	NM_001164766.1,NM_006885.3	145,145	0,4,6494	AA,AG,GG		0.0349,0.0227,0.0308	probably-damaging,probably-damaging	603/2790,1517/3704	72832031	4,12992	2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72832031G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.4550C>T	16.37:g.72832031G>A	ENSP00000268489:p.Ser1517Leu					ZFHX3_uc002fcl.3_Missense_Mutation_p.S603L	p.S1517L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			8	5223	-		Ovarian(137;0.13)	1517					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.4550C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824658	0.50739	2.27E-4	3.49E-4	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73681	-0.77;-0.73	5.78	5.78	0.91487	.	0.000000	0.42548	D	0.000696	T	0.63355	0.2504	L	0.36672	1.1	0.80722	D	1	B	0.30741	0.293	B	0.18871	0.023	T	0.61515	-0.7047	10	0.07644	T	0.81	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	1517	Q15911	ZFHX3_HUMAN	L	1517;603	ENSP00000268489:S1517L;ENSP00000438926:S603L	ENSP00000268489:S1517L	S	-	2	0	ZFHX3	71389532	1.000000	0.71417	0.982000	0.44146	0.990000	0.78478	4.751000	0.62169	2.894000	0.99253	0.655000	0.94253	TCG		0.483	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885	
GEMIN4	50628	broad.mit.edu	37	17	649261	649261	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr17:649261G>T	ENST00000319004.5	-	2	2140	c.2022C>A	c.(2020-2022)ttC>ttA	p.F674L	GEMIN4_ENST00000576778.1_Missense_Mutation_p.F663L	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	674					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GAGTCTGGATGAAGATCCTCA	0.537																																						uc002frs.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(2020-2022)ttC>ttA		Homo sapiens gem (nuclear organelle) associated protein 4 (GEMIN4), mRNA.							39.0	42.0	41.0					17																	649261		1975	4150	6125	SO:0001583	missense	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:649261G>T	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.2022C>A	17.37:g.649261G>T	ENSP00000321706:p.Phe674Leu						p.F674L	NM_015721	NP_056536	P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	2141	-		Myeloproliferative disorder(207;0.204)	674					Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	c.2022C>A	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	G	1.315	-0.601147	0.03744	.	.	ENSG00000179409	ENST00000319004	T	0.02787	4.16	5.57	3.56	0.40772	.	0.062472	0.64402	D	0.000003	T	0.01661	0.0053	N	0.13043	0.29	0.58432	D	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.38415	-0.9662	10	0.02654	T	1	-11.7768	9.1656	0.37050	0.2245:0.0:0.7755:0.0	.	674	P57678	GEMI4_HUMAN	L	674	ENSP00000321706:F674L	ENSP00000321706:F674L	F	-	3	2	GEMIN4	596011	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	3.042000	0.49815	1.354000	0.45846	0.655000	0.94253	TTC		0.537	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721	
DNAH2	146754	broad.mit.edu	37	17	7702526	7702526	+	Missense_Mutation	SNP	G	G	A	rs147918283		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr17:7702526G>A	ENST00000572933.1	+	56	10125	c.8665G>A	c.(8665-8667)Gtg>Atg	p.V2889M	DNAH2_ENST00000389173.2_Missense_Mutation_p.V2889M			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2889	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTGCACATCGTGCTCTGCCT	0.597																																						uc002giu.1																			0		p.I2888I(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(8665-8667)Gtg>Atg		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.		G	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	107.0	86.0	93.0		8665	4.4	1.0	17	dbSNP_134	93	0,8600		0,0,4300	no	missense	DNAH2	NM_020877.2	21	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	2889/4428	7702526	2,13004	2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7702526G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8665G>A	17.37:g.7702526G>A	ENSP00000458355:p.Val2889Met						p.V2889M	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			54	8679	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2889			AAA 4 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.8665G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622929	0.87460	4.54E-4	0.0	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.51574	0.7	5.48	4.38	0.52667	Dynein heavy chain, P-loop containing D4 domain (1);	0.149366	0.43747	D	0.000535	T	0.65048	0.2654	M	0.88979	2.995	0.80722	D	1	P	0.47191	0.891	P	0.52909	0.713	T	0.70722	-0.4794	10	0.87932	D	0	.	10.9592	0.47374	0.1145:0.0:0.8855:0.0	.	2889	Q9P225	DYH2_HUMAN	M	2889	ENSP00000373825:V2889M	ENSP00000353818:V2889M	V	+	1	0	DNAH2	7643251	0.999000	0.42202	1.000000	0.80357	0.903000	0.53119	2.754000	0.47532	1.063000	0.40649	0.561000	0.74099	GTG		0.597	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
WNK4	65266	broad.mit.edu	37	17	40945618	40945618	+	Silent	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr17:40945618C>T	ENST00000246914.5	+	12	2187	c.2166C>T	c.(2164-2166)aaC>aaT	p.N722N		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	722					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGGTATATAACGAGTTCATTC	0.532																																					Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.3																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(2164-2166)aaC>aaT		Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.							91.0	69.0	76.0					17																	40945618		2203	4300	6503	SO:0001819	synonymous_variant	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40945618C>T	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2166C>T	17.37:g.40945618C>T						WNK4_uc010wgx.2_Silent_p.N386N|WNK4_uc002ibk.1_Silent_p.N494N|WNK4_uc010wgy.1_Silent_p.N66N	p.N722N	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	11	2234	+		Breast(137;0.000143)	722					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Silent	SNP	ENST00000246914.5	37	c.2166C>T	CCDS11439.1																																																																																				0.532	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1		
TUBB4A	10382	broad.mit.edu	37	19	6495886	6495886	+	Silent	SNP	G	G	A	rs199666595		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr19:6495886G>A	ENST00000264071.2	-	4	995	c.624C>T	c.(622-624)taC>taT	p.Y208Y	TUBB4A_ENST00000540257.1_Silent_p.Y208Y|CTD-2396E7.10_ENST00000596027.1_RNA|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	208					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										AACAGATGTCGTAGAGTGCCT	0.612																																						uc002mfg.1																			0											c.(622-624)taC>taT		Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.							244.0	169.0	194.0					19																	6495886		2203	4300	6503	SO:0001819	synonymous_variant	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495886G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.624C>T	19.37:g.6495886G>A						TUBB4A_uc002mff.1_Silent_p.Y136Y|JA429441_uc021unq.1_5'Flank	p.Y208Y	NM_006087	NP_006078	P04350	TBB4_HUMAN			3	731	-			208					B3KQP4|Q969E5	Silent	SNP	ENST00000264071.2	37	c.624C>T	CCDS12168.1																																																																																				0.612	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087	
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-	rs532006952		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr19:17160706_17160707delGA	ENST00000253669.5	-	11	1399_1400	c.1209_1210delTC	c.(1207-1212)tctcgtfs	p.R404fs	HAUS8_ENST00000593360.1_Frame_Shift_Del_p.R343fs|CTD-2528A14.3_ENST00000598893.1_RNA|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.R403fs			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	404					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CTCCCTGAACGAGAGAGAGAGG	0.495																																						uc002nfe.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						c.(1207-1212)tctcgtfs		Homo sapiens HAUS augmin-like complex, subunit 8 (HAUS8), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	93323				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr19:17160706_17160707delGA	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.1209_1210delTC	19.37:g.17160714_17160715delGA	ENSP00000253669:p.Arg404fs					HAUS8_uc002nff.3_Frame_Shift_Del_p.S402fs	p.S403fs	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN			10	1320_1321	-			403					B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Frame_Shift_Del	DEL	ENST00000253669.5	37	c.1209_1210delTC	CCDS32948.1																																																																																				0.495	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699	
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																						uc002qqo.2																			2	Substitution - coding silent(2)	p.S332S(4)	kidney(2)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(994-996)tcG>tcC		Homo sapiens zinc finger protein 814 (ZNF814), mRNA.							25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385762C>G		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G						ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	p.S332S	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			2	1268	-			332					A6NF35	Silent	SNP	ENST00000435989.2	37	c.996G>C	CCDS46212.1																																																																																				0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
ABCG5	64240	broad.mit.edu	37	2	44065792	44065792	+	Silent	SNP	G	G	A	rs72542428	byFrequency	TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:44065792G>A	ENST00000260645.1	-	1	166	c.27C>T	c.(25-27)ccC>ccT	p.P9P	ABCG5_ENST00000405322.1_5'UTR|ABCG5_ENST00000543989.1_5'UTR|ABCG8_ENST00000272286.2_5'Flank	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	9					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TGGACCCTCCGGGGGTCAAAG	0.637													G|||	11	0.00219649	0.0	0.0014	5008	,	,		16365	0.0089		0.0	False		,,,				2504	0.001					uc002rtn.3																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(25-27)ccC>ccT		Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.							18.0	22.0	21.0					2																	44065792		2202	4300	6502	SO:0001819	synonymous_variant	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44065792G>A	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.27C>T	2.37:g.44065792G>A						ABCG5_uc002rto.3_5'UTR|ABCG5_uc002rtp.3_5'UTR|ABCG8_uc002rtq.3_5'Flank|ABCG8_uc010yoa.2_5'Flank	p.P9P	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN			0	167	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	9					Q2T9G2|Q96QZ2|Q96QZ3	Silent	SNP	ENST00000260645.1	37	c.27C>T	CCDS1814.1																																																																																				0.637	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436	
SPTBN1	6711	broad.mit.edu	37	2	54756736	54756736	+	Intron	SNP	T	T	C			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:54756736T>C	ENST00000356805.4	+	2	429				AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1						actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACCACTGAGTTTGCCATGAAG	0.483																																						uc010yot.1																			0											c.(253-255)tTt>tCt		Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA.																																				SO:0001627	intron_variant	56969							g.chr2:54756736T>C		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.148+3033T>C	2.37:g.54756736T>C						SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron	p.F85S							0	378	+								B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.254T>C	CCDS33198.1																																																																																				0.483	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		
SPTBN1	6711	broad.mit.edu	37	2	54856719	54856719	+	Silent	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:54856719G>A	ENST00000356805.4	+	14	2729	c.2448G>A	c.(2446-2448)gaG>gaA	p.E816E	SPTBN1_ENST00000333896.5_Silent_p.E803E	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	816					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCATGCCGAGTCTCCAGACG	0.627																																						uc002rxu.3																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(2446-2448)gaG>gaA		Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.							55.0	55.0	55.0					2																	54856719		2203	4300	6503	SO:0001819	synonymous_variant	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54856719G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2448G>A	2.37:g.54856719G>A						SPTBN1_uc002rxv.1_Silent_p.E816E|SPTBN1_uc002rxx.3_Silent_p.E803E	p.E816E	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		13	2697	+			816					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.2448G>A	CCDS33198.1																																																																																				0.627	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						uc002ths.2																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	central_nervous_system(1)	1						c.(5278-5280)Cct>Gct		Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	84220				intracellular transport	cytoplasm	binding	g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD5_uc010fkk.2_Missense_Mutation_p.P1620A	p.P1760A	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN			22	5470	-			1760					Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279	
GTDC1	79712	broad.mit.edu	37	2	144899603	144899603	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:144899603C>T	ENST00000392869.2	-	5	519	c.367G>A	c.(367-369)Gta>Ata	p.V123I	GTDC1_ENST00000344850.4_Missense_Mutation_p.V123I|GTDC1_ENST00000392867.3_Missense_Mutation_p.V123I|GTDC1_ENST00000241391.5_Missense_Mutation_p.V123I|GTDC1_ENST00000409298.1_Missense_Mutation_p.V123I|GTDC1_ENST00000463875.2_5'UTR|GTDC1_ENST00000542155.1_Missense_Mutation_p.V123I|GTDC1_ENST00000409214.1_Missense_Mutation_p.V123I	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	123					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		GAGTTGAATACAACCACATCA	0.383																																						uc002tvp.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25						c.(367-369)Gta>Ata		Homo sapiens glycosyltransferase-like domain containing 1 (GTDC1), transcript variant 1, mRNA.							45.0	47.0	46.0					2																	144899603		2203	4299	6502	SO:0001583	missense	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144899603C>T	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.367G>A	2.37:g.144899603C>T	ENSP00000376608:p.Val123Ile					GTDC1_uc002tvo.3_Missense_Mutation_p.V123I|GTDC1_uc021vqf.1_Missense_Mutation_p.V123I|GTDC1_uc010fnn.3_Missense_Mutation_p.V123I|GTDC1_uc002tvs.3_Missense_Mutation_p.V91I|GTDC1_uc021vqg.1_Missense_Mutation_p.V123I|GTDC1_uc002tvr.3_Missense_Mutation_p.V123I|GTDC1_uc010fno.3_5'UTR|GTDC1_uc002tvt.2_Missense_Mutation_p.V123I	p.V123I	NM_001006636	NP_001158101	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	5	646	-			123					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	c.367G>A	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971965	0.92919	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000409298;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000437114	T;T;T;T;T;T;T;T	0.76316	0.86;0.86;0.86;-1.01;0.86;0.86;0.86;0.86	6.01	6.01	0.97437	Glycosyltransferase family 1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86003	0.5829	L	0.51914	1.62	0.80722	D	1	D;P;P;D;P	0.76494	0.999;0.849;0.479;0.999;0.947	D;B;P;D;P	0.85130	0.994;0.425;0.462;0.997;0.58	T	0.82961	-0.0197	10	0.36615	T	0.2	-12.055	20.5141	0.99211	0.0:1.0:0.0:0.0	.	123;123;123;123;123	G1UFN1;Q4AE62-2;B8ZZ45;Q4AE62;Q4AE62-3	.;.;.;GTDC1_HUMAN;.	I	123	ENSP00000376608:V123I;ENSP00000386581:V123I;ENSP00000376606:V123I;ENSP00000386691:V123I;ENSP00000438323:V123I;ENSP00000241391:V123I;ENSP00000339750:V123I;ENSP00000403869:V123I	ENSP00000241391:V123I	V	-	1	0	GTDC1	144616073	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.703000	0.84585	2.850000	0.98022	0.655000	0.94253	GTA		0.383	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659	
GALNT3	2591	broad.mit.edu	37	2	166627133	166627133	+	Silent	SNP	T	T	C			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:166627133T>C	ENST00000392701.3	-	2	853	c.78A>G	c.(76-78)gtA>gtG	p.V26V		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	26					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AGAAAAAAATTACTGCACCAA	0.313																																						uc010fph.1																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						c.(76-78)gtA>gtG		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA.							36.0	43.0	41.0					2																	166627133		2182	4289	6471	SO:0001819	synonymous_variant	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166627133T>C		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.78A>G	2.37:g.166627133T>C						GALNT3_uc010fpi.1_Silent_p.V26V|GALNT3_uc002udi.2_Silent_p.V26V	p.V26V	NM_004482	NP_004473	Q14435	GALT3_HUMAN			1	465	-			26					Q53TG9|Q7Z476	Silent	SNP	ENST00000392701.3	37	c.78A>G	CCDS2226.1																																																																																				0.313	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482	
TLK1	9874	broad.mit.edu	37	2	171902709	171902710	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:171902709_171902710insGG	ENST00000431350.2	-	11	1547_1548	c.1143_1144insCC	c.(1141-1146)ccctttfs	p.F382fs	TLK1_ENST00000434911.2_Frame_Shift_Ins_p.F286fs|TLK1_ENST00000360843.3_Frame_Shift_Ins_p.F403fs|TLK1_ENST00000442919.2_Frame_Shift_Ins_p.F334fs|TLK1_ENST00000521943.1_Frame_Shift_Ins_p.F334fs			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	382					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GGTCTAACAAAGGGATCATTCT	0.366																																						uc002ugo.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1204-1209)ccctttfs		Homo sapiens tousled-like kinase 1 (TLK1), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171902709_171902710insGG	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1142_1143dupCC	2.37:g.171902710_171902711dupGG	ENSP00000411099:p.Phe382fs					TLK1_uc002ugn.2_Frame_Shift_Ins_p.P381fs|TLK1_uc002ugp.2_Frame_Shift_Ins_p.P333fs|TLK1_uc002ugq.2_Non-coding_Transcript|TLK1_uc010zdn.1_Frame_Shift_Ins_p.P285fs|TLK1_uc002ugr.1_Frame_Shift_Ins_p.P164fs	p.P402fs	NM_001136554	NP_036422	Q9UKI8	TLK1_HUMAN			11	1678_1679	-			381					B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Frame_Shift_Ins	INS	ENST00000431350.2	37	c.1206_1207insCC	CCDS2241.1																																																																																				0.366	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290	
KIF16B	55614	broad.mit.edu	37	20	16337074	16337074	+	Silent	SNP	G	G	A	rs533447502		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr20:16337074G>A	ENST00000354981.2	-	23	3679	c.3522C>T	c.(3520-3522)ggC>ggT	p.G1174G	KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000355755.3_Silent_p.G1174G	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1174					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTGGATTTGCGCCCAAAGAGC	0.493													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17937	0.0		0.0	False		,,,				2504	0.0					uc002wpg.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(3520-3522)ggC>ggT		Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.							93.0	82.0	86.0					20																	16337074		2203	4300	6503	SO:0001819	synonymous_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16337074G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3522C>T	20.37:g.16337074G>A						KIF16B_uc002wpe.1_Silent_p.G556G|KIF16B_uc002wpf.1_Intron|KIF16B_uc010gch.2_Silent_p.G1123G	p.G1174G	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			22	3681	-			1174					A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	c.3522C>T	CCDS13122.1																																																																																				0.493	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						uc010ztl.1																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(211-213)aGt>aAt		Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.																																				SO:0001583	missense	284802							g.chr20:29628300G>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.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.S23N	p.S71N							2	244	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.212G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
PARD6B	84612	broad.mit.edu	37	20	49366651	49366651	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr20:49366651G>A	ENST00000371610.2	+	3	988	c.745G>A	c.(745-747)Gca>Aca	p.A249T	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	249	Interaction with PARD3 and CDC42. {ECO:0000250}.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						AGTGAGACCGGCAAACCAGAG	0.448																																						uc002xvo.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						c.(745-747)Gca>Aca		Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA.							127.0	122.0	124.0					20																	49366651		2203	4300	6503	SO:0001583	missense	84612				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	g.chr20:49366651G>A	AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"""par-6 (partitioning defective 6, C.elegans) homolog beta"", ""par-6 partitioning defective 6 homolog beta (C. elegans)"""			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.745G>A	20.37:g.49366651G>A	ENSP00000360672:p.Ala249Thr						p.A249T	NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN			2	988	+			249			Interaction with PARD3 and CDC42 (By similarity).|PDZ.		A2A2A7|Q9Y510	Missense_Mutation	SNP	ENST00000371610.2	37	c.745G>A	CCDS33485.1	.	.	.	.	.	.	.	.	.	.	G	36	5.618062	0.96649	.	.	ENSG00000124171	ENST00000371610	T	0.18174	2.23	6.02	6.02	0.97574	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.45776	0.1359	M	0.78456	2.415	0.80722	D	1	D	0.65815	0.995	D	0.64687	0.928	T	0.33292	-0.9874	10	0.87932	D	0	-32.8013	20.5407	0.99260	0.0:0.0:1.0:0.0	.	249	Q9BYG5	PAR6B_HUMAN	T	249	ENSP00000360672:A249T	ENSP00000360672:A249T	A	+	1	0	PARD6B	48800058	1.000000	0.71417	0.225000	0.23894	0.961000	0.63080	9.383000	0.97214	2.865000	0.98341	0.655000	0.94253	GCA		0.448	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521	
ITGB2	3689	broad.mit.edu	37	21	46311847	46311847	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr21:46311847G>A	ENST00000397850.2	-	12	1741	c.1289C>T	c.(1288-1290)gCg>gTg	p.A430V	ITGB2_ENST00000397852.1_Missense_Mutation_p.A430V|ITGB2_ENST00000302347.5_Missense_Mutation_p.A430V|ITGB2_ENST00000397854.3_Missense_Mutation_p.A373V|ITGB2_ENST00000355153.4_Missense_Mutation_p.A430V|ITGB2_ENST00000397857.1_Missense_Mutation_p.A430V			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	430					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GAAGCCCAGCGCCCGGATGAC	0.642																																						uc002zgd.2																			0		p.R429W(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(1288-1290)gCg>gTg		Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	Simvastatin(DB00641)						97.0	78.0	84.0					21																	46311847		2200	4300	6500	SO:0001583	missense	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46311847G>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.1289C>T	21.37:g.46311847G>A	ENSP00000380948:p.Ala430Val					ITGB2_uc002zgf.3_Missense_Mutation_p.A430V|ITGB2_uc011afl.1_Missense_Mutation_p.A352V|ITGB2_uc010gpw.2_Missense_Mutation_p.A373V|ITGB2_uc002zgg.2_Missense_Mutation_p.A430V	p.A430V	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	9	1333	-			430					B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	c.1289C>T	CCDS13716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.91|13.91	2.378024|2.378024	0.42105|0.42105	.|.	.|.	ENSG00000160255|ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347|ENST00000545414	T;T;T;T;T;T|.	0.63255|.	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03|.	5.54|5.54	5.54|5.54	0.83059|0.83059	Integrin beta subunit, N-terminal (2);|.	.|.	.|.	.|.	.|.	T|T	0.52322|0.52322	0.1727|0.1727	L|L	0.41079|0.41079	1.255|1.255	0.09310|0.09310	N|N	0.999992|0.999992	D;P|.	0.56035|.	0.974;0.819|.	B;B|.	0.35859|.	0.212;0.064|.	T|T	0.49624|0.49624	-0.8920|-0.8920	9|6	0.87932|0.48119	D|T	0|0.1	.|.	16.9813|16.9813	0.86328|0.86328	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	373;430|.	A8MYE6;P05107|.	.;ITB2_HUMAN|.	V|C	430;430;373;430;430;430|373	ENSP00000380950:A430V;ENSP00000380955:A430V;ENSP00000380952:A373V;ENSP00000347279:A430V;ENSP00000380948:A430V;ENSP00000303242:A430V|.	ENSP00000303242:A430V|ENSP00000445948:R373C	A|R	-|-	2|1	0|0	ITGB2|ITGB2	45136275|45136275	1.000000|1.000000	0.71417|0.71417	0.377000|0.377000	0.26055|0.26055	0.462000|0.462000	0.32619|0.32619	7.258000|7.258000	0.78371|0.78371	2.615000|2.615000	0.88500|0.88500	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.642	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211	
PCBP3	54039	broad.mit.edu	37	21	47355174	47355174	+	Silent	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr21:47355174C>T	ENST00000400314.1	+	14	1202	c.864C>T	c.(862-864)gaC>gaT	p.D288D	PCBP3_ENST00000400310.1_Silent_p.D268D|PCBP3_ENST00000449640.1_Silent_p.D288D|PCBP3_ENST00000400304.1_Silent_p.D278D|PCBP3_ENST00000400309.1_Silent_p.D287D|PRED62_ENST00000593412.1_5'Flank|PCBP3_ENST00000400308.1_Silent_p.D262D			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	288					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CAGGTCTGGACGCCAGCCCAC	0.577																																						uc010gqb.3																			0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(862-864)gaC>gaT		Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.							58.0	68.0	65.0					21																	47355174		2071	4206	6277	SO:0001819	synonymous_variant	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47355174C>T	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.864C>T	21.37:g.47355174C>T						PCBP3_uc002zhp.2_Silent_p.D268D|PCBP3_uc002zhq.2_Silent_p.D288D|PCBP3_uc002zhs.2_Silent_p.D262D|PCBP3_uc002zht.2_Silent_p.D278D	p.D288D	NM_020528	NP_065389	P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	13	1127	+	all_hematologic(128;0.24)		288					A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	ENST00000400314.1	37	c.864C>T	CCDS42974.2																																																																																				0.577	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2		
CAMK1	8536	broad.mit.edu	37	3	9799491	9799491	+	Nonsense_Mutation	SNP	T	T	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr3:9799491T>A	ENST00000256460.3	-	11	1129	c.952A>T	c.(952-954)Aaa>Taa	p.K318*	OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000449570.2_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	318					cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		AGCTGCAGTTTCCTCATGTGC	0.612																																						uc003bst.3																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12						c.(952-954)Aaa>Taa		Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.							51.0	52.0	52.0					3																	9799491		2203	4300	6503	SO:0001587	stop_gained	8536				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr3:9799491T>A	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.952A>T	3.37:g.9799491T>A	ENSP00000256460:p.Lys318*					OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_Nonsense_Mutation_p.K92*|AX748417_uc003bsv.1_5'Flank	p.K318*	NM_003656	NP_003647	Q14012	KCC1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	10	1137	-	Medulloblastoma(99;0.227)		318					Q3KPF6	Nonsense_Mutation	SNP	ENST00000256460.3	37	c.952A>T	CCDS2582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.6|24.6	4.546146|4.546146	0.86022|0.86022	.|.	.|.	ENSG00000134072|ENSG00000134072	ENST00000421120|ENST00000256460	.|.	.|.	.|.	5.37|5.37	2.79|2.79	0.32731|0.32731	.|.	.|0.170627	.|0.48286	.|D	.|0.000192	T|.	0.26195|.	0.0639|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34030|.	-0.9845|.	3|.	.|0.02654	.|T	.|1	-12.3086|-12.3086	11.5016|11.5016	0.50441|0.50441	0.0:0.0:0.286:0.714|0.0:0.0:0.286:0.714	.|.	.|.	.|.	.|.	V|X	164|318	.|.	.|ENSP00000256460:K318X	E|K	-|-	2|1	0|0	CAMK1|CAMK1	9774491|9774491	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.891000|0.891000	0.51852|0.51852	1.328000|1.328000	0.33758|0.33758	0.277000|0.277000	0.22141|0.22141	0.482000|0.482000	0.46254|0.46254	GAA|AAA		0.612	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656	
VHL	7428	broad.mit.edu	37	3	10183867	10183867	+	Silent	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr3:10183867C>T	ENST00000256474.2	+	1	1176	c.336C>T	c.(334-336)taC>taT	p.Y112Y	VHL_ENST00000345392.2_Silent_p.Y112Y|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	112	Involved in binding to CCT complex.		Y -> H (in VHLD; type IIA).|Y -> N (in VHLD). {ECO:0000269|PubMed:10533030}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.Y112*(2)|p.Y112fs*1(2)|p.?(1)|p.I109_R113del(1)|p.S111fs*45(1)|p.R113fs*46(1)|p.S111_Y112del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCCACAGCTACCGAGGTACGG	0.697		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													uc003bvc.3		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"""D, Mis, N, F, S"""	von Hippel-Lindau syndrome gene			"""E, M, O"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""		9	Deletion - Frameshift(4)|Substitution - Nonsense(2)|Deletion - In frame(2)|Unknown(1)	p.S111N(5)|p.Y112*(4)|p.Y112fs*1(4)|p.S111R(3)|p.S111S(2)|p.S111fs*48(2)|p.I109_R113del(2)|p.S111fs*45(2)|p.S111G(2)|p.S111I(2)|p.S111_Y112del(2)|p.S111fs*49(1)|p.?(1)|p.Y112D(1)|p.S111fs*22(1)|p.R113fs*46(1)|p.H110_S111del(1)|p.Y112fs*47(1)	kidney(9)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CM951282	VHL	M		c.(334-336)taC>taT		Homo sapiens von Hippel-Lindau tumor suppressor (VHL), transcript variant 1, mRNA.							10.0	11.0	11.0					3																	10183867		1837	3816	5653	SO:0001819	synonymous_variant	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10183867C>T	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.336C>T	3.37:g.10183867C>T						VHL_uc003bvd.3_Silent_p.Y112Y	p.Y112Y	NM_000551	NP_000542	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	0	549	+			112		Y -> H (in VHLD; type IIA).|Y -> N (in VHLD).	Involved in binding to CCT complex.		B2RE45|Q13599|Q6PDA9	Silent	SNP	ENST00000256474.2	37	c.336C>T	CCDS2597.1																																																																																				0.697	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	
OR5K1	26339	broad.mit.edu	37	3	98188932	98188932	+	Missense_Mutation	SNP	C	C	T	rs199803370		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr3:98188932C>T	ENST00000332650.5	+	1	609	c.512C>T	c.(511-513)tCg>tTg	p.S171L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S171L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCTGTGGATCGAATCACATC	0.398																																						uc003dsm.3																			1	Substitution - Missense(1)	p.S171L(2)|p.G170A(1)|p.S171T(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(511-513)tCg>tTg		Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	249.0	250.0	250.0		512	4.5	0.0	3		250	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR5K1	NM_001004736.2	145	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	171/309	98188932	2,13004	2203	4300	6503	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188932C>T	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.512C>T	3.37:g.98188932C>T	ENSP00000373193:p.Ser171Leu						p.S171L	NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN			0	512	+			171					B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.512C>T	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904258	0.33628	2.27E-4	1.16E-4	ENSG00000232382	ENST00000332650	T	0.38560	1.13	5.33	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.174299	0.27725	N	0.018113	T	0.58090	0.2098	M	0.78801	2.425	0.09310	N	1	D	0.56287	0.975	P	0.56612	0.802	T	0.55302	-0.8162	10	0.66056	D	0.02	-13.0723	11.7681	0.51943	0.0:0.9138:0.0:0.0862	.	171	Q8NHB7	OR5K1_HUMAN	L	171	ENSP00000373193:S171L	ENSP00000373193:S171L	S	+	2	0	OR5K1	99671622	0.000000	0.05858	0.043000	0.18650	0.066000	0.16364	0.199000	0.17237	1.247000	0.43917	-0.253000	0.11424	TCG		0.398	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1		
FSTL1	11167	broad.mit.edu	37	3	120123732	120123732	+	Silent	SNP	C	C	T	rs138829728		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr3:120123732C>T	ENST00000295633.3	-	7	905	c.549G>A	c.(547-549)acG>acA	p.T183T	FSTL1_ENST00000424703.2_Silent_p.T148T	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	183					BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		GGTCTGGATACGTTGTAATAT	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21402	0.0		0.0	False		,,,				2504	0.0					uc003eds.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20						c.(547-549)acG>acA		Homo sapiens follistatin-like 1 (FSTL1), mRNA.							264.0	244.0	251.0					3																	120123732		2203	4300	6503	SO:0001819	synonymous_variant	11167				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	g.chr3:120123732C>T	U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.549G>A	3.37:g.120123732C>T						FSTL1_uc011bjh.2_Silent_p.T148T	p.T183T	NM_007085	NP_009016	Q12841	FSTL1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	6	724	-			183					A8K523|B4DTT5|D3DN90|Q549Z0	Silent	SNP	ENST00000295633.3	37	c.549G>A	CCDS2998.1																																																																																				0.448	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1	NM_007085	
IGSF10	285313	broad.mit.edu	37	3	151166049	151166049	+	Missense_Mutation	SNP	C	C	T	rs116716539	byFrequency	TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr3:151166049C>T	ENST00000282466.3	-	4	1719	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	574	Ig-like C2-type 2.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGATAGGCTTCGACCAAAGGT	0.413													C|||	4	0.000798722	0.0	0.0	5008	,	,		22318	0.0		0.004	False		,,,				2504	0.0					uc011bod.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(1720-1722)Gaa>Aaa		Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.		C	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	113.0	106.0	108.0		1720	3.4	0.0	3	dbSNP_132	108	10,8590	7.7+/-29.5	0,10,4290	yes	missense	IGSF10	NM_178822.4	56	0,12,6491	TT,TC,CC		0.1163,0.0454,0.0923	possibly-damaging	574/2624	151166049	12,12994	2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151166049C>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1720G>A	3.37:g.151166049C>T	ENSP00000282466:p.Glu574Lys						p.E574K	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1720	-			574			Ig-like C2-type 2.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.1720G>A	CCDS3160.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	C	9.847	1.192714	0.21954	4.54E-4	0.001163	ENSG00000152580	ENST00000282466	T	0.69561	-0.41	5.17	3.36	0.38483	Immunoglobulin-like (1);	0.148155	0.30999	N	0.008453	T	0.48978	0.1530	M	0.63843	1.955	0.09310	N	0.999999	P	0.52316	0.952	B	0.41174	0.349	T	0.49844	-0.8896	10	0.09084	T	0.74	.	10.3066	0.43685	0.0:0.79:0.1364:0.0736	.	574	Q6WRI0	IGS10_HUMAN	K	574	ENSP00000282466:E574K	ENSP00000282466:E574K	E	-	1	0	IGSF10	152648739	0.388000	0.25197	0.001000	0.08648	0.098000	0.18820	4.671000	0.61590	0.564000	0.29238	0.650000	0.86243	GAA		0.413	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822	
TMEM156	80008	broad.mit.edu	37	4	39000377	39000377	+	Missense_Mutation	SNP	G	G	A	rs13118782		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr4:39000377G>A	ENST00000381938.3	-	2	348	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	TMEM156_ENST00000372489.2_5'UTR	NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	81						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GTGAAGTTACGAAAATTGGAG	0.368																																						uc003gto.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(241-243)Cgt>Tgt		Homo sapiens transmembrane protein 156 (TMEM156), mRNA.		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	73.0	75.0		241	3.9	1.0	4	dbSNP_121	75	0,8600		0,0,4300	no	missense	TMEM156	NM_024943.1	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	81/297	39000377	1,13005	2203	4300	6503	SO:0001583	missense	80008					integral to membrane		g.chr4:39000377G>A	AK026888	CCDS3448.1	4p14	2008-02-05			ENSG00000121895	ENSG00000121895			26260	protein-coding gene	gene with protein product						12477932	Standard	NM_024943		Approved	FLJ23235	uc003gto.3	Q8N614	OTTHUMG00000128582	ENST00000381938.3:c.241C>T	4.37:g.39000377G>A	ENSP00000371364:p.Arg81Cys					TMEM156_uc010ifj.3_Missense_Mutation_p.R81C	p.R81C	NM_024943	NP_079219	Q8N614	TM156_HUMAN			1	349	-			81					Q9H5N9	Missense_Mutation	SNP	ENST00000381938.3	37	c.241C>T	CCDS3448.1	.	.	.	.	.	.	.	.	.	.	G	8.941	0.965822	0.18583	2.27E-4	0.0	ENSG00000121895	ENST00000381938;ENST00000344606	T;T	0.24908	1.83;1.83	4.73	3.87	0.44632	.	0.628966	0.15713	N	0.248325	T	0.13670	0.0331	N	0.08118	0	0.29143	N	0.878895	B	0.26400	0.148	B	0.16722	0.016	T	0.11108	-1.0601	10	0.87932	D	0	-1.3883	10.9337	0.47233	0.0:0.1896:0.8104:0.0	.	81	Q8N614	TM156_HUMAN	C	81	ENSP00000371364:R81C;ENSP00000343758:R81C	ENSP00000343758:R81C	R	-	1	0	TMEM156	38676772	1.000000	0.71417	0.971000	0.41717	0.055000	0.15305	1.721000	0.38032	1.306000	0.44926	0.609000	0.83330	CGT		0.368	TMEM156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250435.3	NM_024943	
UGT2B7	7364	broad.mit.edu	37	4	69973993	69973993	+	Silent	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr4:69973993G>A	ENST00000305231.7	+	5	1309	c.1263G>A	c.(1261-1263)tcG>tcA	p.S421S	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	421					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ACACAATGTCGAGTACAGACT	0.423																																						uc003heg.4																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1261-1263)tcG>tcA		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.							217.0	206.0	210.0					4																	69973993		2203	4300	6503	SO:0001819	synonymous_variant	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69973993G>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1263G>A	4.37:g.69973993G>A						UGT2B7_uc010ihq.3_Intron	p.S421S	NM_001074	NP_001065	P16662	UD2B7_HUMAN			4	1309	+			421					B2R810|Q6GTW0	Silent	SNP	ENST00000305231.7	37	c.1263G>A	CCDS3526.1																																																																																				0.423	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074	
TRPC3	7222	broad.mit.edu	37	4	122833104	122833104	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr4:122833104G>C	ENST00000379645.3	-	5	1559	c.1486C>G	c.(1486-1488)Ccc>Gcc	p.P496A	TRPC3_ENST00000264811.5_Missense_Mutation_p.P423A|TRPC3_ENST00000513531.1_Missense_Mutation_p.P368A	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	411					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ATCTGTTTGGGATAGTCAGTA	0.423																																						uc003ieg.2																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1486-1488)Ccc>Gcc		Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.							126.0	124.0	125.0					4																	122833104		2203	4300	6503	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122833104G>C	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1486C>G	4.37:g.122833104G>C	ENSP00000368966:p.Pro496Ala					TRPC3_uc010inr.2_Missense_Mutation_p.P368A|TRPC3_uc003ief.2_Missense_Mutation_p.P423A|TRPC3_uc011cgl.1_Missense_Mutation_p.P160A	p.P496A	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN			4	1560	-			411					A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.1486C>G	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988906	0.53934	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	T;T;T	0.69040	-0.37;-0.37;-0.37	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.57784	0.2077	L	0.41573	1.285	0.80722	D	1	B;B;B	0.11235	0.001;0.001;0.004	B;B;B	0.15484	0.005;0.003;0.013	T	0.55860	-0.8074	10	0.06757	T	0.87	0.7219	19.6431	0.95764	0.0:0.0:1.0:0.0	.	411;368;496	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	A	423;496;368	ENSP00000264811:P423A;ENSP00000368966:P496A;ENSP00000426899:P368A	ENSP00000264811:P423A	P	-	1	0	TRPC3	123052554	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.673000	0.98631	2.647000	0.89833	0.561000	0.74099	CCC		0.423	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305	
TBC1D9	23158	broad.mit.edu	37	4	141600954	141600954	+	Missense_Mutation	SNP	T	T	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr4:141600954T>A	ENST00000442267.2	-	4	478	c.404A>T	c.(403-405)gAt>gTt	p.D135V		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	135							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CGTGTCATCATCTTCCTTTAC	0.368																																						uc010ioj.3																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(403-405)gAt>gTt		Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.							87.0	82.0	83.0					4																	141600954		1857	4092	5949	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141600954T>A	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.404A>T	4.37:g.141600954T>A	ENSP00000411197:p.Asp135Val						p.D135V	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			3	676	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	135					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.404A>T	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.840593	0.71488	.	.	ENSG00000109436	ENST00000442267	T	0.09911	2.93	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.14570	0.0352	L	0.52364	1.645	0.80722	D	1	P	0.34934	0.476	B	0.36719	0.231	T	0.01524	-1.1333	10	0.72032	D	0.01	.	15.4549	0.75305	0.0:0.0:0.0:1.0	.	135	Q6ZT07	TBCD9_HUMAN	V	135	ENSP00000411197:D135V	ENSP00000411197:D135V	D	-	2	0	TBC1D9	141820404	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.932000	0.87634	2.061000	0.61500	0.533000	0.62120	GAT		0.368	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130	
TERT	7015	broad.mit.edu	37	5	1260707	1260707	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr5:1260707C>T	ENST00000310581.5	-	12	2909	c.2852G>A	c.(2851-2853)cGg>cAg	p.R951Q	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.R888Q	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	951	CTE.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GATGGAGGTCCGGGCATAGCT	0.602									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													uc003jcb.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(2851-2853)cGg>cAg		Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.							74.0	82.0	80.0					5																	1260707		2107	4216	6323	SO:0001583	missense	7015	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1260707C>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2852G>A	5.37:g.1260707C>T	ENSP00000309572:p.Arg951Gln					TERT_uc003jbz.1_Missense_Mutation_p.R147Q|TERT_uc003jcc.1_Missense_Mutation_p.R888Q|TERT_uc003jca.1_Missense_Mutation_p.R939Q|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Missense_Mutation_p.R103Q	p.R951Q	NM_198253	NP_937983	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		11	2910	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		951			CTE.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.2852G>A	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	C	5.019	0.189184	0.09547	.	.	ENSG00000164362	ENST00000310581;ENST00000334602	T;T	0.69306	-0.39;-0.39	4.53	-1.29	0.09288	.	0.951047	0.08815	N	0.889616	T	0.46580	0.1400	L	0.27944	0.81	0.09310	N	1	B;B	0.26400	0.017;0.148	B;B	0.15870	0.014;0.011	T	0.20472	-1.0274	10	0.12103	T	0.63	-20.2545	9.529	0.39182	0.0:0.5857:0.0:0.4143	.	888;951	O14746-3;O14746	.;TERT_HUMAN	Q	951;888	ENSP00000309572:R951Q;ENSP00000334346:R888Q	ENSP00000309572:R951Q	R	-	2	0	TERT	1313707	0.000000	0.05858	0.004000	0.12327	0.801000	0.45260	-0.532000	0.06164	-0.758000	0.04690	0.561000	0.74099	CGG		0.602	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2		
ZNF366	167465	broad.mit.edu	37	5	71752388	71752388	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr5:71752388C>T	ENST00000318442.5	-	3	1857	c.1367G>A	c.(1366-1368)cGg>cAg	p.R456Q		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	456	Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGTGAACTCCCGCCCACAAAT	0.527																																						uc003kce.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1366-1368)cGg>cAg		Homo sapiens zinc finger protein 366 (ZNF366), mRNA.							233.0	200.0	211.0					5																	71752388		2203	4300	6503	SO:0001583	missense	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71752388C>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1367G>A	5.37:g.71752388C>T	ENSP00000313158:p.Arg456Gln						p.R456Q	NM_152625	NP_689838	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	1553	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	456					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.1367G>A	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	36	5.802776	0.96960	.	.	ENSG00000178175	ENST00000318442	T	0.07567	3.18	5.67	5.67	0.87782	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.102594	0.43919	D	0.000507	T	0.22399	0.0540	L	0.33339	1.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00466	-1.1722	10	0.87932	D	0	-21.8618	19.8197	0.96589	0.0:1.0:0.0:0.0	.	456	Q8N895	ZN366_HUMAN	Q	456	ENSP00000313158:R456Q	ENSP00000313158:R456Q	R	-	2	0	ZNF366	71788144	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.697000	0.92050	0.585000	0.79938	CGG		0.527	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3		
GABRB2	2561	broad.mit.edu	37	5	160753407	160753407	+	Missense_Mutation	SNP	G	G	A	rs140795978		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr5:160753407G>A	ENST00000393959.1	-	9	1158	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	GABRB2_ENST00000274547.2_Missense_Mutation_p.R387W|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000520240.1_Intron|GABRB2_ENST00000353437.6_Intron|GABRB2_ENST00000517901.1_Intron			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	387					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ttggtagtccgtctagttggg	0.383																																						uc003lys.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1159-1161)Cgg>Tgg		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	G	,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	124.0	122.0	123.0		,1159	4.3	1.0	5	dbSNP_134	123	2,8596	2.2+/-6.3	0,2,4297	no	intron,missense	GABRB2	NM_000813.2,NM_021911.2	,101	0,3,6499	AA,AG,GG		0.0233,0.0227,0.0231	,benign	,387/513	160753407	3,13001	2203	4299	6502	SO:0001583	missense	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160753407G>A		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1159C>T	5.37:g.160753407G>A	ENSP00000377531:p.Arg387Trp					GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Intron|GABRB2_uc003lyt.1_Intron	p.R387W	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1377	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	387					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.1159C>T	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409420	0.42715	2.27E-4	2.33E-4	ENSG00000145864	ENST00000393959;ENST00000274547	T;T	0.71341	-0.56;-0.56	5.23	4.35	0.52113	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.301540	0.03656	U	0.241788	T	0.55242	0.1908	N	0.08118	0	0.31427	N	0.67359	B	0.18610	0.029	B	0.10450	0.005	T	0.51284	-0.8725	10	0.59425	D	0.04	.	8.4688	0.32973	0.1803:0.0:0.8197:0.0	.	387	P47870	GBRB2_HUMAN	W	387	ENSP00000377531:R387W;ENSP00000274547:R387W	ENSP00000274547:R387W	R	-	1	2	GABRB2	160685985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.488000	0.35551	1.187000	0.43000	0.563000	0.77884	CGG		0.383	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1		
PKHD1	5314	broad.mit.edu	37	6	51941108	51941108	+	Silent	SNP	G	G	A	rs368595925		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr6:51941108G>A	ENST00000371117.3	-	6	689	c.414C>T	c.(412-414)atC>atT	p.I138I	PKHD1_ENST00000340994.4_Silent_p.I138I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	138	IPT/TIG 2.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTTGGTGAACGATGGGTGTCT	0.393																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(412-414)atC>atT		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.		G	,	0,4406		0,0,2203	103.0	106.0	105.0		414,414	0.2	0.7	6		105	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PKHD1	NM_138694.3,NM_170724.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	138/4075,138/3397	51941108	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51941108G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.414C>T	6.37:g.51941108G>A						PKHD1_uc003pai.3_Silent_p.I138I	p.I138I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			5	690	-	Lung NSC(77;0.0605)		138			IPT/TIG 2.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.414C>T	CCDS4935.1																																																																																				0.393	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
KCNQ5	56479	broad.mit.edu	37	6	73843328	73843328	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr6:73843328C>T	ENST00000370398.1	+	10	1541	c.1432C>T	c.(1432-1434)Cgc>Tgc	p.R478C	KCNQ5_ENST00000403813.2_Missense_Mutation_p.R469C|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000342056.2_Missense_Mutation_p.R497C|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R478C|KCNQ5-AS1_ENST00000429832.1_RNA|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R488C|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R479C	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	478					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GCCCTCGCTGCGCCTCAAAAG	0.512																																					GBM(142;1375 1859 14391 23261 44706)	uc011dyh.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(1489-1491)Cgc>Tgc		Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.							66.0	68.0	67.0					6																	73843328		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73843328C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1432C>T	6.37:g.73843328C>T	ENSP00000359425:p.Arg478Cys					KCNQ5_uc011dyi.2_Missense_Mutation_p.R488C|KCNQ5_uc010kat.3_Missense_Mutation_p.R469C|KCNQ5_uc003pgk.3_Missense_Mutation_p.R478C|KCNQ5_uc011dyj.2_Intron|KCNQ5_uc011dyk.2_Missense_Mutation_p.R228C	p.R497C	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	10	1836	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	478					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.1489C>T	CCDS4976.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.731170|4.731170	0.89390|0.89390	.|.	.|.	ENSG00000185760|ENSG00000185760	ENST00000427928|ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813	.|D;D;D;D;D;D	.|0.99741	.|-6.6;-6.6;-6.6;-6.6;-6.6;-6.6	5.59|5.59	5.59|5.59	0.84812|0.84812	.|Potassium channel, voltage dependent, KCNQ, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99417|0.99417	0.9794|0.9794	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.62365	.|0.988;0.991;0.882;0.991	.|P;P;B;P	.|0.54372	.|0.651;0.75;0.301;0.705	D|D	0.98936|0.98936	1.0789|1.0789	5|10	.|0.87932	.|D	.|0	.|.	18.1396|18.1396	0.89634|0.89634	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|488;497;469;478	.|Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.|.;.;.;KCNQ5_HUMAN	V|C	69|497;497;478;478;488;479;469	.|ENSP00000345055:R497C;ENSP00000347326:R478C;ENSP00000359425:R478C;ENSP00000385501:R488C;ENSP00000347853:R479C;ENSP00000384453:R469C	.|ENSP00000345055:R497C	A|R	+|+	2|1	0|0	KCNQ5|KCNQ5	73900049|73900049	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	2.151000|2.151000	0.42263|0.42263	2.797000|2.797000	0.96272|0.96272	0.563000|0.563000	0.77884|0.77884	GCG|CGC		0.512	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842	
MACC1	346389	broad.mit.edu	37	7	20199376	20199376	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:20199376C>G	ENST00000400331.5	-	5	916	c.608G>C	c.(607-609)gGa>gCa	p.G203A	MACC1_ENST00000332878.4_Missense_Mutation_p.G203A|MACC1_ENST00000589011.1_Missense_Mutation_p.G203A	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	203					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CTGGGCCCATCCAGGGCTCTG	0.473																																						uc003sus.4																			0				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						c.(607-609)gGa>gCa		Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.							58.0	56.0	57.0					7																	20199376		2203	4300	6503	SO:0001583	missense	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20199376C>G		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.608G>C	7.37:g.20199376C>G	ENSP00000383185:p.Gly203Ala					MACC1_uc010kug.3_Missense_Mutation_p.G203A	p.G203A	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN			4	917	-			203					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	c.608G>C	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678165	0.68042	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.35605	1.3;1.3	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.65512	0.2698	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68530	-0.5384	10	0.87932	D	0	-20.1041	19.8516	0.96743	0.0:1.0:0.0:0.0	.	203	Q6ZN28	MACC1_HUMAN	A	203	ENSP00000383185:G203A;ENSP00000328410:G203A	ENSP00000328410:G203A	G	-	2	0	MACC1	20165901	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	7.818000	0.86416	2.685000	0.91497	0.585000	0.79938	GGA		0.473	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762	
AMPH	273	broad.mit.edu	37	7	38471801	38471801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:38471801C>T	ENST00000356264.2	-	13	1361	c.1146G>A	c.(1144-1146)tgG>tgA	p.W382*	AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000428293.2_Nonsense_Mutation_p.W382*|AMPH_ENST00000325590.5_Nonsense_Mutation_p.W382*	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	382					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.W382*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TCCATAGGTCCCAGGGCAATG	0.318																																						uc003tgu.3																			1	Substitution - Nonsense(1)	p.W382*(2)	skin(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(1144-1146)tgG>tgA		Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.							104.0	106.0	105.0					7																	38471801		2203	4300	6503	SO:0001587	stop_gained	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38471801C>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1146G>A	7.37:g.38471801C>T	ENSP00000348602:p.Trp382*					AMPH_uc003tgv.3_Nonsense_Mutation_p.W382*|AMPH_uc003tgt.3_Nonsense_Mutation_p.W135*|AMPH_uc003tgw.1_5'Flank|AMPH_uc010kxl.1_5'Flank	p.W382*	NM_001635	NP_001626	P49418	AMPH_HUMAN			12	1362	-			382					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Nonsense_Mutation	SNP	ENST00000356264.2	37	c.1146G>A	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.156486|8.156486	0.98680|0.98680	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000441628|ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.63803|.	0.2542|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.55224|.	-0.8174|.	3|.	.|0.12430	.|T	.|0.62	-8.7234|-8.7234	19.5078|19.5078	0.95127|0.95127	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	R|X	133|382;382;382;152	.|.	.|ENSP00000317441:W382X	G|W	-|-	1|3	0|0	AMPH|AMPH	38438326|38438326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.265000|5.265000	0.65519|0.65519	2.613000|2.613000	0.88420|0.88420	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.318	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635	
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:44684936delT	ENST00000222673.5	+	3	275	c.233delT	c.(232-234)attfs	p.I78fs	OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	78					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R81fs*19(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TCATGGGACATTTTTTTTCGC	0.577																																						uc003tln.3																			1	Deletion - Frameshift(1)	p.R81fs*19(1)	breast(1)	breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(232-234)attfs		Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	NADH(DB00157)						127.0	121.0	123.0					7																	44684936		2203	4300	6503	SO:0001589	frameshift_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44684936delT	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.233delT	7.37:g.44684936delT	ENSP00000222673:p.Ile78fs					OGDH_uc003tlm.3_Frame_Shift_Del_p.I78fs|OGDH_uc011kbx.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kby.2_Intron|OGDH_uc003tlp.3_Frame_Shift_Del_p.I78fs|OGDH_uc011kbz.2_5'UTR|OGDH_uc003tlo.1_5'UTR	p.I78fs	NM_002541	NP_002532	Q02218	ODO1_HUMAN			2	392	+			78					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Frame_Shift_Del	DEL	ENST00000222673.5	37	c.233delT	CCDS34627.1																																																																																				0.577	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1		
ADCY1	107	broad.mit.edu	37	7	45717648	45717648	+	Missense_Mutation	SNP	G	G	A	rs147187783	byFrequency	TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:45717648G>A	ENST00000297323.7	+	9	1808	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	596					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CAAACATGTCGAACGGGAGCA	0.557																																						uc003tne.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1786-1788)Gaa>Aaa		Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	85.0	86.0	85.0		1786	5.2	0.4	7	dbSNP_134	85	5,8595	4.3+/-15.6	0,5,4295	yes	missense	ADCY1	NM_021116.2	56	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	probably-damaging	596/1120	45717648	6,13000	2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45717648G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1786G>A	7.37:g.45717648G>A	ENSP00000297323:p.Glu596Lys						p.E596K	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			8	1804	+			596					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.1786G>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723276	0.68959	2.27E-4	5.81E-4	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.53423	0.62	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.39332	0.1074	L	0.59436	1.845	0.80722	D	1	P	0.43477	0.808	B	0.29785	0.107	T	0.36768	-0.9734	10	0.23302	T	0.38	.	16.3318	0.83023	0.0:0.0:1.0:0.0	.	596	Q08828	ADCY1_HUMAN	K	596	ENSP00000297323:E596K	ENSP00000297323:E596K	E	+	1	0	ADCY1	45684173	1.000000	0.71417	0.403000	0.26384	0.470000	0.32858	9.260000	0.95568	2.445000	0.82738	0.655000	0.94253	GAA		0.557	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116	
POM121L12	285877	broad.mit.edu	37	7	53103406	53103406	+	Silent	SNP	C	C	T	rs376993804		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:53103406C>T	ENST00000408890.4	+	1	58	c.42C>T	c.(40-42)aaC>aaT	p.N14N		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	14										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACCTCGGGAACTTCTGGAAGG	0.706																																						uc003tpz.3																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(40-42)aaC>aaT		Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.							12.0	16.0	15.0					7																	53103406		2003	4149	6152	SO:0001819	synonymous_variant	285877							g.chr7:53103406C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.42C>T	7.37:g.53103406C>T							p.N14N	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			0	58	+			14					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.42C>T	CCDS43584.1																																																																																				0.706	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595	
FKBP6	8468	broad.mit.edu	37	7	72744235	72744235	+	Silent	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:72744235C>T	ENST00000252037.4	+	4	417	c.348C>T	c.(346-348)taC>taT	p.Y116Y	FKBP6_ENST00000431982.2_Silent_p.Y111Y|TRIM50_ENST00000493498.1_5'Flank|TRIM50_ENST00000333149.2_5'Flank|FKBP6_ENST00000413573.2_Silent_p.Y86Y	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	116	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				AACCGAACTACGCCTATGGAA	0.537																																						uc003tya.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16						c.(346-348)taC>taT		Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.							148.0	129.0	135.0					7																	72744235		2203	4300	6503	SO:0001819	synonymous_variant	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72744235C>T	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.348C>T	7.37:g.72744235C>T						FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Silent_p.Y111Y|FKBP6_uc010lbe.1_Non-coding_Transcript|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank	p.Y116Y	NM_003602	NP_003593	O75344	FKBP6_HUMAN			3	480	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	116			PPIase FKBP-type.		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Silent	SNP	ENST00000252037.4	37	c.348C>T	CCDS43595.1																																																																																				0.537	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602	
MUC17	140453	broad.mit.edu	37	7	100680821	100680821	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:100680821C>T	ENST00000306151.4	+	3	6188	c.6124C>T	c.(6124-6126)Cgg>Tgg	p.R2042W		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2042	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.R2042W(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTAGTGAACGGACCACTCC	0.502																																						uc003uxp.1																			1	Substitution - Missense(1)	p.R2042W(2)|p.E2041K(1)|p.R2042L(1)	kidney(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6124-6126)Cgg>Tgg		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							177.0	169.0	172.0					7																	100680821		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680821C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6124C>T	7.37:g.100680821C>T	ENSP00000302716:p.Arg2042Trp					MUC17_uc010lho.1_Non-coding_Transcript	p.R2042W	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	6177	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2042			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.6124C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	6.604	0.479803	0.12581	.	.	ENSG00000169876	ENST00000306151	T	0.02944	4.1	0.512	-1.02	0.10135	.	.	.	.	.	T	0.01189	0.0039	N	0.08118	0	0.09310	N	1	P	0.35600	0.511	B	0.10450	0.005	T	0.44967	-0.9293	9	0.66056	D	0.02	.	2.3639	0.04314	0.2679:0.3342:0.3979:0.0	.	2042	Q685J3	MUC17_HUMAN	W	2042	ENSP00000302716:R2042W	ENSP00000302716:R2042W	R	+	1	2	MUC17	100467541	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.765000	0.00783	-1.292000	0.02366	-1.801000	0.00618	CGG		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
MUC17	140453	broad.mit.edu	37	7	100684307	100684308	+	In_Frame_Ins	INS	-	-	CTC			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:100684307_100684308insCTC	ENST00000306151.4	+	3	9674_9675	c.9610_9611insCTC	c.(9610-9612)tct>tCTCct	p.3204_3205insP		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3204	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCCACTTCATCTACAACTGCT	0.5																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9610-9612)tct>tCTCct		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.																																				SO:0001652	inframe_insertion	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684307_100684308insCTC	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	Exception_encountered	7.37:g.100684307_100684308insCTC	ENSP00000302716:p.Ser3204_Thr3205insPro					MUC17_uc010lho.1_Non-coding_Transcript	p.3204_3205insP	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	9663_9664	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3204			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	In_Frame_Ins	INS	ENST00000306151.4	37	c.9610_9611insCTC	CCDS34711.1																																																																																				0.500	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
PIK3CG	5294	broad.mit.edu	37	7	106508855	106508855	+	Silent	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:106508855C>T	ENST00000359195.3	+	2	1159	c.849C>T	c.(847-849)ggC>ggT	p.G283G	PIK3CG_ENST00000496166.1_Silent_p.G283G|PIK3CG_ENST00000440650.2_Silent_p.G283G	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	283	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G283G(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ACCTGGTGGGCGAAACGCCCA	0.552																																						uc003vdv.4																			1	Substitution - coding silent(1)	p.G283G(2)	large_intestine(1)	breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(847-849)ggC>ggT		Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.							45.0	43.0	44.0					7																	106508855		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508855C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.849C>T	7.37:g.106508855C>T						PIK3CG_uc003vdu.3_Silent_p.G283G|PIK3CG_uc003vdw.3_Silent_p.G283G	p.G283G	NM_002649	NP_002640	P48736	PK3CG_HUMAN			1	934	+			283					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.849C>T	CCDS5739.1																																																																																				0.552	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
PTDSS1	9791	broad.mit.edu	37	8	97345772	97345772	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr8:97345772C>G	ENST00000517309.1	+	13	1726	c.1400C>G	c.(1399-1401)aCc>aGc	p.T467S	PTDSS1_ENST00000522072.1_Intron|PTDSS1_ENST00000455950.2_Missense_Mutation_p.T321S	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	467					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TCAAAAGTCACCAATGGCGTT	0.473											OREG0018880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003yht.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29						c.(1399-1401)aCc>aGc		Homo sapiens phosphatidylserine synthase 1 (PTDSS1), mRNA.	Phosphatidylserine(DB00144)						149.0	139.0	142.0					8																	97345772		2203	4300	6503	SO:0001583	missense	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97345772C>G	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.1400C>G	8.37:g.97345772C>G	ENSP00000430548:p.Thr467Ser		OREG0018880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1327	PTDSS1_uc003yhu.1_Missense_Mutation_p.T321S	p.T467S	NM_014754	NP_055569	P48651	PTSS1_HUMAN			12	1502	+	Breast(36;6.18e-05)		467					E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	c.1400C>G	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050590	0.55218	.	.	ENSG00000156471	ENST00000517309;ENST00000455950	T;T	0.43294	0.95;0.95	5.55	5.55	0.83447	.	0.112886	0.64402	N	0.000011	T	0.35740	0.0942	L	0.36672	1.1	0.38495	D	0.948089	B	0.02656	0.0	B	0.04013	0.001	T	0.13282	-1.0515	10	0.32370	T	0.25	-21.7418	16.4211	0.83759	0.0:1.0:0.0:0.0	.	467	P48651	PTSS1_HUMAN	S	467;321	ENSP00000430548:T467S;ENSP00000401248:T321S	ENSP00000401248:T321S	T	+	2	0	PTDSS1	97414948	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.377000	0.59562	2.602000	0.87976	0.655000	0.94253	ACC		0.473	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2		
ACTL7B	10880	broad.mit.edu	37	9	111617172	111617172	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr9:111617172T>C	ENST00000374667.3	-	1	2067	c.1039A>G	c.(1039-1041)Atg>Gtg	p.M347V		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	347						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCATCCAGCATAGTGCAGCCG	0.682																																						uc004bdi.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1039-1041)Atg>Gtg		Homo sapiens actin-like 7B (ACTL7B), mRNA.							31.0	37.0	35.0					9																	111617172		2197	4288	6485	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617172T>C	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.1039A>G	9.37:g.111617172T>C	ENSP00000363799:p.Met347Val						p.M347V	NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN			0	1104	-			347					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.1039A>G	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955910	0.73902	.	.	ENSG00000148156	ENST00000374667	D	0.94497	-3.44	5.24	5.24	0.73138	.	0.000000	0.47455	D	0.000223	D	0.97393	0.9147	M	0.88450	2.955	0.45366	D	0.99835	D	0.63046	0.992	D	0.76071	0.987	D	0.98104	1.0416	10	0.87932	D	0	.	13.1051	0.59244	0.0:0.0:0.0:1.0	.	347	Q9Y614	ACL7B_HUMAN	V	347	ENSP00000363799:M347V	ENSP00000363799:M347V	M	-	1	0	ACTL7B	110656993	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	5.028000	0.64115	1.983000	0.57843	0.459000	0.35465	ATG		0.682	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686	
ZNF618	114991	broad.mit.edu	37	9	116798608	116798608	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr9:116798608delC	ENST00000374126.5	+	13	1296	c.1197delC	c.(1195-1197)atcfs	p.I399fs	ZNF618_ENST00000288466.7_Frame_Shift_Del_p.I306fs|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	399					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CCTGTGGGATCCAGTTCCAGT	0.582																																						uc004bid.3																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(1195-1197)atcfs		Homo sapiens zinc finger protein 618 (ZNF618), mRNA.							60.0	66.0	64.0					9																	116798608		1964	4143	6107	SO:0001589	frameshift_variant	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116798608delC	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1197delC	9.37:g.116798608delC	ENSP00000363241:p.Ile399fs					ZNF618_uc004bic.3_Frame_Shift_Del_p.I306fs|ZNF618_uc011lxi.2_Frame_Shift_Del_p.I366fs|ZNF618_uc011lxj.2_Frame_Shift_Del_p.I367fs|ZNF618_uc010mvb.3_5'UTR	p.I399fs	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			12	1296	+			399					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Frame_Shift_Del	DEL	ENST00000374126.5	37	c.1197delC																																																																																					0.582	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983	
SCAI	286205	broad.mit.edu	37	9	127781214	127781214	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr9:127781214A>G	ENST00000336505.6	-	9	783	c.725T>C	c.(724-726)gTa>gCa	p.V242A	SCAI_ENST00000373549.4_Missense_Mutation_p.V265A	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	242					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						ATCATTTAATACCATTACAGG	0.393																																						uc004bpd.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						c.(793-795)gTa>gCa		Homo sapiens suppressor of cancer cell invasion (SCAI), transcript variant 1, mRNA.							75.0	71.0	73.0					9																	127781214		1895	4113	6008	SO:0001583	missense	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127781214A>G	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.725T>C	9.37:g.127781214A>G	ENSP00000336756:p.Val242Ala					SCAI_uc004bpe.3_Missense_Mutation_p.V242A|SCAI_uc010mwu.3_Non-coding_Transcript	p.V265A	NM_173690	NP_775961	Q8N9R8	SCAI_HUMAN			9	916	-			242					Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	c.794T>C	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.894063	0.52121	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.45276	0.9;0.9	5.31	5.31	0.75309	.	0.396213	0.27650	N	0.018430	T	0.41190	0.1148	L	0.52573	1.65	0.46521	D	0.999083	B;B	0.32507	0.294;0.373	B;B	0.36378	0.223;0.191	T	0.24799	-1.0150	10	0.31617	T	0.26	-6.7662	14.4462	0.67352	1.0:0.0:0.0:0.0	.	242;265	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	A	242;265	ENSP00000336756:V242A;ENSP00000362650:V265A	ENSP00000336756:V242A	V	-	2	0	SCAI	126821035	1.000000	0.71417	0.987000	0.45799	0.902000	0.53008	8.599000	0.90856	2.014000	0.59158	0.459000	0.35465	GTA		0.393	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690	
LAMC3	10319	broad.mit.edu	37	9	133943586	133943586	+	Silent	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr9:133943586C>T	ENST00000361069.4	+	15	2848	c.2715C>T	c.(2713-2715)ttC>ttT	p.F905F	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	905	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACCCTGGCTTCTTCGACCTCC	0.667																																						uc004caa.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(2713-2715)ttC>ttT		Homo sapiens laminin, gamma 3 (LAMC3), mRNA.							47.0	40.0	42.0					9																	133943586		2203	4299	6502	SO:0001819	synonymous_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133943586C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2715C>T	9.37:g.133943586C>T							p.F905F	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	14	2813	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	905			Laminin EGF-like 9.		B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	c.2715C>T	CCDS6938.1																																																																																				0.667	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059	
COL5A1	1289	broad.mit.edu	37	9	137623922	137623922	+	Silent	SNP	A	A	G			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr9:137623922A>G	ENST00000371817.3	+	9	1752	c.1338A>G	c.(1336-1338)ggA>ggG	p.G446G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	446	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCAGATTGGAGGACCTCGGG	0.532																																						uc004cfe.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1336-1338)ggA>ggG		Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.							110.0	102.0	105.0					9																	137623922		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137623922A>G	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1338A>G	9.37:g.137623922A>G							p.G446G	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	8	1720	+		Myeloproliferative disorder(178;0.0341)	446			Interrupted collagenous region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.1338A>G	CCDS6982.1																																																																																				0.532	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
IL3RA	3563	broad.mit.edu	37	X	1464293	1464293	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chrX:1464293delT	ENST00000331035.4	+	3	498	c.149delT	c.(148-150)atcfs	p.I50fs	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	50					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTGACCGATATCGAGTGTGTT	0.358																																						uc004cps.3																			0				lung(1)|skin(2)	3						c.(148-150)atcfs		Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	Sargramostim(DB00020)						292.0	275.0	281.0					X																	1464293		2200	4296	6496	SO:0001589	frameshift_variant	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1464293delT	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.149delT	X.37:g.1464293delT	ENSP00000327890:p.Ile50fs					CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Intron	p.I50fs	NM_002183	NP_002174	P26951	IL3RA_HUMAN			2	498	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	50					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Frame_Shift_Del	DEL	ENST00000331035.4	37	c.149delT	CCDS14113.1																																																																																				0.358	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3		
VDAC1	7416	broad.mit.edu	37	X	80185205	80185205	+	IGR	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chrX:80185205C>T								RNU6-493P (28842 upstream) : RNU6-995P (6727 downstream)																							TACGGCCTCACGTTTACAGAG	0.473																																																									0																																																	SO:0001628	intergenic_variant	7416							g.chrX:80185205C>T																													X.37:g.80185205C>T						BRWD3 (119972 upstream) : HMGN5 (183995 downstream)																			Missense_Mutation	SNP		37																																																																																					0	0.473								
PCDH19	57526	broad.mit.edu	37	X	99662549	99662551	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chrX:99662549_99662551delCAG	ENST00000373034.4	-	1	2720_2722	c.1045_1047delCTG	c.(1045-1047)ctgdel	p.L349del	PCDH19_ENST00000420881.2_In_Frame_Del_p.L349del|PCDH19_ENST00000255531.7_In_Frame_Del_p.L349del	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	349					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGTTGACTGACAGCAGGTTGATG	0.616																																						uc010nmz.3																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(1045-1047)ctgdel		Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.																																				SO:0001651	inframe_deletion	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662549_99662551delCAG	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1045_1047delCTG	X.37:g.99662552_99662554delCAG	ENSP00000362125:p.Leu349del					PCDH19_uc004efw.4_In_Frame_Del_p.L349del|PCDH19_uc004efx.4_In_Frame_Del_p.L349del	p.L349del	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN			0	2721_2723	-			349					B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	In_Frame_Del	DEL	ENST00000373034.4	37	c.1045_1047delCTG	CCDS55462.1																																																																																				0.616	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766	
TBC1D8B	54885	broad.mit.edu	37	X	106097468	106097468	+	Missense_Mutation	SNP	G	G	A	rs202142436		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chrX:106097468G>A	ENST00000357242.5	+	14	2468	c.2294G>A	c.(2293-2295)cGc>cAc	p.R765H	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.R759H	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	765							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.R765H(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATAGTATGCGCTGTCGAAAT	0.348																																						uc004emo.3																			1	Substitution - Missense(1)	p.R765H(2)	lung(1)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2293-2295)cGc>cAc		Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.		G	HIS/ARG	0,3835		0,0,0,1632,571	91.0	74.0	80.0		2294	4.5	1.0	X		80	2,6724		0,1,1,2427,1869	no	missense	TBC1D8B	NM_017752.2	29	0,1,1,4059,2440	AA,AG,A,GG,G		0.0297,0.0,0.0189	probably-damaging	765/1121	106097468	2,10559	2203	4298	6501	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106097468G>A	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2294G>A	X.37:g.106097468G>A	ENSP00000349781:p.Arg765His					MORC4_uc004emp.4_Intron	p.R765H	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN			13	2459	+			765					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.2294G>A	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512781	0.85389	0.0	2.97E-4	ENSG00000133138	ENST00000357242;ENST00000276175	T;T	0.20069	2.12;2.1	4.52	4.52	0.55395	.	0.069432	0.64402	D	0.000011	T	0.49423	0.1556	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.58399	-0.7643	10	0.87932	D	0	-1.6123	15.2819	0.73790	0.0:0.0:1.0:0.0	.	765	Q0IIM8	TBC8B_HUMAN	H	765;759	ENSP00000349781:R765H;ENSP00000276175:R759H	ENSP00000276175:R759H	R	+	2	0	TBC1D8B	105984124	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.375000	0.97178	1.981000	0.57761	0.540000	0.68198	CGC		0.348	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752	
