#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SATL1	340562	broad.mit.edu	37	X	84363189	84363189	+	Silent	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:84363189G>A	ENST00000395409.3	-	1	785	c.225C>T	c.(223-225)atC>atT	p.I75I	SATL1_ENST00000332921.5_Silent_p.I75I|SATL1_ENST00000509231.1_Silent_p.I262I			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	75	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GGCTTGGCTGGATTATACCTG	0.433																																						ENST00000509231.1																			0				NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						c.(784-786)atC>atT		spermidine/spermine N1-acetyl transferase-like 1							344.0	277.0	300.0					X																	84363189		2203	4300	6503	SO:0001819	synonymous_variant	340562						N-acetyltransferase activity	g.chrX:84363189G>A	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.225C>T	X.37:g.84363189G>A						SATL1_ENST00000395409.3_Silent_p.I75I|SATL1_ENST00000332921.5_Silent_p.I75I	p.I262I			Q86VE3	SATL1_HUMAN			1	865	-			75			Gln-rich.		A0AVK7|E9PB72|Q5H8V9	Silent	SNP	ENST00000395409.3	37	c.786C>T																																																																																					0.433	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		7	335	0	0	0	0.038147	0	7	335				
ALPP	250	broad.mit.edu	37	2	233244328	233244328	+	Missense_Mutation	SNP	C	C	T	rs374101037		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:233244328C>T	ENST00000392027.2	+	4	684	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	139					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TGCAGCCGCCCGCTTTAACCA	0.607																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(415-417)Cgc>Tgc		alkaline phosphatase, placental		C	CYS/ARG	2,4402		0,2,2200	48.0	43.0	45.0		415	2.3	0.1	2		45	0,8554		0,0,4277	no	missense	ALPP	NM_001632.3	180	0,2,6477	TT,TC,CC		0.0,0.0454,0.0154	benign	139/536	233244328	2,12956	2202	4277	6479	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233244328C>T	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.415C>T	2.37:g.233244328C>T	ENSP00000375881:p.Arg139Cys						p.R139C	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	4	684	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	139					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.415C>T	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	7.429	0.638300	0.14386	4.54E-4	0.0	ENSG00000163283	ENST00000392027	D	0.96104	-3.91	2.31	2.31	0.28768	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.728428	0.13701	N	0.368842	D	0.93677	0.7980	M	0.84156	2.68	0.43439	D	0.995613	B	0.33637	0.42	B	0.31751	0.135	D	0.92443	0.5963	10	0.59425	D	0.04	.	4.9408	0.13965	0.2179:0.5245:0.2576:0.0	.	139	P05187	PPB1_HUMAN	C	139	ENSP00000375881:R139C	ENSP00000375881:R139C	R	+	1	0	ALPP	232952572	0.000000	0.05858	0.087000	0.20705	0.140000	0.21249	0.146000	0.16180	1.289000	0.44618	0.298000	0.19748	CGC		0.607	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		3	31	0	0	0	0.004672	0	3	31				
BEND2	139105	broad.mit.edu	37	X	18221653	18221653	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:18221653G>T	ENST00000380033.4	-	5	1007	c.875C>A	c.(874-876)gCc>gAc	p.A292D	BEND2_ENST00000380030.3_Missense_Mutation_p.A292D	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	292										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AGATGACAAGGCTCTACCTGG	0.418																																						ENST00000380033.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(874-876)gCc>gAc		BEN domain containing 2							109.0	102.0	105.0					X																	18221653		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18221653G>T	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.875C>A	X.37:g.18221653G>T	ENSP00000369372:p.Ala292Asp					BEND2_ENST00000380030.3_Missense_Mutation_p.A292D	p.A292D	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			5	1007	-			292					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.875C>A	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.494344	0.26774	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.38077	1.16;1.36	3.93	-0.196	0.13232	.	46.964800	0.00520	N	0.000199	T	0.29321	0.0730	L	0.27053	0.805	0.09310	N	1	P;B	0.47409	0.895;0.002	P;B	0.50109	0.631;0.004	T	0.17653	-1.0362	10	0.12103	T	0.63	0.8309	0.6923	0.00893	0.2365:0.1854:0.3856:0.1925	.	292;292	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	D	292	ENSP00000369372:A292D;ENSP00000369369:A292D	ENSP00000369369:A292D	A	-	2	0	BEND2	18131574	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.153000	0.10144	-0.037000	0.13646	0.436000	0.28706	GCC		0.418	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		13	210	1	0	7.03913e-09	0.093190	8.12207e-09	13	210				
ARMCX1	51309	broad.mit.edu	37	X	100808652	100808652	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:100808652G>A	ENST00000372829.3	+	4	1110	c.739G>A	c.(739-741)Ggt>Agt	p.G247S		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	247						integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						ACGTGAATTGGGTGGTGTCCC	0.388																																						ENST00000372829.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						c.(739-741)Ggt>Agt		armadillo repeat containing, X-linked 1							142.0	134.0	137.0					X																	100808652		2203	4300	6503	SO:0001583	missense	51309					integral to membrane	binding	g.chrX:100808652G>A	AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"""Armadillo repeat containing"""	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.739G>A	X.37:g.100808652G>A	ENSP00000361917:p.Gly247Ser						p.G247S	NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN			4	1110	+			247					Q53HK2|Q9H2Q0	Missense_Mutation	SNP	ENST00000372829.3	37	c.739G>A	CCDS14487.1	.	.	.	.	.	.	.	.	.	.	g	18.50	3.636680	0.67130	.	.	ENSG00000126947	ENST00000372829	T	0.49720	0.77	3.92	3.92	0.45320	Armadillo-like helical (1);Armadillo-type fold (1);	0.172525	0.49916	D	0.000122	T	0.59676	0.2211	L	0.49126	1.545	0.48341	D	0.999637	D	0.89917	1.0	D	0.91635	0.999	T	0.61879	-0.6972	10	0.72032	D	0.01	-12.9663	10.3409	0.43877	0.0:0.0:1.0:0.0	.	247	Q9P291	ARMX1_HUMAN	S	247	ENSP00000361917:G247S	ENSP00000361917:G247S	G	+	1	0	ARMCX1	100695308	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.463000	0.60128	2.198000	0.70561	0.544000	0.68410	GGT		0.388	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057561.1	NM_016608		106	198	0	0	0	0.048971	0	106	198				
CSNK1A1L	122011	broad.mit.edu	37	13	37678952	37678952	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr13:37678952G>A	ENST00000379800.3	-	1	851	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TTACAGTGACGCCCAGTACCC	0.408																																						ENST00000379800.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37						c.(442-444)Cgt>Tgt		casein kinase 1, alpha 1-like							207.0	190.0	196.0					13																	37678952		2203	4300	6503	SO:0001583	missense	122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37678952G>A	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.442C>T	13.37:g.37678952G>A	ENSP00000369126:p.Arg148Cys						p.R148C	NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	851	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	148			Protein kinase.		Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	c.442C>T	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	G	4.516	0.095806	0.08681	.	.	ENSG00000180138	ENST00000379800	T	0.20200	2.09	1.08	-1.18	0.09617	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.107353	0.64402	N	0.000011	T	0.25717	0.0626	M	0.92923	3.36	0.49798	D	0.999824	B	0.27882	0.192	B	0.23852	0.049	T	0.04017	-1.0984	10	0.72032	D	0.01	.	2.9263	0.05785	0.2049:0.0:0.5331:0.262	.	148	Q8N752	KC1AL_HUMAN	C	148	ENSP00000369126:R148C	ENSP00000369126:R148C	R	-	1	0	CSNK1A1L	36576952	0.998000	0.40836	0.682000	0.30024	0.220000	0.24768	2.267000	0.43329	-0.504000	0.06577	0.561000	0.74099	CGT		0.408	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		35	143	0	0	0	0.069456	0	35	143				
ANGPT4	51378	broad.mit.edu	37	20	861878	861878	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr20:861878C>T	ENST00000381922.3	-	5	989	c.887G>A	c.(886-888)cGc>cAc	p.R296H	ANGPT4_ENST00000546022.1_Missense_Mutation_p.R296H	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	296	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GGCCCCAGAGCGCTGGATCTC	0.562																																					Pancreas(181;481 2077 3259 31286 49856)	ENST00000381922.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(886-888)cGc>cAc		angiopoietin 4							74.0	62.0	66.0					20																	861878		2203	4300	6503	SO:0001583	missense	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:861878C>T	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.887G>A	20.37:g.861878C>T	ENSP00000371347:p.Arg296His					ANGPT4_ENST00000546022.1_Missense_Mutation_p.R296H	p.R296H	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN			5	989	-			296			Fibrinogen C-terminal.		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.887G>A	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651333	0.47362	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.13901	2.55;2.55	4.91	2.83	0.33086	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.763445	0.12106	N	0.499017	T	0.19846	0.0477	N	0.25332	0.735	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.68621	0.959;0.95	T	0.09207	-1.0685	10	0.52906	T	0.07	.	6.078	0.19925	0.1626:0.6607:0.0:0.1767	.	296;296	B4E3J9;Q9Y264	.;ANGP4_HUMAN	H	296	ENSP00000371347:R296H;ENSP00000439605:R296H	ENSP00000371347:R296H	R	-	2	0	ANGPT4	809878	0.004000	0.15560	0.943000	0.38184	0.596000	0.36781	0.564000	0.23563	1.303000	0.44873	-0.291000	0.09656	CGC		0.562	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		11	40	0	0	0	0.093190	0	11	40				
KCNH7	90134	broad.mit.edu	37	2	163693238	163693238	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:163693238C>T	ENST00000332142.5	-	2	215	c.116G>A	c.(115-117)tGt>tAt	p.C39Y	KCNH7_ENST00000328032.4_Missense_Mutation_p.C39Y	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	39					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AATGATGGCACAGTTCTGCAC	0.423																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(115-117)tGt>tAt		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						74.0	65.0	68.0					2																	163693238		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163693238C>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.116G>A	2.37:g.163693238C>T	ENSP00000331727:p.Cys39Tyr					KCNH7_ENST00000328032.4_Missense_Mutation_p.C39Y	p.C39Y	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			2	215	-			39					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.116G>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442574	0.83993	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99574	-6.2;-6.2	5.94	5.94	0.96194	PAS (2);	0.000000	0.85682	D	0.000000	D	0.99121	0.9697	L	0.33339	1.005	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.91635	0.999;0.991	D	0.97724	1.0198	10	0.02654	T	1	.	19.3514	0.94389	0.0:1.0:0.0:0.0	.	39;39	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	Y	39	ENSP00000331727:C39Y;ENSP00000333781:C39Y	ENSP00000333781:C39Y	C	-	2	0	KCNH7	163401484	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.826000	0.97356	0.561000	0.74099	TGT		0.423	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		18	60	0	0	0	0.038395	0	18	60				
MT-ND2	4536	broad.mit.edu	37	M	2623	2623	+	5'Flank	SNP	A	A	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrM:2623A>G	ENST00000361453.3	+	0	0				MT-ND1_ENST00000361390.2_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						ccttaaatagggacctgtatg	0.507																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:2623A>G			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2623A>G	Exception_encountered							NR_039705.1						0	953	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.507	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		85	204	0	0	0	0.048971	0	85	204				
GPHN	10243	broad.mit.edu	37	14	67576892	67576892	+	Silent	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr14:67576892G>A	ENST00000315266.5	+	13	2351	c.1230G>A	c.(1228-1230)cgG>cgA	p.R410R	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Silent_p.R456R|GPHN_ENST00000478722.1_Silent_p.R443R|GPHN_ENST00000305960.9_Silent_p.R379R	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	410	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AAGTCATGCGGGTTACAACAG	0.458			T	MLL	AL																																	ENST00000478722.1				Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		0				large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12						c.(1327-1329)cgG>cgA		gephyrin							201.0	169.0	180.0					14																	67576892		2203	4300	6503	SO:0001819	synonymous_variant	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67576892G>A	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1230G>A	14.37:g.67576892G>A						GPHN_ENST00000543237.1_Silent_p.R456R|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000315266.5_Silent_p.R410R|GPHN_ENST00000305960.9_Silent_p.R379R	p.R443R	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)	14	2450	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	410			MPT adenylyltransferase.		Q9H4E9|Q9P2G2	Silent	SNP	ENST00000315266.5	37	c.1329G>A	CCDS32103.1																																																																																				0.458	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		6	189	0	0	0	0.029380	0	6	189				
ATG5	9474	broad.mit.edu	37	6	106764041	106764041	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:106764041G>A	ENST00000369076.3	-	2	366	c.43C>T	c.(43-45)Cga>Tga	p.R15*	ATG5_ENST00000369070.1_De_novo_Start_OutOfFrame|ATG5_ENST00000343245.3_Nonsense_Mutation_p.R15*|ATG5_ENST00000360666.4_Nonsense_Mutation_p.R15*	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	15					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|blood vessel remodeling (GO:0001974)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative stranded viral RNA replication (GO:0039689)|otolith development (GO:0048840)|post-translational protein modification (GO:0043687)|regulation of cilium assembly (GO:1902017)|regulation of cytokine secretion involved in immune response (GO:0002739)|response to drug (GO:0042493)|response to fungus (GO:0009620)|vasodilation (GO:0042311)|ventricular cardiac muscle cell development (GO:0055015)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|membrane (GO:0016020)|pre-autophagosomal structure membrane (GO:0034045)		p.R15*(1)		endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		GTTGGAATTCGTCCAAACCAC	0.378																																						ENST00000369076.3																			1	Substitution - Nonsense(1)	p.R15*(1)	prostate(1)	endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8						c.(43-45)Cga>Tga		autophagy related 5							230.0	206.0	214.0					6																	106764041		2203	4300	6503	SO:0001587	stop_gained	9474				apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr6:106764041G>A	Y11588	CCDS5055.1, CCDS69159.1, CCDS75498.1	6q21	2014-02-12	2012-06-06	2005-09-11	ENSG00000057663	ENSG00000057663			589	protein-coding gene	gene with protein product		604261	"""APG5 (autophagy 5, S. cerevisiae)-like"", ""APG5 autophagy 5-like (S. cerevisiae)"", ""ATG5 autophagy related 5 homolog (S. cerevisiae)"""	APG5L		9563500, 11349150, 15778222	Standard	NM_001286111		Approved	ASP, APG5, hAPG5	uc003prf.3	Q9H1Y0	OTTHUMG00000016193	ENST00000369076.3:c.43C>T	6.37:g.106764041G>A	ENSP00000358072:p.Arg15*					ATG5_ENST00000343245.3_Nonsense_Mutation_p.R15*|ATG5_ENST00000369070.1_De_novo_Start_OutOfFrame|ATG5_ENST00000360666.4_Nonsense_Mutation_p.R15*	p.R15*	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)	2	366	-	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	15					O60875|Q5JVR2|Q68DI4|Q9H2B8|Q9HCZ7	Nonsense_Mutation	SNP	ENST00000369076.3	37	c.43C>T	CCDS5055.1	.	.	.	.	.	.	.	.	.	.	G	38	7.257072	0.98168	.	.	ENSG00000057663	ENST00000369076;ENST00000343245;ENST00000360666	.	.	.	5.15	4.28	0.50868	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	5.4776	13.7184	0.62712	0.0748:0.0:0.9252:0.0	.	.	.	.	X	15	.	ENSP00000343313:R15X	R	-	1	2	ATG5	106870734	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.457000	0.80775	1.159000	0.42565	0.655000	0.94253	CGA		0.378	ATG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043476.1	NM_004849		73	141	0	0	0	0.048971	0	73	141				
AOC1	26	broad.mit.edu	37	7	150554515	150554515	+	Silent	SNP	C	C	T	rs565010501		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr7:150554515C>T	ENST00000493429.1	+	4	1541	c.957C>T	c.(955-957)taC>taT	p.Y319Y	AOC1_ENST00000467291.1_Silent_p.Y319Y|AOC1_ENST00000416793.2_Silent_p.Y319Y|AOC1_ENST00000360937.4_Silent_p.Y319Y			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	319					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CTGTGCTCTACGGCGGCTGGA	0.692													C|||	1	0.000199681	0.0	0.0	5008	,	,		16435	0.0		0.0	False		,,,				2504	0.001					ENST00000493429.1																			0											c.(955-957)taC>taT		amine oxidase, copper containing 1							17.0	21.0	20.0					7																	150554515		2143	4241	6384	SO:0001819	synonymous_variant	26							g.chr7:150554515C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.957C>T	7.37:g.150554515C>T						AOC1_ENST00000360937.4_Silent_p.Y319Y|AOC1_ENST00000467291.1_Silent_p.Y319Y|AOC1_ENST00000416793.2_Silent_p.Y319Y	p.Y319Y							4	1541	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	c.957C>T	CCDS43679.1																																																																																				0.692	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		5	5	0	0	0	0.069234	0	5	5				
RSPH4A	345895	broad.mit.edu	37	6	116938227	116938227	+	Silent	SNP	A	A	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:116938227A>G	ENST00000229554.5	+	1	578	c.441A>G	c.(439-441)ggA>ggG	p.G147G	RSPH4A_ENST00000368581.4_Silent_p.G147G|RSPH4A_ENST00000368580.4_Silent_p.G147G	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	147					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTCAGAAGGAAACACCTTTC	0.458									Kartagener syndrome																													ENST00000229554.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(439-441)ggA>ggG		radial spoke head 4 homolog A (Chlamydomonas)							123.0	123.0	123.0					6																	116938227		2203	4300	6503	SO:0001819	synonymous_variant	345895	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116938227A>G		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.441A>G	6.37:g.116938227A>G						RSPH4A_ENST00000368581.4_Silent_p.G147G|RSPH4A_ENST00000368580.4_Silent_p.G147G	p.G147G	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN			1	578	+			147					B4DSI1|Q3KP24|Q5TD95	Silent	SNP	ENST00000229554.5	37	c.441A>G	CCDS34521.1																																																																																				0.458	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		45	68	0	0	0	0.048971	0	45	68				
HOOK1	51361	broad.mit.edu	37	1	60314160	60314160	+	Missense_Mutation	SNP	G	G	A	rs143143349		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:60314160G>A	ENST00000371208.3	+	11	1360	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.R326H	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	368	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AATGCAGCACGTACACAATTA	0.308													G|||	1	0.000199681	0.0	0.0	5008	,	,		18313	0.001		0.0	False		,,,				2504	0.0					ENST00000371208.3																			0				biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29						c.(1102-1104)cGt>cAt		hook microtubule-tethering protein 1		G	HIS/ARG	0,4406		0,0,2203	68.0	72.0	71.0		1103	5.9	1.0	1	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense	HOOK1	NM_015888.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	368/729	60314160	1,13005	2203	4300	6503	SO:0001583	missense	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60314160G>A	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1103G>A	1.37:g.60314160G>A	ENSP00000360252:p.Arg368His					HOOK1_ENST00000395561.2_Missense_Mutation_p.R326H|HOOK1_ENST00000465876.1_3'UTR	p.R368H	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN			11	1360	+	all_cancers(7;0.000129)		368			Sufficient for interaction with microtubules.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	c.1103G>A	CCDS612.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	28.2	4.903201	0.92035	0.0	1.16E-4	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.24538	1.85;1.85	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.51568	0.1682	M	0.74258	2.255	0.80722	D	1	D	0.69078	0.997	P	0.60886	0.88	T	0.50180	-0.8858	10	0.66056	D	0.02	.	20.2956	0.98549	0.0:0.0:1.0:0.0	.	368	Q9UJC3	HOOK1_HUMAN	H	368;326	ENSP00000360252:R368H;ENSP00000378928:R326H	ENSP00000360252:R368H	R	+	2	0	HOOK1	60086748	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	7.353000	0.79414	2.805000	0.96524	0.460000	0.39030	CGT		0.308	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		42	20	0	0	0	0.042209	0	42	20				
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		610	Substitution - Missense(609)|Complex(1)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)Caa>Aaa		neuroblastoma RAS viral (v-ras) oncogene homolog							180.0	156.0	164.0					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256530G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61K	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	434	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.181C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		87	47	1	0	1.53041e-28	0.048971	1.82192e-28	87	47				
DNAH8	1769	broad.mit.edu	37	6	38980113	38980113	+	Silent	SNP	G	G	A	rs577421218	byFrequency	TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:38980113G>A	ENST00000359357.3	+	88	13097	c.12843G>A	c.(12841-12843)ttG>ttA	p.L4281L	DNAH8_ENST00000441566.1_Silent_p.L4245L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4281					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(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATCTAAAATTGGCCATTGAAG	0.348																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(12841-12843)ttG>ttA		dynein, axonemal, heavy chain 8							185.0	171.0	176.0					6																	38980113		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38980113G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12843G>A	6.37:g.38980113G>A						DNAH8_ENST00000441566.1_Silent_p.L4245L	p.L4281L							88	13097	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.12843G>A																																																																																					0.348	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		47	90	0	0	0	0.048971	0	47	90				
MT-CO3	4514	broad.mit.edu	37	M	9264	9264	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrM:9264G>A	ENST00000362079.2	+	1	58	c.58G>A	c.(58-60)Ggg>Agg	p.G20R	MT-TH_ENST00000387441.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank			P00414	COX3_HUMAN	mitochondrially encoded cytochrome c oxidase III	20					aerobic electron transport chain (GO:0019646)|cellular metabolic process (GO:0044237)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						GACCCCTAACAGGGGCCCTCT	0.488																																						ENST00000362079.2																			0				breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						c.(58-60)Ggg>Agg		mitochondrially encoded cytochrome c oxidase III																																				SO:0001583	missense	4514							g.chrM:9264G>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198938	ENSG00000198938		"""Mitochondrial respiratory chain complex / Complex IV"""	7422	protein-coding gene	gene with protein product		516050	"""cytochrome c oxidase III"""	MTCO3			Standard			Approved	COX3, COIII, CO3		P00414		ENST00000362079.2:c.58G>A	M.37:g.9264G>A	ENSP00000354982:p.Gly20Arg						p.20_20insR							1	58	+								Q14Y83	Missense_Mutation	SNP	ENST00000362079.2	37	c.58G>A																																																																																					0.488	MT-CO3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024032		9	377	0	0	0	0.047766	0	9	377				
DNAH5	1767	broad.mit.edu	37	5	13719099	13719099	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:13719099T>C	ENST00000265104.4	-	72	12495	c.12391A>G	c.(12391-12393)Acc>Gcc	p.T4131A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4131	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCTCGGTGGTCATCCAGAGG	0.473									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(12391-12393)Acc>Gcc		dynein, axonemal, heavy chain 5							144.0	141.0	142.0					5																	13719099		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13719099T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12391A>G	5.37:g.13719099T>C	ENSP00000265104:p.Thr4131Ala						p.T4131A	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			72	12495	-	Lung NSC(4;0.00476)		4131			AAA 6 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.12391A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.412825	0.62511	.	.	ENSG00000039139	ENST00000265104	T	0.12039	2.72	5.59	5.59	0.84812	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.58018	0.2093	H	0.99117	4.435	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.77127	-0.2702	10	0.62326	D	0.03	.	15.782	0.78267	0.0:0.0:0.0:1.0	.	4131	Q8TE73	DYH5_HUMAN	A	4131	ENSP00000265104:T4131A	ENSP00000265104:T4131A	T	-	1	0	DNAH5	13772099	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	7.928000	0.87587	2.122000	0.65172	0.528000	0.53228	ACC		0.473	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		54	86	0	0	0	0.048971	0	54	86				
NPSR1	387129	broad.mit.edu	37	7	34889257	34889257	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr7:34889257A>G	ENST00000360581.1	+	9	1234	c.1106A>G	c.(1105-1107)gAa>gGa	p.E369G	NPSR1_ENST00000531252.1_Intron|NPSR1_ENST00000381542.1_Missense_Mutation_p.E303G|NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000381539.3_3'UTR	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	369						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TCCAAGCCAGAATTCATCTAG	0.527																																						ENST00000360581.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31						c.(1105-1107)gAa>gGa		neuropeptide S receptor 1	Halothane(DB01159)						107.0	92.0	97.0					7																	34889257		2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34889257A>G	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.1106A>G	7.37:g.34889257A>G	ENSP00000353788:p.Glu369Gly					NPSR1_ENST00000531252.1_Intron|NPSR1_ENST00000381539.3_3'UTR|NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000381542.1_Missense_Mutation_p.E303G	p.E369G	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN			9	1234	+			369					A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	c.1106A>G	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.962978	0.53507	.	.	ENSG00000187258	ENST00000360581;ENST00000381542;ENST00000334481	T;T	0.76448	-0.86;-1.02	5.24	5.24	0.73138	.	.	.	.	.	D	0.84192	0.5418	L	0.45581	1.43	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.979	D	0.85704	0.1315	9	0.72032	D	0.01	.	14.4679	0.67497	1.0:0.0:0.0:0.0	.	303;369	Q6W5P4-2;Q6W5P4	.;NPSR1_HUMAN	G	369;303;172	ENSP00000353788:E369G;ENSP00000370953:E303G	ENSP00000334093:E172G	E	+	2	0	NPSR1	34855782	1.000000	0.71417	1.000000	0.80357	0.076000	0.17211	5.863000	0.69568	2.203000	0.70933	0.454000	0.30748	GAA		0.527	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		3	88	0	0	0	0.009096	0	3	88				
FAM50B	26240	broad.mit.edu	37	6	3850199	3850199	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:3850199C>T	ENST00000380274.1	+	1	580	c.154C>T	c.(154-156)Cat>Tat	p.H52Y	FAM50B_ENST00000380272.3_Missense_Mutation_p.H52Y			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	52						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GTTCTCGGCGCATTACGACGC	0.647																																						ENST00000380274.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(154-156)Cat>Tat		family with sequence similarity 50, member B							56.0	51.0	53.0					6																	3850199		2203	4300	6503	SO:0001583	missense	26240					nucleus		g.chr6:3850199C>T	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.154C>T	6.37:g.3850199C>T	ENSP00000369627:p.His52Tyr					FAM50B_ENST00000380272.3_Missense_Mutation_p.H52Y	p.H52Y			Q9Y247	FA50B_HUMAN			1	580	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	52					Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	c.154C>T	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096882	0.76870	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.16	4.16	0.48862	.	0.123433	0.53938	U	0.000060	T	0.70954	0.3283	M	0.79258	2.445	0.47698	D	0.999493	D	0.69078	0.997	P	0.61201	0.885	T	0.75396	-0.3332	9	0.62326	D	0.03	-35.8068	14.3485	0.66682	0.0:1.0:0.0:0.0	.	52	Q9Y247	FA50B_HUMAN	Y	52	.	ENSP00000369625:H52Y	H	+	1	0	FAM50B	3795198	1.000000	0.71417	0.743000	0.31040	0.476000	0.33039	6.410000	0.73294	2.311000	0.77944	0.561000	0.74099	CAT		0.647	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		11	19	0	0	0	0.093190	0	11	19				
INO80B	83444	broad.mit.edu	37	2	74682279	74682279	+	Silent	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:74682279G>A	ENST00000233331.7	+	1	130	c.36G>A	c.(34-36)ggG>ggA	p.G12G	INO80B_ENST00000409917.1_Silent_p.G12G|INO80B_ENST00000469849.1_3'UTR	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	12					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GCACCTCTGGGGCTATGGAGG	0.572																																						ENST00000233331.7																			0				endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						c.(34-36)ggG>ggA		INO80 complex subunit B							79.0	85.0	83.0					2																	74682279		2203	4300	6503	SO:0001819	synonymous_variant	83444				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding	g.chr2:74682279G>A	AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"""Zinc fingers, HIT-type"", ""INO80 complex subunits"""	13324	protein-coding gene	gene with protein product	"""PAP-1 binding protein"", ""IES2 homolog (S. cerevisiae)"""		"""high mobility group AT-hook 1-like 4"", ""zinc finger, HIT type 4"""	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.36G>A	2.37:g.74682279G>A						INO80B_ENST00000469849.1_3'UTR|INO80B_ENST00000409917.1_Silent_p.G12G	p.G12G	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN			1	130	+			12						Silent	SNP	ENST00000233331.7	37	c.36G>A	CCDS1942.2																																																																																				0.572	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	NM_031288		34	115	0	0	0	0.069456	0	34	115				
ESPNP	284729	broad.mit.edu	37	1	17026466	17026466	+	RNA	SNP	C	C	T	rs114606754	byFrequency	TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:17026466C>T	ENST00000492551.1	-	0	1219					NR_026567.1				espin pseudogene																		GCGGGGCTTGCGGCTGGAGTC	0.736																																						ENST00000492551.1																			0																																																			0							g.chr1:17026466C>T	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17026466C>T								NR_026567.1						0	1219	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.736	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			3	7	0	0	0	0.004672	0	3	7				
ATP2B2	491	broad.mit.edu	37	3	10381974	10381974	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr3:10381974C>A	ENST00000352432.4	-	20	3258	c.3189G>T	c.(3187-3189)caG>caT	p.Q1063H	ATP2B2_ENST00000383800.4_Missense_Mutation_p.Q1018H|ATP2B2_ENST00000360273.2_Missense_Mutation_p.Q1063H|ATP2B2_ENST00000343816.4_Missense_Mutation_p.Q1049H|ATP2B2_ENST00000397077.1_Missense_Mutation_p.Q1018H			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1063					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACCACATCCACTGGTCCAGCT	0.557																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(3052-3054)caG>caT		ATPase, Ca++ transporting, plasma membrane 2							97.0	86.0	90.0					3																	10381974		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10381974C>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.3189G>T	3.37:g.10381974C>A	ENSP00000324172:p.Gln1063His					ATP2B2_ENST00000360273.2_Missense_Mutation_p.Q1063H|ATP2B2_ENST00000352432.4_Missense_Mutation_p.Q1063H|ATP2B2_ENST00000343816.4_Missense_Mutation_p.Q1049H|ATP2B2_ENST00000383800.4_Missense_Mutation_p.Q1018H	p.Q1018H			Q01814	AT2B2_HUMAN			20	3629	-			1063					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.3054G>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.603712	0.66445	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000429937;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48	4.18	4.18	0.49190	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.057523	0.64402	D	0.000001	D	0.91229	0.7236	M	0.90595	3.13	0.58432	D	0.99999	P;B;P	0.46220	0.874;0.283;0.85	B;B;P	0.46940	0.444;0.292;0.532	D	0.91858	0.5497	10	0.87932	D	0	-12.7059	7.9285	0.29889	0.0:0.815:0.0:0.185	.	998;1030;1063	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	H	1063;1018;1018;1063;1049;998;252;919;1063	ENSP00000324172:Q1063H;ENSP00000373311:Q1018H;ENSP00000380267:Q1018H;ENSP00000353414:Q1063H;ENSP00000344677:Q1049H;ENSP00000414854:Q919H	ENSP00000342954:Q1063H	Q	-	3	2	ATP2B2	10356974	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.373000	0.44266	1.881000	0.54492	0.563000	0.77884	CAG		0.557	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		4	67	1	0	0.00024832	0.009096	0.00027797	4	67				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			32	62	0	0	0	0.069456	0	32	62				
TTLL5	23093	broad.mit.edu	37	14	76349031	76349031	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr14:76349031A>G	ENST00000298832.9	+	30	3731	c.3526A>G	c.(3526-3528)Atc>Gtc	p.I1176V	TTLL5_ENST00000554510.1_Missense_Mutation_p.I685V|TTLL5_ENST00000556893.1_Missense_Mutation_p.I727V|TTLL5_ENST00000557636.1_Missense_Mutation_p.I1191V	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1176					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTTGTAGGCAATCTTTGGCAG	0.413																																						ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(3526-3528)Atc>Gtc		tubulin tyrosine ligase-like family, member 5							52.0	54.0	54.0					14																	76349031		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76349031A>G	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.3526A>G	14.37:g.76349031A>G	ENSP00000298832:p.Ile1176Val					TTLL5_ENST00000554510.1_Missense_Mutation_p.I685V|TTLL5_ENST00000557636.1_Missense_Mutation_p.I1191V|TTLL5_ENST00000556893.1_Missense_Mutation_p.I727V	p.I1176V	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	30	3731	+			1176					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.3526A>G	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	A	5.850	0.341076	0.11069	.	.	ENSG00000119685	ENST00000286653;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.22539	4.05;4.13;1.95;1.95	5.7	4.49	0.54785	.	0.417082	0.24377	N	0.039055	T	0.10809	0.0264	L	0.27053	0.805	0.20074	N	0.999936	B;B;B;B	0.10296	0.001;0.003;0.001;0.0	B;B;B;B	0.14578	0.002;0.011;0.002;0.0	T	0.23904	-1.0175	10	0.15952	T	0.53	.	1.8212	0.03111	0.5287:0.1435:0.0806:0.2472	.	1191;250;727;1176	G3V2J9;F8W7N3;Q6EMB2-2;Q6EMB2	.;.;.;TTLL5_HUMAN	V	250;1191;1176;727;727;685	ENSP00000450713:I1191V;ENSP00000298832:I1176V;ENSP00000452524:I727V;ENSP00000451946:I685V	ENSP00000286653:I250V	I	+	1	0	TTLL5	75418784	0.729000	0.28090	0.936000	0.37596	0.199000	0.23934	1.199000	0.32235	2.178000	0.69098	0.533000	0.62120	ATC		0.413	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		40	37	0	0	0	0.048971	0	40	37				
TAF9B	51616	broad.mit.edu	37	X	77394339	77394339	+	Splice_Site	SNP	C	C	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:77394339C>T	ENST00000341864.5	-	2	228		c.e2+1			NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa						DNA-templated transcription, initiation (GO:0006352)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell growth (GO:0030307)|programmed cell death (GO:0012501)|protein stabilization (GO:0050821)|response to organic cyclic compound (GO:0014070)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						CATTAACTTACGGAAAGCAAA	0.328																																						ENST00000341864.5																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						c.e2+1		TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa							126.0	119.0	122.0					X																	77394339		2203	4296	6499	SO:0001630	splice_region_variant	51616				negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding	g.chrX:77394339C>T	AF220509	CCDS35340.1	Xq13.1-q21.1	2010-08-16	2006-01-04	2006-01-04	ENSG00000187325	ENSG00000187325			17306	protein-coding gene	gene with protein product		300754	"""TAF9-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa"""	TAF9L		15899866	Standard	XM_005262142		Approved	TAFII31L, DN-7, DN7, TFIID-31	uc004eda.3	Q9HBM6	OTTHUMG00000021887	ENST00000341864.5:c.133+1G>A	X.37:g.77394339C>T								NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN			2	228	-								B2RUZ9|Q9Y2S3	Splice_Site	SNP	ENST00000341864.5	37		CCDS35340.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671291	0.67814	.	.	ENSG00000187325	ENST00000341864	.	.	.	4.15	4.15	0.48705	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9199	0.58226	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TAF9B	77280995	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.879000	0.75572	1.898000	0.54952	0.513000	0.50165	.		0.328	TAF9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057308.1	NM_015975	Intron	44	72	0	0	0	0.042209	0	44	72				
ACTN3	89	broad.mit.edu	37	11	66323638	66323638	+	lincRNA	SNP	G	G	A	rs371024898		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr11:66323638G>A	ENST00000504911.1	-	0	1160				ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA																							CCCCAAAGCCGGATGAGAAGG	0.602																																						ENST00000502692.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)		G		0,4394		0,0,2197	150.0	155.0	153.0		741	-8.9	0.9	11		153	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous	ACTN3	NM_001104.1		0,2,6490	AA,AG,GG		0.0233,0.0,0.0154		247/902	66323638	2,12982	2197	4295	6492			89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66323638G>A																													11.37:g.66323638G>A						ACTN3_ENST00000513398.1_RNA		NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN			0	986	+									RNA	SNP	ENST00000504911.1	37																																																																																						0.602	CTD-3074O7.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000362463.1			47	100	0	0	0	0.048971	0	47	100				
TMEM255A	55026	broad.mit.edu	37	X	119410865	119410865	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:119410865C>T	ENST00000309720.5	-	8	745	c.622G>A	c.(622-624)Gat>Aat	p.D208N	TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371369.4_Missense_Mutation_p.D184N|TMEM255A_ENST00000371352.1_Missense_Mutation_p.D44N	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	208						integral component of membrane (GO:0016021)											CTGCTGACATCGATGTATTCG	0.587																																						ENST00000371369.4																			0											c.(550-552)Gat>Aat		transmembrane protein 255A							266.0	192.0	217.0					X																	119410865		2203	4300	6503	SO:0001583	missense	55026							g.chrX:119410865C>T	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.622G>A	X.37:g.119410865C>T	ENSP00000310110:p.Asp208Asn					TMEM255A_ENST00000309720.5_Missense_Mutation_p.D208N|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Missense_Mutation_p.D44N	p.D184N	NM_001104544.1	NP_001098014.1					7	776	-								A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Missense_Mutation	SNP	ENST00000309720.5	37	c.550G>A	CCDS14597.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003398	0.93287	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000371352	T;T;T	0.47177	0.85;0.85;0.85	5.27	5.27	0.74061	.	0.096735	0.64402	D	0.000001	T	0.62648	0.2445	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	0.976;1.0	B;D	0.72625	0.438;0.978	T	0.63795	-0.6556	10	0.52906	T	0.07	-12.3303	16.7868	0.85576	0.0:1.0:0.0:0.0	.	184;208	B1APR4;Q5JRV8	.;FA70A_HUMAN	N	208;184;44	ENSP00000310110:D208N;ENSP00000360420:D184N;ENSP00000360403:D44N	ENSP00000310110:D208N	D	-	1	0	FAM70A	119294893	1.000000	0.71417	0.499000	0.27577	0.985000	0.73830	7.487000	0.81328	2.168000	0.68352	0.594000	0.82650	GAT		0.587	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		5	197	0	0	0	0.021553	0	5	197				
PCSK6	5046	broad.mit.edu	37	15	101929754	101929754	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr15:101929754G>A	ENST00000348070.1	-	10	1221	c.1222C>T	c.(1222-1224)Cgt>Tgt	p.R408C	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.R408C|PCSK6_ENST00000331826.7_Missense_Mutation_p.R243C|PCSK6_ENST00000344273.2_Missense_Mutation_p.R408C|PCSK6_ENST00000398181.2_Missense_Mutation_p.R408C	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	409	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGCGCTGACGCAGATCCGTG	0.582																																						ENST00000348070.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1222-1224)Cgt>Tgt		proprotein convertase subtilisin/kexin type 6							65.0	72.0	70.0					15																	101929754		2145	4247	6392	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101929754G>A		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1222C>T	15.37:g.101929754G>A	ENSP00000305056:p.Arg408Cys					PCSK6_ENST00000398181.2_Missense_Mutation_p.R408C|PCSK6_ENST00000358417.3_Missense_Mutation_p.R408C|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Missense_Mutation_p.R408C|PCSK6_ENST00000331826.7_Missense_Mutation_p.R243C	p.R408C	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		10	1221	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		409			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.1222C>T		.	.	.	.	.	.	.	.	.	.	G	19.90	3.912938	0.72983	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	D;D;D;D;D;D	0.81659	-1.5;-1.5;-1.52;-1.5;-1.5;-1.5	5.74	5.74	0.90152	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.109261	0.64402	D	0.000011	D	0.91865	0.7425	M	0.93594	3.435	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;P;D;D	0.87578	0.998;0.896;0.978;0.99;0.994;0.99;0.897;0.996;0.997	D	0.93062	0.6475	10	0.62326	D	0.03	-23.5356	13.8251	0.63346	0.0:0.0:0.8472:0.1528	.	409;314;408;409;408;408;409;409;408	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	C	408;408;313;408;408;243	ENSP00000305056:R408C;ENSP00000351193:R408C;ENSP00000381246:R313C;ENSP00000344410:R408C;ENSP00000381243:R408C;ENSP00000332052:R243C	ENSP00000332052:R243C	R	-	1	0	PCSK6	99747277	0.912000	0.30974	0.993000	0.49108	0.932000	0.56968	1.187000	0.32090	2.702000	0.92279	0.655000	0.94253	CGT		0.582	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		38	57	0	0	0	0.111260	0	38	57				
NEU1	4758	broad.mit.edu	37	6	31830546	31830546	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:31830546C>A	ENST00000375631.4	-	1	137	c.8G>T	c.(7-9)gGg>gTg	p.G3V		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	3					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	GGGTCGCTCCCCAGTCATCTC	0.647																																						ENST00000375631.4																			0				kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10	GRCh37	CI972650	NEU1	I		c.(7-9)gGg>gTg		sialidase 1 (lysosomal sialidase)	Oseltamivir(DB00198)|Zanamivir(DB00558)						34.0	30.0	31.0					6																	31830546		1510	2708	4218	SO:0001583	missense	4758					cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding	g.chr6:31830546C>A	AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.8G>T	6.37:g.31830546C>A	ENSP00000364782:p.Gly3Val						p.G3V	NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN			1	137	-			3						Missense_Mutation	SNP	ENST00000375631.4	37	c.8G>T	CCDS4723.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387112	0.25031	.	.	ENSG00000204386	ENST00000375631	D	0.89050	-2.46	4.96	-1.74	0.08056	.	1.191430	0.06005	N	0.648590	T	0.60919	0.2306	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48990	-0.8985	10	0.46703	T	0.11	-4.1466	0.6924	0.00893	0.2551:0.218:0.3204:0.2064	.	3;3	E9PIF4;Q99519	.;NEUR1_HUMAN	V	3	ENSP00000364782:G3V	ENSP00000364782:G3V	G	-	2	0	NEU1	31938525	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.639000	0.05446	-0.141000	0.11374	0.591000	0.81541	GGG		0.647	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076616.2			5	20	1	0	4.096e-09	0.021553	4.8e-09	5	20				
DNAH5	1767	broad.mit.edu	37	5	13841810	13841810	+	Silent	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:13841810G>A	ENST00000265104.4	-	33	5579	c.5475C>T	c.(5473-5475)ttC>ttT	p.F1825F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1825	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTGAGCAGGGAAGGATGAAA	0.358									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(5473-5475)ttC>ttT		dynein, axonemal, heavy chain 5							79.0	78.0	78.0					5																	13841810		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13841810G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5475C>T	5.37:g.13841810G>A							p.F1825F	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			33	5579	-	Lung NSC(4;0.00476)		1825			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.5475C>T	CCDS3882.1																																																																																				0.358	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		7	62	0	0	0	0.029380	0	7	62				
POTEH	23784	broad.mit.edu	37	22	16287514	16287514	+	Silent	SNP	G	G	A	rs566364504		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr22:16287514G>A	ENST00000343518.6	-	1	423	c.372C>T	c.(370-372)gaC>gaT	p.D124D		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	124										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TAGCAGAGTCGTCGTGGTCTC	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		22731	0.001		0.0	False		,,,				2504	0.0					ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(370-372)gaC>gaT		POTE ankyrin domain family, member H																																				SO:0001819	synonymous_variant	23784							g.chr22:16287514G>A	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.372C>T	22.37:g.16287514G>A							p.D124D	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	423	-			124					A2CEK4|A6NCI1|A9Z1W0	Silent	SNP	ENST00000343518.6	37	c.372C>T	CCDS46658.1																																																																																				0.607	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		40	363	0	0	0	0.048971	0	40	363				
FAM83A	84985	broad.mit.edu	37	8	124219482	124219482	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr8:124219482C>T	ENST00000518448.1	+	5	2873	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C	FAM83A_ENST00000318462.6_Missense_Mutation_p.R287C|FAM83A_ENST00000546351.1_Missense_Mutation_p.R231C|FAM83A_ENST00000522648.1_Missense_Mutation_p.R231C|FAM83A_ENST00000276699.6_Missense_Mutation_p.R287C|FAM83A_ENST00000536633.1_Missense_Mutation_p.R287C			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	287										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CGAGGAGTTCCGCCACCTCTA	0.672																																						ENST00000518448.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17						c.(859-861)Cgc>Tgc		family with sequence similarity 83, member A							32.0	28.0	29.0					8																	124219482		2203	4300	6503	SO:0001583	missense	84985							g.chr8:124219482C>T	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.859C>T	8.37:g.124219482C>T	ENSP00000428876:p.Arg287Cys					FAM83A_ENST00000536633.1_Missense_Mutation_p.R287C|FAM83A_ENST00000522648.1_Missense_Mutation_p.R231C|FAM83A_ENST00000318462.6_Missense_Mutation_p.R287C|FAM83A_ENST00000276699.6_Missense_Mutation_p.R287C|FAM83A_ENST00000546351.1_Missense_Mutation_p.R231C	p.R287C			Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		5	2873	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		287					Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	37	c.859C>T	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146953	0.77888	.	.	ENSG00000147689	ENST00000518448;ENST00000546351;ENST00000536633;ENST00000318462;ENST00000522648;ENST00000276699	T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32	4.85	2.04	0.26737	.	0.066845	0.64402	D	0.000019	T	0.41328	0.1154	M	0.88377	2.95	0.80722	D	1	B;D;D	0.89917	0.427;1.0;1.0	B;D;D	0.87578	0.067;0.992;0.998	T	0.16660	-1.0395	10	0.87932	D	0	-18.359	5.4642	0.16634	0.1381:0.6375:0.0:0.2244	.	231;287;287	Q86UY5-2;Q86UY5-3;Q86UY5	.;.;FA83A_HUMAN	C	287;231;287;287;231;287	ENSP00000428876:R287C;ENSP00000440565:R231C;ENSP00000445218:R287C;ENSP00000323034:R287C;ENSP00000427979:R231C;ENSP00000276699:R287C	ENSP00000276699:R287C	R	+	1	0	FAM83A	124288663	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.958000	0.29227	0.200000	0.20447	0.436000	0.28706	CGC		0.672	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		11	15	0	0	0	0.093190	0	11	15				
SLC12A7	10723	broad.mit.edu	37	5	1075520	1075520	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:1075520C>A	ENST00000264930.5	-	15	1976	c.1933G>T	c.(1933-1935)Gct>Tct	p.A645S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	645					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ATGCAGCCAGCGATGAGCATG	0.637																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(1933-1935)Gct>Tct		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						64.0	58.0	60.0					5																	1075520		2202	4300	6502	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1075520C>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1933G>T	5.37:g.1075520C>A	ENSP00000264930:p.Ala645Ser						p.A645S	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		15	1976	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		645					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.1933G>T	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.039426	0.75617	.	.	ENSG00000113504	ENST00000264930	D	0.98777	-5.13	4.27	4.27	0.50696	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99086	0.9686	M	0.87758	2.905	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	D	0.99246	1.0886	10	0.66056	D	0.02	.	14.5317	0.67931	0.0:1.0:0.0:0.0	.	645	Q9Y666	S12A7_HUMAN	S	645	ENSP00000264930:A645S	ENSP00000264930:A645S	A	-	1	0	SLC12A7	1128520	1.000000	0.71417	0.978000	0.43139	0.325000	0.28411	6.946000	0.75953	2.084000	0.62774	0.491000	0.48974	GCT		0.637	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		3	34	1	0	0.004672	0.004672	0.00493521	3	34				
C2	717	broad.mit.edu	37	6	31913064	31913064	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:31913064T>G	ENST00000299367.5	+	18	2465	c.2189T>G	c.(2188-2190)aTc>aGc	p.I730S	CFB_ENST00000556679.1_Intron|C2_ENST00000468407.1_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.I598S|CFB_ENST00000456570.1_Intron|CFB_ENST00000425368.2_5'Flank|C2_ENST00000469372.1_Missense_Mutation_p.I484S|C2_ENST00000452323.2_Missense_Mutation_p.I516S	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	730	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GACTTTCACATCAATCTCTTC	0.592																																						ENST00000299367.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27						c.(2188-2190)aTc>aGc		complement component 2							85.0	89.0	87.0					6																	31913064		1511	2709	4220	SO:0001583	missense	717							g.chr6:31913064T>G		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.2189T>G	6.37:g.31913064T>G	ENSP00000299367:p.Ile730Ser					C2_ENST00000469372.1_Missense_Mutation_p.I484S|CFB_ENST00000477310.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.I598S|CFB_ENST00000556679.1_Intron|C2_ENST00000468407.1_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000452323.2_Missense_Mutation_p.I516S	p.I730S	NM_000063.4	NP_000054.2				LUAD - Lung adenocarcinoma(999;0.247)	18	2465	+		Ovarian(999;0.00965)						B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.2189T>G	CCDS4728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.72|16.72	3.202548|3.202548	0.58234|0.58234	.|.	.|.	ENSG00000166278|ENSG00000166278	ENST00000469372;ENST00000452323;ENST00000299367;ENST00000442278|ENST00000383177	T;T;T;T|.	0.29397|.	1.57;1.57;1.57;1.57|.	5.83|5.83	5.83|5.83	0.93111|0.93111	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);|.	0.000000|.	0.39985|.	N|.	0.001213|.	T|T	0.64034|0.64034	0.2562|0.2562	M|M	0.66378|0.66378	2.025|2.025	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.76494|.	0.996;0.999;0.996;0.998;0.998;0.992|.	P;P;P;P;P;P|.	0.61070|.	0.756;0.883;0.756;0.853;0.853;0.708|.	T|T	0.65307|0.65307	-0.6200|-0.6200	10|5	0.87932|.	D|.	0|.	-16.0149|-16.0149	14.1443|14.1443	0.65339|0.65339	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	701;516;484;598;598;730|.	B4DV48;B4DPF3;B4DQI1;E9PFN7;B4DV20;P06681|.	.;.;.;.;.;CO2_HUMAN|.	S|A	484;516;730;598|504	ENSP00000418923:I484S;ENSP00000392322:I516S;ENSP00000299367:I730S;ENSP00000395683:I598S|.	ENSP00000299367:I730S|.	I|S	+|+	2|1	0|0	C2|C2	32021043|32021043	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.218000|0.218000	0.24690|0.24690	3.643000|3.643000	0.54374|0.54374	2.232000|2.232000	0.73038|0.73038	0.402000|0.402000	0.26972|0.26972	ATC|TCA		0.592	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			44	81	0	0	0	0.048971	0	44	81				
ZNF483	158399	broad.mit.edu	37	9	114304161	114304161	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr9:114304161G>A	ENST00000309235.5	+	6	1104	c.946G>A	c.(946-948)Gac>Aac	p.D316N	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	316					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AGAAACTTCAGACTTAATTAA	0.398																																						ENST00000309235.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						c.(946-948)Gac>Aac		zinc finger protein 483							97.0	109.0	105.0					9																	114304161		2203	4300	6503	SO:0001583	missense	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114304161G>A	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.946G>A	9.37:g.114304161G>A	ENSP00000311679:p.Asp316Asn					ZNF483_ENST00000358151.4_Intron	p.D316N	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN			6	1104	+			316					Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	c.946G>A	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	G	7.213	0.595823	0.13875	.	.	ENSG00000173258	ENST00000309235	T	0.05025	3.51	4.32	3.42	0.39159	.	0.835215	0.10261	N	0.695998	T	0.03434	0.0099	N	0.11255	0.115	0.09310	N	0.999998	B	0.10296	0.003	B	0.08055	0.003	T	0.32929	-0.9888	10	0.02654	T	1	-4.7942	10.9651	0.47408	0.0931:0.0:0.9069:0.0	.	316	Q8TF39	ZN483_HUMAN	N	316	ENSP00000311679:D316N	ENSP00000311679:D316N	D	+	1	0	ZNF483	113343982	0.000000	0.05858	0.002000	0.10522	0.040000	0.13550	-0.529000	0.06186	1.418000	0.47098	0.655000	0.94253	GAC		0.398	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		11	264	0	0	0	0.069234	0	11	264				
IGHG1	3500	broad.mit.edu	37	14	106208372	106208372	+	RNA	SNP	C	C	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr14:106208372C>T	ENST00000390548.2	-	0	527							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TGTACTGCTCCTCCCGCGGCT	0.577																																						ENST00000390548.2																			0																				210.0	199.0	203.0					14																	106208372		2196	4279	6475			0							g.chr14:106208372C>T	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106208372C>T														0	527	-									RNA	SNP	ENST00000390548.2	37																																																																																						0.577	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		10	211	0	0	0	0.058154	0	10	211				
HK1	3098	broad.mit.edu	37	10	71136809	71136809	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr10:71136809G>A	ENST00000359426.6	+	8	1099	c.995G>A	c.(994-996)gGg>gAg	p.G332E	HK1_ENST00000404387.2_Missense_Mutation_p.G336E|HK1_ENST00000360289.2_Missense_Mutation_p.G320E|HK1_ENST00000448642.2_Missense_Mutation_p.G367E|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Missense_Mutation_p.G331E	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	332	Hexokinase type-2 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CTCACCCGAGGGAAGTTTAAC	0.542																																						ENST00000448642.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(1099-1101)gGg>gAg		hexokinase 1							120.0	113.0	115.0					10																	71136809		2203	4300	6503	SO:0001583	missense	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71136809G>A	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.995G>A	10.37:g.71136809G>A	ENSP00000352398:p.Gly332Glu					HK1_ENST00000360289.2_Missense_Mutation_p.G320E|HK1_ENST00000298649.3_Missense_Mutation_p.G331E|HK1_ENST00000359426.6_Missense_Mutation_p.G332E|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Missense_Mutation_p.G336E	p.G367E			P19367	HXK1_HUMAN			13	1489	+			332			Regulatory.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.1100G>A	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073777	0.94000	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77	4.94	4.94	0.65067	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.35335	0.0928	M	0.73753	2.245	0.80722	D	1	D;D;D;D;D;P	0.89917	1.0;1.0;1.0;0.969;0.961;0.67	D;D;D;P;P;B	0.97110	0.999;0.999;1.0;0.893;0.828;0.075	T	0.13710	-1.0499	10	0.62326	D	0.03	-3.4229	18.1516	0.89676	0.0:0.0:1.0:0.0	.	332;332;331;367;336;320	A8K7J7;P19367;P19367-2;E7ENR4;P19367-3;P19367-4	.;HXK1_HUMAN;.;.;.;.	E	320;367;336;331;332;332	ENSP00000353433:G320E;ENSP00000402103:G367E;ENSP00000384774:G336E;ENSP00000298649:G331E;ENSP00000352398:G332E	ENSP00000298649:G331E	G	+	2	0	HK1	70806815	1.000000	0.71417	0.500000	0.27589	0.996000	0.88848	9.822000	0.99363	2.293000	0.77203	0.585000	0.79938	GGG		0.542	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		5	124	0	0	0	0.029380	0	5	124				
KMT2A	4297	broad.mit.edu	37	11	118380710	118380710	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr11:118380710A>G	ENST00000389506.5	+	30	10939	c.10939A>G	c.(10939-10941)Atg>Gtg	p.M3647V	KMT2A_ENST00000354520.4_Missense_Mutation_p.M3609V|KMT2A_ENST00000534358.1_Missense_Mutation_p.M3650V|RP11-770J1.3_ENST00000532597.1_RNA			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3647					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CTCCCCACTGATGCTTTGGCT	0.398																																						ENST00000534358.1																			0											c.(10948-10950)Atg>Gtg		lysine (K)-specific methyltransferase 2A							94.0	91.0	92.0					11																	118380710		2200	4295	6495	SO:0001583	missense	4297							g.chr11:118380710A>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10939A>G	11.37:g.118380710A>G	ENSP00000374157:p.Met3647Val					KMT2A_ENST00000389506.5_Missense_Mutation_p.M3647V|KMT2A_ENST00000354520.4_Missense_Mutation_p.M3609V	p.M3650V	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					30	10971	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.10948A>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	11.06	1.527423	0.27299	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.81415	-1.49;-1.49;-1.45	5.87	5.87	0.94306	.	0.136638	0.64402	D	0.000002	T	0.73102	0.3544	L	0.40543	1.245	0.39663	D	0.970634	P;P	0.39250	0.665;0.665	B;B	0.36244	0.22;0.22	T	0.72574	-0.4252	10	0.21540	T	0.41	.	16.2736	0.82632	1.0:0.0:0.0:0.0	.	3650;3647	E9PQG7;Q03164	.;MLL1_HUMAN	V	3650;3647;3609;2557	ENSP00000436786:M3650V;ENSP00000374157:M3647V;ENSP00000346516:M3609V	ENSP00000346516:M3609V	M	+	1	0	MLL	117885920	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.159000	0.58157	2.247000	0.74100	0.477000	0.44152	ATG		0.398	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		6	91	0	0	0	0.038147	0	6	91				
PHIP	55023	broad.mit.edu	37	6	79650981	79650981	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:79650981G>C	ENST00000275034.4	-	40	5062	c.4895C>G	c.(4894-4896)tCa>tGa	p.S1632*	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1632					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CACAAGTTTTGATGGCTGTCC	0.398																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(4894-4896)tCa>tGa		pleckstrin homology domain interacting protein							90.0	92.0	91.0					6																	79650981		2203	4300	6503	SO:0001587	stop_gained	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79650981G>C	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4895C>G	6.37:g.79650981G>C	ENSP00000275034:p.Ser1632*					PHIP_ENST00000479165.1_5'UTR	p.S1632*	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	40	5062	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1632					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Nonsense_Mutation	SNP	ENST00000275034.4	37	c.4895C>G	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	42	9.632070	0.99224	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	.	.	.	5.96	5.96	0.96718	.	0.440952	0.22860	N	0.054741	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.7992	10.7664	0.46297	0.1436:0.0:0.8564:0.0	.	.	.	.	X	1632;358	.	.	S	-	2	0	PHIP	79707700	0.978000	0.34361	0.973000	0.42090	0.577000	0.36160	3.003000	0.49505	2.831000	0.97527	0.650000	0.86243	TCA		0.398	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			6	178	0	0	0	0.021553	0	6	178				
DIEXF	27042	broad.mit.edu	37	1	210016932	210016932	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:210016932C>G	ENST00000491415.2	+	11	1975	c.1918C>G	c.(1918-1920)Cac>Gac	p.H640D		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	640					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GAATTTTACCCACATCTGCGA	0.458																																						ENST00000491415.2																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						c.(1918-1920)Cac>Gac		digestive organ expansion factor homolog (zebrafish)							99.0	91.0	93.0					1																	210016932		2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210016932C>G	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1918C>G	1.37:g.210016932C>G	ENSP00000419005:p.His640Asp						p.H640D	NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN			11	1975	+			640					O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.1918C>G	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862444	0.51482	.	.	ENSG00000117597	ENST00000491415	T	0.41065	1.01	5.66	4.75	0.60458	.	0.133775	0.64402	D	0.000002	T	0.26593	0.0650	N	0.14661	0.345	0.48901	D	0.999725	P	0.44344	0.833	B	0.40702	0.338	T	0.03423	-1.1038	10	0.14252	T	0.57	-29.8489	14.44	0.67309	0.0:0.9295:0.0:0.0705	.	640	Q68CQ4	DIEXF_HUMAN	D	640	ENSP00000419005:H640D	ENSP00000419005:H640D	H	+	1	0	DIEXF	208083555	0.992000	0.36948	0.989000	0.46669	0.907000	0.53573	3.041000	0.49807	1.396000	0.46663	0.561000	0.74099	CAC		0.458	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		15	52	0	0	0	0.020292	0	15	52				
SCAF8	22828	broad.mit.edu	37	6	155143450	155143450	+	Silent	SNP	G	G	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:155143450G>T	ENST00000367178.3	+	16	2409	c.1833G>T	c.(1831-1833)acG>acT	p.T611T	SCAF8_ENST00000417268.1_Silent_p.T611T|SCAF8_ENST00000367186.4_Silent_p.T677T|RNU6-824P_ENST00000363724.1_RNA	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	611					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TTAAAGAGACGGTCCAGACAA	0.433																																						ENST00000367178.3																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(1831-1833)acG>acT		SR-related CTD-associated factor 8							124.0	122.0	122.0					6																	155143450		2203	4300	6503	SO:0001819	synonymous_variant	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155143450G>T	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.1833G>T	6.37:g.155143450G>T						SCAF8_ENST00000367186.4_Silent_p.T677T|SCAF8_ENST00000417268.1_Silent_p.T611T	p.T611T	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN			16	2409	+			611					B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Silent	SNP	ENST00000367178.3	37	c.1833G>T	CCDS5247.1																																																																																				0.433	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		7	151	1	0	0.0381472	0.038147	0.0397367	7	151				
UGGT2	55757	broad.mit.edu	37	13	96489363	96489363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr13:96489363G>A	ENST00000376747.3	-	37	4448	c.4378C>T	c.(4378-4380)Caa>Taa	p.Q1460*		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1460	Glucosyltransferase.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTGGCTCTTTGTTTGGATTCA	0.358																																						ENST00000376747.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(4378-4380)Caa>Taa		UDP-glucose glycoprotein glucosyltransferase 2							162.0	145.0	151.0					13																	96489363		2203	4300	6503	SO:0001587	stop_gained	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96489363G>A	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.4378C>T	13.37:g.96489363G>A	ENSP00000365938:p.Gln1460*						p.Q1460*	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			37	4448	-			1460			Glucosyltransferase.		A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Nonsense_Mutation	SNP	ENST00000376747.3	37	c.4378C>T	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	G	42	9.389272	0.99156	.	.	ENSG00000102595	ENST00000376747	.	.	.	5.65	1.11	0.20524	.	0.889113	0.10046	N	0.722801	.	.	.	.	.	.	0.29328	N	0.866867	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4139	9.652	0.39904	0.0:0.1934:0.2237:0.5828	.	.	.	.	X	1460	.	ENSP00000365938:Q1460X	Q	-	1	0	UGGT2	95287364	0.366000	0.25014	0.986000	0.45419	0.997000	0.91878	0.468000	0.22051	0.368000	0.24481	0.561000	0.74099	CAA		0.358	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		21	46	0	0	0	0.069288	0	21	46				
AVPR1A	552	broad.mit.edu	37	12	63543713	63543713	+	Missense_Mutation	SNP	C	C	T	rs369914673		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr12:63543713C>T	ENST00000299178.2	-	1	1009	c.904G>A	c.(904-906)Gtc>Atc	p.V302I		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	302					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GCCCAGCAGACGATGTAAGCC	0.567																																						ENST00000299178.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(904-906)Gtc>Atc		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	C	ILE/VAL	0,4406		0,0,2203	109.0	91.0	97.0		904	1.6	1.0	12		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	AVPR1A	NM_000706.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	302/419	63543713	1,13005	2203	4300	6503	SO:0001583	missense	0				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63543713C>T	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.904G>A	12.37:g.63543713C>T	ENSP00000299178:p.Val302Ile						p.V302I	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	1009	-			302						Missense_Mutation	SNP	ENST00000299178.2	37	c.904G>A	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376053	0.24857	0.0	1.16E-4	ENSG00000166148	ENST00000550940;ENST00000299178	T;T	0.36699	1.24;1.24	5.42	1.57	0.23409	GPCR, rhodopsin-like superfamily (1);	0.257811	0.38217	N	0.001772	T	0.17746	0.0426	N	0.16307	0.4	0.34661	D	0.722664	B	0.12630	0.006	B	0.15052	0.012	T	0.17899	-1.0354	9	.	.	.	-19.2914	5.9904	0.19458	0.0:0.4545:0.3124:0.2331	.	302	P37288	V1AR_HUMAN	I	83;302	ENSP00000449822:V83I;ENSP00000299178:V302I	.	V	-	1	0	AVPR1A	61829980	0.975000	0.34042	0.996000	0.52242	0.898000	0.52572	0.494000	0.22467	0.012000	0.14892	-0.263000	0.10527	GTC		0.567	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			6	142	0	0	0	0.029380	0	6	142				
STK38	11329	broad.mit.edu	37	6	36489539	36489539	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:36489539C>A	ENST00000229812.7	-	5	647	c.362G>T	c.(361-363)cGt>cTt	p.R121L	RN7SL748P_ENST00000483066.2_RNA	NM_007271.2	NP_009202.1			serine/threonine kinase 38									p.R121L(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCTGCTTTACGGAGTATTTT	0.338																																					Colon(180;997 3561 16158)	ENST00000229812.7																			1	Substitution - Missense(1)	p.R121L(1)	lung(1)	NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(361-363)cGt>cTt		serine/threonine kinase 38							129.0	137.0	134.0					6																	36489539		2203	4300	6503	SO:0001583	missense	11329				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	g.chr6:36489539C>A		CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.362G>T	6.37:g.36489539C>A	ENSP00000229812:p.Arg121Leu						p.R121L	NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN			5	647	-			121			Protein kinase.			Missense_Mutation	SNP	ENST00000229812.7	37	c.362G>T	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669827	0.88348	.	.	ENSG00000112079	ENST00000229812	T	0.66099	-0.19	5.49	5.49	0.81192	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.047414	0.85682	D	0.000000	T	0.67211	0.2869	L	0.46567	1.45	0.80722	D	1	D	0.53885	0.963	D	0.63033	0.91	T	0.60737	-0.7204	10	0.33940	T	0.23	.	19.5755	0.95441	0.0:1.0:0.0:0.0	.	121	Q15208	STK38_HUMAN	L	121	ENSP00000229812:R121L	ENSP00000229812:R121L	R	-	2	0	STK38	36597517	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.609000	0.82925	2.865000	0.98341	0.655000	0.94253	CGT		0.338	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271		64	133	1	0	1.21705e-43	0.048971	1.47224e-43	64	133				
KRT9	3857	broad.mit.edu	37	17	39725736	39725736	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr17:39725736T>A	ENST00000246662.4	-	4	1051	c.986A>T	c.(985-987)gAg>gTg	p.E329V	KRT9_ENST00000588431.1_Missense_Mutation_p.E96V	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	329	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CTGCTCATACTCCTGACGCAT	0.498																																						ENST00000246662.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(985-987)gAg>gTg		keratin 9							219.0	176.0	190.0					17																	39725736		2203	4300	6503	SO:0001583	missense	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39725736T>A		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.986A>T	17.37:g.39725736T>A	ENSP00000246662:p.Glu329Val					KRT9_ENST00000588431.1_Missense_Mutation_p.E96V	p.E329V	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN			4	1051	-		Breast(137;0.000307)	329			Coil 2.|Rod.		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	c.986A>T	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	T	19.53	3.844126	0.71488	.	.	ENSG00000171403	ENST00000246662	D	0.89415	-2.51	4.25	4.25	0.50352	Filament (1);	.	.	.	.	D	0.93588	0.7953	M	0.87617	2.895	0.19775	N	0.99995	D	0.60575	0.988	P	0.56343	0.796	D	0.87451	0.2401	9	0.87932	D	0	.	13.3587	0.60644	0.0:0.0:0.0:1.0	.	329	P35527	K1C9_HUMAN	V	329	ENSP00000246662:E329V	ENSP00000246662:E329V	E	-	2	0	KRT9	36979262	0.961000	0.32948	0.009000	0.14445	0.182000	0.23217	7.471000	0.80985	1.538000	0.49270	0.459000	0.35465	GAG		0.498	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		30	46	0	0	0	0.045705	0	30	46				
CDH19	28513	broad.mit.edu	37	18	64218460	64218460	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr18:64218460G>T	ENST00000540086.1	-	5	892	c.646C>A	c.(646-648)Ctg>Atg	p.L216M	CDH19_ENST00000262150.2_Missense_Mutation_p.L216M	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	324	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TCATCTTGCAGTTCTCTATCC	0.308																																						ENST00000262150.2																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(646-648)Ctg>Atg		cadherin 19, type 2							87.0	92.0	90.0					18																	64218460		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64218460G>T	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.646C>A	18.37:g.64218460G>T	ENSP00000439593:p.Leu216Met					CDH19_ENST00000540086.1_Missense_Mutation_p.L216M	p.L216M	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			5	938	-		Esophageal squamous(42;0.0132)	216			Cadherin 2.		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.646C>A	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	G	8.807	0.934384	0.18206	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.52526	0.66;0.66	5.83	1.85	0.25348	Cadherin (4);Cadherin-like (1);	0.291843	0.31268	N	0.007952	T	0.35711	0.0941	N	0.08118	0	0.09310	N	1	P;D	0.55385	0.701;0.971	B;P	0.62491	0.36;0.903	T	0.10543	-1.0625	10	0.59425	D	0.04	.	0.9723	0.01418	0.1769:0.2353:0.3398:0.248	.	216;216	F5H1K0;Q9H159	.;CAD19_HUMAN	M	216;216;161	ENSP00000262150:L216M;ENSP00000439593:L216M	ENSP00000262150:L216M	L	-	1	2	CDH19	62369440	0.009000	0.17119	0.932000	0.37286	0.951000	0.60555	0.550000	0.23345	0.787000	0.33731	0.585000	0.79938	CTG		0.308	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		7	162	1	0	0.00307968	0.038147	0.00334748	7	162				
IKZF3	22806	broad.mit.edu	37	17	37985663	37985663	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr17:37985663G>A	ENST00000346872.3	-	3	201	c.140C>T	c.(139-141)gCc>gTc	p.A47V	IKZF3_ENST00000467757.1_Missense_Mutation_p.A47V|IKZF3_ENST00000377944.3_Missense_Mutation_p.A47V|IKZF3_ENST00000377958.2_Missense_Mutation_p.A47V|IKZF3_ENST00000535189.1_Intron|IKZF3_ENST00000377952.2_Missense_Mutation_p.A47V|IKZF3_ENST00000394189.2_Missense_Mutation_p.A47V|IKZF3_ENST00000439016.2_Missense_Mutation_p.A47V|IKZF3_ENST00000377945.3_Missense_Mutation_p.A47V|IKZF3_ENST00000346243.3_Missense_Mutation_p.A47V|IKZF3_ENST00000350532.3_Missense_Mutation_p.A47V|IKZF3_ENST00000351680.3_Missense_Mutation_p.A47V|IKZF3_ENST00000439167.2_Intron	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	47					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATCTTCATTGGCTGGGCCTTC	0.403																																						ENST00000346872.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(139-141)gCc>gTc		IKAROS family zinc finger 3 (Aiolos)							179.0	145.0	156.0					17																	37985663		2203	4300	6503	SO:0001583	missense	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37985663G>A	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.140C>T	17.37:g.37985663G>A	ENSP00000344544:p.Ala47Val					IKZF3_ENST00000377952.2_Missense_Mutation_p.A47V|IKZF3_ENST00000377945.3_Missense_Mutation_p.A47V|IKZF3_ENST00000350532.3_Missense_Mutation_p.A47V|IKZF3_ENST00000351680.3_Missense_Mutation_p.A47V|IKZF3_ENST00000377958.2_Missense_Mutation_p.A47V|IKZF3_ENST00000535189.1_Intron|IKZF3_ENST00000467757.1_Missense_Mutation_p.A47V|IKZF3_ENST00000439167.2_Intron|IKZF3_ENST00000439016.2_Missense_Mutation_p.A47V|IKZF3_ENST00000394189.2_Missense_Mutation_p.A47V|IKZF3_ENST00000377944.3_Missense_Mutation_p.A47V|IKZF3_ENST00000346243.3_Missense_Mutation_p.A47V	p.A47V	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		3	201	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		47					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	c.140C>T	CCDS11346.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.985461	0.35036	.	.	ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757	T;T;T;T;T;T;T;T;T;T	0.09350	3.35;3.49;3.29;3.18;2.99;3.49;3.36;3.38;3.29;4.31	5.41	3.44	0.39384	.	0.667620	0.13674	N	0.370677	T	0.07818	0.0196	N	0.19112	0.55	0.09310	N	0.999993	B;B;B;B;B;B;B;B;B;B;B	0.09022	0.002;0.0;0.0;0.0;0.0;0.0;0.001;0.001;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B	0.10450	0.005;0.001;0.001;0.001;0.001;0.001;0.002;0.002;0.002;0.002;0.001	T	0.30357	-0.9981	10	0.62326	D	0.03	-0.7352	8.3358	0.32213	0.1816:0.0:0.8184:0.0	.	47;47;47;47;47;47;47;47;47;47;47	Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9	.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN	V	47	ENSP00000344544:A47V;ENSP00000367180:A47V;ENSP00000377741:A47V;ENSP00000367179:A47V;ENSP00000367194:A47V;ENSP00000367188:A47V;ENSP00000345622:A47V;ENSP00000341977:A47V;ENSP00000344471:A47V;ENSP00000420463:A47V	ENSP00000341977:A47V	A	-	2	0	IKZF3	35239189	0.270000	0.24152	0.997000	0.53966	0.854000	0.48673	0.609000	0.24238	0.668000	0.31126	-0.252000	0.11476	GCC		0.403	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		5	89	0	0	0	0.014758	0	5	89				
NOTCH1	4851	broad.mit.edu	37	9	139412203	139412203	+	Splice_Site	SNP	C	C	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr9:139412203C>T	ENST00000277541.6	-	8	1517		c.e8+1		MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1						anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCGACGCACCGGGCATGCA	0.667			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.e8+1		notch 1							43.0	47.0	45.0					9																	139412203		2062	4191	6253	SO:0001630	splice_region_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412203C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1441+1G>A	9.37:g.139412203C>T		HNSCC(8;0.001)						NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1517	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)						Q59ED8|Q5SXM3	Splice_Site	SNP	ENST00000277541.6	37		CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126559	0.56721	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0962	0.81127	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH1	138532024	1.000000	0.71417	0.153000	0.22517	0.011000	0.07611	5.609000	0.67661	2.029000	0.59856	0.462000	0.41574	.		0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617	Intron	8	60	0	0	0	0.047766	0	8	60				
FUBP1	8880	broad.mit.edu	37	1	78430845	78430845	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:78430845C>A	ENST00000370768.2	-	8	625	c.544G>T	c.(544-546)Gga>Tga	p.G182*	FUBP1_ENST00000370767.1_Nonsense_Mutation_p.G182*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.G203*	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	182					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTTCCCGGTCCATCGCCATGA	0.408			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(544-546)Gga>Tga		far upstream element (FUSE) binding protein 1							150.0	148.0	148.0					1																	78430845		2203	4300	6503	SO:0001587	stop_gained	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78430845C>A	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.544G>T	1.37:g.78430845C>A	ENSP00000359804:p.Gly182*					FUBP1_ENST00000436586.2_Nonsense_Mutation_p.G203*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.G182*	p.G182*			Q96AE4	FUBP1_HUMAN			8	631	-			182					Q12828	Nonsense_Mutation	SNP	ENST00000370768.2	37	c.544G>T	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078219	0.94000	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586;ENST00000421641	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-11.0204	19.9468	0.97185	0.0:1.0:0.0:0.0	.	.	.	.	X	181;182;182;181;203;202	.	ENSP00000294623:G181X	G	-	1	0	FUBP1	78203433	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.784000	0.95788	0.650000	0.86243	GGA		0.408	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		8	122	1	0	4.68919e-08	0.069234	5.32862e-08	8	122				
MSTN	2660	broad.mit.edu	37	2	190927295	190927295	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:190927295T>G	ENST00000260950.4	-	1	160	c.28A>C	c.(28-30)Att>Ctt	p.I10L	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	10					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			AACAGGTAAATATAAACACAG	0.323																																						ENST00000260950.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12						c.(28-30)Att>Ctt		myostatin							81.0	80.0	80.0					2																	190927295		2203	4299	6502	SO:0001583	missense	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190927295T>G	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.28A>C	2.37:g.190927295T>G	ENSP00000260950:p.Ile10Leu					C2orf88_ENST00000478197.1_Intron	p.I10L	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		1	160	-			10					A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	ENST00000260950.4	37	c.28A>C	CCDS2303.1	.	.	.	.	.	.	.	.	.	.	T	8.543	0.873634	0.17322	.	.	ENSG00000138379	ENST00000260950	T	0.69040	-0.37	5.49	5.49	0.81192	.	0.286569	0.39475	N	0.001345	T	0.51312	0.1667	N	0.24115	0.695	0.41078	D	0.985507	B	0.06786	0.001	B	0.08055	0.003	T	0.48479	-0.9032	10	0.11182	T	0.66	-12.7864	15.7597	0.78070	0.0:0.0:0.0:1.0	.	10	O14793	GDF8_HUMAN	L	10	ENSP00000260950:I10L	ENSP00000260950:I10L	I	-	1	0	MSTN	190635540	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	0.824000	0.27379	2.304000	0.77564	0.528000	0.53228	ATT		0.323	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		40	82	0	0	0	0.048971	0	40	82				
OR1S1	219959	broad.mit.edu	37	11	57982676	57982676	+	Missense_Mutation	SNP	G	G	A	rs117920455	byFrequency	TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr11:57982676G>A	ENST00000309433.6	+	1	460	c.460G>A	c.(460-462)Ggc>Agc	p.G154S		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GCCCAGGTTCGGCATTTTGCT	0.463													G|||	3	0.000599042	0.0	0.0	5008	,	,		20687	0.0		0.003	False		,,,				2504	0.0					ENST00000309433.6																			0				breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48						c.(460-462)Ggc>Agc		olfactory receptor, family 1, subfamily S, member 1		G	SER/GLY	1,4401	2.1+/-5.4	0,1,2200	201.0	192.0	195.0		460	2.3	0.1	11	dbSNP_132	195	9,8583	7.1+/-27.0	0,9,4287	yes	missense	OR1S1	NM_001004458.1	56	0,10,6487	AA,AG,GG		0.1047,0.0227,0.077	benign	154/326	57982676	10,12984	2201	4296	6497	SO:0001583	missense	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982676G>A	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.460G>A	11.37:g.57982676G>A	ENSP00000311688:p.Gly154Ser						p.G154S	NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN			1	460	+		Breast(21;0.0589)	154					Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	c.460G>A	CCDS31546.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	7.172	0.587885	0.13812	2.27E-4	0.001047	ENSG00000172774	ENST00000309433	T	0.36340	1.26	3.45	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.118214	0.38548	N	0.001648	T	0.12732	0.0309	N	0.01761	-0.735	0.09310	N	0.999999	B	0.34061	0.436	B	0.27608	0.081	T	0.15665	-1.0429	10	0.66056	D	0.02	.	9.0737	0.36508	0.0:0.0:0.1883:0.8117	.	154	Q8NH92	OR1S1_HUMAN	S	154	ENSP00000311688:G154S	ENSP00000311688:G154S	G	+	1	0	OR1S1	57739252	0.908000	0.30866	0.062000	0.19696	0.126000	0.20510	1.412000	0.34714	0.415000	0.25817	-0.537000	0.04273	GGC		0.463	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		6	280	0	0	0	0.029380	0	6	280				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000564451.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000567960.1_RNA								0	1866	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	109	0	0	0	0.004672	0	3	109				
NPM3	10360	broad.mit.edu	37	10	103541522	103541522	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr10:103541522G>A	ENST00000370110.5	-	5	530	c.508C>T	c.(508-510)Cct>Tct	p.P170S	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	170					rRNA processing (GO:0006364)|rRNA transcription (GO:0009303)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.P170S(1)		large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		TTTTTGGCAGGAAGGATGGGG	0.582											OREG0020469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000370110.5																			1	Substitution - Missense(1)	p.P170S(1)	skin(1)	large_intestine(3)|lung(1)|skin(1)	5						c.(508-510)Cct>Tct		nucleophosmin/nucleoplasmin 3							285.0	258.0	268.0					10																	103541522		2203	4300	6503	SO:0001583	missense	10360						nucleic acid binding	g.chr10:103541522G>A	AY049737	CCDS7519.1	10q24.31	2009-08-27	2009-08-27		ENSG00000107833	ENSG00000107833			7931	protein-coding gene	gene with protein product		606456				11722795	Standard	NM_006993		Approved		uc001ktt.3	O75607	OTTHUMG00000018942	ENST00000370110.5:c.508C>T	10.37:g.103541522G>A	ENSP00000359128:p.Pro170Ser		OREG0020469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1374	NPM3_ENST00000474993.1_5'UTR	p.P170S	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)	5	530	-		Colorectal(252;0.122)	170					Q9UNY6	Missense_Mutation	SNP	ENST00000370110.5	37	c.508C>T	CCDS7519.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244004	0.79912	.	.	ENSG00000107833	ENST00000370110	T	0.42900	0.96	5.23	5.23	0.72850	.	0.117854	0.64402	D	0.000018	T	0.61763	0.2373	M	0.65975	2.015	0.46954	D	0.999264	D	0.76494	0.999	D	0.67231	0.95	T	0.62473	-0.6847	10	0.56958	D	0.05	-11.1098	16.1116	0.81266	0.0:0.0:1.0:0.0	.	170	O75607	NPM3_HUMAN	S	170	ENSP00000359128:P170S	ENSP00000359128:P170S	P	-	1	0	NPM3	103531512	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.986000	0.49370	2.736000	0.93811	0.655000	0.94253	CCT		0.582	NPM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050003.2	NM_006993		7	367	0	0	0	0.029380	0	7	367				
AGMAT	79814	broad.mit.edu	37	1	15904231	15904231	+	Silent	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:15904231G>A	ENST00000375826.3	-	5	991	c.849C>T	c.(847-849)gcC>gcT	p.A283A	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	283					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGCGCATAGGCAGGATCCA	0.527																																					NSCLC(126;1678 1780 25805 43508 49531)	ENST00000375826.3																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12						c.(847-849)gcC>gcT		agmatine ureohydrolase (agmatinase)							125.0	111.0	116.0					1																	15904231		2203	4300	6503	SO:0001819	synonymous_variant	79814				putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding	g.chr1:15904231G>A	AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.849C>T	1.37:g.15904231G>A						DNAJC16_ENST00000483270.1_Intron	p.A283A	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)	5	991	-		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	283					Q5TDH1|Q9H5J3	Silent	SNP	ENST00000375826.3	37	c.849C>T	CCDS160.1																																																																																				0.527	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006763.1	NM_024758		5	59	0	0	0	0.021553	0	5	59				
LRRC7	57554	broad.mit.edu	37	1	70452024	70452024	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:70452024C>T	ENST00000035383.5	+	8	802	c.772C>T	c.(772-774)Ctc>Ttc	p.L258F	LRRC7_ENST00000310961.5_Missense_Mutation_p.L263F|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	258						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.L258I(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCTTGAGGACCTCTTATTGTC	0.328																																						ENST00000310961.5																			1	Substitution - Missense(1)	p.L258I(1)	lung(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(787-789)Ctc>Ttc		leucine rich repeat containing 7							98.0	94.0	95.0					1																	70452024		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70452024C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.772C>T	1.37:g.70452024C>T	ENSP00000035383:p.Leu258Phe					LRRC7_ENST00000035383.5_Missense_Mutation_p.L258F|LRRC7_ENST00000415775.2_5'UTR	p.L263F			Q96NW7	LRRC7_HUMAN			11	1205	+			258					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.787C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.603194	0.46423	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	D;D	0.81499	-1.5;-1.5	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.78941	0.4363	M	0.76574	2.34	0.80722	D	1	P	0.40066	0.701	B	0.42959	0.403	T	0.78778	-0.2071	10	0.39692	T	0.17	.	17.6337	0.88116	0.0:1.0:0.0:0.0	.	258	Q96NW7	LRRC7_HUMAN	F	263;258;81	ENSP00000309245:L263F;ENSP00000035383:L258F	ENSP00000035383:L258F	L	+	1	0	LRRC7	70224612	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	5.658000	0.68003	2.840000	0.97914	0.655000	0.94253	CTC		0.328	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		25	19	0	0	0	0.091800	0	25	19				
FNDC9	408263	broad.mit.edu	37	5	156770036	156770036	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:156770036T>C	ENST00000312349.4	-	2	696	c.509A>G	c.(508-510)cAg>cGg	p.Q170R	CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000377576.3_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	170						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TTCCTCCCTCTGACCAAGATC	0.612											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000312349.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(508-510)cAg>cGg		fibronectin type III domain containing 9							81.0	83.0	82.0					5																	156770036		2203	4300	6503	SO:0001583	missense	408263					integral to membrane		g.chr5:156770036T>C	BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"""Fibronectin type III domain containing"""	33547	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 40"""	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.509A>G	5.37:g.156770036T>C	ENSP00000310594:p.Gln170Arg		OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1781	CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000541131.1_Intron	p.Q170R	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN			2	696	-			170					A8K0Y6	Missense_Mutation	SNP	ENST00000312349.4	37	c.509A>G	CCDS4337.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.635109	0.47049	.	.	ENSG00000172568	ENST00000312349;ENST00000520782	T;T	0.63580	-0.05;-0.05	5.08	-0.791	0.10929	.	0.497322	0.18100	N	0.151723	T	0.35480	0.0933	N	0.19112	0.55	0.25971	N	0.982495	B	0.06786	0.001	B	0.06405	0.002	T	0.06881	-1.0802	10	0.28530	T	0.3	-6.5282	1.4331	0.02338	0.3942:0.0888:0.135:0.382	.	170	Q8TBE3	FNDC9_HUMAN	R	170	ENSP00000310594:Q170R;ENSP00000429434:Q170R	ENSP00000310594:Q170R	Q	-	2	0	FNDC9	156702614	0.990000	0.36364	0.927000	0.36925	0.722000	0.41435	0.458000	0.21892	0.231000	0.21079	0.402000	0.26972	CAG		0.612	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2	NM_001001343		62	82	0	0	0	0.048971	0	62	82				
MIR146A	406938	broad.mit.edu	37	5	159912436	159912436	+	lincRNA	SNP	G	G	C	rs529455292	byFrequency	TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:159912436G>C	ENST00000385201.1	+	0	78					NR_029701.1				microRNA 146a																		CAGTTCTTCAGCTGGGATATC	0.468																																						ENST00000385201.1																			0																				60.0	55.0	56.0					5																	159912436		1568	3582	5150			0							g.chr5:159912436G>C			5q34	2011-09-12	2005-06-30	2008-12-18	ENSG00000207936			"""ncRNAs / Micro RNAs"""	31533	non-coding RNA	RNA, micro		610566	"""microRNA 146"""	MIRN146, MIRN146A			Standard	NR_029701		Approved	hsa-mir-146, hsa-mir-146a					5.37:g.159912436G>C								NR_029701.1						0	78	+									RNA	SNP	ENST00000385201.1	37																																																																																						0.468	MIR146A-201	KNOWN	basic	miRNA	lincRNA		NR_029701		22	33	0	0	0	0.076483	0	22	33				
ERCC6L2	375748	broad.mit.edu	37	9	98774903	98774903	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr9:98774903G>C	ENST00000407474.3	+	4	1527	c.1014G>C	c.(1012-1014)aaG>aaC	p.K338N				Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	1368					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										CAGAAACTAAGAAATCACCTG	0.368																																						ENST00000407474.3																			0											c.(1012-1014)aaG>aaC		excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2							56.0	62.0	60.0					9																	98774903		2203	4300	6503	SO:0001583	missense	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98774903G>C	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000407474.3:c.1014G>C	9.37:g.98774903G>C	ENSP00000384365:p.Lys338Asn						p.K338N			Q5T890	RAD26_HUMAN			4	1527	+			73					A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000407474.3	37	c.1014G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.155|0.155	-1.087697|-1.087697	0.01873|0.01873	.|.	.|.	ENSG00000182150|ENSG00000182150	ENST00000407474|ENST00000320486	.|.	.|.	.|.	4.64|4.64	-0.449|-0.449	0.12226|0.12226	.|.	0.433151|.	0.19285|.	N|.	0.118041|.	T|T	0.19846|0.19846	0.0477|0.0477	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.20671|.	0.047|.	B|.	0.22386|.	0.039|.	T|T	0.23190|0.23190	-1.0195|-1.0195	8|4	0.23302|.	T|.	0.38|.	.|.	0.9144|0.9144	0.01301|0.01301	0.344:0.2896:0.2197:0.1468|0.344:0.2896:0.2197:0.1468	.|.	338|.	A4D997|.	CI102_HUMAN|.	N|T	338|329	.|.	ENSP00000384365:K338N|.	K|R	+|+	3|2	2|0	C9orf102|C9orf102	97814724|97814724	0.007000|0.007000	0.16637|0.16637	0.000000|0.000000	0.03702|0.03702	0.237000|0.237000	0.25408|0.25408	-0.189000|-0.189000	0.09629|0.09629	-0.272000|-0.272000	0.09259|0.09259	0.650000|0.650000	0.86243|0.86243	AAG|AGA		0.368	ERCC6L2-201	KNOWN	basic	protein_coding	protein_coding		NM_001010895		44	51	0	0	0	0.048971	0	44	51				
XPO4	64328	broad.mit.edu	37	13	21381759	21381759	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr13:21381759C>G	ENST00000255305.6	-	13	1725	c.1654G>C	c.(1654-1656)Gat>Cat	p.D552H	XPO4_ENST00000400602.2_Missense_Mutation_p.D552H			Q9C0E2	XPO4_HUMAN	exportin 4	552					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGAGTATCATCAGCTAAGAGG	0.289																																						ENST00000400602.2																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(1654-1656)Gat>Cat		exportin 4							82.0	75.0	77.0					13																	21381759		1817	4075	5892	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21381759C>G	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.1654G>C	13.37:g.21381759C>G	ENSP00000255305:p.Asp552His					XPO4_ENST00000255305.6_Missense_Mutation_p.D552H	p.D552H	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	13	1689	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	552					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.1654G>C	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993450	0.54041	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.35973	1.28;1.29	5.74	5.74	0.90152	Armadillo-type fold (1);	0.084546	0.85682	D	0.000000	T	0.48241	0.1489	M	0.68317	2.08	0.58432	D	0.999997	P	0.46277	0.875	P	0.52386	0.697	T	0.44847	-0.9301	10	0.51188	T	0.08	-14.9985	10.9324	0.47226	0.0:0.887:0.0:0.113	.	552	Q9C0E2	XPO4_HUMAN	H	552;422;552	ENSP00000383444:D552H;ENSP00000255305:D552H	ENSP00000255305:D552H	D	-	1	0	XPO4	20279759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.531000	0.60602	2.707000	0.92482	0.563000	0.77884	GAT		0.289	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		5	118	0	0	0	0.021553	0	5	118				
SERBP1	26135	broad.mit.edu	37	1	67895672	67895675	+	Splice_Site	DEL	TTCT	TTCT	-			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:67895672_67895675delTTCT	ENST00000370995.2	-	1	394_397	c.309_312delAGAA	c.(307-312)aaagaa>aa	p.KE103fs	SERBP1_ENST00000370994.4_Splice_Site_p.KE103fs|SERBP1_ENST00000361219.6_Splice_Site_p.KE103fs|SERBP1_ENST00000370990.5_Splice_Site_p.KE103fs			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	103					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CTGCTTTACCTTCTTTCTTAAGCG	0.632																																						ENST00000370994.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						c.e1+1		SERPINE1 mRNA binding protein 1																																				SO:0001630	splice_region_variant	26135				regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding	g.chr1:67895672_67895675delTTCT	AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.313+1AGAA>-	1.37:g.67895676_67895679delTTCT						SERBP1_ENST00000370995.2_Splice_Site_p.KE103_splice|SERBP1_ENST00000361219.6_Splice_Site_p.KE103_splice|SERBP1_ENST00000370990.5_Splice_Site_p.KE103_splice	p.KE103_splice	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN			1	423_426	-			103					Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Splice_Site	DEL	ENST00000370995.2	37	c.313_splice	CCDS30746.1																																																																																				0.632	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2	NM_001018067	Frame_Shift_Del	36	108						36	108	---	---	---	---
UBR3	130507	broad.mit.edu	37	2	170929938	170929940	+	Splice_Site	DEL	GAA	GAA	-			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:170929938_170929940delGAA	ENST00000272793.5	+	36	5070_5072	c.5020_5022delGAA	c.(5020-5022)gaadel	p.E1677del	UBR3_ENST00000418381.1_Splice_Site_p.E1677del|UBR3_ENST00000392631.1_Splice_Site_p.E498del			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1677					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TGTCTAAAAGGAAGAAGAAGAAT	0.379																																						ENST00000272793.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.e36-1		ubiquitin protein ligase E3 component n-recognin 3 (putative)																																				SO:0001630	splice_region_variant	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170929938_170929940delGAA	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.5020-1GAA>-	2.37:g.170929947_170929949delGAA						UBR3_ENST00000418381.1_Splice_Site_p.E1677_splice|UBR3_ENST00000392631.1_Splice_Site_p.E498_splice	p.E1677_splice			Q6ZT12	UBR3_HUMAN			36	5070_5072	+			1677					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Splice_Site	DEL	ENST00000272793.5	37	c.5019_splice																																																																																					0.379	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070	In_Frame_Del	8	206						8	206	---	---	---	---
APPL1	26060	broad.mit.edu	37	3	57302495	57302498	+	Frame_Shift_Del	DEL	AAAC	AAAC	-			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr3:57302495_57302498delAAAC	ENST00000288266.3	+	21	2110_2113	c.1963_1966delAAAC	c.(1963-1968)aaacaafs	p.KQ657fs	ASB14_ENST00000487349.1_3'UTR|ASB14_ENST00000389601.3_3'UTR	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	657					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		agaactcaataaacaaaaacagat	0.314																																						ENST00000288266.3																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27						c.(1963-1968)aafs		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1																																				SO:0001589	frameshift_variant	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57302495_57302498delAAAC	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1963_1966delAAAC	3.37:g.57302495_57302498delAAAC	ENSP00000288266:p.Lys657fs					ASB14_ENST00000389601.3_3'UTR|ASB14_ENST00000487349.1_3'UTR	p.KQ657fs	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	21	2110_2113	+			657					Q9P2B9	Frame_Shift_Del	DEL	ENST00000288266.3	37	c.1963_1966delAAAC	CCDS2882.1																																																																																				0.314	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		18	42						18	42	---	---	---	---
GPR151	134391	broad.mit.edu	37	5	145895373	145895374	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:145895373_145895374delTT	ENST00000311104.2	-	1	379_380	c.303_304delAA	c.(301-306)aaaagtfs	p.S102fs		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCCAAACACTTTTGGAGTACG	0.515																																					Pancreas(78;420 1386 18535 37114 49710)	ENST00000311104.2																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14						c.(301-306)aagtfs		G protein-coupled receptor 151																																				SO:0001589	frameshift_variant	134391					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:145895373_145895374delTT	AY255557	CCDS34266.1	5q32	2012-08-21						"""GPCR / Class A : Orphans"""	23624	protein-coding gene	gene with protein product	"""galanin receptor 4"""					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.303_304delAA	5.37:g.145895375_145895376delTT	ENSP00000308733:p.Ser102fs						p.KS101fs	NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	379_380	-			101					Q86SN8|Q8NGV2	Frame_Shift_Del	DEL	ENST00000311104.2	37	c.303_304delAA	CCDS34266.1																																																																																				0.515	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1	NM_194251		7	131						7	131	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157521872	157521872	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:157521872delC	ENST00000350026.5	+	17	4106	c.4105delC	c.(4105-4107)cccfs	p.P1370fs	ARID1B_ENST00000367148.1_Frame_Shift_Del_p.P1423fs|ARID1B_ENST00000346085.5_Frame_Shift_Del_p.P1383fs|ARID1B_ENST00000275248.4_Frame_Shift_Del_p.P1365fs	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1370					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CATGTACGGGCCCCCAGCCAA	0.507																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(4144-4146)ccfs		AT rich interactive domain 1B (SWI1-like)							60.0	62.0	62.0					6																	157521872		2203	4296	6499	SO:0001589	frameshift_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157521872delC	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4105delC	6.37:g.157521872delC	ENSP00000055163:p.Pro1370fs					ARID1B_ENST00000275248.4_Frame_Shift_Del_p.P1365fs|ARID1B_ENST00000367148.1_Frame_Shift_Del_p.P1423fs|ARID1B_ENST00000350026.5_Frame_Shift_Del_p.P1370fs	p.P1383fs	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4145	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1370					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Frame_Shift_Del	DEL	ENST00000350026.5	37	c.4144delC	CCDS5251.2																																																																																				0.507	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		22	164						22	164	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113259317	113259319	+	In_Frame_Del	DEL	AGA	AGA	-	rs372497313		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr8:113259317_113259319delAGA	ENST00000297405.5	-	64	10396_10398	c.10152_10154delTCT	c.(10150-10155)cttctc>ctc	p.3384_3385LL>L	CSMD3_ENST00000343508.3_In_Frame_Del_p.3344_3345LL>L|CSMD3_ENST00000352409.3_In_Frame_Del_p.3314_3315LL>L|CSMD3_ENST00000455883.2_In_Frame_Del_p.3215_3216LL>L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3384	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGACCCTTGGAGAAGGTGTCCTT	0.399										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10150-10155)ctc>ct		CUB and Sushi multiple domains 3																																				SO:0001651	inframe_deletion	114788					integral to membrane|plasma membrane		g.chr8:113259317_113259319delAGA	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10152_10154delTCT	8.37:g.113259317_113259319delAGA	ENSP00000297405:p.Leu3385del	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_In_Frame_Del_p.LL3215del|CSMD3_ENST00000352409.3_In_Frame_Del_p.LL3314del|CSMD3_ENST00000343508.3_In_Frame_Del_p.LL3344del	p.LL3384del	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			64	10396_10398	-			3384			Sushi 27.		Q96PZ3	In_Frame_Del	DEL	ENST00000297405.5	37	c.10152_10154delTCT	CCDS6315.1																																																																																				0.399	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		9	66						9	66	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139413129	139413131	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr9:139413129_139413131delTCA	ENST00000277541.6	-	6	1086_1088	c.1011_1013delTGA	c.(1009-1014)gatgac>gac	p.337_338DD>D	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	337	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCTGGCACAGTCATCAATGTTCT	0.631			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1009-1014)gac>ga		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413129_139413131delTCA	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1011_1013delTGA	9.37:g.139413132_139413134delTCA	ENSP00000277541:p.Asp338del	HNSCC(8;0.001)					p.DD337del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1086_1088	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	337			EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1011_1013delTGA	CCDS43905.1																																																																																				0.631	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		13	28						13	28	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26684390	26684391	+	5'Flank	INS	-	-	C	rs11448856|rs67934205		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr17:26684390_26684391insC	ENST00000292114.3	+	0	0				POLDIP2_ENST00000003607.4_5'UTR|TMEM199_ENST00000395404.3_5'Flank|POLDIP2_ENST00000540200.1_Frame_Shift_Ins_p.P28fs|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_5'Flank	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GCACAGAGCGGCTTTGCCACCG	0.762													?|C|CC|unsure	5008	1.0	1.0	1.0	5008	,	,		11683	1.0		1.0	False		,,,				2504	1.0					ENST00000540200.1																			0											c.(79-84)aacgctfs		polymerase (DNA-directed), delta interacting protein 2				2752,40		1369,14,13						3.8	0.1		dbSNP_130	4	6434,100		3190,54,23	no	frameshift	POLDIP2	NM_015584.3		4559,68,36	A1A1,A1R,RR		1.5305,1.4327,1.5012				9186,140				SO:0001631	upstream_gene_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26684390_26684391insC	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684391_26684391dupC	Exception_encountered					POLDIP2_ENST00000003607.4_5'UTR	p.NA27fs	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	2	80_81	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)		28						Frame_Shift_Ins	INS	ENST00000292114.3	37	c.81_82insG	CCDS11228.1																																																																																				0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		5	5						5	5	---	---	---	---
RP11-308D16.4	0	broad.mit.edu	37	X	136030630	136030631	+	RNA	INS	-	-	T	rs59496527|rs397945072		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:136030630_136030631insT	ENST00000424306.1	+	0	2052																											ccttctcttccttttttttttt	0.465													|||unknown(HR)	1717	0.454834	0.2474	0.4496	3775	,	,		11121	0.3919		0.2445	False		,,,				2504	0.4468					ENST00000424306.1																			0																																																			0							g.chrX:136030630_136030631insT																													X.37:g.136030641_136030641dupT														0	2052	+									RNA	INS	ENST00000424306.1	37																																																																																						0.465	RP11-308D16.4-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000058514.2			5	2						5	2	---	---	---	---
