#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
ABCA4	24	broad.mit.edu	37	1	94463458	94463458	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr1:94463458G>A	ENST00000370225.3	-	48	6774	c.6688C>T	c.(6688-6690)Ctc>Ttc	p.L2230F	ABCA4_ENST00000535881.1_Missense_Mutation_p.L349F|ABCA4_ENST00000536513.1_Missense_Mutation_p.L500F	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2230					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCTCGATGAGCAGGCTGTCC	0.592																																						uc001dqh.2																			0				ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(6688-6690)CTC>TTC		ATP-binding cassette, sub-family A member 4							138.0	105.0	116.0					1																	94463458		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94463458G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6688C>T	1.37:g.94463458G>A	ENSP00000359245:p.Leu2230Phe						p.L2230F	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	48	6792	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	2230			Cytoplasmic.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.6688C>T	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	6.729	0.503267	0.12822	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	T;T;T	0.74737	-0.87;-0.87;-0.87	5.39	0.937	0.19494	.	17.037100	0.00166	N	0.000001	T	0.39036	0.1063	N	0.22421	0.69	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.51180	-0.8738	10	0.22109	T	0.4	.	4.2851	0.10851	0.3073:0.0:0.3979:0.2949	.	2230	P78363	ABCA4_HUMAN	F	1022;2230;500;349	ENSP00000359245:L2230F;ENSP00000439707:L500F;ENSP00000443203:L349F	ENSP00000359245:L2230F	L	-	1	0	ABCA4	94236046	0.972000	0.33761	1.000000	0.80357	0.996000	0.88848	0.564000	0.23563	0.661000	0.30985	0.563000	0.77884	CTC		0.592	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
NBPF10	100132406	broad.mit.edu	37	1	145324371	145324371	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr1:145324371T>C	ENST00000342960.5	+	28	3601	c.3566T>C	c.(3565-3567)gTa>gCa	p.V1189A	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	776						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTGCTGGAGGTAGTAGCGCCT	0.498																																						uc001end.3																			0					0						c.(3790-3792)GTA>GCA		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145324371T>C	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3566T>C	1.37:g.145324371T>C	ENSP00000345684:p.Val1189Ala					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oym.1_Intron|NBPF10_uc010oyn.1_Intron|NBPF10_uc010oyo.1_Intron|NBPF10_uc010oyp.1_RNA	p.V1264A	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	30	3826	+	all_hematologic(923;0.032)		1189					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.3791T>C	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.402480	0.00195	.	.	ENSG00000163386	ENST00000342960	T	0.06218	3.33	.	.	.	.	.	.	.	.	T	0.01189	0.0039	L	0.31476	0.935	0.09310	N	1	.	.	.	.	.	.	T	0.45804	-0.9236	5	0.07482	T	0.82	.	.	.	.	.	.	.	.	A	1189	ENSP00000345684:V1189A	ENSP00000345684:V1189A	V	+	2	0	NBPF10	144035728	0.000000	0.05858	0.004000	0.12327	0.000000	0.00434	-1.639000	0.02011	0.493000	0.27837	0.000000	0.15137	GTA		0.498	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
OPTC	26254	broad.mit.edu	37	1	203472741	203472741	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr1:203472741C>T	ENST00000367222.2	+	7	1008	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	298					negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CAAACACACCCGCAGGCAGCT	0.587																																						uc001gzu.1																			0					0						c.(892-894)CGC>TGC		opticin precursor							110.0	104.0	106.0					1																	203472741		2203	4300	6503	SO:0001583	missense	26254					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:203472741C>T	AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"""oculoglycan"""	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.892C>T	1.37:g.203472741C>T	ENSP00000356191:p.Arg298Cys						p.R298C	NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		7	1008	+			298					Q5T2G4	Missense_Mutation	SNP	ENST00000367222.2	37	c.892C>T	CCDS1439.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896349	0.72639	.	.	ENSG00000188770	ENST00000367222	T	0.02280	4.36	3.94	3.0	0.34707	.	0.000000	0.64402	D	0.000005	T	0.06962	0.0177	L	0.45352	1.415	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.21381	-1.0247	10	0.54805	T	0.06	-21.832	9.7494	0.40466	0.3746:0.6254:0.0:0.0	.	298	Q9UBM4	OPT_HUMAN	C	298	ENSP00000356191:R298C	ENSP00000356191:R298C	R	+	1	0	OPTC	201739364	0.989000	0.36119	0.167000	0.22817	0.736000	0.42039	1.862000	0.39448	0.832000	0.34804	0.505000	0.49811	CGC		0.587	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1	NM_014359	
PIGR	5284	broad.mit.edu	37	1	207109154	207109154	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr1:207109154A>T	ENST00000356495.4	-	5	1238	c.1055T>A	c.(1054-1056)aTt>aAt	p.I352N		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	352	Ig-like V-type 3.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTGCGGGGAATCGTGGACTC	0.602											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hez.2																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1054-1056)ATT>AAT		polymeric immunoglobulin receptor precursor							23.0	26.0	25.0					1																	207109154		2201	4299	6500	SO:0001583	missense	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207109154A>T		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1055T>A	1.37:g.207109154A>T	ENSP00000348888:p.Ile352Asn		OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2165	PIGR_uc009xbz.2_Missense_Mutation_p.I352N	p.I352N	NM_002644	NP_002635	P01833	PIGR_HUMAN			5	1239	-			352			Ig-like V-type 3.|Extracellular (Potential).		Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	c.1055T>A	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.726344	0.69074	.	.	ENSG00000162896	ENST00000356495	T	0.04275	3.66	5.55	5.55	0.83447	.	1.014150	0.07881	N	0.969449	T	0.20740	0.0499	M	0.68317	2.08	0.09310	N	1	D	0.76494	0.999	D	0.68943	0.961	T	0.18366	-1.0339	10	0.72032	D	0.01	-22.5887	12.0823	0.53677	1.0:0.0:0.0:0.0	.	352	P01833	PIGR_HUMAN	N	352	ENSP00000348888:I352N	ENSP00000348888:I352N	I	-	2	0	PIGR	205175777	0.036000	0.19791	0.003000	0.11579	0.111000	0.19643	3.552000	0.53705	2.112000	0.64535	0.533000	0.62120	ATT		0.602	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644	
SLC18A2	6571	broad.mit.edu	37	10	119003545	119003545	+	Missense_Mutation	SNP	C	C	T	rs140529367		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr10:119003545C>T	ENST00000298472.5	+	3	328	c.185C>T	c.(184-186)aCg>aTg	p.T62M	SLC18A2_ENST00000497497.1_3'UTR|RP11-501J20.5_ENST00000425264.1_RNA	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	62					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GAAATCCAGACGGCCAGGCCA	0.493																																						uc001ldd.1																			0					0						c.(184-186)ACG>ATG		solute carrier family 18 (vesicular monoamine),	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	C	MET/THR	0,4406		0,0,2203	85.0	74.0	78.0		185	5.8	1.0	10	dbSNP_134	78	3,8597	3.0+/-9.4	0,3,4297	yes	missense	SLC18A2	NM_003054.4	81	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	62/515	119003545	3,13003	2203	4300	6503	SO:0001583	missense	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119003545C>T	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.185C>T	10.37:g.119003545C>T	ENSP00000298472:p.Thr62Met					SLC18A2_uc009xyy.1_Translation_Start_Site	p.T62M	NM_003054	NP_003045	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	3	216	+		Colorectal(252;0.19)	62			Lumenal, vesicle (Potential).		B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	ENST00000298472.5	37	c.185C>T	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.871047	0.33069	0.0	3.49E-4	ENSG00000165646	ENST00000298472	T	0.03982	3.74	5.82	5.82	0.92795	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.268601	0.40640	N	0.001041	T	0.11110	0.0271	L	0.32530	0.975	0.38217	D	0.940652	D	0.69078	0.997	P	0.56788	0.806	T	0.15009	-1.0452	10	0.33141	T	0.24	-28.1579	18.2891	0.90123	0.0:1.0:0.0:0.0	.	62	Q05940	VMAT2_HUMAN	M	62	ENSP00000298472:T62M	ENSP00000298472:T62M	T	+	2	0	SLC18A2	118993535	0.997000	0.39634	0.961000	0.40146	0.036000	0.12997	3.803000	0.55560	2.756000	0.94617	0.563000	0.77884	ACG		0.493	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054	
CLRN3	119467	broad.mit.edu	37	10	129682096	129682096	+	Silent	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr10:129682096C>T	ENST00000368671.3	-	2	435	c.273G>A	c.(271-273)tcG>tcA	p.S91S		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	91						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				GGATAGTCACCGAATGCAGAG	0.448																																						uc001lka.1																			0				skin(1)	1						c.(271-273)TCG>TCA		clarin 3							131.0	122.0	125.0					10																	129682096		2203	4300	6503	SO:0001819	synonymous_variant	119467					integral to membrane		g.chr10:129682096C>T	BC029478	CCDS7656.1	10q26.2	2006-11-24	2006-11-23	2006-11-23	ENSG00000180745	ENSG00000180745			20795	protein-coding gene	gene with protein product			"""transmembrane protein 12"""	TMEM12		12145752, 12080385	Standard	NM_152311		Approved	MGC32871, USH3AL1	uc001lka.1	Q8NCR9	OTTHUMG00000019253	ENST00000368671.3:c.273G>A	10.37:g.129682096C>T						CLRN3_uc001ljz.1_Silent_p.S23S	p.S91S	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN			2	436	-		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)	91					Q6MZX8	Silent	SNP	ENST00000368671.3	37	c.273G>A	CCDS7656.1																																																																																				0.448	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050987.1	NM_152311	
OR51G1	79324	broad.mit.edu	37	11	4945520	4945520	+	Missense_Mutation	SNP	G	G	A	rs376397711		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr11:4945520G>A	ENST00000321961.2	-	1	117	c.50C>T	c.(49-51)aCg>aTg	p.T17M	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGAAGCCCGTCAGGAAGAA	0.458																																						uc010qyr.1																			0				ovary(1)|skin(1)	2						c.(49-51)ACG>ATG		olfactory receptor, family 51, subfamily G,		G	MET/THR	0,4402		0,0,2201	56.0	54.0	55.0		50	1.3	0.9	11		55	1,8595	1.2+/-3.3	0,1,4297	no	missense	OR51G1	NM_001005237.1	81	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	17/322	4945520	1,12997	2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4945520G>A	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.50C>T	11.37:g.4945520G>A	ENSP00000322546:p.Thr17Met						p.T17M	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	50	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	17			Extracellular (Potential).		B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.50C>T	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	G	4.192	0.034282	0.08101	0.0	1.16E-4	ENSG00000176879	ENST00000321961	T	0.00301	8.21	4.32	1.28	0.21552	.	0.175198	0.27245	U	0.020246	T	0.00144	0.0004	L	0.38953	1.18	0.21527	N	0.999659	B	0.31100	0.308	B	0.19391	0.025	T	0.39354	-0.9618	10	0.51188	T	0.08	.	8.9735	0.35921	0.3533:0.0:0.6467:0.0	.	17	Q8NGK1	O51G1_HUMAN	M	17	ENSP00000322546:T17M	ENSP00000322546:T17M	T	-	2	0	OR51G1	4902096	0.000000	0.05858	0.893000	0.35052	0.262000	0.26303	-0.465000	0.06680	0.123000	0.18342	-1.151000	0.01829	ACG		0.458	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237	
OR51A2	401667	broad.mit.edu	37	11	4976936	4976936	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr11:4976936A>G	ENST00000380371.1	-	1	7	c.8T>C	c.(7-9)aTt>aCt	p.I3T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTGTTGATAATGGACATGAT	0.428																																						uc010qyt.1																			0					0						c.(7-9)ATT>ACT		olfactory receptor, family 51, subfamily A,							49.0	49.0	49.0					11																	4976936		2166	4279	6445	SO:0001583	missense	401667				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4976936A>G	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"""GPCR / Class A : Olfactory receptors"""	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.8T>C	11.37:g.4976936A>G	ENSP00000369729:p.Ile3Thr						p.I3T	NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	8	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	3			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000380371.1	37	c.8T>C	CCDS31368.1	.	.	.	.	.	.	.	.	.	.	-	0.450	-0.894244	0.02491	.	.	ENSG00000205496	ENST00000380371	T	0.00333	8.07	2.58	0.18	0.15068	.	.	.	.	.	T	0.00144	0.0004	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.05835	-1.0861	9	0.17369	T	0.5	.	4.3154	0.10991	0.6512:0.0:0.3488:0.0	.	3	Q8NGJ7	O51A2_HUMAN	T	3	ENSP00000369729:I3T	ENSP00000369729:I3T	I	-	2	0	OR51A2	4933512	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.430000	0.02434	0.223000	0.20920	0.403000	0.27427	ATT		0.428	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748	
MS4A7	58475	broad.mit.edu	37	11	60161321	60161321	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr11:60161321G>A	ENST00000300184.3	+	7	906	c.710G>A	c.(709-711)cGg>cAg	p.R237Q	MS4A14_ENST00000395001.1_5'Flank|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000531783.1_5'Flank|MS4A7_ENST00000358246.1_Missense_Mutation_p.R192Q|MS4A14_ENST00000300187.6_5'Flank|MS4A7_ENST00000534016.1_Missense_Mutation_p.R192Q|MS4A14_ENST00000395005.2_5'Flank|MS4A7_ENST00000530234.2_Intron	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	237						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						AGTTCTTCACGGTCTTGGATA	0.373																																						uc001npe.2																			0				ovary(1)|central_nervous_system(1)	2						c.(709-711)CGG>CAG		membrane-spanning 4-domains, subfamily A, member							101.0	100.0	100.0					11																	60161321		2203	4300	6503	SO:0001583	missense	58475					integral to membrane	receptor activity	g.chr11:60161321G>A	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.710G>A	11.37:g.60161321G>A	ENSP00000300184:p.Arg237Gln					MS4A7_uc001npf.2_Missense_Mutation_p.R237Q|MS4A7_uc001npg.2_Missense_Mutation_p.R192Q|MS4A7_uc001nph.2_Missense_Mutation_p.R192Q|MS4A14_uc001npi.2_Intron	p.R237Q	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN			7	855	+			237			Cytoplasmic (Potential).		A6NP53|Q6IAG8	Missense_Mutation	SNP	ENST00000300184.3	37	c.710G>A	CCDS7985.1	.	.	.	.	.	.	.	.	.	.	G	7.348	0.622277	0.14193	.	.	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016	T;T;T	0.17213	3.05;2.29;2.29	3.58	-6.55	0.01854	.	13.363400	0.00777	N	0.001246	T	0.07369	0.0186	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27191	-1.0081	10	0.12430	T	0.62	-18.0862	7.1042	0.25354	0.4651:0.0:0.4238:0.1112	.	192;237	Q9GZW8-2;Q9GZW8	.;MS4A7_HUMAN	Q	237;192;192	ENSP00000300184:R237Q;ENSP00000350983:R192Q;ENSP00000434637:R192Q	ENSP00000300184:R237Q	R	+	2	0	MS4A7	59917897	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.122000	0.10627	-1.935000	0.01049	-1.583000	0.00853	CGG		0.373	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1		
VWCE	220001	broad.mit.edu	37	11	61032003	61032003	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr11:61032003G>A	ENST00000335613.5	-	19	2572	c.2186C>T	c.(2185-2187)gCc>gTc	p.A729V	VWCE_ENST00000535710.1_Missense_Mutation_p.A194V	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	729	VWFC 6. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGCAGGGTCGGCACAGGCCCG	0.592																																						uc001nra.2																			0				ovary(1)	1						c.(2185-2187)GCC>GTC		von Willebrand factor C and EGF domains							51.0	44.0	46.0					11																	61032003		2203	4299	6502	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61032003G>A	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2186C>T	11.37:g.61032003G>A	ENSP00000334186:p.Ala729Val					VWCE_uc001nrb.2_RNA	p.A729V	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			19	2465	-			729			VWFC 6.		A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.2186C>T	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	G	7.538	0.660188	0.14645	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.72725	-0.68;-0.68	4.76	2.89	0.33648	von Willebrand factor, type C (4);	0.807723	0.10258	N	0.696358	T	0.61311	0.2337	L	0.39397	1.21	0.09310	N	1	B	0.23650	0.089	B	0.29077	0.098	T	0.49437	-0.8940	10	0.26408	T	0.33	.	8.1142	0.30933	0.1893:0.0:0.8107:0.0	.	729	Q96DN2	VWCE_HUMAN	V	729;194	ENSP00000334186:A729V;ENSP00000442570:A194V	ENSP00000334186:A729V	A	-	2	0	VWCE	60788579	0.041000	0.20044	0.000000	0.03702	0.163000	0.22366	2.460000	0.45031	0.439000	0.26476	0.555000	0.69702	GCC		0.592	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718	
HTR3A	3359	broad.mit.edu	37	11	113857684	113857684	+	Missense_Mutation	SNP	G	G	A	rs528104456		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr11:113857684G>A	ENST00000504030.2	+	8	1499	c.1054G>A	c.(1054-1056)Gcc>Acc	p.A352T	HTR3A_ENST00000299961.5_Missense_Mutation_p.A337T|HTR3A_ENST00000535865.1_Missense_Mutation_p.A96T|HTR3A_ENST00000355556.2_Missense_Mutation_p.A390T|HTR3A_ENST00000506841.2_Missense_Mutation_p.A384T|HTR3A_ENST00000375498.2_Missense_Mutation_p.A358T			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	352					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.A384T(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	GGAGAGAATCGCCTGGCTACT	0.587													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17996	0.0		0.0	False		,,,				2504	0.0					uc010rxb.1																			1	Substitution - Missense(1)		endometrium(1)		0						c.(1168-1170)GCC>ACC		5-hydroxytryptamine (serotonin) receptor 3A	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						47.0	45.0	46.0					11																	113857684		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857684G>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1054G>A	11.37:g.113857684G>A	ENSP00000424189:p.Ala352Thr					HTR3A_uc010rxa.1_Missense_Mutation_p.A358T|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.A337T	p.A390T	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	7	1401	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	352			Cytoplasmic (Potential).		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.1168G>A		.	.	.	.	.	.	.	.	.	.	G	10.48	1.363142	0.24684	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;T;D;T;D;D	0.85088	-1.94;-0.59;-1.94;-0.59;-1.94;-1.94	5.37	-1.01	0.10169	.	0.470449	0.25978	N	0.027093	T	0.74711	0.3752	L	0.39633	1.23	0.20074	N	0.999934	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.12156	0.004;0.002;0.007	T	0.63216	-0.6687	10	0.66056	D	0.02	-21.0874	6.3549	0.21397	0.5467:0.0:0.326:0.1272	.	337;390;358	B4DSY6;G5E986;Q7KZM7	.;.;.	T	352;390;358;384;96;337	ENSP00000424189:A352T;ENSP00000347754:A390T;ENSP00000364648:A358T;ENSP00000424776:A384T;ENSP00000437776:A96T;ENSP00000299961:A337T	ENSP00000299961:A337T	A	+	1	0	HTR3A	113362894	0.002000	0.14202	0.000000	0.03702	0.009000	0.06853	0.015000	0.13355	-0.386000	0.07821	-0.254000	0.11334	GCC		0.587	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869	
HECTD4	283450	broad.mit.edu	37	12	112721040	112721040	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr12:112721040C>T	ENST00000430131.2	-	8	1365	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	HECTD4_ENST00000550722.1_Missense_Mutation_p.E324K|HECTD4_ENST00000377560.5_Missense_Mutation_p.E324K			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	74					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTGGCAGATTCGCCCTCTTTT	0.433																																						uc009zwc.2																			0				ovary(1)|lung(1)	2						c.(220-222)GAA>AAA		chromosome 12 open reading frame 51							107.0	96.0	100.0					12																	112721040		1890	4117	6007	SO:0001583	missense	283450							g.chr12:112721040C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.220G>A	12.37:g.112721040C>T	ENSP00000404379:p.Glu74Lys						p.E74K	NM_001109662	NP_001103132					2	238	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.220G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.194523	0.94960	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.51574	0.72;0.77;0.7	5.75	5.75	0.90469	.	.	.	.	.	T	0.26846	0.0657	N	0.08118	0	0.80722	D	1	P	0.44006	0.824	B	0.25140	0.058	T	0.34925	-0.9809	9	0.87932	D	0	.	19.9501	0.97195	0.0:1.0:0.0:0.0	.	74	Q9Y4D8	K0614_HUMAN	K	324;74;324	ENSP00000366783:E324K;ENSP00000404379:E74K;ENSP00000449784:E324K	ENSP00000366783:E324K	E	-	1	0	C12orf51	111205423	1.000000	0.71417	0.963000	0.40424	0.979000	0.70002	7.456000	0.80751	2.732000	0.93576	0.655000	0.94253	GAA		0.433	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	
RB1	5925	broad.mit.edu	37	13	48951144	48951144	+	Nonsense_Mutation	SNP	C	C	T	rs4151534		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr13:48951144C>T	ENST00000267163.4	+	13	1444	c.1306C>T	c.(1306-1308)Cag>Tag	p.Q436*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	436	Domain A.|Pocket; binds T and E1A.		Q -> K (in dbSNP:rs4151534). {ECO:0000269|Ref.7}.		androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGCTGTGGGACAGGGTTGTGT	0.353		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		23	Whole gene deletion(15)|Unknown(8)	p.?(7)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CI030636	RB1	I	rs4151534	c.(1306-1308)CAG>TAG		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						111.0	120.0	117.0					13																	48951144		2203	4299	6502	SO:0001587	stop_gained	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48951144C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1306C>T	13.37:g.48951144C>T	ENSP00000267163:p.Gln436*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_Nonsense_Mutation_p.Q137*	p.Q436*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	13	1472	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	436			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1306C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	39	7.634573	0.98403	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.93	5.93	0.95920	.	0.057982	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	.	.	.	X	415;436	.	ENSP00000267163:Q436X	Q	+	1	0	RB1	47849145	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.809000	0.75211	2.814000	0.96858	0.591000	0.81541	CAG		0.353	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
VRTN	55237	broad.mit.edu	37	14	74825422	74825422	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr14:74825422A>G	ENST00000256362.4	+	2	2177	c.1936A>G	c.(1936-1938)Atc>Gtc	p.I646V		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	646					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GATGGACATGATCGCTACCAC	0.617																																						uc001xpw.3																			0					0						c.(1936-1938)ATC>GTC		hypothetical protein LOC55237							69.0	53.0	59.0					14																	74825422		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74825422A>G	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1936A>G	14.37:g.74825422A>G	ENSP00000256362:p.Ile646Val						p.I646V	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00147)	2	2127	+			646					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.1936A>G	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	A	0.077	-1.190784	0.01607	.	.	ENSG00000133980	ENST00000256362	T	0.40756	1.02	4.28	0.897	0.19258	.	0.350529	0.24686	U	0.036440	T	0.18002	0.0432	N	0.04508	-0.205	0.23758	N	0.99693	B	0.11235	0.004	B	0.06405	0.002	T	0.24190	-1.0167	10	0.10377	T	0.69	-11.8134	12.2008	0.54323	0.3852:0.6148:0.0:0.0	.	646	Q9H8Y1	VRTN_HUMAN	V	646	ENSP00000256362:I646V	ENSP00000256362:I646V	I	+	1	0	VRTN	73895175	1.000000	0.71417	0.454000	0.27019	0.097000	0.18754	3.356000	0.52269	0.012000	0.14892	0.397000	0.26171	ATC		0.617	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228	
ATP10A	57194	broad.mit.edu	37	15	25925003	25925003	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr15:25925003G>A	ENST00000356865.6	-	21	4096	c.3985C>T	c.(3985-3987)Cgc>Tgc	p.R1329C		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1329					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTCGGGAGGCGTCCCTGAGCA	0.607																																						uc010ayu.2																			0				pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(3985-3987)CGC>TGC		ATPase, class V, type 10A							71.0	73.0	73.0					15																	25925003		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25925003G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3985C>T	15.37:g.25925003G>A	ENSP00000349325:p.Arg1329Cys						p.R1329C	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	21	4091	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1329			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.3985C>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	9.495	1.101615	0.20632	.	.	ENSG00000206190	ENST00000356865	T	0.39997	1.05	5.79	0.756	0.18421	.	2.634810	0.01113	N	0.005604	T	0.25791	0.0628	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30650	-0.9971	10	0.42905	T	0.14	-0.325	11.4608	0.50208	0.3:0.0:0.7:0.0	.	1329	O60312	AT10A_HUMAN	C	1329	ENSP00000349325:R1329C	ENSP00000349325:R1329C	R	-	1	0	ATP10A	23476096	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.037000	0.30241	-0.100000	0.12241	-1.708000	0.00717	CGC		0.607	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
RASGRP1	10125	broad.mit.edu	37	15	38818585	38818585	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr15:38818585G>A	ENST00000310803.5	-	3	418	c.241C>T	c.(241-243)Cga>Tga	p.R81*	RP11-275I4.1_ENST00000559544.1_RNA|RASGRP1_ENST00000450598.2_Nonsense_Mutation_p.R81*|RASGRP1_ENST00000561180.1_Nonsense_Mutation_p.R132*|RASGRP1_ENST00000559830.1_Nonsense_Mutation_p.R81*|RASGRP1_ENST00000539159.1_Nonsense_Mutation_p.R33*|RASGRP1_ENST00000558164.1_Nonsense_Mutation_p.R81*	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	81	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.|Ras exchanger motif region; required for transforming activity. {ECO:0000250}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGGTTACTTCGACACAGGTTT	0.458																																						uc001zke.3																			0				large_intestine(1)|ovary(1)	2						c.(241-243)CGA>TGA		RAS guanyl releasing protein 1 isoform a							118.0	115.0	116.0					15																	38818585		1948	4140	6088	SO:0001587	stop_gained	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38818585G>A	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.241C>T	15.37:g.38818585G>A	ENSP00000310244:p.Arg81*					RASGRP1_uc001zkd.3_Nonsense_Mutation_p.R81*	p.R81*	NM_005739	NP_005730	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	3	419	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	81			Ras exchanger motif region; required for transforming activity (By similarity).|N-terminal Ras-GEF.		Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Nonsense_Mutation	SNP	ENST00000310803.5	37	c.241C>T	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013932	0.54468	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	.	.	.	4.62	4.62	0.57501	.	0.342954	0.31566	N	0.007436	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1592	13.5185	0.61553	0.0:0.0:0.8435:0.1565	.	.	.	.	X	81;81;81;81;33;81;81	.	ENSP00000310244:R81X	R	-	1	2	RASGRP1	36605877	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	2.069000	0.41481	2.395000	0.81488	0.462000	0.41574	CGA		0.458	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739	
FAM86A	196483	broad.mit.edu	37	16	5143514	5143514	+	Missense_Mutation	SNP	G	G	A	rs537216471		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr16:5143514G>A	ENST00000427587.4	-	3	279	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	FAM86A_ENST00000587133.1_Intron|FAM86A_ENST00000458008.4_Missense_Mutation_p.R71W	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	71						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						AGAAAGCACCGGGCATATTTG	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		19614	0.0		0.0	False		,,,				2504	0.001					uc002cyo.2																			0					0						c.(211-213)CGG>TGG		hypothetical protein LOC196483 isoform 1							71.0	66.0	68.0					16																	5143514		2197	4300	6497	SO:0001583	missense	196483							g.chr16:5143514G>A	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.211C>T	16.37:g.5143514G>A	ENSP00000398502:p.Arg71Trp					FAM86A_uc002cyp.2_Missense_Mutation_p.R71W	p.R71W	NM_201400	NP_958802	Q96G04	FA86A_HUMAN			3	260	-			71					D3DUF0|Q96S85	Missense_Mutation	SNP	ENST00000427587.4	37	c.211C>T	CCDS10529.1	.	.	.	.	.	.	.	.	.	.	G	4.650	0.120864	0.08881	.	.	ENSG00000118894	ENST00000458008;ENST00000427587	T;T	0.19669	2.13;2.13	4.06	2.07	0.26955	.	0.148508	0.42964	U	0.000627	T	0.06826	0.0174	N	0.01874	-0.695	0.09310	N	1	B;B	0.25850	0.136;0.017	B;B	0.14023	0.01;0.002	T	0.26573	-1.0099	10	0.54805	T	0.06	.	6.739	0.23424	0.2225:0.0:0.7775:0.0	.	71;71	Q96G04-2;Q96G04	.;FA86A_HUMAN	W	71	ENSP00000389710:R71W;ENSP00000398502:R71W	ENSP00000398502:R71W	R	-	1	2	FAM86A	5083515	0.468000	0.25839	0.003000	0.11579	0.236000	0.25371	3.143000	0.50608	0.378000	0.24764	-0.463000	0.05309	CGG		0.562	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400	
DNAH3	55567	broad.mit.edu	37	16	20976074	20976074	+	Silent	SNP	C	C	T	rs149630157	byFrequency	TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr16:20976074C>T	ENST00000261383.3	-	53	9131	c.9132G>A	c.(9130-9132)acG>acA	p.T3044T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3044					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GATCCCCTAACGTGTGGCTGA	0.498																																						uc010vbe.1																			0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(9130-9132)ACG>ACA		dynein, axonemal, heavy chain 3		C		7,4395	12.9+/-30.5	0,7,2194	75.0	67.0	70.0		9132	-11.2	0.0	16	dbSNP_134	70	0,8600		0,0,4300	no	coding-synonymous	DNAH3	NM_017539.1		0,7,6494	TT,TC,CC		0.0,0.159,0.0538		3044/4117	20976074	7,12995	2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20976074C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9132G>A	16.37:g.20976074C>T						DNAH3_uc010vbd.1_Silent_p.T479T	p.T3044T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	9132	-			3044					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.9132G>A	CCDS10594.1																																																																																				0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
KIFC3	3801	broad.mit.edu	37	16	57794781	57794781	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr16:57794781T>C	ENST00000379655.4	-	16	2346	c.2089A>G	c.(2089-2091)Atc>Gtc	p.I697V	KIFC3_ENST00000445690.2_Missense_Mutation_p.I697V|KIFC3_ENST00000421376.2_Missense_Mutation_p.I558V|KIFC3_ENST00000541240.1_Missense_Mutation_p.I719V|KIFC3_ENST00000543930.1_Missense_Mutation_p.I555V|KIFC3_ENST00000562903.1_Missense_Mutation_p.I558V|KIFC3_ENST00000465878.2_Missense_Mutation_p.I558V|KIFC3_ENST00000540079.2_Missense_Mutation_p.I595V|KIFC3_ENST00000539578.1_Missense_Mutation_p.I639V	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	697	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GACTTGTTGATGTGCTGCGCC	0.682																																						uc002emp.2																			0				central_nervous_system(2)|ovary(1)	3						c.(2089-2091)ATC>GTC		kinesin family member C3 isoform 1							37.0	39.0	38.0					16																	57794781		2198	4299	6497	SO:0001583	missense	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57794781T>C	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.2089A>G	16.37:g.57794781T>C	ENSP00000368976:p.Ile697Val					KIFC3_uc010vhw.1_Missense_Mutation_p.I595V|KIFC3_uc002emn.2_RNA|KIFC3_uc002emm.2_Missense_Mutation_p.I558V|KIFC3_uc010vhx.1_Missense_Mutation_p.I555V|KIFC3_uc010cdf.2_Missense_Mutation_p.I558V|KIFC3_uc002emo.3_Missense_Mutation_p.I558V|KIFC3_uc010vhy.1_Missense_Mutation_p.I639V|KIFC3_uc002emq.2_Missense_Mutation_p.I697V|KIFC3_uc010vhz.1_Missense_Mutation_p.I719V	p.I697V	NM_005550	NP_005541	Q9BVG8	KIFC3_HUMAN			16	2286	-		all_neural(199;0.224)	697			Kinesin-motor.		A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.2089A>G	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	T	23.1	4.372064	0.82573	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	D;D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	4.99	4.99	0.66335	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.91432	0.7296	M	0.88640	2.97	0.80722	D	1	P;P;D;P;P;P	0.54047	0.689;0.863;0.964;0.956;0.689;0.643	P;P;P;D;P;P	0.63488	0.691;0.689;0.793;0.915;0.7;0.591	D	0.93003	0.6425	10	0.87932	D	0	.	13.8649	0.63583	0.0:0.0:0.0:1.0	.	719;639;555;595;697;558	B7Z484;F5H4I9;B7Z896;F5H3M2;Q9BVG8;A8K6S2	.;.;.;.;KIFC3_HUMAN;.	V	697;697;558;719;595;555;639	ENSP00000368976:I697V;ENSP00000401696:I697V;ENSP00000396399:I558V;ENSP00000442008:I719V;ENSP00000438805:I595V;ENSP00000444012:I555V;ENSP00000444884:I639V	ENSP00000368976:I697V	I	-	1	0	KIFC3	56352282	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	8.015000	0.88690	1.897000	0.54924	0.172000	0.16884	ATC		0.682	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550	
CHST6	4166	broad.mit.edu	37	16	75513386	75513386	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr16:75513386C>T	ENST00000332272.4	-	3	520	c.341G>A	c.(340-342)cGc>cAc	p.R114H	CHST6_ENST00000390664.2_Missense_Mutation_p.R114H|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	114					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGGTTGCGGCGCCAAGGCAG	0.672																																						uc002fef.2																			0					0						c.(340-342)CGC>CAC		carbohydrate (N-acetylglucosamine 6-O)							50.0	44.0	46.0					16																	75513386		2198	4298	6496	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75513386C>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.341G>A	16.37:g.75513386C>T	ENSP00000328983:p.Arg114His					CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.R114H	p.R114H	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN			3	521	-			114			Lumenal (Potential).		D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.341G>A	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714535	0.30413	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.82344	-1.6;-1.6	4.56	3.36	0.38483	Sulfotransferase domain (1);	0.518660	0.17967	N	0.155986	T	0.76047	0.3933	L	0.47716	1.5	0.09310	N	0.999994	B	0.09022	0.002	B	0.13407	0.009	T	0.63413	-0.6643	10	0.31617	T	0.26	.	10.7793	0.46369	0.0:0.8857:0.0:0.1143	.	114	Q9GZX3	CHST6_HUMAN	H	114	ENSP00000328983:R114H;ENSP00000375079:R114H	ENSP00000328983:R114H	R	-	2	0	CHST6	74070887	0.706000	0.27856	0.996000	0.52242	0.981000	0.71138	1.533000	0.36040	2.078000	0.62432	0.591000	0.81541	CGC		0.672	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615	
ADAMTS18	170692	broad.mit.edu	37	16	77355016	77355016	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr16:77355016C>G	ENST00000282849.5	-	15	2665	c.2247G>C	c.(2245-2247)aaG>aaC	p.K749N		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	749	Cys-rich.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTTTATAAAACTTGCAAGTTG	0.383																																						uc002ffc.3																			0				large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(2245-2247)AAG>AAC		ADAM metallopeptidase with thrombospondin type 1							123.0	122.0	123.0					16																	77355016		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77355016C>G	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2247G>C	16.37:g.77355016C>G	ENSP00000282849:p.Lys749Asn					ADAMTS18_uc010chc.1_Missense_Mutation_p.K337N|ADAMTS18_uc002ffe.1_Missense_Mutation_p.K445N	p.K749N	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			15	2666	-			749			Cys-rich.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.2247G>C	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022211	0.54683	.	.	ENSG00000140873	ENST00000282849	T	0.68181	-0.31	5.49	4.54	0.55810	.	0.222054	0.45867	D	0.000328	T	0.67979	0.2951	M	0.73962	2.25	0.45852	D	0.998713	B;B	0.22800	0.014;0.075	B;B	0.28784	0.023;0.094	T	0.67554	-0.5641	10	0.52906	T	0.07	.	13.1984	0.59752	0.0:0.9238:0.0:0.0762	.	749;749	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	N	749	ENSP00000282849:K749N	ENSP00000282849:K749N	K	-	3	2	ADAMTS18	75912517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.194000	0.32174	1.331000	0.45412	0.650000	0.86243	AAG		0.383	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		
KRT16	3868	broad.mit.edu	37	17	39767345	39767345	+	Silent	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr17:39767345G>A	ENST00000301653.4	-	4	973	c.909C>T	c.(907-909)gaC>gaT	p.D303D		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	303	Coil 2.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				AGGTCTCAGCGTCTCTGCGGT	0.607																																						uc002hxg.3																			0				skin(1)	1						c.(907-909)GAC>GAT		keratin 16							156.0	143.0	147.0					17																	39767345		2203	4300	6503	SO:0001819	synonymous_variant	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39767345G>A	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.909C>T	17.37:g.39767345G>A						JUP_uc010wfs.1_Intron	p.D303D	NM_005557	NP_005548	P08779	K1C16_HUMAN			4	1048	-		Breast(137;0.000307)	303			Rod.|Coil 2.		A8K488|P30654|Q16402|Q9UBG8	Silent	SNP	ENST00000301653.4	37	c.909C>T	CCDS11401.1																																																																																				0.607	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557	
CILP2	148113	broad.mit.edu	37	19	19656153	19656153	+	Silent	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr19:19656153G>A	ENST00000291495.5	+	8	2884	c.2799G>A	c.(2797-2799)ccG>ccA	p.P933P	CILP2_ENST00000586018.1_Silent_p.P939P	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	933						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGCCCAACCCGCAGGAGTTCC	0.662																																						uc002nmv.3																			0				ovary(1)	1						c.(2797-2799)CCG>CCA		cartilage intermediate layer protein 2							27.0	21.0	23.0					19																	19656153		2202	4300	6502	SO:0001819	synonymous_variant	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19656153G>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2799G>A	19.37:g.19656153G>A						CILP2_uc002nmw.3_Silent_p.P939P	p.P933P	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			8	2884	+			933					Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	37	c.2799G>A	CCDS12405.1																																																																																				0.662	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221	
LMTK3	114783	broad.mit.edu	37	19	49013377	49013377	+	Silent	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr19:49013377C>T	ENST00000600059.1	-	3	491	c.264G>A	c.(262-264)gcG>gcA	p.A88A	LMTK3_ENST00000270238.3_Silent_p.A117A			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	88					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AGGTCTCCTCCGCAGGGGGAG	0.622																																						uc002pjk.2																			0				lung(5)|central_nervous_system(1)	6						c.(349-351)GCG>GCA		lemur tyrosine kinase 3							37.0	42.0	40.0					19																	49013377		2026	4178	6204	SO:0001819	synonymous_variant	114783							g.chr19:49013377C>T	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.264G>A	19.37:g.49013377C>T							p.A117A	NM_001080434	NP_001073903				OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	4	351	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Silent	SNP	ENST00000600059.1	37	c.351G>A																																																																																					0.622	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895	
ZNF71	58491	broad.mit.edu	37	19	57133286	57133286	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr19:57133286G>A	ENST00000328070.6	+	3	865	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	211					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)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCACACGGGCGAGAAGCCGTA	0.657																																						uc002qnm.3																			0				skin(1)	1						c.(631-633)GAG>AAG		zinc finger protein 71							46.0	40.0	42.0					19																	57133286		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133286G>A	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.631G>A	19.37:g.57133286G>A	ENSP00000328245:p.Glu211Lys						p.E211K	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	869	+			211					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.631G>A	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174399	0.78452	.	.	ENSG00000197951	ENST00000328070	T	0.24350	1.86	3.47	2.39	0.29439	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29684	0.0741	L	0.31578	0.945	0.33052	D	0.532899	D	0.76494	0.999	P	0.56514	0.8	T	0.41945	-0.9480	9	0.72032	D	0.01	.	10.0035	0.41942	0.1067:0.0:0.8932:0.0	.	211	Q9NQZ8	ZNF71_HUMAN	K	211	ENSP00000328245:E211K	ENSP00000328245:E211K	E	+	1	0	ZNF71	61825098	1.000000	0.71417	0.978000	0.43139	0.605000	0.37080	4.153000	0.58118	1.777000	0.52277	0.561000	0.74099	GAG		0.657	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216	
NBAS	51594	broad.mit.edu	37	2	15493765	15493765	+	Missense_Mutation	SNP	C	C	T	rs140188229		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:15493765C>T	ENST00000281513.5	-	34	4026	c.4001G>A	c.(4000-4002)cGt>cAt	p.R1334H	NBAS_ENST00000441750.1_Missense_Mutation_p.R1214H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1334					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAGCTCTTGACGAGTGGCCAA	0.453																																						uc002rcc.1																			0				ovary(2)|liver(1)|skin(1)	4						c.(4000-4002)CGT>CAT		neuroblastoma-amplified protein		C	HIS/ARG	0,4406		0,0,2203	179.0	170.0	173.0		4001	5.0	0.3	2	dbSNP_134	173	1,8599	1.2+/-3.3	0,1,4299	no	missense	NBAS	NM_015909.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1334/2372	15493765	1,13005	2203	4300	6503	SO:0001583	missense	51594							g.chr2:15493765C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4001G>A	2.37:g.15493765C>T	ENSP00000281513:p.Arg1334His					NBAS_uc010exl.1_Missense_Mutation_p.R406H|NBAS_uc002rcd.1_RNA	p.R1334H	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			34	4027	-			1334					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.4001G>A	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.268487|4.268487	0.80469|0.80469	0.0|0.0	1.16E-4|1.16E-4	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.33654|.	1.4;1.4|.	5.83|5.83	4.96|4.96	0.65561|0.65561	Secretory pathway Sec39 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74612|0.74612	0.3739|0.3739	M|M	0.77103|0.77103	2.36|2.36	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.75808|0.75808	-0.3187|-0.3187	10|5	0.87932|.	D|.	0|.	.|.	14.0714|14.0714	0.64863|0.64863	0.0:0.9265:0.0:0.0735|0.0:0.9265:0.0:0.0735	.|.	1214;1334|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	H|I	1214;1334|382	ENSP00000413201:R1214H;ENSP00000281513:R1334H|.	ENSP00000281513:R1334H|.	R|V	-|-	2|1	0|0	NBAS|NBAS	15411216|15411216	0.998000|0.998000	0.40836|0.40836	0.337000|0.337000	0.25536|0.25536	0.922000|0.922000	0.55478|0.55478	6.351000|6.351000	0.73022|0.73022	1.480000|1.480000	0.48289|0.48289	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.453	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	
CYP26B1	56603	broad.mit.edu	37	2	72360330	72360330	+	Missense_Mutation	SNP	C	C	T	rs534997827		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:72360330C>T	ENST00000001146.2	-	5	1171	c.968G>A	c.(967-969)cGg>cAg	p.R323Q	CYP26B1_ENST00000412253.1_Missense_Mutation_p.R132Q|CYP26B1_ENST00000546307.1_Missense_Mutation_p.R248Q	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	323					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CAGCTCATCCCGCAGCTTCTC	0.657																																						uc002sih.1																			0				skin(2)	2						c.(967-969)CGG>CAG		cytochrome P450, family 26, subfamily b,							27.0	26.0	26.0					2																	72360330		2202	4298	6500	SO:0001583	missense	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72360330C>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.968G>A	2.37:g.72360330C>T	ENSP00000001146:p.Arg323Gln					CYP26B1_uc010yra.1_Missense_Mutation_p.R306Q|CYP26B1_uc010yrb.1_Missense_Mutation_p.R248Q	p.R323Q	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN			5	968	-			323					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	c.968G>A	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	C	36	5.966062	0.97156	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	T;T;T	0.71222	-0.55;-0.55;-0.55	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.75095	0.3803	L	0.39397	1.21	0.80722	D	1	D;D;D	0.55605	0.972;0.972;0.972	P;P;P	0.56127	0.792;0.771;0.771	T	0.71777	-0.4490	10	0.34782	T	0.22	-6.847	18.6392	0.91389	0.0:1.0:0.0:0.0	.	248;306;323	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	Q	323;132;248	ENSP00000001146:R323Q;ENSP00000401465:R132Q;ENSP00000443304:R248Q	ENSP00000001146:R323Q	R	-	2	0	CYP26B1	72213838	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.925000	0.63425	2.833000	0.97629	0.650000	0.86243	CGG		0.657	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885	
ST6GAL2	84620	broad.mit.edu	37	2	107460088	107460088	+	Missense_Mutation	SNP	C	C	T	rs377166692		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:107460088C>T	ENST00000409382.3	-	2	956	c.346G>A	c.(346-348)Gtg>Atg	p.V116M	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.V116M|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.V116M	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	116					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTTCTCCCCACCTGGGATGAA	0.547																																						uc002tdq.2																			0				pancreas(6)|ovary(4)|skin(1)	11						c.(346-348)GTG>ATG		ST6 beta-galactosamide		C	MET/VAL,MET/VAL,MET/VAL	1,4381		0,1,2190	64.0	76.0	72.0		346,346,346	-2.2	0.1	2		72	0,8590		0,0,4295	no	missense,missense,missense	ST6GAL2	NM_001142351.1,NM_001142352.1,NM_032528.2	21,21,21	0,1,6485	TT,TC,CC		0.0,0.0228,0.0077	benign,benign,benign	116/530,116/467,116/530	107460088	1,12971	2191	4295	6486	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460088C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.346G>A	2.37:g.107460088C>T	ENSP00000386942:p.Val116Met					ST6GAL2_uc002tdr.2_Missense_Mutation_p.V116M|ST6GAL2_uc002tds.3_Missense_Mutation_p.V116M	p.V116M	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			2	465	-			116			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.346G>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241268	0.22711	2.28E-4	0.0	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.33216	2.44;2.44;1.42	5.54	-2.21	0.06973	.	1.023340	0.07733	N	0.945527	T	0.15522	0.0374	N	0.19112	0.55	0.09310	N	1	B;B	0.24920	0.114;0.022	B;B	0.18561	0.022;0.01	T	0.25398	-1.0133	10	0.51188	T	0.08	-4.6552	2.0195	0.03505	0.1169:0.1891:0.355:0.3391	.	116;116	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	M	116	ENSP00000355273:V116M;ENSP00000386942:V116M;ENSP00000387332:V116M	ENSP00000355273:V116M	V	-	1	0	ST6GAL2	106826520	0.001000	0.12720	0.124000	0.21820	0.526000	0.34562	-0.515000	0.06290	-0.385000	0.07833	0.655000	0.94253	GTG		0.547	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528	
ACTR3	10096	broad.mit.edu	37	2	114691915	114691915	+	Silent	SNP	C	C	T	rs371867071		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:114691915C>T	ENST00000263238.2	+	6	812	c.492C>T	c.(490-492)acC>acT	p.T164T	ACTR3_ENST00000536059.1_Silent_p.T102T|ACTR3_ENST00000535589.2_Silent_p.T113T	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	164					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron differentiation (GO:0045666)|regulation of myosin II filament organization (GO:0043519)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|spindle localization (GO:0051653)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|hemidesmosome (GO:0030056)|lamellipodium (GO:0030027)|membrane (GO:0016020)|podosome (GO:0002102)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						GGACGTTGACCGGTACGGTAA	0.418																																						uc002tkx.1																			0				skin(1)	1						c.(490-492)ACC>ACT		ARP3 actin-related protein 3 homolog		C		0,4406		0,0,2203	263.0	239.0	247.0		492	-2.5	1.0	2		247	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACTR3	NM_005721.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		164/419	114691915	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10096				cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding	g.chr2:114691915C>T	AF006083	CCDS33277.1, CCDS63000.1	2q14.1	2010-07-20	2001-11-28		ENSG00000115091	ENSG00000115091			170	protein-coding gene	gene with protein product		604222	"""ARP3 (actin-related protein 3, yeast) homolog"""			9230079	Standard	NM_005721		Approved	ARP3	uc002tkx.2	P61158	OTTHUMG00000153497	ENST00000263238.2:c.492C>T	2.37:g.114691915C>T						ACTR3_uc010yyc.1_Silent_p.T102T|ACTR3_uc010yyd.1_Silent_p.T113T	p.T164T	NM_005721	NP_005712	P61158	ARP3_HUMAN			6	812	+			164					P32391|Q53QM2	Silent	SNP	ENST00000263238.2	37	c.492C>T	CCDS33277.1																																																																																				0.418	ACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331366.2	NM_005721	
PRPF40A	55660	broad.mit.edu	37	2	153515685	153515685	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:153515685C>T	ENST00000410080.1	-	23	2969	c.2428G>A	c.(2428-2430)Gat>Aat	p.D810N		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	837					cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TGGCTATCATCATCATCTGAA	0.343																																						uc002tyh.3																			0					0						c.(2428-2430)GAT>AAT		formin binding protein 3							95.0	87.0	89.0					2																	153515685		1851	4096	5947	SO:0001583	missense	55660				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding	g.chr2:153515685C>T	AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.2428G>A	2.37:g.153515685C>T	ENSP00000386458:p.Asp810Asn					PRPF40A_uc002tyg.3_Missense_Mutation_p.D266N|PRPF40A_uc010zcd.1_Missense_Mutation_p.D761N	p.D810N	NM_017892	NP_060362	O75400	PR40A_HUMAN			23	2450	-			837					O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Missense_Mutation	SNP	ENST00000410080.1	37	c.2428G>A	CCDS46430.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298562	0.81025	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252;ENST00000359961	T	0.32272	1.46	5.38	5.38	0.77491	.	0.089615	0.85682	D	0.000000	T	0.30541	0.0768	L	0.39898	1.24	0.80722	D	1	P;P	0.40970	0.734;0.734	B;B	0.40165	0.321;0.321	T	0.01889	-1.1253	10	0.27082	T	0.32	-24.5581	19.5019	0.95098	0.0:1.0:0.0:0.0	.	837;810	O75400;E9PFS0	PR40A_HUMAN;.	N	810;819;706;761	ENSP00000386458:D810N	ENSP00000348770:D819N	D	-	1	0	PRPF40A	153223931	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.776000	0.85560	2.697000	0.92050	0.563000	0.77884	GAT		0.343	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333559.2	XM_371575	
STK11IP	114790	broad.mit.edu	37	2	220476376	220476376	+	Missense_Mutation	SNP	G	G	A	rs199930908		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:220476376G>A	ENST00000456909.1	+	18	2245	c.2155G>A	c.(2155-2157)Gct>Act	p.A719T	STK11IP_ENST00000295641.10_Missense_Mutation_p.A730T			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	730					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTTCTCCTCGCTGTGTCTCG	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19742	0.0		0.0	False		,,,				2504	0.0					uc002vml.2																			0				ovary(1)	1						c.(2188-2190)GCT>ACT		LKB1 interacting protein							97.0	110.0	106.0					2																	220476376		2074	4197	6271	SO:0001583	missense	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220476376G>A	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.2155G>A	2.37:g.220476376G>A	ENSP00000389383:p.Ala719Thr						p.A730T	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	18	2231	+		Renal(207;0.0183)	730					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37	c.2188G>A		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	9.679	1.148788	0.21288	.	.	ENSG00000144589	ENST00000456909;ENST00000295641	T;T	0.08282	3.12;3.11	4.7	0.702	0.18110	.	0.365789	0.27901	N	0.017399	T	0.06416	0.0165	L	0.56769	1.78	0.09310	N	1	B	0.31318	0.319	B	0.21151	0.033	T	0.35624	-0.9781	10	0.20519	T	0.43	-1.0735	5.3241	0.15896	0.1884:0.3381:0.4736:0.0	.	730	Q8N1F8	S11IP_HUMAN	T	719;730	ENSP00000389383:A719T;ENSP00000295641:A730T	ENSP00000295641:A730T	A	+	1	0	STK11IP	220184620	0.670000	0.27512	0.155000	0.22561	0.003000	0.03518	0.247000	0.18179	0.218000	0.20820	-1.385000	0.01166	GCT		0.627	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902	
SCG2	7857	broad.mit.edu	37	2	224462380	224462380	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:224462380C>T	ENST00000305409.2	-	2	1853	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCAATTTGTTCCTCTTCCTGC	0.507																																						uc002vnm.2																			0				ovary(1)	1						c.(1621-1623)GAA>AAA		secretogranin II precursor							118.0	108.0	111.0					2																	224462380		2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224462380C>T	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1621G>A	2.37:g.224462380C>T	ENSP00000304133:p.Glu541Lys						p.E541K	NM_003469	NP_003460	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	1754	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	541					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.1621G>A	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	C	5.917	0.353242	0.11182	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.01505	4.82	5.77	3.95	0.45737	.	0.402882	0.26089	N	0.026404	T	0.01976	0.0062	L	0.37630	1.12	0.45837	D	0.998702	B	0.15930	0.015	B	0.21546	0.035	T	0.55296	-0.8163	10	0.29301	T	0.29	.	9.0109	0.36139	0.0:0.773:0.0:0.227	.	541	P13521	SCG2_HUMAN	K	541;401	ENSP00000304133:E541K	ENSP00000304133:E541K	E	-	1	0	SCG2	224170624	0.959000	0.32827	0.876000	0.34364	0.270000	0.26580	2.912000	0.48782	0.759000	0.33084	0.585000	0.79938	GAA		0.507	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469	
MLPH	79083	broad.mit.edu	37	2	238449110	238449110	+	Silent	SNP	C	C	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:238449110C>A	ENST00000264605.3	+	10	1518	c.1224C>A	c.(1222-1224)gcC>gcA	p.A408A	MLPH_ENST00000410032.1_Silent_p.A265A|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Silent_p.A408A|MLPH_ENST00000409373.1_Silent_p.A340A|MLPH_ENST00000338530.4_Silent_p.A380A	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	408					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AGGAGGAAGCCAAGGACGAAA	0.627																																						uc002vwt.2																			0				ovary(1)	1						c.(1222-1224)GCC>GCA		melanophilin isoform 1							78.0	75.0	76.0					2																	238449110		2203	4299	6502	SO:0001819	synonymous_variant	79083						metal ion binding	g.chr2:238449110C>A	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.1224C>A	2.37:g.238449110C>A						MLPH_uc002vws.2_Silent_p.A265A|MLPH_uc010fyt.1_Silent_p.A380A|MLPH_uc002vwu.2_Silent_p.A380A|MLPH_uc002vwv.2_Silent_p.A340A|MLPH_uc002vww.2_Silent_p.A356A|MLPH_uc002vwx.2_Silent_p.A264A|MLPH_uc010fyu.2_Silent_p.A160A	p.A408A	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	10	1451	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	408			Potential.		B3KSS2|B4DKW7|G5E9G5|Q9HA71	Silent	SNP	ENST00000264605.3	37	c.1224C>A	CCDS2518.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.269|0.269	-0.994440|-0.994440	0.02145|0.02145	.|.	.|.	ENSG00000115648|ENSG00000115648	ENST00000436965|ENST00000415753	.|.	.|.	.|.	2.71|2.71	2.71|2.71	0.32032|0.32032	.|.	.|.	.|.	.|.	.|.	T|T	0.61110|0.61110	0.2321|0.2321	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.60000|0.60000	-0.7348|-0.7348	4|4	.|.	.|.	.|.	-7.0745|-7.0745	11.5977|11.5977	0.50984|0.50984	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	Q|K	129|96	.|.	.|.	P|Q	+|+	2|1	0|0	MLPH|MLPH	238113849|238113849	0.001000|0.001000	0.12720|0.12720	0.011000|0.011000	0.14972|0.14972	0.022000|0.022000	0.10575|0.10575	0.020000|0.020000	0.13466|0.13466	1.832000|1.832000	0.53329|0.53329	0.650000|0.650000	0.86243|0.86243	CCA|CAA		0.627	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101	
PTPRT	11122	broad.mit.edu	37	20	41101086	41101086	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr20:41101086C>T	ENST00000373187.1	-	8	1269	c.1270G>A	c.(1270-1272)Gtg>Atg	p.V424M	PTPRT_ENST00000373190.1_Missense_Mutation_p.V424M|PTPRT_ENST00000373201.1_Missense_Mutation_p.V424M|PTPRT_ENST00000373193.3_Missense_Mutation_p.V424M|PTPRT_ENST00000373198.4_Missense_Mutation_p.V424M|PTPRT_ENST00000373184.1_Missense_Mutation_p.V424M|PTPRT_ENST00000356100.2_Missense_Mutation_p.V424M			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	424	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGTACTGCACGGTGAGGTTG	0.607																																						uc002xkg.2																			0				skin(8)|ovary(7)|lung(5)	20						c.(1270-1272)GTG>ATG		protein tyrosine phosphatase, receptor type, T							67.0	73.0	71.0					20																	41101086		2129	4243	6372	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41101086C>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1270G>A	20.37:g.41101086C>T	ENSP00000362283:p.Val424Met					PTPRT_uc010ggj.2_Missense_Mutation_p.V424M	p.V424M	NM_007050	NP_008981	O14522	PTPRT_HUMAN			8	1454	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	424			Extracellular (Potential).|Fibronectin type-III 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1270G>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374639	0.61735	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.29	5.29	0.74685	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.131761	0.50627	D	0.000115	T	0.57770	0.2076	L	0.46157	1.445	0.53005	D	0.999969	D;D	0.63880	0.993;0.988	P;B	0.52646	0.705;0.414	T	0.61917	-0.6964	10	0.87932	D	0	.	14.5221	0.67856	0.0:0.8535:0.1465:0.0	.	424;424	O14522-1;O14522	.;PTPRT_HUMAN	M	424	ENSP00000362286:V424M;ENSP00000362283:V424M;ENSP00000362289:V424M;ENSP00000348408:V424M;ENSP00000362294:V424M;ENSP00000362280:V424M;ENSP00000362297:V424M	ENSP00000348408:V424M	V	-	1	0	PTPRT	40534500	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.743000	0.62110	2.484000	0.83849	0.462000	0.41574	GTG		0.607	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
ADM2	79924	broad.mit.edu	37	22	50921222	50921222	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr22:50921222G>A	ENST00000395738.2	+	2	629	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	ADM2_ENST00000362068.2_Nonsense_Mutation_p.W29*|ADM2_ENST00000395737.1_Missense_Mutation_p.G113S	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	113					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|digestion (GO:0007586)|feeding behavior (GO:0007631)|negative regulation of blood pressure (GO:0045776)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)	extracellular region (GO:0005576)	protein complex binding (GO:0032403)			breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGTGTGCTGGGCACCTGCCA	0.701																																						uc003blj.2																			0					0						c.(337-339)GGC>AGC		adrenomedullin 2 precursor							8.0	10.0	10.0					22																	50921222		2073	4119	6192	SO:0001583	missense	79924				positive regulation of angiogenesis	extracellular region	hormone activity	g.chr22:50921222G>A	AF529213	CCDS33682.1	22q13.33	2013-02-25			ENSG00000128165	ENSG00000128165		"""Endogenous ligands"""	28898	protein-coding gene	gene with protein product		608682				14706825	Standard	NM_024866		Approved	AM2, FLJ21135	uc003blj.3	Q7Z4H4	OTTHUMG00000150202	ENST00000395738.2:c.337G>A	22.37:g.50921222G>A	ENSP00000379087:p.Gly113Ser					ADM2_uc011ary.1_Missense_Mutation_p.G113S	p.G113S	NM_024866	NP_079142	Q7Z4H4	ADM2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	602	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	113					Q3LFQ0	Missense_Mutation	SNP	ENST00000395738.2	37	c.337G>A	CCDS33682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.987175|6.987175	0.97983|0.97983	.|.	.|.	ENSG00000128165|ENSG00000128165	ENST00000395738;ENST00000395737|ENST00000362068	T;T|.	0.25579|.	1.79;1.79|.	4.62|4.62	3.36|3.36	0.38483|0.38483	.|.	.|.	.|.	.|.	.|.	T|.	0.55909|.	0.1950|.	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D|.	0.61697|.	0.99|.	P|.	0.57548|.	0.823|.	T|.	0.52975|.	-0.8503|.	9|.	0.87932|0.02654	D|T	0|1	.|.	10.9013|10.9013	0.47054|0.47054	0.1135:0.0:0.8865:0.0|0.1135:0.0:0.8865:0.0	.|.	113|.	Q7Z4H4|.	ADM2_HUMAN|.	S|X	113|29	ENSP00000379087:G113S;ENSP00000379086:G113S|.	ENSP00000379086:G113S|ENSP00000354955:W29X	G|W	+|+	1|3	0|0	ADM2|ADM2	49268088|49268088	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.520000|0.520000	0.34377|0.34377	4.266000|4.266000	0.58871|0.58871	2.113000|2.113000	0.64589|0.64589	0.448000|0.448000	0.29417|0.29417	GGC|TGG		0.701	ADM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316816.1	NM_024866	
PLA1A	51365	broad.mit.edu	37	3	119316815	119316815	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr3:119316815C>G	ENST00000273371.4	+	1	127	c.55C>G	c.(55-57)Ctc>Gtc	p.L19V	PLA1A_ENST00000494440.1_5'Flank|PLA1A_ENST00000495992.1_Missense_Mutation_p.L19V|PLA1A_ENST00000488919.1_5'UTR	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	19					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CATTTTGTGGCTCAGCGTTGG	0.507																																						uc003ecu.2																			0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(55-57)CTC>GTC		phospholipase A1 member A precursor							45.0	42.0	43.0					3																	119316815		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119316815C>G	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.55C>G	3.37:g.119316815C>G	ENSP00000273371:p.Leu19Val					PLA1A_uc003ecv.2_Missense_Mutation_p.L19V|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_5'UTR	p.L19V	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN			1	94	+			19					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.55C>G	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624402	0.28889	.	.	ENSG00000144837	ENST00000273371;ENST00000495992	D;D	0.90385	-2.66;-2.57	5.18	2.38	0.29361	Lipase, N-terminal (1);	20.918400	0.00597	N	0.000363	D	0.85457	0.5701	N	0.25647	0.755	0.09310	N	0.999999	P;P	0.48089	0.728;0.905	B;B	0.43508	0.297;0.422	T	0.75531	-0.3285	10	0.16896	T	0.51	-5.7906	7.2512	0.26150	0.0:0.7209:0.0:0.2791	.	19;19	Q53H76-3;Q53H76	.;PLA1A_HUMAN	V	19	ENSP00000273371:L19V;ENSP00000417326:L19V	ENSP00000273371:L19V	L	+	1	0	PLA1A	120799505	0.345000	0.24835	0.275000	0.24674	0.345000	0.29048	0.065000	0.14466	0.774000	0.33427	0.655000	0.94253	CTC		0.507	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2		
MRPL3	11222	broad.mit.edu	37	3	131190114	131190114	+	Silent	SNP	T	T	C			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr3:131190114T>C	ENST00000264995.3	-	7	786	c.639A>G	c.(637-639)aaA>aaG	p.K213K	MRPL3_ENST00000425847.2_Silent_p.K240K	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	213					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CTTGAAAACCTTTACCAATAC	0.408																																						uc003eoh.2																			0					0						c.(637-639)AAA>AAG		mitochondrial ribosomal protein L3							97.0	98.0	98.0					3																	131190114		2203	4299	6502	SO:0001819	synonymous_variant	11222				translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr3:131190114T>C	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.639A>G	3.37:g.131190114T>C						MRPL3_uc011blo.1_Silent_p.K108K|MRPL3_uc011blp.1_Silent_p.K240K	p.K213K	NM_007208	NP_009139	P09001	RM03_HUMAN			7	803	-			213					Q6IBT2	Silent	SNP	ENST00000264995.3	37	c.639A>G	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	T	9.854	1.194396	0.22037	.	.	ENSG00000114686	ENST00000511168	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	T	0.70868	0.3273	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70153	-0.4950	4	.	.	.	-24.2461	14.6911	0.69087	0.0:0.0:0.0:1.0	.	.	.	.	G	228	.	.	R	-	1	2	MRPL3	132672804	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.835000	0.55805	2.113000	0.64589	0.528000	0.53228	AGG		0.408	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	NM_007208	
RASSF6	166824	broad.mit.edu	37	4	74442417	74442417	+	Silent	SNP	C	C	T	rs147932445	byFrequency	TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr4:74442417C>T	ENST00000342081.3	-	9	979	c.849G>A	c.(847-849)ccG>ccA	p.P283P	RASSF6_ENST00000307439.5_Silent_p.P251P|RASSF6_ENST00000395777.2_Silent_p.P217P|RASSF6_ENST00000335049.5_Silent_p.P239P	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	283	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)					breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCTGCAGTAGCGGAATGTCTG	0.403													C|||	4	0.000798722	0.0	0.0029	5008	,	,		18175	0.0		0.0	False		,,,				2504	0.002					uc003hhd.1																			0				pancreas(2)	2						c.(847-849)CCG>CCA		Ras association (RalGDS/AF-6) domain family 6		C	,	1,4405	2.1+/-5.4	0,1,2202	220.0	229.0	226.0		753,849	-12.1	0.0	4	dbSNP_134	226	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	RASSF6	NM_177532.3,NM_201431.1	,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,	251/338,283/370	74442417	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	166824				apoptosis|signal transduction		protein binding	g.chr4:74442417C>T	AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.849G>A	4.37:g.74442417C>T						RASSF6_uc003hhc.1_Silent_p.P251P|RASSF6_uc010iik.1_Silent_p.P217P|RASSF6_uc010iil.1_Silent_p.P239P	p.P283P	NM_201431	NP_958834	Q6ZTQ3	RASF6_HUMAN	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		9	972	-	Breast(15;0.00102)		283			Ras-associating.		Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Silent	SNP	ENST00000342081.3	37	c.849G>A	CCDS3558.1																																																																																				0.403	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	NM_177532	
DSPP	1834	broad.mit.edu	37	4	88534401	88534401	+	Missense_Mutation	SNP	G	G	A	rs61738515	byFrequency	TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr4:88534401G>A	ENST00000282478.7	+	3	1096	c.1063G>A	c.(1063-1065)Gta>Ata	p.V355I	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.V355I			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	355					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AAGCAAACGCGTAGAAAATAG	0.418													G|||	20	0.00399361	0.0136	0.0029	5008	,	,		20067	0.0		0.0	False		,,,				2504	0.0					uc003hqu.2																			0				central_nervous_system(1)	1						c.(1063-1065)GTA>ATA		dentin sialophosphoprotein preproprotein		G	ILE/VAL	32,3730		0,32,1849	38.0	37.0	37.0		1063	2.9	0.0	4	dbSNP_129	37	1,8169		0,1,4084	yes	missense	DSPP	NM_014208.3	29	0,33,5933	AA,AG,GG		0.0122,0.8506,0.2766	possibly-damaging	355/1302	88534401	33,11899	1881	4085	5966	SO:0001583	missense	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88534401G>A	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1063G>A	4.37:g.88534401G>A	ENSP00000282478:p.Val355Ile						p.V355I	NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	4	1183	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	355					A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	c.1063G>A	CCDS43248.1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	G	12.59	1.982524	0.34942	0.008506	1.22E-4	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.90676	-2.71;-2.71	4.68	2.93	0.34026	.	0.635334	0.12002	N	0.508770	T	0.76521	0.3999	L	0.55481	1.735	0.09310	N	1	P	0.47350	0.894	B	0.37239	0.244	T	0.70059	-0.4976	10	0.42905	T	0.14	-0.4445	7.6755	0.28484	0.0916:0.1646:0.7438:0.0	rs61738515	355	Q9NZW4	DSPP_HUMAN	I	355	ENSP00000382213:V355I;ENSP00000282478:V355I	ENSP00000282478:V355I	V	+	1	0	DSPP	88753425	0.001000	0.12720	0.001000	0.08648	0.022000	0.10575	0.233000	0.17911	0.557000	0.29117	0.557000	0.71058	GTA		0.418	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
GYPE	2996	broad.mit.edu	37	4	144826671	144826671	+	De_novo_Start_OutOfFrame	SNP	C	C	T	rs368795769		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr4:144826671C>T	ENST00000358615.4	-	0	41				GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					CCTGAGATCACGAGCTGGCTC	0.398																																						uc003ijj.2																			0					0						c.(-12--8)TCGTG>TCATG		glycophorin E precursor							100.0	101.0	101.0					4																	144826671		2203	4300	6503			2996					integral to plasma membrane		g.chr4:144826671C>T		CCDS47138.1	4q31.21	2010-01-19	2010-01-19		ENSG00000197465	ENSG00000197465		"""Blood group antigens"""	4705	protein-coding gene	gene with protein product		138590	"""glycophorin E"""				Standard	NM_198682		Approved	GPE, MNS	uc003ijj.3	P15421	OTTHUMG00000161402	ENST00000358615.4:c.-11G>A	4.37:g.144826671C>T						GYPE_uc010ion.2_RNA|GYPE_uc003ijk.3_Translation_Start_Site		NM_198682	NP_941391	P15421	GLPE_HUMAN			1	46	-	all_hematologic(180;0.158)							D3DNZ5	Translation_Start_Site	SNP	ENST00000358615.4	37	c.-10G>A	CCDS47138.1																																																																																				0.398	GYPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364780.1	NM_002102	
TRIM2	23321	broad.mit.edu	37	4	154215581	154215581	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr4:154215581G>A	ENST00000437508.2	+	5	850	c.649G>A	c.(649-651)Gtg>Atg	p.V217M	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000338700.5_Missense_Mutation_p.V244M	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	217					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GACTTTAAATGTGCGCAAGAG	0.418																																						uc003ing.2																			0				central_nervous_system(1)	1						c.(649-651)GTG>ATG		tripartite motif-containing 2 isoform 2							144.0	126.0	132.0					4																	154215581		2203	4300	6503	SO:0001583	missense	23321					cytoplasm	zinc ion binding	g.chr4:154215581G>A	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.649G>A	4.37:g.154215581G>A	ENSP00000415812:p.Val217Met					TRIM2_uc003inh.2_Missense_Mutation_p.V244M	p.V217M	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	5	850	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	217					D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	c.649G>A	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601902	0.87055	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	T;T	0.69561	-0.4;-0.41	6.17	6.17	0.99709	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70316	0.3210	L	0.47716	1.5	0.54753	D	0.999982	P;P	0.50943	0.94;0.94	P;P	0.48030	0.564;0.564	T	0.70934	-0.4737	10	0.62326	D	0.03	-7.7904	20.8794	0.99867	0.0:0.0:1.0:0.0	.	244;217	D3DP09;Q9C040	.;TRIM2_HUMAN	M	217;244	ENSP00000415812:V217M;ENSP00000339659:V244M	ENSP00000339659:V244M	V	+	1	0	TRIM2	154435031	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	7.484000	0.81180	2.941000	0.99782	0.655000	0.94253	GTG		0.418	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1		
IL7R	3575	broad.mit.edu	37	5	35876389	35876389	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr5:35876389G>A	ENST00000303115.3	+	8	1310	c.1181G>A	c.(1180-1182)gGc>gAc	p.G394D	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	394					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGGGAGAGTGGCAAGAATGGG	0.537			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															uc003jjs.2				Dom	yes		5	5p13	146661		interleukin 7 receptor	yes		L					0				ovary(3)|breast(1)|skin(1)	5						c.(1180-1182)GGC>GAC		interleukin 7 receptor precursor							97.0	86.0	90.0					5																	35876389		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35876389G>A	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1181G>A	5.37:g.35876389G>A	ENSP00000306157:p.Gly394Asp					IL7R_uc011cop.1_RNA	p.G394D	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		8	1270	+	all_lung(31;0.00015)		394			Cytoplasmic (Potential).		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.1181G>A	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	g	1.253	-0.617932	0.03663	.	.	ENSG00000168685	ENST00000303115;ENST00000505875	T;T	0.28895	2.06;1.59	5.6	-2.57	0.06248	.	1.973100	0.01553	N	0.019767	T	0.17534	0.0421	L	0.28274	0.84	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.06991	-1.0796	10	0.12766	T	0.61	-11.3915	1.9841	0.03433	0.4453:0.1286:0.2945:0.1315	.	394	P16871	IL7RA_HUMAN	D	394;160	ENSP00000306157:G394D;ENSP00000420923:G160D	ENSP00000306157:G394D	G	+	2	0	IL7R	35912146	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.044000	0.12023	-0.999000	0.03442	-1.832000	0.00591	GGC		0.537	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2		
UTP15	84135	broad.mit.edu	37	5	72864347	72864347	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr5:72864347G>A	ENST00000296792.4	+	4	541	c.286G>A	c.(286-288)Gtg>Atg	p.V96M	UTP15_ENST00000543251.1_5'UTR|ANKRA2_ENST00000296785.3_5'Flank|UTP15_ENST00000508491.1_Missense_Mutation_p.V77M	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	96					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TAGATTGCTTGTGGCTGGCAG	0.428																																						uc003kcw.1																			0					0						c.(286-288)GTG>ATG		UTP15, U3 small nucleolar ribonucleoprotein,							110.0	113.0	112.0					5																	72864347		2203	4300	6503	SO:0001583	missense	84135				rRNA processing	cytoplasm|nucleolus		g.chr5:72864347G>A	AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"""WD repeat domain containing"""	25758	protein-coding gene	gene with protein product			"""UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.286G>A	5.37:g.72864347G>A	ENSP00000296792:p.Val96Met					UTP15_uc011cso.1_Missense_Mutation_p.V77M|UTP15_uc011csp.1_Translation_Start_Site|UTP15_uc010ize.1_Missense_Mutation_p.V96M|ANKRA2_uc003kcu.1_5'Flank|ANKRA2_uc003kcv.2_5'Flank	p.V96M	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	4	509	+		Lung NSC(167;0.00405)|Ovarian(174;0.0129)	96			WD 2.		B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Missense_Mutation	SNP	ENST00000296792.4	37	c.286G>A	CCDS34186.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876895	0.91664	.	.	ENSG00000164338	ENST00000296792;ENST00000508491	T;T	0.21932	1.98;1.98	5.55	5.55	0.83447	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.109305	0.64402	D	0.000008	T	0.57902	0.2085	M	0.92122	3.275	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.69479	0.964;0.964	T	0.68119	-0.5493	9	.	.	.	.	19.5283	0.95215	0.0:0.0:1.0:0.0	.	77;96	B4DXK8;Q8TED0	.;UTP15_HUMAN	M	96;77	ENSP00000296792:V96M;ENSP00000424609:V77M	.	V	+	1	0	UTP15	72900103	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.360000	0.79487	2.596000	0.87737	0.655000	0.94253	GTG		0.428	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175	
GRIA1	2890	broad.mit.edu	37	5	153190767	153190767	+	Silent	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr5:153190767G>A	ENST00000285900.5	+	16	3046	c.2703G>A	c.(2701-2703)ttG>ttA	p.L901L	GRIA1_ENST00000448073.4_Silent_p.L911L|GRIA1_ENST00000518142.1_Silent_p.L821L|GRIA1_ENST00000340592.5_Silent_p.L901L|GRIA1_ENST00000518783.1_Silent_p.L911L|GRIA1_ENST00000521843.2_Silent_p.L832L	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	901					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GGATGCCCTTGGGAGCCACGG	0.592																																						uc003lva.3																			0				ovary(4)|skin(2)	6						c.(2701-2703)TTG>TTA		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						44.0	41.0	42.0					5																	153190767		2203	4300	6503	SO:0001819	synonymous_variant	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153190767G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2703G>A	5.37:g.153190767G>A						GRIA1_uc003luy.3_Silent_p.L901L|GRIA1_uc003luz.3_Silent_p.L806L|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Silent_p.L821L|GRIA1_uc011dcx.1_Silent_p.L832L|GRIA1_uc011dcy.1_Silent_p.L911L|GRIA1_uc011dcz.1_Silent_p.L911L	p.L901L	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		16	3068	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	901			Cytoplasmic (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.2703G>A	CCDS4322.1																																																																																				0.592	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		
IRF4	3662	broad.mit.edu	37	6	398928	398928	+	Silent	SNP	G	G	A	rs144395675	byFrequency	TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr6:398928G>A	ENST00000380956.4	+	6	864	c.738G>A	c.(736-738)gcG>gcA	p.A246A		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	246					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AAGCCTTGGCGTTCTCAGGTG	0.592			T	IGH@	MM								G|||	2	0.000399361	0.0008	0.0	5008	,	,		19636	0.0		0.0	False		,,,				2504	0.001					uc003msz.3				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM 		0				ovary(1)	1						c.(736-738)GCG>GCA		interferon regulatory factor 4		G	,	0,4406		0,0,2203	52.0	51.0	51.0		735,738	-3.2	1.0	6	dbSNP_134	51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	IRF4	NM_001195286.1,NM_002460.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	245/451,246/452	398928	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:398928G>A	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.738G>A	6.37:g.398928G>A						IRF4_uc010jne.1_Silent_p.A246A|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Silent_p.A245A|IRF4_uc003mtc.1_Silent_p.A76A	p.A246A	NM_002460	NP_002451	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	6	851	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	246					Q5VUI7|Q99660	Silent	SNP	ENST00000380956.4	37	c.738G>A	CCDS4469.1																																																																																				0.592	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1		
ECT2L	345930	broad.mit.edu	37	6	139208055	139208055	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr6:139208055G>A	ENST00000423192.1	+	18	2482	c.2321G>A	c.(2320-2322)tGc>tAc	p.C774Y	ECT2L_ENST00000541398.1_Missense_Mutation_p.C628Y|ECT2L_ENST00000367682.2_Missense_Mutation_p.C774Y			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	774							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						ATCTGGGGATGCCCTGTATGT	0.393			"""N, Splice, Mis"""		ETP ALL																																	uc003qif.1				Rec	yes		6	6q24.1	345930		epithelial cell transforming sequence 2 oncogene-like			L					0					0						c.(2320-2322)TGC>TAC		epithelial cell transforming sequence 2							69.0	65.0	66.0					6																	139208055		1888	4102	5990	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139208055G>A		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.2321G>A	6.37:g.139208055G>A	ENSP00000387388:p.Cys774Tyr					ECT2L_uc011edq.1_Missense_Mutation_p.C628Y	p.C774Y	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN			17	2424	+			774					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.2321G>A	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625072	0.66901	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.79653	-0.08;-0.08;-1.29	5.48	5.48	0.80851	Dbl homology (DH) domain (1);	0.000000	0.47093	U	0.000248	D	0.86213	0.5879	M	0.76002	2.32	0.33194	D	0.55121	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	D	0.85039	0.0922	10	0.38643	T	0.18	-4.8331	15.1959	0.73088	0.0:0.0:1.0:0.0	.	628;774	F5H7S9;Q008S8	.;ECT2L_HUMAN	Y	774;774;628	ENSP00000387388:C774Y;ENSP00000356655:C774Y;ENSP00000442307:C628Y	ENSP00000356655:C774Y	C	+	2	0	ECT2L	139249748	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.161000	0.64935	2.738000	0.93877	0.655000	0.94253	TGC		0.393	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706	
MAD1L1	8379	broad.mit.edu	37	7	1855850	1855850	+	Silent	SNP	C	C	T	rs370594384		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:1855850C>T	ENST00000406869.1	-	19	2570	c.2013G>A	c.(2011-2013)tcG>tcA	p.S671S	MAD1L1_ENST00000402746.1_Silent_p.S579S|MAD1L1_ENST00000265854.7_Silent_p.S671S|MAD1L1_ENST00000399654.2_Silent_p.S671S			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	671					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCTTGGAACCCGAGGGGCTGG	0.642																																						uc003slh.1																			0				lung(1)|central_nervous_system(1)	2						c.(2011-2013)TCG>TCA		MAD1-like 1 protein		C	,,	1,4047		0,1,2023	59.0	70.0	67.0		2013,2013,2013	1.9	1.0	7		67	0,8368		0,0,4184	no	coding-synonymous,coding-synonymous,coding-synonymous	MAD1L1	NM_001013836.1,NM_001013837.1,NM_003550.2	,,	0,1,6207	TT,TC,CC		0.0,0.0247,0.0081	,,	671/719,671/719,671/719	1855850	1,12415	2024	4184	6208	SO:0001819	synonymous_variant	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:1855850C>T	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.2013G>A	7.37:g.1855850C>T						MAD1L1_uc003sle.1_Silent_p.S400S|MAD1L1_uc003slf.1_Silent_p.S671S|MAD1L1_uc003slg.1_Silent_p.S671S|MAD1L1_uc010ksh.1_Silent_p.S671S|MAD1L1_uc003sli.1_Silent_p.S579S|MAD1L1_uc003sld.1_Silent_p.S127S	p.S671S	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	19	2279	-		Ovarian(82;0.0272)	671					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	c.2013G>A	CCDS43539.1																																																																																				0.642	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550	
FKBP9P1	360132	broad.mit.edu	37	7	55753014	55753014	+	RNA	SNP	C	C	T	rs185524994	byFrequency	TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:55753014C>T	ENST00000455909.1	-	0	549				RNU6-389P_ENST00000517048.1_RNA	NR_027340.1|NR_027342.1		Q75LS8	FKB9L_HUMAN							protein folding (GO:0006457)		calcium ion binding (GO:0005509)	p.G35R(1)		endometrium(1)|kidney(1)|lung(3)	5						ACGGCACTGCCGGGCACTTCT	0.602													C|||	4	0.000798722	0.003	0.0	5008	,	,		17961	0.0		0.0	False		,,,				2504	0.0					uc010kzl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(436-438)GGC>AGC		SubName: Full=cDNA, FLJ79189, highly similar to FK506-binding protein 9 (EC 5.2.1.8);		C		2,1382		0,2,690	96.0	82.0	86.0			2.1	1.0	7		86	0,3180		0,0,1590	no	intergenic				0,2,2280	TT,TC,CC		0.0,0.1445,0.0438			55753014	2,4562	692	1590	2282			360132							g.chr7:55753014C>T																													7.37:g.55753014C>T						FKBP9L_uc010kzk.2_Missense_Mutation_p.G35S|FKBP9L_uc003tqt.2_Missense_Mutation_p.G35S|FKBP9L_uc011kcs.1_Missense_Mutation_p.G35S	p.G146S	NR_003949						5	536	-								B2R7H1	Missense_Mutation	SNP	ENST00000455909.1	37	c.436G>A																																																																																					0.602	FKBP9L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000251473.2		
ELN	2006	broad.mit.edu	37	7	73457353	73457353	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:73457353G>A	ENST00000252034.7	+	7	764	c.365G>A	c.(364-366)gGa>gAa	p.G122E	ELN_ENST00000380584.4_Missense_Mutation_p.G122E|ELN_ENST00000458204.1_Missense_Mutation_p.G112E|ELN_ENST00000320492.7_Missense_Mutation_p.G110E|ELN_ENST00000358929.4_Missense_Mutation_p.G122E|ELN_ENST00000380553.4_Intron|ELN_ENST00000380576.5_Missense_Mutation_p.G122E|ELN_ENST00000445912.1_Missense_Mutation_p.G122E|ELN_ENST00000357036.5_Missense_Mutation_p.G122E|ELN_ENST00000320399.6_Missense_Mutation_p.G122E|ELN_ENST00000380562.4_Missense_Mutation_p.G122E|ELN_ENST00000429192.1_Missense_Mutation_p.G122E|ELN_ENST00000414324.1_Missense_Mutation_p.G112E|ELN_ENST00000380575.4_Missense_Mutation_p.G112E	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	122					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				GGTGGCTTAGGAGTGTCTGCA	0.627			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															uc003tzw.2				Dom	yes		7	7q11.23	2006	T	elastin	yes	Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome	L	PAX5		B-ALL		0				ovary(3)|pancreas(2)	5						c.(364-366)GGA>GAA		elastin isoform a precursor	Rofecoxib(DB00533)						156.0	140.0	146.0					7																	73457353		2203	4300	6503	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73457353G>A		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.365G>A	7.37:g.73457353G>A	ENSP00000252034:p.Gly122Glu					RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_Intron|ELN_uc011kfe.1_Missense_Mutation_p.G91E|ELN_uc003tzn.2_Missense_Mutation_p.G122E|ELN_uc003tzz.2_Missense_Mutation_p.G110E|ELN_uc003tzo.2_Missense_Mutation_p.G122E|ELN_uc003tzp.2_Missense_Mutation_p.G112E|ELN_uc003tzq.2_Intron|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Missense_Mutation_p.G122E|ELN_uc003tzt.2_Missense_Mutation_p.G122E|ELN_uc003tzu.2_Missense_Mutation_p.G122E|ELN_uc003tzv.2_Missense_Mutation_p.G112E|ELN_uc003tzx.2_Missense_Mutation_p.G112E|ELN_uc011kff.1_Missense_Mutation_p.G122E|ELN_uc003tzy.2_Missense_Mutation_p.G112E	p.G122E	NM_000501	NP_001075224	P15502	ELN_HUMAN			7	456	+		Lung NSC(55;0.159)	122					B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.365G>A	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	g	12.21	1.869647	0.33069	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000431562;ENST00000320492;ENST00000438906;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000417091;ENST00000429192;ENST00000442462;ENST00000442310;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;1.0;-1.01;-1.01;-1.01;-1.01;1.0;1.0;-1.01;-1.01	4.72	3.83	0.44106	.	.	.	.	.	T	0.78521	0.4296	M	0.73598	2.24	0.44234	D	0.997077	P;P;P;P;P;P;P;P;P;P;P;P;P	0.46142	0.873;0.873;0.873;0.873;0.873;0.873;0.873;0.873;0.873;0.873;0.873;0.873;0.873	P;P;P;P;P;P;P;P;P;P;P;P;P	0.52710	0.707;0.49;0.707;0.707;0.707;0.707;0.707;0.707;0.707;0.707;0.707;0.707;0.707	T	0.75634	-0.3250	9	0.06365	T	0.9	.	7.8678	0.29547	0.1107:0.0:0.8893:0.0	.	122;91;110;112;112;122;112;122;122;122;112;122;122	E7ENM0;E9PBM4;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	E	122;122;122;100;110;110;112;122;112;122;112;122;122;122;91;122;122;122	ENSP00000389857:G122E;ENSP00000252034:G122E;ENSP00000351807:G122E;ENSP00000394549:G100E;ENSP00000315607:G110E;ENSP00000406949:G110E;ENSP00000392575:G112E;ENSP00000369936:G122E;ENSP00000369949:G112E;ENSP00000369958:G122E;ENSP00000403162:G112E;ENSP00000349540:G122E;ENSP00000391129:G122E;ENSP00000369950:G122E;ENSP00000313565:G122E	ENSP00000252034:G122E	G	+	2	0	ELN	73095289	1.000000	0.71417	1.000000	0.80357	0.269000	0.26545	4.981000	0.63819	2.198000	0.70561	0.306000	0.20318	GGA		0.627	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501	
GTF2IRD1	9569	broad.mit.edu	37	7	73922465	73922465	+	Missense_Mutation	SNP	C	C	T	rs139144176		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:73922465C>T	ENST00000265755.3	+	2	448	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R19C|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R19C|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.R19C|GTF2IRD1_ENST00000489094.1_3'UTR	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	19					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CGGACCCGACCGCTGGAACTC	0.642																																						uc003uaq.2																			0				ovary(4)	4						c.(55-57)CGC>TGC		GTF2I repeat domain containing 1 isoform 1							97.0	75.0	82.0					7																	73922465		2203	4300	6503	SO:0001583	missense	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73922465C>T	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.55C>T	7.37:g.73922465C>T	ENSP00000265755:p.Arg19Cys					GTF2IRD1_uc010lbq.2_Missense_Mutation_p.R19C|GTF2IRD1_uc003uap.2_Missense_Mutation_p.R19C|GTF2IRD1_uc003uar.1_Missense_Mutation_p.R19C	p.R19C	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN			2	448	+			19					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	c.55C>T	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285332	0.59867	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.34275	1.38;1.37;1.38;1.38	4.57	3.62	0.41486	.	0.414509	0.23442	N	0.048124	T	0.33235	0.0856	N	0.22421	0.69	0.46981	D	0.999278	D;D;D;D	0.67145	0.978;0.996;0.983;0.994	B;B;P;P	0.50049	0.328;0.425;0.507;0.629	T	0.24977	-1.0145	10	0.72032	D	0.01	-10.1129	13.4666	0.61258	0.0:0.8423:0.1577:0.0	.	19;19;19;19	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	C	19	ENSP00000265755:R19C;ENSP00000397566:R19C;ENSP00000408477:R19C;ENSP00000418383:R19C	ENSP00000265755:R19C	R	+	1	0	GTF2IRD1	73560401	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	2.788000	0.47806	2.269000	0.75478	0.561000	0.74099	CGC		0.642	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328	
NPTX2	4885	broad.mit.edu	37	7	98257925	98257925	+	Missense_Mutation	SNP	G	G	A	rs369863365		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:98257925G>A	ENST00000265634.3	+	5	1445	c.1280G>A	c.(1279-1281)cGt>cAt	p.R427H		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	427	Pentaxin.			R -> A (in Ref. 1; AAA68980/AAA92296). {ECO:0000305}.	synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TGTGAGGAGCGTCTCCTTGAC	0.582																																						uc003upl.2																			0				central_nervous_system(2)|skin(1)	3						c.(1279-1281)CGT>CAT		neuronal pentraxin II precursor		G	HIS/ARG	0,4402		0,0,2201	42.0	40.0	41.0		1280	5.1	0.9	7		41	1,8599		0,1,4299	no	missense	NPTX2	NM_002523.2	29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	427/432	98257925	1,13001	2201	4300	6501	SO:0001583	missense	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98257925G>A		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.1280G>A	7.37:g.98257925G>A	ENSP00000265634:p.Arg427His						p.R427H	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		5	1457	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		427	R -> A (in Ref. 1; AAA68980/AAA92296).		Pentaxin.		A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	c.1280G>A	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762101	0.89932	0.0	1.16E-4	ENSG00000106236	ENST00000265634	T	0.12255	2.7	5.94	5.06	0.68205	.	0.148621	0.64402	D	0.000007	T	0.37865	0.1019	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.23940	-1.0174	10	0.72032	D	0.01	-6.0998	15.721	0.77710	0.0:0.0:0.8624:0.1376	.	427	P47972	NPTX2_HUMAN	H	427	ENSP00000265634:R427H	ENSP00000265634:R427H	R	+	2	0	NPTX2	98095861	1.000000	0.71417	0.946000	0.38457	0.752000	0.42762	9.702000	0.98712	1.516000	0.48900	-0.310000	0.09108	CGT		0.582	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523	
AZGP1	563	broad.mit.edu	37	7	99564820	99564820	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:99564820delT	ENST00000292401.4	-	4	839	c.703delA	c.(703-705)attfs	p.I235fs	AZGP1_ENST00000411734.1_3'UTR|AZGP1_ENST00000483612.1_5'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	235	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TGCACATCAATTTTCCCTGGG	0.567																																						uc003ush.2																			0				ovary(1)|central_nervous_system(1)	2						c.(703-705)ATTfs		alpha-2-glycoprotein 1, zinc							39.0	37.0	38.0					7																	99564820		2203	4296	6499	SO:0001589	frameshift_variant	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99564820delT	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.703delA	7.37:g.99564820delT	ENSP00000292401:p.Ile235fs						p.I235fs	NM_001185	NP_001176	P25311	ZA2G_HUMAN			4	747	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		235			Ig-like C1-type.		D6W5T8|O60386|Q5XKQ4|Q8N4N0	Frame_Shift_Del	DEL	ENST00000292401.4	37	c.703delA	CCDS5680.1																																																																																				0.567	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185	
REPIN1	29803	broad.mit.edu	37	7	150068350	150068350	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:150068350G>A	ENST00000425389.2	+	1	98	c.20G>A	c.(19-21)aGg>aAg	p.R7K	REPIN1_ENST00000479668.1_Missense_Mutation_p.G106R|REPIN1_ENST00000444957.1_Missense_Mutation_p.R7K|REPIN1_ENST00000489432.2_Missense_Mutation_p.R64K|REPIN1_ENST00000397281.2_Missense_Mutation_p.R7K|REPIN1_ENST00000540729.1_Missense_Mutation_p.R7K|REPIN1_ENST00000518462.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000518514.1_Silent_p.Q55Q|REPIN1_ENST00000482680.1_Missense_Mutation_p.G106R|REPIN1_ENST00000466559.1_Missense_Mutation_p.G25R	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	7					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CGTCGTTGCAGGGGCCCCCTG	0.647																																						uc010lpq.1																			0				pancreas(1)	1						c.(19-21)AGG>AAG		replication initiator 1 isoform 1							12.0	17.0	15.0					7																	150068350		1930	4113	6043	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150068350G>A	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.20G>A	7.37:g.150068350G>A	ENSP00000388287:p.Arg7Lys					REPIN1_uc003whd.2_5'UTR|REPIN1_uc010lpr.1_Missense_Mutation_p.R64K|REPIN1_uc003whc.2_Missense_Mutation_p.R7K|REPIN1_uc003whe.2_Missense_Mutation_p.R7K	p.R7K	NM_013400	NP_037532	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	509	+	Ovarian(565;0.183)|Melanoma(164;0.226)		7					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.20G>A	CCDS43677.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.83|13.83	2.353760|2.353760	0.41700|0.41700	.|.	.|.	ENSG00000214022|ENSG00000214022	ENST00000479668;ENST00000466559;ENST00000482680|ENST00000519397;ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000475514;ENST00000488943;ENST00000461637;ENST00000425389	.|T;T;T;T;T;T;T;T	.|0.08102	.|5.67;3.21;3.21;3.21;3.13;3.49;3.26;3.21	5.2|5.2	3.38|3.38	0.38709|0.38709	.|.	.|.	.|.	.|.	.|.	T|T	0.04363|0.04363	0.0120|0.0120	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B;B	.|0.22080	.|0.064;0.064	.|B;B	.|0.17722	.|0.019;0.012	T|T	0.35992|0.35992	-0.9766|-0.9766	6|9	0.87932|0.62326	D|D	0|0.03	-19.2051|-19.2051	6.8101|6.8101	0.23799|0.23799	0.2045:0.0:0.7955:0.0|0.2045:0.0:0.7955:0.0	.|.	.|64;7	.|C9J3L7;Q9BWE0	.|.;REPI1_HUMAN	R|K	106;25;106|7;7;7;7;64;66;67;64;7	.|ENSP00000428562:R7K;ENSP00000445016:R7K;ENSP00000380451:R7K;ENSP00000407714:R7K;ENSP00000417291:R64K;ENSP00000419789:R66K;ENSP00000419872:R67K;ENSP00000388287:R7K	ENSP00000418507:G25R|ENSP00000380451:R7K	G|R	+|+	1|2	0|0	REPIN1|REPIN1	149699283|149699283	0.206000|0.206000	0.23470|0.23470	1.000000|1.000000	0.80357|0.80357	0.908000|0.908000	0.53690|0.53690	0.821000|0.821000	0.27338|0.27338	1.173000|1.173000	0.42796|0.42796	0.462000|0.462000	0.41574|0.41574	GGG|AGG		0.647	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374	
STKLD1	169436	broad.mit.edu	37	9	136260823	136260823	+	Missense_Mutation	SNP	G	G	T	rs587748084		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr9:136260823G>T	ENST00000371957.3	+	9	906	c.799G>T	c.(799-801)Gtg>Ttg	p.V267L	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GATCCCGGATGTGGAAACCTT	0.552																																						uc004cdk.2																			0				stomach(2)|central_nervous_system(2)	4						c.(799-801)GTG>TTG		hypothetical protein LOC169436							88.0	91.0	90.0					9																	136260823		2203	4300	6503	SO:0001583	missense	169436						ATP binding|protein kinase activity	g.chr9:136260823G>T																												ENST00000371957.3:c.799G>T	9.37:g.136260823G>T	ENSP00000361025:p.Val267Leu					C9orf96_uc004cdl.2_RNA	p.V267L	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	9	860	+			267			Protein kinase.		Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	c.799G>T	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	G	1.956	-0.439953	0.04636	.	.	ENSG00000198870	ENST00000371957	T	0.19806	2.12	4.86	0.676	0.17958	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.749870	0.12158	N	0.494252	T	0.07503	0.0189	N	0.02685	-0.53	0.09310	N	0.999997	B	0.22746	0.074	B	0.17979	0.02	T	0.29427	-1.0012	10	0.49607	T	0.09	-3.7061	3.5295	0.07771	0.1978:0.0:0.4559:0.3463	.	267	Q8NE28	SGK71_HUMAN	L	267	ENSP00000361025:V267L	ENSP00000361025:V267L	V	+	1	0	C9orf96	135250644	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.295000	0.19065	-0.075000	0.12798	-0.475000	0.04921	GTG		0.552	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1		
BCOR	54880	broad.mit.edu	37	X	39932184	39932185	+	Frame_Shift_Ins	INS	-	-	CAGAC			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chrX:39932184_39932185insCAGAC	ENST00000378444.4	-	4	2642_2643	c.2414_2415insGTCTG	c.(2413-2415)tacfs	p.Y805fs	BCOR_ENST00000397354.3_Frame_Shift_Ins_p.Y805fs|BCOR_ENST00000342274.4_Frame_Shift_Ins_p.Y805fs|BCOR_ENST00000378455.4_Frame_Shift_Ins_p.Y805fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	805					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GAAGGTCTACGTAGACAAGCTT	0.515			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.3				Rec	yes		X	Xp11.4	54880		BCL6 corepressor	yes							0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(2413-2415)TACfs		BCL-6 interacting corepressor isoform c																																				SO:0001589	frameshift_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39932184_39932185insCAGAC	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2414_2415insGTCTG	X.37:g.39932184_39932185insCAGAC	ENSP00000367705:p.Tyr805fs					BCOR_uc004dep.3_Frame_Shift_Ins_p.Y805fs|BCOR_uc004deo.3_Frame_Shift_Ins_p.Y805fs|BCOR_uc004dem.3_Frame_Shift_Ins_p.Y805fs|BCOR_uc004deq.3_Frame_Shift_Ins_p.Y805fs	p.Y805fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			4	2706_2707	-			805					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Ins	INS	ENST00000378444.4	37	c.2414_2415insGTCTG	CCDS48093.1																																																																																				0.515	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745	
AKAP4	8852	broad.mit.edu	37	X	49957245	49957245	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chrX:49957245G>A	ENST00000376056.2	-	5	2242	c.2092C>T	c.(2092-2094)Ctc>Ttc	p.L698F	AKAP4_ENST00000358526.2_Missense_Mutation_p.L707F|AKAP4_ENST00000376064.3_Missense_Mutation_p.L698F|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.L324F					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ATAAGGCAGAGCTTCATCACA	0.478																																						uc004dow.1																			0				kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8						c.(2119-2121)CTC>TTC		A-kinase anchor protein 4 isoform 1							109.0	88.0	95.0					X																	49957245		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957245G>A	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2092C>T	X.37:g.49957245G>A	ENSP00000365224:p.Leu698Phe					AKAP4_uc004dov.1_Missense_Mutation_p.L324F|AKAP4_uc010njp.1_Missense_Mutation_p.L529F|AKAP4_uc004dou.1_Missense_Mutation_p.L698F	p.L707F	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN			5	2243	-	Ovarian(276;0.236)		707						Missense_Mutation	SNP	ENST00000376056.2	37	c.2119C>T	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326745	0.41197	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	4.93	0.0577	0.14324	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.43260	D	0.000591	T	0.35740	0.0942	M	0.77103	2.36	0.27675	N	0.946643	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	T	0.14868	-1.0457	9	.	.	.	-7.2711	7.6327	0.28249	0.5083:0.0:0.4917:0.0	.	707;324	Q5JQC9;A6ND82	AKAP4_HUMAN;.	F	698;324;707;698	ENSP00000365224:L698F;ENSP00000365226:L324F;ENSP00000351327:L707F;ENSP00000365232:L698F	.	L	-	1	0	AKAP4	49843985	0.028000	0.19301	0.920000	0.36463	0.753000	0.42808	-0.027000	0.12371	-0.501000	0.06605	0.529000	0.55759	CTC		0.478	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886	
